Incidental Mutation 'R0558:Cc2d2a'
| ID |
45710 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cc2d2a
|
| Ensembl Gene |
ENSMUSG00000039765 |
| Gene Name |
coiled-coil and C2 domain containing 2A |
| Synonyms |
b2b1035Clo, 5730509K17Rik |
| MMRRC Submission |
038750-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.914)
|
| Stock # |
R0558 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
43819715-43898317 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 43881729 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048150]
[ENSMUST00000125866]
|
| AlphaFold |
Q8CFW7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048150
|
| SMART Domains |
Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
100% (80/80) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
G |
A |
19: 43,789,163 (GRCm39) |
G273R |
probably benign |
Het |
| Adamts10 |
T |
C |
17: 33,769,583 (GRCm39) |
V935A |
probably benign |
Het |
| Anapc15-ps |
T |
C |
10: 95,508,983 (GRCm39) |
D90G |
probably damaging |
Het |
| Atic |
T |
A |
1: 71,602,947 (GRCm39) |
V107E |
probably benign |
Het |
| Atp4b |
T |
C |
8: 13,443,523 (GRCm39) |
T52A |
possibly damaging |
Het |
| Cacna1h |
C |
T |
17: 25,600,524 (GRCm39) |
A1606T |
probably damaging |
Het |
| Cacng6 |
T |
A |
7: 3,483,324 (GRCm39) |
Y217* |
probably null |
Het |
| Cd226 |
T |
A |
18: 89,225,338 (GRCm39) |
H78Q |
probably benign |
Het |
| Cers3 |
A |
G |
7: 66,433,166 (GRCm39) |
D161G |
probably damaging |
Het |
| Ces1f |
T |
C |
8: 94,002,017 (GRCm39) |
H37R |
probably benign |
Het |
| Cfhr4 |
A |
G |
1: 139,667,230 (GRCm39) |
V376A |
probably damaging |
Het |
| Chek1 |
T |
A |
9: 36,623,411 (GRCm39) |
N421I |
possibly damaging |
Het |
| Cibar1 |
T |
C |
4: 12,164,095 (GRCm39) |
D248G |
probably damaging |
Het |
| Cma2 |
T |
C |
14: 56,210,249 (GRCm39) |
Y45H |
probably damaging |
Het |
| Cmas |
C |
A |
6: 142,720,970 (GRCm39) |
Y401* |
probably null |
Het |
| Cyp2j8 |
A |
T |
4: 96,332,871 (GRCm39) |
S492T |
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,430,465 (GRCm39) |
S358P |
probably benign |
Het |
| Dnajc13 |
T |
C |
9: 104,079,151 (GRCm39) |
|
probably null |
Het |
| Ep400 |
A |
C |
5: 110,832,933 (GRCm39) |
|
probably benign |
Het |
| Fam209 |
T |
A |
2: 172,314,758 (GRCm39) |
N82K |
probably benign |
Het |
| G3bp2 |
A |
T |
5: 92,221,056 (GRCm39) |
Y20N |
probably damaging |
Het |
| Gli2 |
T |
C |
1: 118,765,379 (GRCm39) |
D924G |
probably benign |
Het |
| Gm10787 |
T |
C |
10: 76,857,850 (GRCm39) |
|
noncoding transcript |
Het |
| Gm11568 |
A |
G |
11: 99,748,872 (GRCm39) |
R26G |
unknown |
Het |
| Hivep3 |
T |
G |
4: 119,953,763 (GRCm39) |
L693R |
probably damaging |
Het |
| Hook1 |
A |
G |
4: 95,881,449 (GRCm39) |
|
probably benign |
Het |
| Ibtk |
A |
C |
9: 85,619,591 (GRCm39) |
D116E |
probably damaging |
Het |
| Insrr |
C |
T |
3: 87,718,288 (GRCm39) |
T927I |
possibly damaging |
Het |
| Irx1 |
T |
G |
13: 72,107,747 (GRCm39) |
S312R |
probably benign |
Het |
| Itga11 |
T |
C |
9: 62,659,570 (GRCm39) |
Y441H |
probably benign |
Het |
| Itsn1 |
A |
G |
16: 91,696,511 (GRCm39) |
D38G |
possibly damaging |
Het |
| Kat6b |
G |
T |
14: 21,719,489 (GRCm39) |
E1280D |
probably benign |
Het |
| Kcnk10 |
T |
A |
12: 98,402,560 (GRCm39) |
Y293F |
possibly damaging |
Het |
| Krt74 |
T |
A |
15: 101,669,398 (GRCm39) |
|
noncoding transcript |
Het |
| Lars1 |
T |
G |
18: 42,347,902 (GRCm39) |
I974L |
probably benign |
Het |
| Limch1 |
A |
G |
5: 67,126,498 (GRCm39) |
D42G |
probably damaging |
Het |
| Mau2 |
G |
C |
8: 70,495,082 (GRCm39) |
T85R |
probably damaging |
Het |
| Mkrn3 |
A |
G |
7: 62,068,612 (GRCm39) |
I393T |
probably benign |
Het |
| Mpl |
A |
C |
4: 118,301,217 (GRCm39) |
S541R |
probably damaging |
Het |
| Nfrkb |
T |
C |
9: 31,321,564 (GRCm39) |
S754P |
possibly damaging |
Het |
| Or4c125 |
A |
G |
2: 89,170,580 (GRCm39) |
L22P |
probably benign |
Het |
| Or5bw2 |
T |
C |
7: 6,573,652 (GRCm39) |
Y221H |
possibly damaging |
Het |
| Or5d41 |
A |
G |
2: 88,054,818 (GRCm39) |
V186A |
possibly damaging |
Het |
| Or8g18 |
T |
A |
9: 39,149,496 (GRCm39) |
T75S |
probably damaging |
Het |
| P2rx7 |
A |
T |
5: 122,811,861 (GRCm39) |
I391F |
possibly damaging |
Het |
| Pbrm1 |
T |
A |
14: 30,807,016 (GRCm39) |
|
probably null |
Het |
| Pcdh8 |
T |
C |
14: 80,007,516 (GRCm39) |
D349G |
probably damaging |
Het |
| Pias1 |
A |
G |
9: 62,789,291 (GRCm39) |
S639P |
possibly damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,347,820 (GRCm39) |
I232F |
probably damaging |
Het |
| Plxnc1 |
C |
T |
10: 94,673,797 (GRCm39) |
R995Q |
probably damaging |
Het |
| Pnliprp2 |
T |
A |
19: 58,762,519 (GRCm39) |
S375T |
probably benign |
Het |
| Prkar1b |
C |
T |
5: 139,005,847 (GRCm39) |
V313M |
probably benign |
Het |
| Prr35 |
T |
C |
17: 26,166,523 (GRCm39) |
N338S |
probably benign |
Het |
| Ptpn13 |
T |
C |
5: 103,677,583 (GRCm39) |
S734P |
probably damaging |
Het |
| Rdh1 |
T |
C |
10: 127,595,810 (GRCm39) |
W2R |
possibly damaging |
Het |
| Rsph10b |
A |
T |
5: 143,886,156 (GRCm39) |
I285L |
probably benign |
Het |
| Rubcnl |
T |
C |
14: 75,284,987 (GRCm39) |
F502S |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,653,329 (GRCm39) |
I3693F |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,814,747 (GRCm39) |
Y675C |
probably damaging |
Het |
| Scaper |
T |
C |
9: 55,593,207 (GRCm39) |
T477A |
probably benign |
Het |
| Scn2a |
G |
T |
2: 65,542,269 (GRCm39) |
V791L |
probably benign |
Het |
| Sdk1 |
A |
T |
5: 142,117,820 (GRCm39) |
T1573S |
probably damaging |
Het |
| Sema3c |
A |
T |
5: 17,919,413 (GRCm39) |
H483L |
probably benign |
Het |
| Sema6c |
T |
C |
3: 95,076,002 (GRCm39) |
S219P |
probably damaging |
Het |
| Slc10a5 |
T |
G |
3: 10,400,177 (GRCm39) |
E161A |
probably damaging |
Het |
| Slc22a23 |
C |
T |
13: 34,528,366 (GRCm39) |
G139S |
possibly damaging |
Het |
| Slc34a3 |
C |
T |
2: 25,123,077 (GRCm39) |
|
probably benign |
Het |
| Slc38a9 |
A |
T |
13: 112,865,730 (GRCm39) |
|
probably null |
Het |
| Taok1 |
A |
C |
11: 77,450,670 (GRCm39) |
S367R |
possibly damaging |
Het |
| Tlr6 |
G |
A |
5: 65,112,203 (GRCm39) |
Q235* |
probably null |
Het |
| Top2a |
A |
G |
11: 98,887,665 (GRCm39) |
V1281A |
probably benign |
Het |
| Tpgs1 |
T |
C |
10: 79,511,616 (GRCm39) |
Y253H |
probably damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,703,462 (GRCm39) |
T288A |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,154,213 (GRCm39) |
E2140G |
probably benign |
Het |
| Uso1 |
A |
G |
5: 92,321,878 (GRCm39) |
Q257R |
probably benign |
Het |
| Zfp106 |
A |
G |
2: 120,362,677 (GRCm39) |
V48A |
probably damaging |
Het |
| Zfp174 |
T |
A |
16: 3,666,118 (GRCm39) |
S128T |
possibly damaging |
Het |
| Zscan26 |
T |
A |
13: 21,629,225 (GRCm39) |
D426V |
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 |
|
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 |
|
R4913:Cc2d2a
|
UTSW |
5 |
43,896,665 (GRCm39) |
missense |
probably benign |
0.12 |
|
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'- TGTCCATATGCACAGCACAGTCAAG -3'
(R):5'- AGGGTGTCGTTGTCAAGCATTCC -3'
Sequencing Primer
(F):5'- TCAAGAGCATCGATCCATACCTG -3'
(R):5'- GAGACTCAGGTCGTCACATCTTAG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation