Incidental Mutation 'R1476:Cttnbp2'
| ID |
164056 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cttnbp2
|
| Ensembl Gene |
ENSMUSG00000000416 |
| Gene Name |
cortactin binding protein 2 |
| Synonyms |
ORF4, Cortbp2, 4732477G22Rik, 9130022E09Rik, 3010022N24Rik |
| MMRRC Submission |
039529-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1476 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
18366477-18514842 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18434220 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 546
(K546R)
|
| 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: K546R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088089
Gene: ENSMUSG00000000416
AA Change: K546R
| 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 damaging
Transcript: ENSMUST00000146775
AA Change: K77R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119383
Gene: ENSMUSG00000000416
AA Change: K77R
| 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: K546R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118432
Gene: ENSMUSG00000000416
AA Change: K546R
| 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
|
| Meta Mutation Damage Score |
0.1879 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
| Validation Efficiency |
95% (80/84) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310033P09Rik |
A |
G |
11: 59,099,528 (GRCm39) |
|
probably benign |
Het |
| A730015C16Rik |
G |
A |
4: 108,705,205 (GRCm39) |
V40M |
probably damaging |
Het |
| Abcg2 |
A |
G |
6: 58,655,322 (GRCm39) |
D419G |
probably benign |
Het |
| Adamts17 |
A |
C |
7: 66,725,091 (GRCm39) |
E777A |
probably damaging |
Het |
| Ak1 |
A |
G |
2: 32,523,478 (GRCm39) |
K166R |
probably benign |
Het |
| Ankrd12 |
T |
C |
17: 66,293,300 (GRCm39) |
K711R |
probably damaging |
Het |
| Ate1 |
A |
T |
7: 130,020,301 (GRCm39) |
|
probably null |
Het |
| Atp5f1a |
A |
G |
18: 77,869,625 (GRCm39) |
H519R |
probably benign |
Het |
| Best1 |
G |
T |
19: 9,967,853 (GRCm39) |
Y284* |
probably null |
Het |
| C2cd6 |
A |
G |
1: 59,115,887 (GRCm39) |
|
probably benign |
Het |
| Casz1 |
G |
T |
4: 149,030,628 (GRCm39) |
V1216L |
probably benign |
Het |
| Cdc42bpg |
A |
G |
19: 6,363,812 (GRCm39) |
D493G |
probably damaging |
Het |
| Ces2f |
A |
G |
8: 105,679,134 (GRCm39) |
D317G |
possibly damaging |
Het |
| Chst15 |
A |
T |
7: 131,872,002 (GRCm39) |
M93K |
possibly damaging |
Het |
| Cntnap5a |
T |
C |
1: 115,828,750 (GRCm39) |
L58P |
probably damaging |
Het |
| Crip3 |
T |
C |
17: 46,741,702 (GRCm39) |
|
probably benign |
Het |
| Csmd2 |
G |
A |
4: 128,380,794 (GRCm39) |
E2117K |
probably benign |
Het |
| Cstf3 |
A |
G |
2: 104,478,564 (GRCm39) |
D212G |
possibly damaging |
Het |
| Cubn |
A |
G |
2: 13,480,931 (GRCm39) |
I308T |
probably benign |
Het |
| Cxcl9 |
T |
A |
5: 92,472,972 (GRCm39) |
D75V |
probably damaging |
Het |
| Dcdc5 |
C |
T |
2: 106,188,977 (GRCm39) |
|
noncoding transcript |
Het |
| Defa30 |
C |
A |
8: 21,624,752 (GRCm39) |
T25K |
possibly damaging |
Het |
| Dock7 |
A |
T |
4: 98,967,672 (GRCm39) |
H239Q |
possibly damaging |
Het |
| Dpp4 |
A |
G |
2: 62,178,245 (GRCm39) |
V629A |
possibly damaging |
Het |
| Fam83a |
T |
C |
15: 57,873,341 (GRCm39) |
M390T |
probably benign |
Het |
| Fem1c |
A |
G |
18: 46,657,552 (GRCm39) |
L54P |
probably damaging |
Het |
| Fntb |
T |
A |
12: 76,957,007 (GRCm39) |
M282K |
probably benign |
Het |
| Galnt2l |
A |
G |
8: 122,996,323 (GRCm39) |
|
probably benign |
Het |
| Gm11099 |
G |
A |
2: 58,749,482 (GRCm39) |
|
probably benign |
Het |
| Gm1527 |
T |
C |
3: 28,980,705 (GRCm39) |
S602P |
probably benign |
Het |
| Gm5478 |
T |
A |
15: 101,553,080 (GRCm39) |
I331F |
probably damaging |
Het |
| Gm7853 |
C |
A |
14: 35,811,540 (GRCm39) |
|
noncoding transcript |
Het |
| Gsta2 |
A |
T |
9: 78,249,147 (GRCm39) |
C18S |
probably benign |
Het |
| H1f8 |
T |
C |
6: 115,924,701 (GRCm39) |
V69A |
possibly damaging |
Het |
| Hecw1 |
T |
C |
13: 14,480,671 (GRCm39) |
E465G |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,415,548 (GRCm39) |
D4841G |
probably damaging |
Het |
| Hus1b |
A |
G |
13: 31,130,984 (GRCm39) |
V225A |
probably benign |
Het |
| Keg1 |
A |
T |
19: 12,693,387 (GRCm39) |
M137L |
probably benign |
Het |
| Kmt2a |
C |
T |
9: 44,735,932 (GRCm39) |
|
probably benign |
Het |
| Megf6 |
G |
T |
4: 154,261,578 (GRCm39) |
V68L |
probably benign |
Het |
| Mga |
T |
A |
2: 119,772,156 (GRCm39) |
V1672E |
probably damaging |
Het |
| Mios |
T |
C |
6: 8,234,237 (GRCm39) |
S803P |
probably benign |
Het |
| Mrtfa |
T |
C |
15: 80,902,409 (GRCm39) |
|
probably benign |
Het |
| Msh4 |
A |
T |
3: 153,569,021 (GRCm39) |
Y851N |
probably damaging |
Het |
| Mybl1 |
A |
C |
1: 9,742,886 (GRCm39) |
|
probably null |
Het |
| Myo5c |
A |
G |
9: 75,183,221 (GRCm39) |
Y865C |
probably damaging |
Het |
| Naip1 |
T |
C |
13: 100,563,378 (GRCm39) |
S596G |
probably benign |
Het |
| Nek5 |
G |
T |
8: 22,586,747 (GRCm39) |
Q355K |
possibly damaging |
Het |
| Nphp3 |
G |
T |
9: 103,903,126 (GRCm39) |
R701L |
possibly damaging |
Het |
| Or52n2 |
A |
T |
7: 104,542,444 (GRCm39) |
Y130* |
probably null |
Het |
| Or5j3 |
T |
C |
2: 86,128,823 (GRCm39) |
I221T |
probably damaging |
Het |
| Or5m10 |
T |
A |
2: 85,717,592 (GRCm39) |
Y149* |
probably null |
Het |
| Or5t9 |
T |
C |
2: 86,659,542 (GRCm39) |
S149P |
probably benign |
Het |
| Or9g4 |
T |
A |
2: 85,505,262 (GRCm39) |
T78S |
possibly damaging |
Het |
| Palm |
A |
G |
10: 79,651,021 (GRCm39) |
N149D |
possibly damaging |
Het |
| Pot1b |
T |
C |
17: 55,960,451 (GRCm39) |
I626M |
possibly damaging |
Het |
| Ptprt |
T |
A |
2: 161,769,404 (GRCm39) |
D487V |
probably damaging |
Het |
| Qpct |
A |
G |
17: 79,378,201 (GRCm39) |
I124V |
probably benign |
Het |
| Rbm12b1 |
T |
A |
4: 12,145,817 (GRCm39) |
D596E |
possibly damaging |
Het |
| Rnf157 |
A |
G |
11: 116,245,585 (GRCm39) |
C277R |
probably damaging |
Het |
| Rnf169 |
A |
G |
7: 99,574,535 (GRCm39) |
S687P |
possibly damaging |
Het |
| Sfxn1 |
T |
A |
13: 54,246,469 (GRCm39) |
|
probably null |
Het |
| Slc6a21 |
T |
C |
7: 44,922,052 (GRCm39) |
V649A |
probably benign |
Het |
| Slit3 |
A |
T |
11: 35,577,126 (GRCm39) |
T1120S |
probably damaging |
Het |
| Spem2 |
A |
T |
11: 69,708,896 (GRCm39) |
M58K |
probably benign |
Het |
| Sprr2k |
T |
A |
3: 92,340,703 (GRCm39) |
|
probably benign |
Het |
| Sspo |
T |
C |
6: 48,440,334 (GRCm39) |
|
probably null |
Het |
| Sv2b |
A |
T |
7: 74,769,791 (GRCm39) |
F584I |
possibly damaging |
Het |
| Tkfc |
A |
T |
19: 10,572,690 (GRCm39) |
M317K |
probably null |
Het |
| Tnni3k |
C |
T |
3: 154,735,942 (GRCm39) |
G134S |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,570,124 (GRCm39) |
R26923H |
probably damaging |
Het |
| Tuba3b |
T |
C |
6: 145,564,179 (GRCm39) |
V75A |
possibly damaging |
Het |
| Unc79 |
T |
C |
12: 103,149,784 (GRCm39) |
L2626P |
probably damaging |
Het |
| Usp24 |
A |
T |
4: 106,219,130 (GRCm39) |
I491F |
probably damaging |
Het |
| V1ra8 |
A |
T |
6: 90,180,132 (GRCm39) |
I112F |
probably damaging |
Het |
| Vmn1r29 |
T |
G |
6: 58,284,663 (GRCm39) |
F128V |
probably benign |
Het |
| Wdr87-ps |
A |
G |
7: 29,234,315 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp157 |
T |
A |
5: 138,453,357 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
R2018:Cttnbp2
|
UTSW |
6 |
18,434,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ACAAGGGAGCTGTCTGAACATGC -3'
(R):5'- CTGTCCAGATTTACCAGCCCTCAAG -3'
Sequencing Primer
(F):5'- TGCAGGTGCCACAGTTAAATC -3'
(R):5'- AGCGGGTGCTTCTTCAAGAC -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation