Incidental Mutation 'R7135:Cttnbp2'
| ID |
552990 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cttnbp2
|
| Ensembl Gene |
ENSMUSG00000000416 |
| Gene Name |
cortactin binding protein 2 |
| Synonyms |
ORF4, Cortbp2, 4732477G22Rik, 9130022E09Rik, 3010022N24Rik |
| MMRRC Submission |
045247-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7135 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
18366477-18514842 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18448446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 71
(I71T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088089
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090601]
[ENSMUST00000129669]
[ENSMUST00000142963]
[ENSMUST00000148602]
|
| AlphaFold |
B9EJA2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090601
AA Change: I71T
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000088089
Gene: ENSMUSG00000000416
AA Change: I71T
| 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 |
possibly damaging
Transcript: ENSMUST00000129669
AA Change: I29T
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000116878
Gene: ENSMUSG00000000416
AA Change: I29T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CortBP2
|
1 |
100 |
4.6e-44 |
PFAM |
|
Pfam:CortBP2
|
92 |
138 |
3.2e-13 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142963
AA Change: I29T
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000122590
Gene: ENSMUSG00000000416
AA Change: I29T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CortBP2
|
1 |
94 |
1.8e-43 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000148602
AA Change: I71T
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000118432
Gene: ENSMUSG00000000416
AA Change: I71T
| 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 |
|
| Meta Mutation Damage Score |
0.2195 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (83/83) |
| 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: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
T |
A |
17: 45,819,887 (GRCm39) |
Y221* |
probably null |
Het |
| AC166344.1 |
T |
A |
14: 43,158,245 (GRCm39) |
F97I |
|
Het |
| Ankmy2 |
T |
C |
12: 36,246,311 (GRCm39) |
S412P |
probably benign |
Het |
| Ap1s3 |
T |
C |
1: 79,586,919 (GRCm39) |
T144A |
probably benign |
Het |
| Armh2 |
T |
C |
13: 24,925,489 (GRCm39) |
S78P |
probably benign |
Het |
| Asb3 |
T |
A |
11: 30,948,501 (GRCm39) |
L59* |
probably null |
Het |
| Asxl3 |
G |
T |
18: 22,650,758 (GRCm39) |
G916* |
probably null |
Het |
| Asxl3 |
G |
C |
18: 22,650,759 (GRCm39) |
G916A |
probably damaging |
Het |
| Birc2 |
A |
C |
9: 7,818,762 (GRCm39) |
F610V |
probably damaging |
Het |
| Camk4 |
G |
A |
18: 33,240,996 (GRCm39) |
|
probably null |
Het |
| Ccdc162 |
A |
G |
10: 41,549,855 (GRCm39) |
S343P |
probably benign |
Het |
| Ccnk |
T |
A |
12: 108,152,734 (GRCm39) |
L17Q |
probably damaging |
Het |
| Cd59b |
G |
A |
2: 103,914,792 (GRCm39) |
W63* |
probably null |
Het |
| Chrm3 |
C |
T |
13: 9,927,837 (GRCm39) |
V400I |
probably benign |
Het |
| Crb1 |
C |
A |
1: 139,171,105 (GRCm39) |
V762F |
probably damaging |
Het |
| Cspp1 |
C |
T |
1: 10,159,161 (GRCm39) |
T529I |
possibly damaging |
Het |
| Cyb561 |
C |
A |
11: 105,826,393 (GRCm39) |
G90V |
probably damaging |
Het |
| Cyld |
T |
A |
8: 89,471,520 (GRCm39) |
D804E |
possibly damaging |
Het |
| Ddx31 |
G |
A |
2: 28,738,318 (GRCm39) |
V160I |
probably benign |
Het |
| Dgkg |
T |
C |
16: 22,319,132 (GRCm39) |
D643G |
probably damaging |
Het |
| Dnah12 |
T |
G |
14: 26,523,370 (GRCm39) |
I1953S |
probably damaging |
Het |
| Dnah12 |
G |
A |
14: 26,500,869 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
T |
C |
1: 46,178,870 (GRCm39) |
W848R |
probably damaging |
Het |
| Dnah7c |
C |
T |
1: 46,572,368 (GRCm39) |
T947M |
probably damaging |
Het |
| Dnmt3c |
C |
A |
2: 153,556,872 (GRCm39) |
|
probably null |
Het |
| Dsp |
A |
T |
13: 38,363,049 (GRCm39) |
Y443F |
probably damaging |
Het |
| Espl1 |
T |
A |
15: 102,227,959 (GRCm39) |
C1603* |
probably null |
Het |
| Faiml |
G |
T |
9: 99,116,496 (GRCm39) |
R65S |
probably benign |
Het |
| Gfpt2 |
T |
C |
11: 49,695,782 (GRCm39) |
I4T |
probably damaging |
Het |
| Gm10376 |
T |
A |
14: 42,867,950 (GRCm39) |
M179L |
probably benign |
Het |
| Gm4302 |
T |
A |
10: 100,177,589 (GRCm39) |
M291K |
unknown |
Het |
| Gnb1l |
T |
A |
16: 18,363,918 (GRCm39) |
D154E |
probably benign |
Het |
| Igkv10-94 |
T |
C |
6: 68,681,727 (GRCm39) |
R38G |
possibly damaging |
Het |
| Inmt |
A |
T |
6: 55,148,013 (GRCm39) |
Y205* |
probably null |
Het |
| Krba1 |
A |
G |
6: 48,393,233 (GRCm39) |
Q1049R |
probably benign |
Het |
| Lpxn |
T |
A |
19: 12,810,683 (GRCm39) |
C376S |
probably damaging |
Het |
| Lrrc52 |
T |
A |
1: 167,294,019 (GRCm39) |
I89F |
probably damaging |
Het |
| Map9 |
A |
T |
3: 82,270,765 (GRCm39) |
T110S |
probably benign |
Het |
| Mccc1 |
T |
C |
3: 36,049,967 (GRCm39) |
Y75C |
probably damaging |
Het |
| Mff |
T |
A |
1: 82,724,812 (GRCm39) |
L203* |
probably null |
Het |
| Micall1 |
C |
A |
15: 78,993,624 (GRCm39) |
D47E |
unknown |
Het |
| Mink1 |
T |
C |
11: 70,494,329 (GRCm39) |
F243S |
probably damaging |
Het |
| Mlycd |
C |
T |
8: 120,129,216 (GRCm39) |
R228W |
probably damaging |
Het |
| Msr1 |
A |
T |
8: 40,042,465 (GRCm39) |
V370E |
possibly damaging |
Het |
| Naip6 |
T |
C |
13: 100,436,927 (GRCm39) |
E532G |
probably damaging |
Het |
| Nepn |
G |
A |
10: 52,267,815 (GRCm39) |
C27Y |
probably damaging |
Het |
| Ninl |
T |
C |
2: 150,797,524 (GRCm39) |
H592R |
probably benign |
Het |
| Nr4a2 |
A |
G |
2: 57,002,261 (GRCm39) |
M64T |
possibly damaging |
Het |
| Oprm1 |
A |
T |
10: 6,780,203 (GRCm39) |
I171F |
possibly damaging |
Het |
| Or4g16 |
T |
A |
2: 111,137,365 (GRCm39) |
F272I |
probably benign |
Het |
| Or5p60 |
T |
C |
7: 107,723,781 (GRCm39) |
K230E |
probably damaging |
Het |
| Pcbp1 |
A |
T |
6: 86,502,488 (GRCm39) |
M137K |
possibly damaging |
Het |
| Pcf11 |
A |
T |
7: 92,306,524 (GRCm39) |
S1215T |
probably benign |
Het |
| Pdlim5 |
A |
T |
3: 142,017,683 (GRCm39) |
|
probably null |
Het |
| Pecam1 |
T |
C |
11: 106,579,857 (GRCm39) |
I402V |
probably damaging |
Het |
| Pex12 |
T |
C |
11: 83,188,468 (GRCm39) |
T176A |
probably benign |
Het |
| Phf3 |
T |
C |
1: 30,870,190 (GRCm39) |
K286R |
possibly damaging |
Het |
| Pik3ap1 |
T |
A |
19: 41,320,760 (GRCm39) |
D153V |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,448,374 (GRCm39) |
|
probably null |
Het |
| Plekhn1 |
A |
G |
4: 156,307,792 (GRCm39) |
V378A |
probably benign |
Het |
| Pramel26 |
A |
T |
4: 143,537,233 (GRCm39) |
L366Q |
probably damaging |
Het |
| Ptprm |
A |
T |
17: 67,251,283 (GRCm39) |
D531E |
possibly damaging |
Het |
| Pum2 |
A |
T |
12: 8,778,952 (GRCm39) |
Q508L |
possibly damaging |
Het |
| Rad54l |
A |
G |
4: 115,963,027 (GRCm39) |
S324P |
probably damaging |
Het |
| Recql5 |
C |
T |
11: 115,821,498 (GRCm39) |
|
probably null |
Het |
| Reln |
A |
T |
5: 22,181,594 (GRCm39) |
V1763D |
possibly damaging |
Het |
| Rp1 |
T |
C |
1: 4,418,391 (GRCm39) |
N907S |
possibly damaging |
Het |
| Scaf11 |
T |
A |
15: 96,318,209 (GRCm39) |
N452Y |
possibly damaging |
Het |
| Scgb2b3 |
T |
A |
7: 31,059,639 (GRCm39) |
H45L |
possibly damaging |
Het |
| Sim1 |
A |
G |
10: 50,772,023 (GRCm39) |
T11A |
probably damaging |
Het |
| Slc5a12 |
T |
A |
2: 110,447,059 (GRCm39) |
M189K |
possibly damaging |
Het |
| Slco2b1 |
C |
T |
7: 99,344,270 (GRCm39) |
G10S |
probably null |
Het |
| Speer1j |
C |
T |
5: 11,555,198 (GRCm39) |
P83S |
probably damaging |
Het |
| Stxbp3 |
A |
G |
3: 108,708,071 (GRCm39) |
L410P |
probably damaging |
Het |
| Sugct |
T |
C |
13: 17,476,594 (GRCm39) |
N297D |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,183,409 (GRCm39) |
I4132T |
probably benign |
Het |
| Teddm1b |
A |
T |
1: 153,750,912 (GRCm39) |
L240F |
probably damaging |
Het |
| Tlr5 |
C |
A |
1: 182,803,088 (GRCm39) |
D797E |
possibly damaging |
Het |
| Tmprss13 |
G |
T |
9: 45,249,643 (GRCm39) |
G327C |
probably damaging |
Het |
| Tnrc18 |
G |
T |
5: 142,773,572 (GRCm39) |
A419D |
|
Het |
| Ttc28 |
T |
C |
5: 111,427,873 (GRCm39) |
Y1790H |
probably damaging |
Het |
| Vmn1r125 |
T |
G |
7: 21,006,327 (GRCm39) |
M75R |
probably damaging |
Het |
| Vwa3a |
T |
A |
7: 120,372,253 (GRCm39) |
D276E |
possibly damaging |
Het |
| Wdfy3 |
C |
T |
5: 102,063,303 (GRCm39) |
V1322M |
probably damaging |
Het |
| Wdr11 |
T |
C |
7: 129,229,830 (GRCm39) |
S872P |
possibly damaging |
Het |
| Zc3h13 |
T |
C |
14: 75,559,161 (GRCm39) |
S357P |
unknown |
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 |
|
|
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 |
|
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'- AACAGATGACGTCTCAGTACC -3'
(R):5'- CTTTCCAGGCTTGTCAGGAC -3'
Sequencing Primer
(F):5'- CTCTCAGCGGCCACCAG -3'
(R):5'- CTTGTCAGGACTGGGGCTC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation