Incidental Mutation 'R4913:Cc2d2a'
| ID |
379691 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cc2d2a
|
| Ensembl Gene |
ENSMUSG00000039765 |
| Gene Name |
coiled-coil and C2 domain containing 2A |
| Synonyms |
b2b1035Clo, 5730509K17Rik |
| MMRRC Submission |
042515-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.914)
|
| Stock # |
R4913 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
43819715-43898317 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 43896665 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 1521
(I1521F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048150]
[ENSMUST00000125866]
|
| AlphaFold |
Q8CFW7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048150
AA Change: I1521F
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765
AA Change: I1521F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
217 |
N/A |
INTRINSIC |
|
coiled coil region
|
472 |
501 |
N/A |
INTRINSIC |
|
coiled coil region
|
553 |
582 |
N/A |
INTRINSIC |
|
Pfam:CC2D2AN-C2
|
645 |
817 |
2e-36 |
PFAM |
|
low complexity region
|
1005 |
1017 |
N/A |
INTRINSIC |
|
low complexity region
|
1024 |
1036 |
N/A |
INTRINSIC |
|
C2
|
1048 |
1208 |
3.43e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125866
|
| SMART Domains |
Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
168 |
N/A |
INTRINSIC |
|
coiled coil region
|
423 |
452 |
N/A |
INTRINSIC |
|
coiled coil region
|
504 |
533 |
N/A |
INTRINSIC |
|
Pfam:CC2D2AN-C2
|
596 |
768 |
7.7e-44 |
PFAM |
|
low complexity region
|
970 |
982 |
N/A |
INTRINSIC |
|
C2
|
994 |
1154 |
2.3e-7 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality with multiorgan defects related to cilia biogenesis. Homozygotes for a gene trap allele show randomized body axis, holoprosencephaly, and microphthalmia. Homozygotes for an ENU-induced allele show heterotaxia, congenital heart anomalies, kidney and eye defects, polydactyly, and cleft palate. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(5) : Targeted, other(4) Gene trapped(1) |
| Other mutations in this stock |
Total: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
T |
A |
4: 144,255,381 (GRCm39) |
M267K |
possibly damaging |
Het |
| Acsm5 |
T |
C |
7: 119,133,566 (GRCm39) |
S244P |
probably damaging |
Het |
| Actr6 |
A |
G |
10: 89,550,808 (GRCm39) |
F329L |
probably benign |
Het |
| Actrt3 |
A |
G |
3: 30,652,588 (GRCm39) |
S169P |
probably benign |
Het |
| Agtpbp1 |
C |
A |
13: 59,647,886 (GRCm39) |
G645C |
probably damaging |
Het |
| AI661453 |
C |
T |
17: 47,779,480 (GRCm39) |
R1069* |
probably null |
Het |
| Akr1c6 |
T |
C |
13: 4,504,524 (GRCm39) |
I303T |
probably benign |
Het |
| Arnt |
A |
G |
3: 95,397,965 (GRCm39) |
R588G |
probably damaging |
Het |
| Atf1 |
A |
G |
15: 100,149,979 (GRCm39) |
|
probably null |
Het |
| Casp12 |
T |
C |
9: 5,358,726 (GRCm39) |
V318A |
probably damaging |
Het |
| Cblb |
C |
T |
16: 51,986,392 (GRCm39) |
P545L |
possibly damaging |
Het |
| Ccn2 |
T |
C |
10: 24,473,225 (GRCm39) |
C255R |
probably damaging |
Het |
| Ccnb1ip1 |
T |
A |
14: 51,029,601 (GRCm39) |
K154* |
probably null |
Het |
| Cd300a |
A |
T |
11: 114,784,198 (GRCm39) |
K69* |
probably null |
Het |
| Cdin1 |
A |
G |
2: 115,500,568 (GRCm39) |
|
probably null |
Het |
| Clec10a |
A |
G |
11: 70,060,851 (GRCm39) |
Y78C |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,489,695 (GRCm39) |
I503V |
possibly damaging |
Het |
| Cpa2 |
A |
G |
6: 30,554,292 (GRCm39) |
H304R |
probably damaging |
Het |
| Crb2 |
A |
T |
2: 37,680,257 (GRCm39) |
H395L |
probably benign |
Het |
| Dnah8 |
T |
A |
17: 31,038,113 (GRCm39) |
N4257K |
probably damaging |
Het |
| Dnase2a |
G |
A |
8: 85,635,477 (GRCm39) |
D25N |
probably damaging |
Het |
| Drd1 |
T |
C |
13: 54,207,186 (GRCm39) |
T343A |
probably benign |
Het |
| Emid1 |
G |
A |
11: 5,082,012 (GRCm39) |
T161I |
probably benign |
Het |
| Epn2 |
A |
G |
11: 61,425,402 (GRCm39) |
|
probably null |
Het |
| Esp36 |
A |
T |
17: 38,728,055 (GRCm39) |
N75K |
possibly damaging |
Het |
| Faf1 |
A |
G |
4: 109,792,746 (GRCm39) |
S573G |
possibly damaging |
Het |
| Fam149a |
T |
G |
8: 45,806,920 (GRCm39) |
S231R |
probably damaging |
Het |
| Fam78a |
T |
C |
2: 31,959,774 (GRCm39) |
E112G |
probably damaging |
Het |
| Fgf18 |
T |
C |
11: 33,084,316 (GRCm39) |
D46G |
probably benign |
Het |
| Fggy |
G |
A |
4: 95,585,313 (GRCm39) |
|
probably null |
Het |
| Foxb1 |
T |
C |
9: 69,666,859 (GRCm39) |
M224V |
probably benign |
Het |
| Gpr75 |
T |
C |
11: 30,841,808 (GRCm39) |
C238R |
possibly damaging |
Het |
| Gsdmc3 |
A |
G |
15: 63,730,122 (GRCm39) |
*481R |
probably null |
Het |
| H2az2 |
C |
A |
11: 6,383,750 (GRCm39) |
A57S |
probably damaging |
Het |
| Hsd17b11 |
T |
C |
5: 104,140,748 (GRCm39) |
I250V |
probably benign |
Het |
| Hus1 |
C |
A |
11: 8,946,856 (GRCm39) |
L280F |
probably benign |
Het |
| Ide |
A |
T |
19: 37,306,469 (GRCm39) |
H101Q |
unknown |
Het |
| Ido1 |
T |
C |
8: 25,074,533 (GRCm39) |
D279G |
probably benign |
Het |
| Inpp5b |
T |
C |
4: 124,674,214 (GRCm39) |
V307A |
probably benign |
Het |
| Ipo5 |
G |
A |
14: 121,172,498 (GRCm39) |
V519I |
probably damaging |
Het |
| Krba1 |
T |
C |
6: 48,383,891 (GRCm39) |
V239A |
probably benign |
Het |
| Lmod3 |
A |
G |
6: 97,224,125 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,393,682 (GRCm39) |
D836G |
probably damaging |
Het |
| Malt1 |
G |
T |
18: 65,609,351 (GRCm39) |
C774F |
probably damaging |
Het |
| Map2k4 |
C |
A |
11: 65,600,758 (GRCm39) |
D58Y |
probably damaging |
Het |
| Mc2r |
T |
C |
18: 68,540,411 (GRCm39) |
N294S |
probably benign |
Het |
| Mybpc1 |
A |
G |
10: 88,389,116 (GRCm39) |
|
probably null |
Het |
| Mybpc3 |
A |
G |
2: 90,956,609 (GRCm39) |
E637G |
possibly damaging |
Het |
| Narf |
A |
G |
11: 121,135,469 (GRCm39) |
Q107R |
probably damaging |
Het |
| Nlrp3 |
G |
A |
11: 59,440,064 (GRCm39) |
G547D |
probably benign |
Het |
| Nucb2 |
G |
T |
7: 116,123,540 (GRCm39) |
G51* |
probably null |
Het |
| Or10al5 |
T |
A |
17: 38,063,315 (GRCm39) |
V190D |
possibly damaging |
Het |
| Otog |
C |
A |
7: 45,913,526 (GRCm39) |
D786E |
probably benign |
Het |
| Otogl |
T |
C |
10: 107,712,716 (GRCm39) |
T543A |
probably damaging |
Het |
| Pgap6 |
T |
C |
17: 26,339,513 (GRCm39) |
F584L |
probably damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,476,704 (GRCm39) |
N266S |
probably benign |
Het |
| Pink1 |
G |
T |
4: 138,042,866 (GRCm39) |
S446* |
probably null |
Het |
| Pkp4 |
T |
G |
2: 59,135,794 (GRCm39) |
H186Q |
probably damaging |
Het |
| Prl3b1 |
T |
C |
13: 27,433,460 (GRCm39) |
V205A |
probably damaging |
Het |
| Prss32 |
T |
C |
17: 24,078,157 (GRCm39) |
V281A |
probably damaging |
Het |
| Psd3 |
C |
T |
8: 68,573,821 (GRCm39) |
C120Y |
probably damaging |
Het |
| Ptcra |
A |
G |
17: 47,069,574 (GRCm39) |
L99P |
probably damaging |
Het |
| Rab3gap2 |
C |
T |
1: 184,995,026 (GRCm39) |
T855I |
probably benign |
Het |
| Rabgap1l |
T |
C |
1: 160,066,111 (GRCm39) |
E199G |
probably damaging |
Het |
| Rbm44 |
T |
A |
1: 91,083,216 (GRCm39) |
C580S |
probably damaging |
Het |
| Resf1 |
C |
G |
6: 149,230,887 (GRCm39) |
S1311C |
probably damaging |
Het |
| Rhoq |
T |
C |
17: 87,302,493 (GRCm39) |
V143A |
probably benign |
Het |
| Sacs |
T |
A |
14: 61,451,246 (GRCm39) |
Y4431N |
probably benign |
Het |
| Sec24b |
A |
T |
3: 129,796,028 (GRCm39) |
S367T |
probably benign |
Het |
| Sema4c |
G |
A |
1: 36,589,266 (GRCm39) |
S620F |
probably benign |
Het |
| Slc12a1 |
G |
A |
2: 125,070,670 (GRCm39) |
G1054E |
probably damaging |
Het |
| Slc16a3 |
A |
G |
11: 120,848,794 (GRCm39) |
R417G |
probably benign |
Het |
| Slc22a29 |
A |
T |
19: 8,195,722 (GRCm39) |
S106T |
probably benign |
Het |
| Slc41a2 |
T |
C |
10: 83,149,284 (GRCm39) |
T220A |
probably damaging |
Het |
| Tap1 |
T |
C |
17: 34,412,468 (GRCm39) |
F474L |
possibly damaging |
Het |
| Tas2r106 |
G |
T |
6: 131,655,422 (GRCm39) |
A143D |
probably benign |
Het |
| Tbx6 |
A |
T |
7: 126,383,707 (GRCm39) |
|
probably null |
Het |
| Tfap2a |
T |
A |
13: 40,870,706 (GRCm39) |
N402I |
probably damaging |
Het |
| Tle3 |
T |
A |
9: 61,281,275 (GRCm39) |
V22E |
probably damaging |
Het |
| Trip4 |
T |
C |
9: 65,765,639 (GRCm39) |
I353M |
probably damaging |
Het |
| Ubr2 |
C |
A |
17: 47,270,385 (GRCm39) |
|
probably null |
Het |
| Ugdh |
A |
G |
5: 65,580,791 (GRCm39) |
|
probably null |
Het |
| Uhrf1 |
T |
C |
17: 56,622,478 (GRCm39) |
V431A |
probably damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Zfp820 |
T |
C |
17: 22,038,200 (GRCm39) |
K376R |
probably benign |
Het |
|
| Other mutations in Cc2d2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00392:Cc2d2a
|
APN |
5 |
43,881,722 (GRCm39) |
splice site |
probably benign |
|
|
IGL00937:Cc2d2a
|
APN |
5 |
43,845,464 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01322:Cc2d2a
|
APN |
5 |
43,846,345 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01349:Cc2d2a
|
APN |
5 |
43,881,126 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01448:Cc2d2a
|
APN |
5 |
43,841,527 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL01871:Cc2d2a
|
APN |
5 |
43,846,311 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01947:Cc2d2a
|
APN |
5 |
43,845,579 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01976:Cc2d2a
|
APN |
5 |
43,840,457 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02113:Cc2d2a
|
APN |
5 |
43,842,590 (GRCm39) |
splice site |
probably null |
|
|
IGL02364:Cc2d2a
|
APN |
5 |
43,892,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02448:Cc2d2a
|
APN |
5 |
43,840,547 (GRCm39) |
splice site |
probably benign |
|
|
IGL02458:Cc2d2a
|
APN |
5 |
43,875,896 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02542:Cc2d2a
|
APN |
5 |
43,846,252 (GRCm39) |
splice site |
probably benign |
|
|
IGL02834:Cc2d2a
|
APN |
5 |
43,871,863 (GRCm39) |
nonsense |
probably null |
|
|
IGL02940:Cc2d2a
|
APN |
5 |
43,885,636 (GRCm39) |
splice site |
probably null |
|
|
IGL03003:Cc2d2a
|
APN |
5 |
43,828,608 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL03183:Cc2d2a
|
APN |
5 |
43,889,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
C9142:Cc2d2a
|
UTSW |
5 |
43,892,799 (GRCm39) |
splice site |
probably benign |
|
|
P0028:Cc2d2a
|
UTSW |
5 |
43,841,541 (GRCm39) |
missense |
probably benign |
|
|
R0193:Cc2d2a
|
UTSW |
5 |
43,893,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0201:Cc2d2a
|
UTSW |
5 |
43,894,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0211:Cc2d2a
|
UTSW |
5 |
43,845,608 (GRCm39) |
splice site |
probably null |
|
|
R0243:Cc2d2a
|
UTSW |
5 |
43,853,980 (GRCm39) |
splice site |
probably benign |
|
|
R0317:Cc2d2a
|
UTSW |
5 |
43,864,243 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0453:Cc2d2a
|
UTSW |
5 |
43,860,636 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0558:Cc2d2a
|
UTSW |
5 |
43,881,729 (GRCm39) |
splice site |
probably benign |
|
|
R0624:Cc2d2a
|
UTSW |
5 |
43,887,371 (GRCm39) |
missense |
probably benign |
|
|
R0634:Cc2d2a
|
UTSW |
5 |
43,838,723 (GRCm39) |
splice site |
probably benign |
|
|
R1503:Cc2d2a
|
UTSW |
5 |
43,852,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1635:Cc2d2a
|
UTSW |
5 |
43,879,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1686:Cc2d2a
|
UTSW |
5 |
43,896,713 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1707:Cc2d2a
|
UTSW |
5 |
43,881,030 (GRCm39) |
splice site |
probably null |
|
|
R1715:Cc2d2a
|
UTSW |
5 |
43,876,003 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1765:Cc2d2a
|
UTSW |
5 |
43,871,873 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1794:Cc2d2a
|
UTSW |
5 |
43,845,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1881:Cc2d2a
|
UTSW |
5 |
43,898,170 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1917:Cc2d2a
|
UTSW |
5 |
43,863,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2005:Cc2d2a
|
UTSW |
5 |
43,883,715 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2201:Cc2d2a
|
UTSW |
5 |
43,841,375 (GRCm39) |
splice site |
probably benign |
|
|
R2244:Cc2d2a
|
UTSW |
5 |
43,889,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2368:Cc2d2a
|
UTSW |
5 |
43,861,230 (GRCm39) |
missense |
probably benign |
|
|
R2442:Cc2d2a
|
UTSW |
5 |
43,828,647 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2511:Cc2d2a
|
UTSW |
5 |
43,892,737 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3023:Cc2d2a
|
UTSW |
5 |
43,842,593 (GRCm39) |
splice site |
probably null |
|
|
R3147:Cc2d2a
|
UTSW |
5 |
43,866,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3148:Cc2d2a
|
UTSW |
5 |
43,866,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3426:Cc2d2a
|
UTSW |
5 |
43,893,451 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3609:Cc2d2a
|
UTSW |
5 |
43,869,668 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3610:Cc2d2a
|
UTSW |
5 |
43,869,668 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3611:Cc2d2a
|
UTSW |
5 |
43,869,668 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3839:Cc2d2a
|
UTSW |
5 |
43,876,056 (GRCm39) |
missense |
probably benign |
|
|
R3870:Cc2d2a
|
UTSW |
5 |
43,876,033 (GRCm39) |
nonsense |
probably null |
|
|
R4334:Cc2d2a
|
UTSW |
5 |
43,840,476 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5179:Cc2d2a
|
UTSW |
5 |
43,845,563 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5315:Cc2d2a
|
UTSW |
5 |
43,877,775 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5352:Cc2d2a
|
UTSW |
5 |
43,863,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5386:Cc2d2a
|
UTSW |
5 |
43,887,383 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5538:Cc2d2a
|
UTSW |
5 |
43,852,518 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5568:Cc2d2a
|
UTSW |
5 |
43,866,433 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5618:Cc2d2a
|
UTSW |
5 |
43,887,249 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5653:Cc2d2a
|
UTSW |
5 |
43,879,804 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5817:Cc2d2a
|
UTSW |
5 |
43,869,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5858:Cc2d2a
|
UTSW |
5 |
43,873,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5905:Cc2d2a
|
UTSW |
5 |
43,869,768 (GRCm39) |
missense |
probably benign |
|
|
R5912:Cc2d2a
|
UTSW |
5 |
43,877,772 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6073:Cc2d2a
|
UTSW |
5 |
43,887,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6084:Cc2d2a
|
UTSW |
5 |
43,826,015 (GRCm39) |
missense |
probably benign |
|
|
R6142:Cc2d2a
|
UTSW |
5 |
43,860,540 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6176:Cc2d2a
|
UTSW |
5 |
43,866,455 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6238:Cc2d2a
|
UTSW |
5 |
43,828,577 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6381:Cc2d2a
|
UTSW |
5 |
43,873,118 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6404:Cc2d2a
|
UTSW |
5 |
43,861,416 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6455:Cc2d2a
|
UTSW |
5 |
43,896,754 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6695:Cc2d2a
|
UTSW |
5 |
43,876,019 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6805:Cc2d2a
|
UTSW |
5 |
43,838,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6919:Cc2d2a
|
UTSW |
5 |
43,860,557 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6970:Cc2d2a
|
UTSW |
5 |
43,875,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7024:Cc2d2a
|
UTSW |
5 |
43,891,271 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7054:Cc2d2a
|
UTSW |
5 |
43,857,321 (GRCm39) |
nonsense |
probably null |
|
|
R7071:Cc2d2a
|
UTSW |
5 |
43,866,455 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7098:Cc2d2a
|
UTSW |
5 |
43,840,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7366:Cc2d2a
|
UTSW |
5 |
43,887,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7908:Cc2d2a
|
UTSW |
5 |
43,864,188 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7920:Cc2d2a
|
UTSW |
5 |
43,896,651 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7950:Cc2d2a
|
UTSW |
5 |
43,852,638 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8007:Cc2d2a
|
UTSW |
5 |
43,863,442 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8117:Cc2d2a
|
UTSW |
5 |
43,869,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8123:Cc2d2a
|
UTSW |
5 |
43,867,896 (GRCm39) |
missense |
probably benign |
|
|
R8179:Cc2d2a
|
UTSW |
5 |
43,857,295 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8279:Cc2d2a
|
UTSW |
5 |
43,893,487 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8293:Cc2d2a
|
UTSW |
5 |
43,845,570 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8480:Cc2d2a
|
UTSW |
5 |
43,842,486 (GRCm39) |
splice site |
probably null |
|
|
R8482:Cc2d2a
|
UTSW |
5 |
43,852,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8731:Cc2d2a
|
UTSW |
5 |
43,892,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8780:Cc2d2a
|
UTSW |
5 |
43,896,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8784:Cc2d2a
|
UTSW |
5 |
43,860,645 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8871:Cc2d2a
|
UTSW |
5 |
43,857,285 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8972:Cc2d2a
|
UTSW |
5 |
43,867,884 (GRCm39) |
missense |
probably benign |
|
|
R9122:Cc2d2a
|
UTSW |
5 |
43,831,081 (GRCm39) |
missense |
probably null |
0.07 |
|
R9125:Cc2d2a
|
UTSW |
5 |
43,860,563 (GRCm39) |
missense |
probably benign |
|
|
R9203:Cc2d2a
|
UTSW |
5 |
43,891,179 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9310:Cc2d2a
|
UTSW |
5 |
43,852,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9343:Cc2d2a
|
UTSW |
5 |
43,875,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9353:Cc2d2a
|
UTSW |
5 |
43,860,691 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Cc2d2a
|
UTSW |
5 |
43,860,546 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGATCACCCATAAGTAGCTGC -3'
(R):5'- TGTGCAGGTAGTTTGATTCCCC -3'
Sequencing Primer
(F):5'- GTAGCTGCTAATCTGCCTAGAAC -3'
(R):5'- GAAGCACTGGTCATTTTGTCACAC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation