Incidental Mutation 'R8871:Cc2d2a'
| ID |
676270 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cc2d2a
|
| Ensembl Gene |
ENSMUSG00000039765 |
| Gene Name |
coiled-coil and C2 domain containing 2A |
| Synonyms |
b2b1035Clo, 5730509K17Rik |
| MMRRC Submission |
068685-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.906)
|
| Stock # |
R8871 (G1)
|
| Quality Score |
213.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
43819715-43898317 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 43857285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 491
(T491S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048150]
[ENSMUST00000125866]
|
| AlphaFold |
Q8CFW7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048150
AA Change: T491S
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765
AA Change: T491S
| 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: T442S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765
AA Change: T442S
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.3%
|
| Validation Efficiency |
99% (76/77) |
| 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 |
|---|
| Abca13 |
T |
G |
11: 9,248,071 (GRCm39) |
M2606R |
probably benign |
Het |
| Abcg5 |
C |
T |
17: 84,990,295 (GRCm39) |
E3K |
probably benign |
Het |
| Adam20 |
A |
C |
8: 41,248,601 (GRCm39) |
H237P |
probably damaging |
Het |
| Alg3 |
T |
C |
16: 20,424,684 (GRCm39) |
Y361C |
probably damaging |
Het |
| Ano8 |
A |
T |
8: 71,931,944 (GRCm39) |
Y752N |
probably benign |
Het |
| AW551984 |
A |
T |
9: 39,500,998 (GRCm39) |
L759* |
probably null |
Het |
| Bdp1 |
A |
C |
13: 100,186,175 (GRCm39) |
V1759G |
probably damaging |
Het |
| Bicdl2 |
C |
A |
17: 23,885,777 (GRCm39) |
Q273K |
probably damaging |
Het |
| Cdkl2 |
A |
G |
5: 92,164,989 (GRCm39) |
S545P |
possibly damaging |
Het |
| Ceacam5 |
T |
A |
7: 17,494,827 (GRCm39) |
I945K |
probably benign |
Het |
| Celf1 |
A |
G |
2: 90,840,840 (GRCm39) |
Y369C |
probably damaging |
Het |
| Cmtm1 |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
8: 105,036,334 (GRCm39) |
|
probably null |
Het |
| Col14a1 |
T |
G |
15: 55,245,958 (GRCm39) |
D487E |
unknown |
Het |
| Crybg3 |
T |
C |
16: 59,378,519 (GRCm39) |
N912D |
probably benign |
Het |
| Cstl1 |
A |
G |
2: 148,596,554 (GRCm39) |
T86A |
probably damaging |
Het |
| Dixdc1 |
C |
T |
9: 50,595,096 (GRCm39) |
V482M |
possibly damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,718,597 (GRCm39) |
Y1773H |
unknown |
Het |
| Dock4 |
T |
C |
12: 40,795,730 (GRCm39) |
I849T |
probably benign |
Het |
| Fbln2 |
A |
T |
6: 91,233,215 (GRCm39) |
|
probably null |
Het |
| Fbxo16 |
A |
G |
14: 65,531,348 (GRCm39) |
E84G |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,855,257 (GRCm39) |
V1922D |
probably benign |
Het |
| G6pc3 |
A |
G |
11: 102,082,896 (GRCm39) |
H85R |
probably damaging |
Het |
| Galc |
A |
T |
12: 98,212,543 (GRCm39) |
N197K |
probably damaging |
Het |
| Galnt12 |
T |
G |
4: 47,108,582 (GRCm39) |
|
probably null |
Het |
| Gm10220 |
T |
A |
5: 26,322,863 (GRCm39) |
Q183L |
probably benign |
Het |
| Gxylt2 |
A |
G |
6: 100,760,109 (GRCm39) |
T215A |
probably damaging |
Het |
| Hnrnpf |
T |
G |
6: 117,900,811 (GRCm39) |
S32A |
probably benign |
Het |
| Hspa1l |
T |
C |
17: 35,197,799 (GRCm39) |
Y613H |
probably benign |
Het |
| Il1r2 |
T |
A |
1: 40,144,424 (GRCm39) |
V37D |
probably benign |
Het |
| Itga11 |
C |
A |
9: 62,668,823 (GRCm39) |
Y693* |
probably null |
Het |
| Itgax |
T |
A |
7: 127,735,223 (GRCm39) |
F459L |
probably damaging |
Het |
| Jph1 |
A |
G |
1: 17,067,719 (GRCm39) |
V656A |
possibly damaging |
Het |
| Kcnn4 |
A |
T |
7: 24,083,500 (GRCm39) |
I394F |
possibly damaging |
Het |
| Kdelr3 |
T |
A |
15: 79,410,044 (GRCm39) |
Y176* |
probably null |
Het |
| Kif13a |
T |
C |
13: 46,984,279 (GRCm39) |
D162G |
probably damaging |
Het |
| Klhdc8b |
G |
A |
9: 108,326,871 (GRCm39) |
P164S |
probably damaging |
Het |
| Lmbrd1 |
A |
T |
1: 24,783,435 (GRCm39) |
Q357L |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,347,375 (GRCm39) |
M3107V |
unknown |
Het |
| Mllt3 |
ACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT |
ACTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT |
4: 87,759,552 (GRCm39) |
|
probably benign |
Het |
| Muc16 |
C |
A |
9: 18,567,344 (GRCm39) |
G1725V |
unknown |
Het |
| Myo5c |
T |
C |
9: 75,185,585 (GRCm39) |
S983P |
probably benign |
Het |
| Naip1 |
G |
A |
13: 100,580,146 (GRCm39) |
H217Y |
probably damaging |
Het |
| Nlrc3 |
T |
C |
16: 3,781,968 (GRCm39) |
|
probably benign |
Het |
| Nrl |
A |
T |
14: 55,758,184 (GRCm39) |
L181Q |
probably damaging |
Het |
| Olig1 |
T |
C |
16: 91,067,545 (GRCm39) |
*261R |
probably null |
Het |
| Or12k5 |
T |
C |
2: 36,895,060 (GRCm39) |
T189A |
probably benign |
Het |
| Or2l13b |
T |
C |
16: 19,349,536 (GRCm39) |
I45V |
|
Het |
| Or8j3c |
T |
C |
2: 86,253,697 (GRCm39) |
M108V |
probably benign |
Het |
| Oscp1 |
T |
A |
4: 125,952,535 (GRCm39) |
L21Q |
probably damaging |
Het |
| Oxct1 |
G |
A |
15: 4,064,763 (GRCm39) |
V34I |
probably benign |
Het |
| Pdzph1 |
A |
G |
17: 59,195,033 (GRCm39) |
L1074P |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,900,503 (GRCm39) |
S463C |
|
Het |
| Pnpla3 |
G |
A |
15: 84,063,509 (GRCm39) |
E296K |
probably benign |
Het |
| Prss35 |
T |
G |
9: 86,637,244 (GRCm39) |
L5V |
possibly damaging |
Het |
| Rbck1 |
T |
C |
2: 152,164,096 (GRCm39) |
E336G |
possibly damaging |
Het |
| Rgl2 |
G |
A |
17: 34,153,974 (GRCm39) |
R460Q |
probably damaging |
Het |
| Rmi1 |
T |
A |
13: 58,557,156 (GRCm39) |
N468K |
probably benign |
Het |
| Rptor |
T |
A |
11: 119,494,751 (GRCm39) |
I39N |
probably benign |
Het |
| S1pr1 |
A |
G |
3: 115,505,628 (GRCm39) |
F322S |
probably damaging |
Het |
| Scgb1b10 |
T |
A |
7: 31,800,544 (GRCm39) |
Y44* |
probably null |
Het |
| Setx |
A |
G |
2: 29,038,114 (GRCm39) |
D1533G |
probably benign |
Het |
| Sf3b1 |
A |
G |
1: 55,029,508 (GRCm39) |
Y1165H |
probably damaging |
Het |
| Sgcz |
A |
T |
8: 38,420,103 (GRCm39) |
Y50N |
probably damaging |
Het |
| Sh3gl2 |
C |
A |
4: 85,305,817 (GRCm39) |
P227Q |
|
Het |
| She |
T |
C |
3: 89,759,795 (GRCm39) |
|
probably null |
Het |
| Slc9a4 |
T |
C |
1: 40,642,015 (GRCm39) |
I328T |
probably damaging |
Het |
| Sort1 |
G |
A |
3: 108,262,887 (GRCm39) |
|
probably null |
Het |
| Srebf1 |
A |
G |
11: 60,091,595 (GRCm39) |
S977P |
probably benign |
Het |
| Srsf9 |
T |
C |
5: 115,468,712 (GRCm39) |
V116A |
probably damaging |
Het |
| Tex15 |
G |
A |
8: 34,066,992 (GRCm39) |
V2141I |
possibly damaging |
Het |
| Tmprss13 |
A |
T |
9: 45,249,704 (GRCm39) |
H347L |
probably damaging |
Het |
| Trpv4 |
A |
G |
5: 114,768,511 (GRCm39) |
F519S |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,758,649 (GRCm39) |
T2159A |
probably benign |
Het |
| Vmn1r36 |
A |
T |
6: 66,693,442 (GRCm39) |
Y144* |
probably null |
Het |
| Vmn2r10 |
A |
G |
5: 109,146,899 (GRCm39) |
I463T |
possibly damaging |
Het |
| Vps13a |
T |
A |
19: 16,641,186 (GRCm39) |
N2312I |
probably damaging |
Het |
| Wdr81 |
A |
T |
11: 75,343,919 (GRCm39) |
Y449* |
probably null |
Het |
| Zfhx3 |
A |
G |
8: 109,676,867 (GRCm39) |
D2639G |
possibly damaging |
Het |
| Zfp120 |
A |
G |
2: 149,959,995 (GRCm39) |
V131A |
probably benign |
Het |
| Zfp574 |
G |
T |
7: 24,780,562 (GRCm39) |
C528F |
probably damaging |
Het |
| Zfp947 |
A |
T |
17: 22,364,695 (GRCm39) |
N326K |
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 |
|
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 |
|
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'- CCCTGGCAGAACTGTGTTAG -3'
(R):5'- GGCTGTTCGCTCATAGTTTCTAAAC -3'
Sequencing Primer
(F):5'- CCTGGCAGAACTGTGTTAGAAGAG -3'
(R):5'- GTTTCTAAACTCTATCTATGCACTCC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation