Incidental Mutation 'R1917:Cc2d2a'
| ID |
212596 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cc2d2a
|
| Ensembl Gene |
ENSMUSG00000039765 |
| Gene Name |
coiled-coil and C2 domain containing 2A |
| Synonyms |
b2b1035Clo, 5730509K17Rik |
| MMRRC Submission |
039935-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.906)
|
| Stock # |
R1917 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
43819715-43898317 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 43863564 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 675
(S675R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048150]
[ENSMUST00000125866]
|
| AlphaFold |
Q8CFW7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048150
AA Change: S724R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765
AA Change: S724R
| 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 damaging
Transcript: ENSMUST00000125866
AA Change: S675R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765
AA Change: S675R
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127355
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.8%
- 20x: 93.6%
|
| 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 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,982,341 (GRCm39) |
|
probably benign |
Het |
| Adgre5 |
A |
G |
8: 84,455,738 (GRCm39) |
V190A |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 53,151,395 (GRCm39) |
N1153S |
probably benign |
Het |
| Aldh1a7 |
G |
A |
19: 20,704,819 (GRCm39) |
H20Y |
probably benign |
Het |
| B430306N03Rik |
A |
G |
17: 48,631,176 (GRCm39) |
E278G |
probably benign |
Het |
| Cacna1b |
C |
A |
2: 24,506,891 (GRCm39) |
R72L |
probably null |
Het |
| Ccdc88b |
T |
A |
19: 6,826,594 (GRCm39) |
E1040D |
probably damaging |
Het |
| Cmtm7 |
A |
G |
9: 114,592,432 (GRCm39) |
V55A |
probably damaging |
Het |
| Coq4 |
A |
C |
2: 29,679,938 (GRCm39) |
T77P |
probably damaging |
Het |
| Cyp2j11 |
C |
A |
4: 96,228,211 (GRCm39) |
W136L |
probably damaging |
Het |
| Dctn2 |
T |
A |
10: 127,110,918 (GRCm39) |
Y86* |
probably null |
Het |
| Ddx56 |
A |
G |
11: 6,213,937 (GRCm39) |
|
probably null |
Het |
| Dop1b |
T |
C |
16: 93,513,150 (GRCm39) |
S30P |
probably damaging |
Het |
| Ep400 |
T |
C |
5: 110,851,441 (GRCm39) |
K1347R |
unknown |
Het |
| Fat3 |
T |
A |
9: 15,908,353 (GRCm39) |
T2550S |
possibly damaging |
Het |
| Fcrla |
G |
T |
1: 170,755,095 (GRCm39) |
C5* |
probably null |
Het |
| Fem1al |
A |
G |
11: 29,774,039 (GRCm39) |
S473P |
probably benign |
Het |
| Fermt1 |
T |
A |
2: 132,764,762 (GRCm39) |
D365V |
probably damaging |
Het |
| Fhod3 |
A |
G |
18: 25,123,022 (GRCm39) |
|
probably benign |
Het |
| Fhod3 |
A |
G |
18: 25,218,658 (GRCm39) |
D807G |
probably benign |
Het |
| Fnip1 |
C |
T |
11: 54,371,510 (GRCm39) |
T177I |
probably damaging |
Het |
| Gart |
T |
C |
16: 91,425,037 (GRCm39) |
Y662C |
probably damaging |
Het |
| Gda |
A |
T |
19: 21,375,004 (GRCm39) |
|
probably benign |
Het |
| Gk |
A |
G |
X: 84,804,186 (GRCm39) |
I85T |
probably damaging |
Het |
| Gm3476 |
A |
G |
14: 6,118,358 (GRCm38) |
L255P |
possibly damaging |
Het |
| Gm9966 |
T |
C |
7: 95,607,684 (GRCm39) |
C2R |
unknown |
Het |
| Gnpda1 |
T |
C |
18: 38,466,243 (GRCm39) |
|
probably null |
Het |
| Gtf2h4 |
G |
A |
17: 35,981,090 (GRCm39) |
L246F |
possibly damaging |
Het |
| Hao1 |
A |
T |
2: 134,364,980 (GRCm39) |
S216T |
probably benign |
Het |
| Hnrnpr |
C |
A |
4: 136,059,799 (GRCm39) |
S301* |
probably null |
Het |
| Hsd3b2 |
A |
G |
3: 98,619,342 (GRCm39) |
I201T |
probably benign |
Het |
| Jade2 |
T |
C |
11: 51,709,365 (GRCm39) |
E548G |
possibly damaging |
Het |
| Katnbl1 |
T |
C |
2: 112,239,524 (GRCm39) |
I241T |
probably benign |
Het |
| Keap1 |
G |
T |
9: 21,145,102 (GRCm39) |
Q299K |
probably benign |
Het |
| Kif1a |
T |
C |
1: 92,946,753 (GRCm39) |
I1650V |
possibly damaging |
Het |
| Lrba |
G |
A |
3: 86,571,808 (GRCm39) |
G275R |
probably damaging |
Het |
| Map3k9 |
C |
A |
12: 81,827,564 (GRCm39) |
E29* |
probably null |
Het |
| Mat1a |
G |
A |
14: 40,843,394 (GRCm39) |
V307I |
probably damaging |
Het |
| Mcm2 |
A |
T |
6: 88,868,785 (GRCm39) |
M324K |
possibly damaging |
Het |
| Metap1d |
T |
C |
2: 71,341,871 (GRCm39) |
V155A |
probably damaging |
Het |
| Mtbp |
A |
G |
15: 55,428,073 (GRCm39) |
|
probably benign |
Het |
| Myh14 |
T |
C |
7: 44,307,349 (GRCm39) |
T231A |
probably benign |
Het |
| Mylk4 |
A |
T |
13: 32,908,836 (GRCm39) |
D90E |
probably benign |
Het |
| Myo15b |
T |
A |
11: 115,773,080 (GRCm39) |
I1837K |
possibly damaging |
Het |
| Myo3a |
T |
A |
2: 22,296,733 (GRCm39) |
H242Q |
probably damaging |
Het |
| Nxn |
A |
G |
11: 76,152,498 (GRCm39) |
|
probably benign |
Het |
| Or6c2 |
T |
A |
10: 129,362,918 (GRCm39) |
V274D |
probably damaging |
Het |
| Pak3 |
C |
A |
X: 142,574,298 (GRCm39) |
A553E |
possibly damaging |
Het |
| Pdia2 |
T |
A |
17: 26,417,079 (GRCm39) |
T122S |
possibly damaging |
Het |
| Pira12 |
C |
T |
7: 3,900,637 (GRCm39) |
V38M |
probably damaging |
Het |
| Plod2 |
A |
G |
9: 92,463,310 (GRCm39) |
T132A |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 23,035,039 (GRCm39) |
|
probably benign |
Het |
| Rad54b |
A |
C |
4: 11,601,693 (GRCm39) |
N416T |
probably damaging |
Het |
| Recql4 |
A |
T |
15: 76,588,037 (GRCm39) |
Y1142* |
probably null |
Het |
| Rnf216 |
A |
G |
5: 142,978,561 (GRCm39) |
V859A |
probably benign |
Het |
| Scnm1 |
G |
T |
3: 95,037,584 (GRCm39) |
P161T |
possibly damaging |
Het |
| Serpinb6b |
A |
G |
13: 33,162,223 (GRCm39) |
I222V |
probably benign |
Het |
| Serpinf1 |
A |
G |
11: 75,301,833 (GRCm39) |
I274T |
possibly damaging |
Het |
| Slc28a1 |
T |
C |
7: 80,819,334 (GRCm39) |
F641L |
probably benign |
Het |
| Slc8a2 |
A |
G |
7: 15,886,845 (GRCm39) |
I657V |
probably benign |
Het |
| Smchd1 |
A |
G |
17: 71,714,232 (GRCm39) |
I877T |
possibly damaging |
Het |
| Spata31 |
T |
C |
13: 65,068,679 (GRCm39) |
Y276H |
possibly damaging |
Het |
| Spire2 |
A |
G |
8: 124,089,810 (GRCm39) |
D447G |
probably benign |
Het |
| Stk3 |
G |
A |
15: 35,073,363 (GRCm39) |
T119I |
probably damaging |
Het |
| Stxbp5 |
C |
A |
10: 9,688,042 (GRCm39) |
V420F |
possibly damaging |
Het |
| Sult2a5 |
T |
C |
7: 13,404,609 (GRCm39) |
F282S |
probably damaging |
Het |
| Syk |
A |
T |
13: 52,776,744 (GRCm39) |
D248V |
probably damaging |
Het |
| Thoc6 |
C |
T |
17: 23,888,364 (GRCm39) |
|
probably benign |
Het |
| Timd5 |
A |
G |
11: 46,419,358 (GRCm39) |
D58G |
possibly damaging |
Het |
| Tll2 |
T |
A |
19: 41,116,936 (GRCm39) |
D293V |
possibly damaging |
Het |
| Umodl1 |
G |
A |
17: 31,203,017 (GRCm39) |
V457M |
probably damaging |
Het |
| Usp19 |
T |
A |
9: 108,376,524 (GRCm39) |
C689* |
probably null |
Het |
| Usp24 |
T |
G |
4: 106,267,483 (GRCm39) |
V1955G |
probably damaging |
Het |
| Vmn1r226 |
T |
C |
17: 20,907,842 (GRCm39) |
S25P |
probably damaging |
Het |
| Vmn2r69 |
C |
T |
7: 85,060,891 (GRCm39) |
C231Y |
probably damaging |
Het |
| Wdr73 |
C |
T |
7: 80,543,081 (GRCm39) |
D176N |
probably benign |
Het |
| Wnt7b |
T |
A |
15: 85,443,281 (GRCm39) |
I41F |
probably damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,682,880 (GRCm39) |
S3440P |
unknown |
Het |
| Zfp52 |
T |
G |
17: 21,780,426 (GRCm39) |
N91K |
probably benign |
Het |
| Zfp930 |
C |
A |
8: 69,681,357 (GRCm39) |
Q350K |
probably benign |
Het |
| Zfp949 |
T |
C |
9: 88,452,115 (GRCm39) |
S562P |
probably damaging |
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 |
|
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'- TCTCACTTTGCAGGGTGGAG -3'
(R):5'- CTAATCAACTAGGGAACTCTCTGATC -3'
Sequencing Primer
(F):5'- ACTTTGCAGGGTGGAGGTCTC -3'
(R):5'- CCTAGAGTGGCAACCTATCTG -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation