Incidental Mutation 'R1572:Cttnbp2'
| ID |
170834 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cttnbp2
|
| Ensembl Gene |
ENSMUSG00000000416 |
| Gene Name |
cortactin binding protein 2 |
| Synonyms |
ORF4, Cortbp2, 4732477G22Rik, 9130022E09Rik, 3010022N24Rik |
| MMRRC Submission |
039611-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1572 (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 18375974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 1522
(S1522G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088089
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090601]
[ENSMUST00000148602]
|
| AlphaFold |
B9EJA2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090601
AA Change: S1522G
PolyPhen 2
Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000088089
Gene: ENSMUSG00000000416
AA Change: S1522G
| 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 |
unknown
Transcript: ENSMUST00000146775
AA Change: S1012G
|
| SMART Domains |
Protein: ENSMUSP00000119383
Gene: ENSMUSG00000000416
AA Change: S1012G
| 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 benign
Transcript: ENSMUST00000148602
|
| SMART Domains |
Protein: ENSMUSP00000118432
Gene: ENSMUSG00000000416
| 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: ENSMUST00000152499
|
| Meta Mutation Damage Score |
0.0621 |
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 92.9%
- 20x: 80.7%
|
| Validation Efficiency |
97% (130/134) |
| 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: 112 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310030G06Rik |
G |
A |
9: 50,651,973 (GRCm39) |
T85M |
probably damaging |
Het |
| Actn1 |
A |
G |
12: 80,219,731 (GRCm39) |
|
probably benign |
Het |
| Afap1l1 |
A |
T |
18: 61,870,570 (GRCm39) |
S603T |
probably damaging |
Het |
| Ahcy |
T |
C |
2: 154,910,851 (GRCm39) |
Y39C |
probably benign |
Het |
| Ankmy2 |
T |
C |
12: 36,236,941 (GRCm39) |
|
probably null |
Het |
| Anxa13 |
A |
T |
15: 58,220,655 (GRCm39) |
|
noncoding transcript |
Het |
| Aoc1 |
T |
C |
6: 48,882,720 (GRCm39) |
S221P |
possibly damaging |
Het |
| Arhgef10 |
C |
A |
8: 15,041,211 (GRCm39) |
A770D |
possibly damaging |
Het |
| Arhgef19 |
A |
G |
4: 140,982,065 (GRCm39) |
D707G |
probably benign |
Het |
| Arhgef3 |
G |
A |
14: 27,123,692 (GRCm39) |
R444H |
probably damaging |
Het |
| Asphd1 |
T |
C |
7: 126,548,271 (GRCm39) |
I11V |
probably benign |
Het |
| Atp2b1 |
A |
G |
10: 98,830,537 (GRCm39) |
M333V |
probably benign |
Het |
| BC051665 |
T |
C |
13: 60,932,841 (GRCm39) |
Y40C |
probably damaging |
Het |
| Ccdc87 |
T |
A |
19: 4,890,341 (GRCm39) |
S278T |
probably benign |
Het |
| Ccn3 |
T |
A |
15: 54,612,648 (GRCm39) |
M219K |
possibly damaging |
Het |
| Cdcp3 |
T |
A |
7: 130,846,560 (GRCm39) |
Y777* |
probably null |
Het |
| Chaf1b |
G |
A |
16: 93,698,118 (GRCm39) |
G463D |
possibly damaging |
Het |
| Chrna4 |
T |
C |
2: 180,671,100 (GRCm39) |
T219A |
possibly damaging |
Het |
| Clcnkb |
T |
G |
4: 141,134,406 (GRCm39) |
T584P |
possibly damaging |
Het |
| Clptm1l |
T |
C |
13: 73,755,866 (GRCm39) |
S161P |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,230,777 (GRCm39) |
E1437G |
possibly damaging |
Het |
| Col13a1 |
A |
T |
10: 61,702,205 (GRCm39) |
|
probably null |
Het |
| Col3a1 |
T |
C |
1: 45,385,128 (GRCm39) |
S82P |
possibly damaging |
Het |
| Cpeb3 |
A |
T |
19: 37,116,482 (GRCm39) |
M383K |
probably benign |
Het |
| Cr2 |
T |
A |
1: 194,845,622 (GRCm39) |
H111L |
probably damaging |
Het |
| Cul3 |
T |
C |
1: 80,260,506 (GRCm39) |
D281G |
possibly damaging |
Het |
| Cyp2c70 |
T |
G |
19: 40,172,426 (GRCm39) |
K72T |
probably benign |
Het |
| Cyp39a1 |
A |
T |
17: 43,991,020 (GRCm39) |
I110F |
probably damaging |
Het |
| Cyp46a1 |
T |
A |
12: 108,318,198 (GRCm39) |
M203K |
probably null |
Het |
| Cyp8b1 |
A |
T |
9: 121,744,024 (GRCm39) |
V436D |
possibly damaging |
Het |
| Ddx17 |
T |
C |
15: 79,422,766 (GRCm39) |
D324G |
probably damaging |
Het |
| Dop1b |
A |
G |
16: 93,567,041 (GRCm39) |
N1274S |
probably damaging |
Het |
| Dscaml1 |
G |
A |
9: 45,632,631 (GRCm39) |
V1166I |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,379,714 (GRCm39) |
V1554A |
probably damaging |
Het |
| Efr3a |
T |
A |
15: 65,726,641 (GRCm39) |
|
probably null |
Het |
| Egfem1 |
A |
T |
3: 29,702,420 (GRCm39) |
N223I |
probably benign |
Het |
| Egr2 |
T |
C |
10: 67,375,805 (GRCm39) |
S147P |
probably damaging |
Het |
| Elmo3 |
A |
G |
8: 106,034,933 (GRCm39) |
T408A |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,883,908 (GRCm38) |
D378G |
probably damaging |
Het |
| Foxj2 |
T |
A |
6: 122,810,220 (GRCm39) |
M193K |
probably benign |
Het |
| Gm6327 |
A |
G |
16: 12,578,020 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7694 |
T |
C |
1: 170,130,335 (GRCm39) |
H21R |
probably benign |
Het |
| Gpr107 |
A |
G |
2: 31,057,037 (GRCm39) |
D43G |
probably damaging |
Het |
| Grid2 |
T |
A |
6: 64,406,678 (GRCm39) |
Y679* |
probably null |
Het |
| Grin2c |
G |
A |
11: 115,146,900 (GRCm39) |
P432S |
possibly damaging |
Het |
| H2-M10.1 |
A |
G |
17: 36,636,625 (GRCm39) |
F60L |
possibly damaging |
Het |
| Hectd4 |
A |
G |
5: 121,439,941 (GRCm39) |
D1147G |
possibly damaging |
Het |
| Idua |
G |
T |
5: 108,828,455 (GRCm39) |
A223S |
probably benign |
Het |
| Ifi206 |
T |
C |
1: 173,314,419 (GRCm39) |
Q7R |
probably benign |
Het |
| Itgad |
T |
A |
7: 127,802,406 (GRCm39) |
V986E |
probably damaging |
Het |
| Itsn2 |
G |
A |
12: 4,700,044 (GRCm39) |
R670H |
probably benign |
Het |
| Kdm4a |
T |
C |
4: 117,996,146 (GRCm39) |
E961G |
possibly damaging |
Het |
| Klra5 |
T |
A |
6: 129,883,585 (GRCm39) |
I91L |
probably damaging |
Het |
| Kntc1 |
A |
G |
5: 123,910,176 (GRCm39) |
T525A |
probably damaging |
Het |
| Lct |
A |
G |
1: 128,221,932 (GRCm39) |
F1536L |
probably benign |
Het |
| Lmod1 |
T |
A |
1: 135,291,671 (GRCm39) |
D175E |
probably benign |
Het |
| Lonrf1 |
A |
C |
8: 36,701,126 (GRCm39) |
D361E |
probably benign |
Het |
| Lrrc19 |
T |
C |
4: 94,526,666 (GRCm39) |
Y297C |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,873,431 (GRCm39) |
E1787G |
possibly damaging |
Het |
| Mpp2 |
G |
A |
11: 101,951,374 (GRCm39) |
A452V |
probably benign |
Het |
| Msh2 |
T |
C |
17: 88,026,080 (GRCm39) |
V686A |
possibly damaging |
Het |
| Mthfd1 |
C |
T |
12: 76,317,193 (GRCm39) |
Q15* |
probably null |
Het |
| Mtnr1b |
A |
T |
9: 15,774,438 (GRCm39) |
I207N |
probably damaging |
Het |
| Nid2 |
A |
G |
14: 19,855,480 (GRCm39) |
T1207A |
probably benign |
Het |
| Nin |
A |
T |
12: 70,085,524 (GRCm39) |
V1569D |
probably damaging |
Het |
| Nrcam |
T |
A |
12: 44,584,147 (GRCm39) |
|
probably benign |
Het |
| Nsd1 |
T |
A |
13: 55,394,782 (GRCm39) |
H897Q |
probably damaging |
Het |
| Or10g9 |
A |
G |
9: 39,912,490 (GRCm39) |
F11S |
probably benign |
Het |
| Or12d2 |
A |
T |
17: 37,624,371 (GRCm39) |
N301K |
probably benign |
Het |
| Or2w2 |
T |
A |
13: 21,758,480 (GRCm39) |
I49F |
possibly damaging |
Het |
| Or7d10 |
G |
T |
9: 19,832,208 (GRCm39) |
K234N |
probably benign |
Het |
| Paip1 |
T |
C |
13: 119,588,320 (GRCm39) |
|
probably benign |
Het |
| Pcnx3 |
G |
A |
19: 5,735,375 (GRCm39) |
R484* |
probably null |
Het |
| Pdxk |
A |
G |
10: 78,283,814 (GRCm39) |
Y127H |
probably damaging |
Het |
| Phf20 |
T |
A |
2: 156,129,754 (GRCm39) |
V442E |
probably benign |
Het |
| Phlpp1 |
G |
A |
1: 106,320,519 (GRCm39) |
D1505N |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,417,664 (GRCm39) |
T2496A |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,406,869 (GRCm39) |
T2369A |
probably benign |
Het |
| Plod2 |
T |
A |
9: 92,485,120 (GRCm39) |
|
probably benign |
Het |
| Pnpla7 |
T |
A |
2: 24,905,263 (GRCm39) |
M617K |
possibly damaging |
Het |
| Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
| Prkch |
T |
A |
12: 73,696,131 (GRCm39) |
|
probably null |
Het |
| Prr12 |
G |
A |
7: 44,678,224 (GRCm39) |
H1974Y |
unknown |
Het |
| Prr16 |
A |
G |
18: 51,436,042 (GRCm39) |
I174V |
probably benign |
Het |
| Prss45 |
A |
T |
9: 110,667,497 (GRCm39) |
T39S |
probably benign |
Het |
| Pum1 |
T |
A |
4: 130,445,515 (GRCm39) |
D161E |
probably damaging |
Het |
| Rad51ap2 |
A |
G |
12: 11,507,113 (GRCm39) |
D345G |
probably damaging |
Het |
| Ralgapb |
A |
G |
2: 158,288,119 (GRCm39) |
|
probably benign |
Het |
| Rasgrp3 |
A |
G |
17: 75,807,729 (GRCm39) |
H262R |
possibly damaging |
Het |
| Rnf213 |
T |
A |
11: 119,327,437 (GRCm39) |
I1809N |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,761,616 (GRCm39) |
L3177P |
probably damaging |
Het |
| Scyl2 |
C |
A |
10: 89,486,818 (GRCm39) |
R230L |
probably damaging |
Het |
| Sfxn2 |
T |
C |
19: 46,570,915 (GRCm39) |
|
probably benign |
Het |
| Slc18b1 |
T |
C |
10: 23,674,639 (GRCm39) |
|
probably benign |
Het |
| Spata31d1d |
T |
C |
13: 59,876,005 (GRCm39) |
H510R |
probably benign |
Het |
| Stab1 |
A |
T |
14: 30,872,780 (GRCm39) |
N1109K |
probably damaging |
Het |
| Styxl2 |
C |
T |
1: 165,927,024 (GRCm39) |
V863M |
possibly damaging |
Het |
| Sult3a2 |
A |
G |
10: 33,657,973 (GRCm39) |
S47P |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,682,028 (GRCm39) |
N2518S |
possibly damaging |
Het |
| Tex21 |
G |
T |
12: 76,253,665 (GRCm39) |
P416Q |
probably benign |
Het |
| Tex38 |
T |
C |
4: 115,637,503 (GRCm39) |
N100S |
probably benign |
Het |
| Thsd4 |
A |
C |
9: 60,301,836 (GRCm39) |
|
probably benign |
Het |
| Ticrr |
T |
C |
7: 79,331,572 (GRCm39) |
V723A |
probably damaging |
Het |
| Tmprss15 |
A |
G |
16: 78,887,717 (GRCm39) |
V30A |
probably benign |
Het |
| Uba3 |
A |
G |
6: 97,162,298 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
T |
C |
2: 120,765,800 (GRCm39) |
|
probably benign |
Het |
| Uchl4 |
A |
T |
9: 64,143,013 (GRCm39) |
I165L |
probably benign |
Het |
| Vmn2r112 |
A |
T |
17: 22,822,125 (GRCm39) |
T268S |
possibly damaging |
Het |
| Wfdc3 |
T |
C |
2: 164,586,114 (GRCm39) |
|
probably benign |
Het |
| Zfp282 |
T |
A |
6: 47,869,801 (GRCm39) |
L282Q |
probably damaging |
Het |
| Zfp422 |
A |
T |
6: 116,603,745 (GRCm39) |
C85S |
probably damaging |
Het |
| Zfp790 |
A |
T |
7: 29,527,564 (GRCm39) |
Q83L |
probably benign |
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 |
|
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'- GAGCAAAGCAAAGGATGACTCGATCTAT -3'
(R):5'- GGCTGTTGTTGCACTGGATGACT -3'
Sequencing Primer
(F):5'- GGATGACTCGATCTATAGCATCAAC -3'
(R):5'- TCTCAAAGTTCAGAAGGTAGAGTGTC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation