Incidental Mutation 'R2018:Cttnbp2'
| ID |
223398 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cttnbp2
|
| Ensembl Gene |
ENSMUSG00000000416 |
| Gene Name |
cortactin binding protein 2 |
| Synonyms |
ORF4, Cortbp2, 4732477G22Rik, 9130022E09Rik, 3010022N24Rik |
| MMRRC Submission |
040027-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2018 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
18366477-18514842 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18434517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 447
(F447S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118432
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090601]
[ENSMUST00000129669]
[ENSMUST00000148602]
|
| AlphaFold |
B9EJA2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090601
AA Change: F447S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000088089
Gene: ENSMUSG00000000416
AA Change: F447S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
30 |
N/A |
INTRINSIC |
|
Pfam:CortBP2
|
32 |
138 |
3.1e-34 |
PFAM |
|
low complexity region
|
197 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
270 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
415 |
N/A |
INTRINSIC |
|
low complexity region
|
539 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
594 |
606 |
N/A |
INTRINSIC |
|
low complexity region
|
662 |
673 |
N/A |
INTRINSIC |
|
ANK
|
699 |
729 |
5.21e1 |
SMART |
|
ANK
|
733 |
762 |
7.02e-5 |
SMART |
|
ANK
|
766 |
795 |
6.55e-5 |
SMART |
|
ANK
|
799 |
828 |
4.1e-6 |
SMART |
|
ANK
|
832 |
861 |
1.09e-1 |
SMART |
|
ANK
|
901 |
931 |
4.43e-2 |
SMART |
|
Blast:AAA
|
1108 |
1285 |
1e-18 |
BLAST |
|
low complexity region
|
1609 |
1623 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129669
|
| SMART Domains |
Protein: ENSMUSP00000116878
Gene: ENSMUSG00000000416
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CortBP2
|
1 |
100 |
4.6e-44 |
PFAM |
|
Pfam:CortBP2
|
92 |
138 |
3.2e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139557
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146775
|
| SMART Domains |
Protein: ENSMUSP00000119383
Gene: ENSMUSG00000000416
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
126 |
138 |
N/A |
INTRINSIC |
|
ANK
|
190 |
220 |
5.21e1 |
SMART |
|
ANK
|
224 |
253 |
7.02e-5 |
SMART |
|
ANK
|
257 |
286 |
6.55e-5 |
SMART |
|
ANK
|
290 |
319 |
4.1e-6 |
SMART |
|
ANK
|
323 |
352 |
1.09e-1 |
SMART |
|
ANK
|
392 |
422 |
4.43e-2 |
SMART |
|
Blast:AAA
|
599 |
776 |
1e-18 |
BLAST |
|
low complexity region
|
1100 |
1114 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148602
AA Change: F447S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118432
Gene: ENSMUSG00000000416
AA Change: F447S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CortBP2
|
26 |
138 |
4.3e-50 |
PFAM |
|
Pfam:CortBP2
|
134 |
180 |
1.3e-12 |
PFAM |
|
low complexity region
|
197 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
270 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
415 |
N/A |
INTRINSIC |
|
low complexity region
|
539 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
594 |
606 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202396
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with six ankyrin repeats and several proline-rich regions. A similar gene in rat interacts with a central regulator of the actin cytoskeleton. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 111 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610028H24Rik |
C |
A |
10: 76,293,899 (GRCm39) |
F252L |
possibly damaging |
Het |
| 4930447A16Rik |
T |
G |
15: 37,440,742 (GRCm39) |
|
probably benign |
Het |
| Abca14 |
A |
T |
7: 119,815,408 (GRCm39) |
M219L |
probably benign |
Het |
| Abi3bp |
A |
G |
16: 56,498,159 (GRCm39) |
T918A |
probably damaging |
Het |
| Acss3 |
C |
T |
10: 106,772,068 (GRCm39) |
S669N |
probably benign |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adamtsl4 |
A |
G |
3: 95,588,412 (GRCm39) |
Y559H |
probably damaging |
Het |
| Adgrg5 |
T |
A |
8: 95,661,108 (GRCm39) |
M106K |
probably damaging |
Het |
| Akt1 |
T |
C |
12: 112,626,059 (GRCm39) |
N71S |
probably damaging |
Het |
| Amer2 |
A |
C |
14: 60,615,894 (GRCm39) |
K30Q |
probably damaging |
Het |
| Anapc5 |
T |
C |
5: 122,938,587 (GRCm39) |
K383E |
probably damaging |
Het |
| Ano1 |
A |
G |
7: 144,207,987 (GRCm39) |
L258P |
probably damaging |
Het |
| Arb2a |
A |
G |
13: 78,147,756 (GRCm39) |
T321A |
possibly damaging |
Het |
| Arhgef10l |
A |
G |
4: 140,271,695 (GRCm39) |
S560P |
probably damaging |
Het |
| Arhgef40 |
T |
A |
14: 52,241,162 (GRCm39) |
L1395Q |
probably damaging |
Het |
| Arid1a |
A |
T |
4: 133,409,145 (GRCm39) |
D1787E |
unknown |
Het |
| Ces2h |
T |
C |
8: 105,745,030 (GRCm39) |
L388P |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,852,466 (GRCm39) |
N880I |
probably benign |
Het |
| Cryz |
T |
C |
3: 154,327,320 (GRCm39) |
V116A |
probably damaging |
Het |
| Csrp1 |
G |
A |
1: 135,678,366 (GRCm39) |
A159T |
probably damaging |
Het |
| Cyp4a12a |
A |
T |
4: 115,184,702 (GRCm39) |
I328F |
probably damaging |
Het |
| Cyth4 |
T |
G |
15: 78,492,371 (GRCm39) |
H133Q |
probably damaging |
Het |
| Ddah2 |
A |
G |
17: 35,279,402 (GRCm39) |
I88V |
possibly damaging |
Het |
| Dmbt1 |
T |
G |
7: 130,712,718 (GRCm39) |
I1563S |
possibly damaging |
Het |
| Dnajc22 |
T |
C |
15: 98,999,114 (GRCm39) |
S100P |
probably benign |
Het |
| Fancl |
T |
A |
11: 26,372,459 (GRCm39) |
D123E |
probably damaging |
Het |
| Fbxo30 |
A |
G |
10: 11,166,772 (GRCm39) |
Q498R |
probably damaging |
Het |
| Fgd4 |
T |
C |
16: 16,253,824 (GRCm39) |
H581R |
probably benign |
Het |
| Gm2663 |
T |
C |
6: 40,974,900 (GRCm39) |
Q57R |
probably benign |
Het |
| Gm7247 |
A |
T |
14: 51,602,804 (GRCm39) |
M47L |
possibly damaging |
Het |
| Gsdmc2 |
T |
A |
15: 63,699,975 (GRCm39) |
|
probably null |
Het |
| Hc |
A |
C |
2: 34,903,540 (GRCm39) |
F1038C |
probably damaging |
Het |
| Heatr1 |
C |
A |
13: 12,429,359 (GRCm39) |
Q890K |
possibly damaging |
Het |
| Hipk4 |
C |
A |
7: 27,228,429 (GRCm39) |
T293K |
probably damaging |
Het |
| Hp1bp3 |
C |
A |
4: 137,948,943 (GRCm39) |
A2E |
probably damaging |
Het |
| Il6 |
T |
C |
5: 30,219,945 (GRCm39) |
|
probably null |
Het |
| Itga6 |
A |
G |
2: 71,648,828 (GRCm39) |
D104G |
probably benign |
Het |
| Krt24 |
A |
G |
11: 99,173,277 (GRCm39) |
S293P |
probably damaging |
Het |
| Krt4 |
C |
T |
15: 101,829,086 (GRCm39) |
R309Q |
probably damaging |
Het |
| Krt40 |
A |
T |
11: 99,430,913 (GRCm39) |
W199R |
probably damaging |
Het |
| Lamc1 |
T |
C |
1: 153,118,378 (GRCm39) |
E931G |
probably benign |
Het |
| Lamp3 |
A |
T |
16: 19,519,961 (GRCm39) |
M74K |
probably benign |
Het |
| Lgalsl2 |
A |
G |
7: 5,362,573 (GRCm39) |
D68G |
probably benign |
Het |
| Magel2 |
G |
A |
7: 62,028,844 (GRCm39) |
V583I |
unknown |
Het |
| Marchf7 |
T |
A |
2: 60,059,384 (GRCm39) |
Y37* |
probably null |
Het |
| Mrpl36 |
A |
G |
13: 73,479,687 (GRCm39) |
K66E |
probably damaging |
Het |
| Mrps35 |
G |
T |
6: 146,962,982 (GRCm39) |
E229* |
probably null |
Het |
| Mtmr6 |
T |
C |
14: 60,536,441 (GRCm39) |
M557T |
probably benign |
Het |
| Myocd |
A |
T |
11: 65,077,854 (GRCm39) |
I647N |
probably damaging |
Het |
| Myom2 |
A |
C |
8: 15,181,151 (GRCm39) |
L1350F |
probably damaging |
Het |
| Nhsl3 |
A |
G |
4: 129,116,148 (GRCm39) |
S884P |
probably damaging |
Het |
| Nosip |
T |
A |
7: 44,726,033 (GRCm39) |
S197T |
probably benign |
Het |
| Npat |
A |
G |
9: 53,473,791 (GRCm39) |
K528E |
probably benign |
Het |
| Nyap2 |
A |
G |
1: 81,169,587 (GRCm39) |
T115A |
probably benign |
Het |
| Obi1 |
T |
A |
14: 104,759,978 (GRCm39) |
K24M |
probably damaging |
Het |
| Or10al6 |
A |
G |
17: 38,083,467 (GRCm39) |
R317G |
probably benign |
Het |
| Or4a72 |
A |
G |
2: 89,405,737 (GRCm39) |
V111A |
probably damaging |
Het |
| Or4c109 |
G |
T |
2: 88,818,489 (GRCm39) |
P19Q |
probably benign |
Het |
| Or51b6 |
T |
A |
7: 103,556,249 (GRCm39) |
V201D |
possibly damaging |
Het |
| Or5m3 |
A |
T |
2: 85,838,567 (GRCm39) |
Y149F |
probably damaging |
Het |
| Or8g55 |
A |
G |
9: 39,785,354 (GRCm39) |
Q261R |
probably benign |
Het |
| Orc1 |
T |
C |
4: 108,447,897 (GRCm39) |
V48A |
possibly damaging |
Het |
| Pde6d |
T |
C |
1: 86,474,438 (GRCm39) |
E69G |
probably damaging |
Het |
| Pdgfrb |
A |
T |
18: 61,216,406 (GRCm39) |
D1088V |
possibly damaging |
Het |
| Peg12 |
A |
G |
7: 62,113,386 (GRCm39) |
V237A |
probably benign |
Het |
| Phf8-ps |
T |
C |
17: 33,285,941 (GRCm39) |
N287S |
probably benign |
Het |
| Piezo1 |
A |
G |
8: 123,209,451 (GRCm39) |
F2371L |
probably benign |
Het |
| Podn |
T |
A |
4: 107,880,570 (GRCm39) |
S27C |
probably damaging |
Het |
| Pom121l2 |
A |
G |
13: 22,166,904 (GRCm39) |
M392V |
possibly damaging |
Het |
| Ppm1b |
A |
G |
17: 85,301,630 (GRCm39) |
K170R |
probably damaging |
Het |
| Rab18 |
A |
T |
18: 6,770,113 (GRCm39) |
|
probably null |
Het |
| Raet1d |
G |
A |
10: 22,246,911 (GRCm39) |
A80T |
probably damaging |
Het |
| Rfx7 |
T |
A |
9: 72,524,967 (GRCm39) |
V719E |
probably benign |
Het |
| Ror1 |
C |
T |
4: 100,265,038 (GRCm39) |
Q171* |
probably null |
Het |
| Rufy4 |
G |
A |
1: 74,180,106 (GRCm39) |
V454M |
possibly damaging |
Het |
| Ryr2 |
C |
T |
13: 11,866,074 (GRCm39) |
G292D |
possibly damaging |
Het |
| Ryr3 |
G |
T |
2: 112,611,410 (GRCm39) |
N2257K |
probably benign |
Het |
| Saal1 |
A |
G |
7: 46,348,913 (GRCm39) |
F306S |
possibly damaging |
Het |
| Sap18 |
A |
G |
14: 58,036,021 (GRCm39) |
N69S |
probably damaging |
Het |
| Sar1b |
A |
T |
11: 51,670,514 (GRCm39) |
|
probably null |
Het |
| Serpina3n |
G |
T |
12: 104,375,473 (GRCm39) |
V182L |
probably damaging |
Het |
| Setd3 |
A |
T |
12: 108,084,513 (GRCm39) |
H279Q |
probably damaging |
Het |
| Slc18a2 |
C |
A |
19: 59,264,937 (GRCm39) |
A307E |
possibly damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,064,725 (GRCm39) |
D193V |
probably damaging |
Het |
| Spire2 |
T |
C |
8: 124,059,657 (GRCm39) |
C52R |
probably damaging |
Het |
| Syne2 |
A |
T |
12: 76,121,353 (GRCm39) |
I5940F |
probably damaging |
Het |
| Sytl1 |
C |
T |
4: 132,983,471 (GRCm39) |
S355N |
probably damaging |
Het |
| Tarbp1 |
C |
T |
8: 127,154,853 (GRCm39) |
V1424I |
probably damaging |
Het |
| Tatdn3 |
A |
T |
1: 190,781,477 (GRCm39) |
|
probably null |
Het |
| Tbpl1 |
T |
A |
10: 22,583,576 (GRCm39) |
E131D |
probably damaging |
Het |
| Telo2 |
A |
T |
17: 25,324,382 (GRCm39) |
M501K |
probably damaging |
Het |
| Terb1 |
A |
G |
8: 105,179,331 (GRCm39) |
V619A |
probably benign |
Het |
| Tmem132e |
A |
G |
11: 82,335,989 (GRCm39) |
T1024A |
probably benign |
Het |
| Tmem30a |
T |
C |
9: 79,681,500 (GRCm39) |
D223G |
probably damaging |
Het |
| Tmprss11d |
A |
G |
5: 86,487,413 (GRCm39) |
V19A |
probably damaging |
Het |
| Tnks |
A |
T |
8: 35,318,260 (GRCm39) |
S872T |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,890,724 (GRCm39) |
S356G |
probably benign |
Het |
| Tob2 |
T |
C |
15: 81,735,400 (GRCm39) |
K190E |
probably damaging |
Het |
| Togaram1 |
T |
C |
12: 65,049,433 (GRCm39) |
V1240A |
possibly damaging |
Het |
| Trim13 |
T |
A |
14: 61,842,335 (GRCm39) |
C117* |
probably null |
Het |
| Trpv4 |
G |
A |
5: 114,772,666 (GRCm39) |
R308C |
probably damaging |
Het |
| Ttn |
C |
G |
2: 76,585,676 (GRCm39) |
D21987H |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,656,418 (GRCm39) |
|
probably null |
Het |
| Upp1 |
A |
T |
11: 9,083,240 (GRCm39) |
M111L |
possibly damaging |
Het |
| Vmn1r206 |
A |
T |
13: 22,804,358 (GRCm39) |
V283E |
probably damaging |
Het |
| Vmn2r79 |
G |
T |
7: 86,651,634 (GRCm39) |
L344F |
probably benign |
Het |
| Vmn2r93 |
T |
G |
17: 18,546,324 (GRCm39) |
I732S |
probably damaging |
Het |
| Vmn2r96 |
G |
T |
17: 18,804,263 (GRCm39) |
M504I |
probably benign |
Het |
| Vps39 |
T |
C |
2: 120,173,708 (GRCm39) |
Y147C |
probably damaging |
Het |
| Zbtb20 |
T |
A |
16: 43,398,015 (GRCm39) |
C35S |
possibly damaging |
Het |
| Zfp871 |
A |
T |
17: 32,993,751 (GRCm39) |
C475S |
probably damaging |
Het |
|
| Other mutations in Cttnbp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00954:Cttnbp2
|
APN |
6 |
18,381,061 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01014:Cttnbp2
|
APN |
6 |
18,423,894 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01148:Cttnbp2
|
APN |
6 |
18,382,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01903:Cttnbp2
|
APN |
6 |
18,501,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01906:Cttnbp2
|
APN |
6 |
18,378,375 (GRCm39) |
nonsense |
probably null |
|
|
IGL01994:Cttnbp2
|
APN |
6 |
18,420,814 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02212:Cttnbp2
|
APN |
6 |
18,382,748 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02696:Cttnbp2
|
APN |
6 |
18,434,128 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02813:Cttnbp2
|
APN |
6 |
18,367,537 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02864:Cttnbp2
|
APN |
6 |
18,374,548 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL03309:Cttnbp2
|
APN |
6 |
18,381,035 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Feelers
|
UTSW |
6 |
18,405,278 (GRCm39) |
splice site |
probably null |
|
|
warning
|
UTSW |
6 |
18,375,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB009:Cttnbp2
|
UTSW |
6 |
18,427,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB019:Cttnbp2
|
UTSW |
6 |
18,427,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4304:Cttnbp2
|
UTSW |
6 |
18,367,457 (GRCm39) |
utr 3 prime |
probably benign |
|
|
FR4449:Cttnbp2
|
UTSW |
6 |
18,367,461 (GRCm39) |
utr 3 prime |
probably benign |
|
|
FR4548:Cttnbp2
|
UTSW |
6 |
18,367,462 (GRCm39) |
utr 3 prime |
probably benign |
|
|
FR4589:Cttnbp2
|
UTSW |
6 |
18,367,457 (GRCm39) |
utr 3 prime |
probably benign |
|
|
FR4976:Cttnbp2
|
UTSW |
6 |
18,367,466 (GRCm39) |
utr 3 prime |
probably benign |
|
|
FR4976:Cttnbp2
|
UTSW |
6 |
18,367,460 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0165:Cttnbp2
|
UTSW |
6 |
18,435,409 (GRCm39) |
nonsense |
probably null |
|
|
R0382:Cttnbp2
|
UTSW |
6 |
18,435,342 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0464:Cttnbp2
|
UTSW |
6 |
18,408,690 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0550:Cttnbp2
|
UTSW |
6 |
18,435,308 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0571:Cttnbp2
|
UTSW |
6 |
18,381,102 (GRCm39) |
missense |
probably benign |
|
|
R0627:Cttnbp2
|
UTSW |
6 |
18,367,372 (GRCm39) |
makesense |
probably null |
|
|
R0788:Cttnbp2
|
UTSW |
6 |
18,423,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0826:Cttnbp2
|
UTSW |
6 |
18,405,177 (GRCm39) |
splice site |
probably benign |
|
|
R1319:Cttnbp2
|
UTSW |
6 |
18,434,629 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1476:Cttnbp2
|
UTSW |
6 |
18,434,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1572:Cttnbp2
|
UTSW |
6 |
18,375,974 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1596:Cttnbp2
|
UTSW |
6 |
18,408,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1607:Cttnbp2
|
UTSW |
6 |
18,435,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1633:Cttnbp2
|
UTSW |
6 |
18,435,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1634:Cttnbp2
|
UTSW |
6 |
18,408,656 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1661:Cttnbp2
|
UTSW |
6 |
18,434,982 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1665:Cttnbp2
|
UTSW |
6 |
18,434,982 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1834:Cttnbp2
|
UTSW |
6 |
18,501,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1853:Cttnbp2
|
UTSW |
6 |
18,408,601 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1855:Cttnbp2
|
UTSW |
6 |
18,378,412 (GRCm39) |
missense |
probably benign |
|
|
R2169:Cttnbp2
|
UTSW |
6 |
18,426,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2175:Cttnbp2
|
UTSW |
6 |
18,434,828 (GRCm39) |
splice site |
probably null |
|
|
R2202:Cttnbp2
|
UTSW |
6 |
18,408,693 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2203:Cttnbp2
|
UTSW |
6 |
18,408,693 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2204:Cttnbp2
|
UTSW |
6 |
18,408,693 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2205:Cttnbp2
|
UTSW |
6 |
18,408,693 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2371:Cttnbp2
|
UTSW |
6 |
18,380,603 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2416:Cttnbp2
|
UTSW |
6 |
18,448,285 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3414:Cttnbp2
|
UTSW |
6 |
18,389,204 (GRCm39) |
missense |
probably benign |
|
|
R3617:Cttnbp2
|
UTSW |
6 |
18,414,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3861:Cttnbp2
|
UTSW |
6 |
18,423,832 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3862:Cttnbp2
|
UTSW |
6 |
18,434,905 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3940:Cttnbp2
|
UTSW |
6 |
18,420,974 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3941:Cttnbp2
|
UTSW |
6 |
18,427,452 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4097:Cttnbp2
|
UTSW |
6 |
18,420,871 (GRCm39) |
missense |
probably benign |
|
|
R4211:Cttnbp2
|
UTSW |
6 |
18,427,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4353:Cttnbp2
|
UTSW |
6 |
18,514,703 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4367:Cttnbp2
|
UTSW |
6 |
18,405,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4651:Cttnbp2
|
UTSW |
6 |
18,434,037 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4652:Cttnbp2
|
UTSW |
6 |
18,434,037 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4660:Cttnbp2
|
UTSW |
6 |
18,406,536 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4975:Cttnbp2
|
UTSW |
6 |
18,406,525 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5064:Cttnbp2
|
UTSW |
6 |
18,448,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5205:Cttnbp2
|
UTSW |
6 |
18,427,432 (GRCm39) |
splice site |
probably benign |
|
|
R5305:Cttnbp2
|
UTSW |
6 |
18,381,097 (GRCm39) |
missense |
probably benign |
|
|
R5484:Cttnbp2
|
UTSW |
6 |
18,427,689 (GRCm39) |
intron |
probably benign |
|
|
R5629:Cttnbp2
|
UTSW |
6 |
18,405,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5763:Cttnbp2
|
UTSW |
6 |
18,414,298 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5766:Cttnbp2
|
UTSW |
6 |
18,381,032 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5942:Cttnbp2
|
UTSW |
6 |
18,448,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6073:Cttnbp2
|
UTSW |
6 |
18,448,368 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6073:Cttnbp2
|
UTSW |
6 |
18,434,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6163:Cttnbp2
|
UTSW |
6 |
18,434,950 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6545:Cttnbp2
|
UTSW |
6 |
18,405,278 (GRCm39) |
splice site |
probably null |
|
|
R6858:Cttnbp2
|
UTSW |
6 |
18,448,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7037:Cttnbp2
|
UTSW |
6 |
18,435,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7135:Cttnbp2
|
UTSW |
6 |
18,448,446 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7141:Cttnbp2
|
UTSW |
6 |
18,380,467 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7353:Cttnbp2
|
UTSW |
6 |
18,375,943 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7465:Cttnbp2
|
UTSW |
6 |
18,501,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7500:Cttnbp2
|
UTSW |
6 |
18,378,419 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7534:Cttnbp2
|
UTSW |
6 |
18,420,764 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7646:Cttnbp2
|
UTSW |
6 |
18,375,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7678:Cttnbp2
|
UTSW |
6 |
18,382,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7699:Cttnbp2
|
UTSW |
6 |
18,514,734 (GRCm39) |
start codon destroyed |
possibly damaging |
0.82 |
|
R7809:Cttnbp2
|
UTSW |
6 |
18,434,289 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7816:Cttnbp2
|
UTSW |
6 |
18,448,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7817:Cttnbp2
|
UTSW |
6 |
18,426,092 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7932:Cttnbp2
|
UTSW |
6 |
18,427,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8010:Cttnbp2
|
UTSW |
6 |
18,426,092 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8011:Cttnbp2
|
UTSW |
6 |
18,426,092 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8014:Cttnbp2
|
UTSW |
6 |
18,426,092 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8015:Cttnbp2
|
UTSW |
6 |
18,426,092 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8095:Cttnbp2
|
UTSW |
6 |
18,435,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8754:Cttnbp2
|
UTSW |
6 |
18,434,037 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8769:Cttnbp2
|
UTSW |
6 |
18,376,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8836:Cttnbp2
|
UTSW |
6 |
18,375,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8886:Cttnbp2
|
UTSW |
6 |
18,414,298 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8921:Cttnbp2
|
UTSW |
6 |
18,434,877 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8931:Cttnbp2
|
UTSW |
6 |
18,434,808 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8956:Cttnbp2
|
UTSW |
6 |
18,434,165 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9005:Cttnbp2
|
UTSW |
6 |
18,434,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9141:Cttnbp2
|
UTSW |
6 |
18,429,138 (GRCm39) |
nonsense |
probably null |
|
|
R9194:Cttnbp2
|
UTSW |
6 |
18,434,850 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9425:Cttnbp2
|
UTSW |
6 |
18,423,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9563:Cttnbp2
|
UTSW |
6 |
18,427,467 (GRCm39) |
nonsense |
probably null |
|
|
R9563:Cttnbp2
|
UTSW |
6 |
18,367,382 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9661:Cttnbp2
|
UTSW |
6 |
18,429,151 (GRCm39) |
missense |
|
|
|
R9763:Cttnbp2
|
UTSW |
6 |
18,435,240 (GRCm39) |
missense |
probably benign |
|
|
R9790:Cttnbp2
|
UTSW |
6 |
18,376,027 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9791:Cttnbp2
|
UTSW |
6 |
18,376,027 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1176:Cttnbp2
|
UTSW |
6 |
18,408,724 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1176:Cttnbp2
|
UTSW |
6 |
18,408,708 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Cttnbp2
|
UTSW |
6 |
18,501,959 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Cttnbp2
|
UTSW |
6 |
18,420,835 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCTTGAAGAAGCACCCGC -3'
(R):5'- ACTGCTCTACCTTCAAGTGCAAAC -3'
Sequencing Primer
(F):5'- CCGCTTGAGGGCTGGTAAATC -3'
(R):5'- GGCAATGCCCCTGATCTATCAAATAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation