Incidental Mutation 'R8972:Cc2d2a'
| ID |
683153 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cc2d2a
|
| Ensembl Gene |
ENSMUSG00000039765 |
| Gene Name |
coiled-coil and C2 domain containing 2A |
| Synonyms |
b2b1035Clo, 5730509K17Rik |
| MMRRC Submission |
068806-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.906)
|
| Stock # |
R8972 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
43819715-43898317 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43867884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 843
(T843A)
|
| 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: T843A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765
AA Change: T843A
| 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
AA Change: T794A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765
AA Change: T794A
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
99% (70/71) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
T |
11: 9,278,138 (GRCm39) |
S3106F |
probably damaging |
Het |
| Acss1 |
G |
T |
2: 150,484,809 (GRCm39) |
R145S |
probably damaging |
Het |
| Acss3 |
T |
C |
10: 106,920,783 (GRCm39) |
Y109C |
probably damaging |
Het |
| Adgre4 |
G |
T |
17: 56,109,189 (GRCm39) |
G399C |
probably damaging |
Het |
| Alpk1 |
A |
G |
3: 127,473,232 (GRCm39) |
S924P |
probably damaging |
Het |
| Anapc4 |
T |
A |
5: 53,007,884 (GRCm39) |
D382E |
possibly damaging |
Het |
| Arfgef2 |
C |
T |
2: 166,709,253 (GRCm39) |
A1110V |
possibly damaging |
Het |
| Arhgap20 |
T |
C |
9: 51,760,311 (GRCm39) |
F721L |
probably benign |
Het |
| Arhgef39 |
T |
C |
4: 43,497,185 (GRCm39) |
S269G |
probably benign |
Het |
| Asap2 |
C |
T |
12: 21,279,249 (GRCm39) |
T377M |
probably damaging |
Het |
| Baiap3 |
G |
T |
17: 25,466,010 (GRCm39) |
A558E |
probably benign |
Het |
| Birc6 |
A |
C |
17: 75,009,313 (GRCm39) |
T4862P |
probably benign |
Het |
| Ccdc187 |
A |
T |
2: 26,171,079 (GRCm39) |
D466E |
probably benign |
Het |
| Ccdc88a |
T |
G |
11: 29,435,888 (GRCm39) |
N1270K |
probably benign |
Het |
| Cep250 |
C |
T |
2: 155,812,042 (GRCm39) |
A446V |
unknown |
Het |
| Cntn1 |
T |
G |
15: 92,150,278 (GRCm39) |
Y371D |
probably benign |
Het |
| Cpsf1 |
T |
C |
15: 76,481,528 (GRCm39) |
D1141G |
probably damaging |
Het |
| Crebbp |
C |
T |
16: 3,925,935 (GRCm39) |
V1193I |
probably benign |
Het |
| Csf2ra |
A |
T |
19: 61,213,597 (GRCm39) |
S371T |
probably null |
Het |
| Csf2rb2 |
T |
C |
15: 78,172,115 (GRCm39) |
N432D |
probably benign |
Het |
| Cul9 |
A |
T |
17: 46,854,177 (GRCm39) |
L175Q |
probably damaging |
Het |
| Dlc1 |
T |
A |
8: 37,405,394 (GRCm39) |
R132* |
probably null |
Het |
| Dock5 |
C |
A |
14: 68,013,749 (GRCm39) |
L1324F |
probably damaging |
Het |
| Dop1a |
T |
C |
9: 86,403,300 (GRCm39) |
V36A |
possibly damaging |
Het |
| Fap |
A |
G |
2: 62,378,927 (GRCm39) |
V158A |
probably benign |
Het |
| G2e3 |
T |
A |
12: 51,410,277 (GRCm39) |
S319T |
possibly damaging |
Het |
| Gatd3a |
T |
C |
10: 78,003,323 (GRCm39) |
I110V |
possibly damaging |
Het |
| Gphn |
T |
C |
12: 78,656,013 (GRCm39) |
|
probably null |
Het |
| Gucy2g |
A |
G |
19: 55,226,406 (GRCm39) |
I170T |
probably benign |
Het |
| Hmgxb4 |
T |
A |
8: 75,748,466 (GRCm39) |
W438R |
probably damaging |
Het |
| Igkv14-126 |
G |
T |
6: 67,873,329 (GRCm39) |
G19V |
probably damaging |
Het |
| Kansl1l |
C |
T |
1: 66,812,101 (GRCm39) |
C506Y |
probably damaging |
Het |
| Kif2a |
T |
C |
13: 107,115,543 (GRCm39) |
T321A |
probably damaging |
Het |
| Krtap6-5 |
C |
T |
16: 88,844,607 (GRCm39) |
R42H |
unknown |
Het |
| Map4 |
T |
A |
9: 109,864,185 (GRCm39) |
M470K |
probably benign |
Het |
| Mill1 |
T |
C |
7: 17,996,982 (GRCm39) |
V191A |
probably benign |
Het |
| Mki67 |
C |
A |
7: 135,297,364 (GRCm39) |
A2557S |
possibly damaging |
Het |
| Mkln1 |
A |
T |
6: 31,473,681 (GRCm39) |
H669L |
probably damaging |
Het |
| Mrgprb3 |
A |
T |
7: 48,293,422 (GRCm39) |
V43E |
possibly damaging |
Het |
| Mucl2 |
T |
A |
15: 103,927,860 (GRCm39) |
|
probably null |
Het |
| Mybbp1a |
T |
A |
11: 72,337,076 (GRCm39) |
I604N |
probably benign |
Het |
| Myo18b |
T |
C |
5: 112,841,164 (GRCm39) |
T2210A |
probably benign |
Het |
| Nlrp4f |
T |
C |
13: 65,330,749 (GRCm39) |
I881M |
probably benign |
Het |
| Obscn |
C |
A |
11: 58,943,442 (GRCm39) |
A4236S |
probably benign |
Het |
| Or13a23-ps1 |
A |
T |
7: 140,119,038 (GRCm39) |
M203L |
unknown |
Het |
| Or4a67 |
A |
C |
2: 88,598,630 (GRCm39) |
F10V |
possibly damaging |
Het |
| Or8d1 |
A |
G |
9: 38,767,254 (GRCm39) |
K299E |
probably damaging |
Het |
| Or8d2b |
G |
A |
9: 38,789,150 (GRCm39) |
R226H |
probably benign |
Het |
| Phc3 |
T |
A |
3: 31,015,926 (GRCm39) |
Q83L |
possibly damaging |
Het |
| Pira2 |
T |
C |
7: 3,845,070 (GRCm39) |
Y396C |
probably damaging |
Het |
| Prss3 |
T |
A |
6: 41,353,872 (GRCm39) |
I24F |
probably damaging |
Het |
| Psg21 |
T |
C |
7: 18,381,293 (GRCm39) |
N417D |
probably benign |
Het |
| Ros1 |
G |
T |
10: 51,999,333 (GRCm39) |
R1206S |
probably benign |
Het |
| Smg9 |
A |
T |
7: 24,120,055 (GRCm39) |
Q386L |
probably benign |
Het |
| Sncb |
T |
A |
13: 54,907,772 (GRCm39) |
|
probably null |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Sorl1 |
T |
A |
9: 41,957,848 (GRCm39) |
I599F |
probably damaging |
Het |
| Sox6 |
C |
A |
7: 115,076,218 (GRCm39) |
E807* |
probably null |
Het |
| Ssu2 |
G |
A |
6: 112,360,898 (GRCm39) |
A53V |
probably benign |
Het |
| Tas2r123 |
T |
C |
6: 132,824,333 (GRCm39) |
C77R |
probably benign |
Het |
| Tcta |
T |
C |
9: 108,181,333 (GRCm39) |
R117G |
unknown |
Het |
| Tiam1 |
G |
A |
16: 89,609,894 (GRCm39) |
A1038V |
probably damaging |
Het |
| Tram2 |
A |
T |
1: 21,074,273 (GRCm39) |
|
probably benign |
Het |
| Tsku |
C |
A |
7: 98,001,704 (GRCm39) |
R209L |
probably damaging |
Het |
| Twnk |
T |
C |
19: 45,000,149 (GRCm39) |
F622L |
probably damaging |
Het |
| Ube2t |
C |
T |
1: 134,899,670 (GRCm39) |
T106I |
probably damaging |
Het |
| Usf1 |
C |
T |
1: 171,245,352 (GRCm39) |
R255W |
probably damaging |
Het |
| Usp28 |
T |
A |
9: 48,949,124 (GRCm39) |
L906Q |
probably null |
Het |
| Vmn2r31 |
T |
A |
7: 7,399,654 (GRCm39) |
Y101F |
probably benign |
Het |
| Vmn2r42 |
A |
G |
7: 8,187,331 (GRCm39) |
S814P |
probably damaging |
Het |
| Wnt2b |
T |
C |
3: 104,858,475 (GRCm39) |
R265G |
possibly damaging |
Het |
| Zfp62 |
T |
G |
11: 49,106,892 (GRCm39) |
S328A |
possibly damaging |
Het |
| Zfp974 |
T |
C |
7: 27,610,589 (GRCm39) |
I379V |
probably benign |
Het |
| Zmynd15 |
T |
C |
11: 70,355,065 (GRCm39) |
V484A |
possibly damaging |
Het |
| Zzef1 |
T |
C |
11: 72,791,499 (GRCm39) |
L2201P |
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 |
|
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 |
|
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'- GGGTCACATTTGCATGCCTTTC -3'
(R):5'- CAAAGGGCAGGGCATTTTC -3'
Sequencing Primer
(F):5'- GTCACATTTGCATGCCTTTCATTCC -3'
(R):5'- CAAAGGGCAGGGCATTTTCTCATC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation