Incidental Mutation 'R1707:Cc2d2a'
| ID |
190139 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cc2d2a
|
| Ensembl Gene |
ENSMUSG00000039765 |
| Gene Name |
coiled-coil and C2 domain containing 2A |
| Synonyms |
b2b1035Clo, 5730509K17Rik |
| MMRRC Submission |
039740-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.874)
|
| Stock # |
R1707 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
43662346-43740972 bp(+) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 43723688 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048150]
[ENSMUST00000048150]
[ENSMUST00000125866]
[ENSMUST00000125866]
|
| AlphaFold |
Q8CFW7 |
| Predicted Effect |
probably null
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 null
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 null
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 |
|
| Predicted Effect |
probably null
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: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
| Validation Efficiency |
96% (82/85) |
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
A |
T |
1: 160,070,802 (GRCm38) |
|
probably benign |
Het |
| 4931429P17Rik |
A |
G |
13: 47,961,005 (GRCm38) |
|
noncoding transcript |
Het |
| Acox3 |
T |
A |
5: 35,601,564 (GRCm38) |
I373N |
possibly damaging |
Het |
| Adgrb1 |
G |
T |
15: 74,529,343 (GRCm38) |
A63S |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,124,226 (GRCm38) |
E148K |
probably damaging |
Het |
| Aplp2 |
A |
T |
9: 31,150,919 (GRCm38) |
H692Q |
probably damaging |
Het |
| Arhgap24 |
T |
C |
5: 102,892,087 (GRCm38) |
S297P |
probably benign |
Het |
| Arhgap9 |
C |
T |
10: 127,328,889 (GRCm38) |
P561S |
probably benign |
Het |
| Arhgef10l |
T |
G |
4: 140,564,289 (GRCm38) |
D62A |
probably damaging |
Het |
| Asb14 |
T |
G |
14: 26,901,122 (GRCm38) |
F150L |
probably benign |
Het |
| Atp8b3 |
A |
T |
10: 80,521,801 (GRCm38) |
|
probably null |
Het |
| Atrnl1 |
A |
G |
19: 57,686,737 (GRCm38) |
D686G |
probably benign |
Het |
| Bmpr1a |
A |
T |
14: 34,425,141 (GRCm38) |
|
probably benign |
Het |
| C330027C09Rik |
A |
C |
16: 49,018,404 (GRCm38) |
Q861H |
probably damaging |
Het |
| Ccin |
T |
A |
4: 43,983,947 (GRCm38) |
I118N |
probably benign |
Het |
| Cd8b1 |
G |
A |
6: 71,326,184 (GRCm38) |
G81D |
probably damaging |
Het |
| Cep126 |
G |
A |
9: 8,100,382 (GRCm38) |
S717L |
probably benign |
Het |
| Colgalt2 |
C |
T |
1: 152,400,363 (GRCm38) |
R76W |
probably damaging |
Het |
| Copg1 |
A |
T |
6: 87,905,210 (GRCm38) |
T596S |
probably benign |
Het |
| Cpb1 |
G |
A |
3: 20,275,491 (GRCm38) |
R24W |
probably damaging |
Het |
| Csad |
T |
A |
15: 102,179,972 (GRCm38) |
D134V |
probably damaging |
Het |
| Dchs2 |
A |
G |
3: 83,127,605 (GRCm38) |
|
probably benign |
Het |
| Ddb2 |
A |
G |
2: 91,234,209 (GRCm38) |
W119R |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,275,226 (GRCm38) |
S317T |
probably damaging |
Het |
| Dlc1 |
A |
G |
8: 36,937,609 (GRCm38) |
V342A |
probably benign |
Het |
| Dpp4 |
G |
A |
2: 62,359,335 (GRCm38) |
|
probably benign |
Het |
| Dst |
G |
T |
1: 34,167,646 (GRCm38) |
W1005L |
probably damaging |
Het |
| Ehmt1 |
T |
C |
2: 24,805,138 (GRCm38) |
M989V |
probably benign |
Het |
| Gm17660 |
T |
A |
5: 104,074,233 (GRCm38) |
|
probably benign |
Het |
| Gm5422 |
G |
A |
10: 31,248,462 (GRCm38) |
|
noncoding transcript |
Het |
| Gm9944 |
A |
G |
4: 144,453,263 (GRCm38) |
|
probably benign |
Het |
| Gtf2ird2 |
T |
C |
5: 134,216,987 (GRCm38) |
Y696H |
probably damaging |
Het |
| H2-M11 |
T |
G |
17: 36,548,766 (GRCm38) |
V217G |
probably damaging |
Het |
| Hrasls |
A |
G |
16: 29,228,226 (GRCm38) |
K166E |
probably damaging |
Het |
| Hunk |
C |
T |
16: 90,386,407 (GRCm38) |
|
probably benign |
Het |
| Impg1 |
T |
C |
9: 80,378,517 (GRCm38) |
|
probably null |
Het |
| Ints11 |
T |
G |
4: 155,875,198 (GRCm38) |
D87E |
probably benign |
Het |
| Intu |
T |
A |
3: 40,540,924 (GRCm38) |
S21T |
probably benign |
Het |
| Intu |
C |
A |
3: 40,683,501 (GRCm38) |
D472E |
possibly damaging |
Het |
| Kbtbd3 |
T |
A |
9: 4,316,985 (GRCm38) |
N45K |
probably benign |
Het |
| Kif1c |
C |
T |
11: 70,728,397 (GRCm38) |
L953F |
probably damaging |
Het |
| Klrg2 |
C |
G |
6: 38,636,794 (GRCm38) |
E91D |
possibly damaging |
Het |
| Lamc3 |
T |
C |
2: 31,912,129 (GRCm38) |
|
probably null |
Het |
| Magi2 |
T |
G |
5: 20,215,493 (GRCm38) |
M309R |
probably damaging |
Het |
| Magohb |
G |
A |
6: 131,284,637 (GRCm38) |
P147S |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,693,504 (GRCm38) |
D1043G |
probably damaging |
Het |
| Mtmr3 |
T |
C |
11: 4,504,095 (GRCm38) |
D203G |
probably damaging |
Het |
| Mvp |
C |
T |
7: 127,001,572 (GRCm38) |
V86I |
probably benign |
Het |
| Naip5 |
A |
T |
13: 100,242,855 (GRCm38) |
F226I |
probably damaging |
Het |
| Nasp |
T |
A |
4: 116,618,936 (GRCm38) |
Q51L |
probably damaging |
Het |
| Nf1 |
T |
A |
11: 79,535,604 (GRCm38) |
F1594I |
probably damaging |
Het |
| Nod2 |
A |
C |
8: 88,670,476 (GRCm38) |
E816A |
possibly damaging |
Het |
| Nom1 |
G |
A |
5: 29,435,318 (GRCm38) |
S214N |
probably damaging |
Het |
| Olfr168 |
T |
C |
16: 19,530,177 (GRCm38) |
T248A |
probably benign |
Het |
| Olfr25 |
T |
A |
9: 38,329,901 (GRCm38) |
F105I |
probably damaging |
Het |
| Parp14 |
A |
C |
16: 35,857,849 (GRCm38) |
L583R |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,713,224 (GRCm38) |
S3904P |
unknown |
Het |
| Pkhd1 |
T |
A |
1: 20,550,840 (GRCm38) |
|
probably benign |
Het |
| Polr1e |
A |
C |
4: 45,027,469 (GRCm38) |
D233A |
probably damaging |
Het |
| Prr29 |
T |
C |
11: 106,376,683 (GRCm38) |
V124A |
probably damaging |
Het |
| Rasgrp1 |
A |
T |
2: 117,298,547 (GRCm38) |
V197E |
probably damaging |
Het |
| Rgma |
A |
T |
7: 73,417,959 (GRCm38) |
T415S |
unknown |
Het |
| Sacs |
G |
T |
14: 61,209,762 (GRCm38) |
V3086L |
probably benign |
Het |
| Sash1 |
A |
G |
10: 8,730,377 (GRCm38) |
S750P |
probably benign |
Het |
| Sdccag3 |
T |
A |
2: 26,387,606 (GRCm38) |
N69Y |
probably damaging |
Het |
| Sema6a |
A |
T |
18: 47,283,445 (GRCm38) |
S372T |
probably benign |
Het |
| Sis |
A |
G |
3: 72,909,087 (GRCm38) |
|
probably benign |
Het |
| Skint8 |
T |
A |
4: 111,939,572 (GRCm38) |
V291D |
probably damaging |
Het |
| Slc12a8 |
A |
G |
16: 33,551,007 (GRCm38) |
N171S |
probably damaging |
Het |
| Slc25a40 |
G |
A |
5: 8,440,793 (GRCm38) |
|
probably null |
Het |
| Spag6l |
A |
T |
16: 16,780,628 (GRCm38) |
I333N |
probably benign |
Het |
| Sspo |
T |
A |
6: 48,477,877 (GRCm38) |
F2999L |
probably damaging |
Het |
| Stambpl1 |
A |
C |
19: 34,238,821 (GRCm38) |
T363P |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,888,685 (GRCm38) |
N1785Y |
probably damaging |
Het |
| Tln2 |
C |
T |
9: 67,375,807 (GRCm38) |
S293N |
probably benign |
Het |
| Tmed3 |
G |
A |
9: 89,702,780 (GRCm38) |
L141F |
probably damaging |
Het |
| Tmem30c |
G |
T |
16: 57,266,480 (GRCm38) |
T320K |
possibly damaging |
Het |
| Tnn |
T |
C |
1: 160,145,144 (GRCm38) |
Y296C |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,790,086 (GRCm38) |
A15802T |
probably damaging |
Het |
| Usp53 |
T |
C |
3: 122,947,400 (GRCm38) |
M734V |
probably benign |
Het |
| Vmn1r24 |
A |
G |
6: 57,956,512 (GRCm38) |
I7T |
probably benign |
Het |
| Vmn1r74 |
T |
A |
7: 11,847,577 (GRCm38) |
V268E |
probably damaging |
Het |
| Xirp1 |
A |
T |
9: 120,018,775 (GRCm38) |
H347Q |
possibly damaging |
Het |
|
| Other mutations in Cc2d2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00392:Cc2d2a
|
APN |
5 |
43,724,380 (GRCm38) |
splice site |
probably benign |
|
|
IGL00937:Cc2d2a
|
APN |
5 |
43,688,122 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL01322:Cc2d2a
|
APN |
5 |
43,689,003 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01349:Cc2d2a
|
APN |
5 |
43,723,784 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01448:Cc2d2a
|
APN |
5 |
43,684,185 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
IGL01871:Cc2d2a
|
APN |
5 |
43,688,969 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01947:Cc2d2a
|
APN |
5 |
43,688,237 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01976:Cc2d2a
|
APN |
5 |
43,683,115 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02113:Cc2d2a
|
APN |
5 |
43,685,248 (GRCm38) |
splice site |
probably null |
|
|
IGL02364:Cc2d2a
|
APN |
5 |
43,735,450 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02448:Cc2d2a
|
APN |
5 |
43,683,205 (GRCm38) |
splice site |
probably benign |
|
|
IGL02458:Cc2d2a
|
APN |
5 |
43,718,554 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02542:Cc2d2a
|
APN |
5 |
43,688,910 (GRCm38) |
splice site |
probably benign |
|
|
IGL02834:Cc2d2a
|
APN |
5 |
43,714,521 (GRCm38) |
nonsense |
probably null |
|
|
IGL02940:Cc2d2a
|
APN |
5 |
43,728,294 (GRCm38) |
splice site |
probably null |
|
|
IGL03003:Cc2d2a
|
APN |
5 |
43,671,266 (GRCm38) |
missense |
probably benign |
0.22 |
|
IGL03183:Cc2d2a
|
APN |
5 |
43,732,379 (GRCm38) |
missense |
probably damaging |
1.00 |
|
C9142:Cc2d2a
|
UTSW |
5 |
43,735,457 (GRCm38) |
splice site |
probably benign |
|
|
P0028:Cc2d2a
|
UTSW |
5 |
43,684,199 (GRCm38) |
missense |
probably benign |
|
|
R0193:Cc2d2a
|
UTSW |
5 |
43,736,118 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0201:Cc2d2a
|
UTSW |
5 |
43,737,512 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0211:Cc2d2a
|
UTSW |
5 |
43,688,266 (GRCm38) |
splice site |
probably null |
|
|
R0243:Cc2d2a
|
UTSW |
5 |
43,696,638 (GRCm38) |
splice site |
probably benign |
|
|
R0317:Cc2d2a
|
UTSW |
5 |
43,706,901 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0453:Cc2d2a
|
UTSW |
5 |
43,703,294 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0558:Cc2d2a
|
UTSW |
5 |
43,724,387 (GRCm38) |
splice site |
probably benign |
|
|
R0624:Cc2d2a
|
UTSW |
5 |
43,730,029 (GRCm38) |
missense |
probably benign |
|
|
R0634:Cc2d2a
|
UTSW |
5 |
43,681,381 (GRCm38) |
splice site |
probably benign |
|
|
R1503:Cc2d2a
|
UTSW |
5 |
43,695,239 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1635:Cc2d2a
|
UTSW |
5 |
43,722,470 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1686:Cc2d2a
|
UTSW |
5 |
43,739,371 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R1715:Cc2d2a
|
UTSW |
5 |
43,718,661 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1765:Cc2d2a
|
UTSW |
5 |
43,714,531 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1794:Cc2d2a
|
UTSW |
5 |
43,688,252 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1881:Cc2d2a
|
UTSW |
5 |
43,740,828 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1917:Cc2d2a
|
UTSW |
5 |
43,706,222 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2005:Cc2d2a
|
UTSW |
5 |
43,726,373 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2201:Cc2d2a
|
UTSW |
5 |
43,684,033 (GRCm38) |
splice site |
probably benign |
|
|
R2244:Cc2d2a
|
UTSW |
5 |
43,732,433 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2368:Cc2d2a
|
UTSW |
5 |
43,703,888 (GRCm38) |
missense |
probably benign |
|
|
R2442:Cc2d2a
|
UTSW |
5 |
43,671,305 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2511:Cc2d2a
|
UTSW |
5 |
43,735,395 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3023:Cc2d2a
|
UTSW |
5 |
43,685,251 (GRCm38) |
splice site |
probably null |
|
|
R3147:Cc2d2a
|
UTSW |
5 |
43,709,155 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3148:Cc2d2a
|
UTSW |
5 |
43,709,155 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3426:Cc2d2a
|
UTSW |
5 |
43,736,109 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3609:Cc2d2a
|
UTSW |
5 |
43,712,326 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3610:Cc2d2a
|
UTSW |
5 |
43,712,326 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3611:Cc2d2a
|
UTSW |
5 |
43,712,326 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3839:Cc2d2a
|
UTSW |
5 |
43,718,714 (GRCm38) |
missense |
probably benign |
|
|
R3870:Cc2d2a
|
UTSW |
5 |
43,718,691 (GRCm38) |
nonsense |
probably null |
|
|
R4334:Cc2d2a
|
UTSW |
5 |
43,683,134 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4913:Cc2d2a
|
UTSW |
5 |
43,739,323 (GRCm38) |
missense |
probably benign |
0.12 |
|
R5179:Cc2d2a
|
UTSW |
5 |
43,688,221 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5315:Cc2d2a
|
UTSW |
5 |
43,720,433 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5352:Cc2d2a
|
UTSW |
5 |
43,706,213 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5386:Cc2d2a
|
UTSW |
5 |
43,730,041 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5538:Cc2d2a
|
UTSW |
5 |
43,695,176 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5568:Cc2d2a
|
UTSW |
5 |
43,709,091 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5618:Cc2d2a
|
UTSW |
5 |
43,729,907 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5653:Cc2d2a
|
UTSW |
5 |
43,722,462 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R5817:Cc2d2a
|
UTSW |
5 |
43,712,418 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5858:Cc2d2a
|
UTSW |
5 |
43,715,775 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5905:Cc2d2a
|
UTSW |
5 |
43,712,426 (GRCm38) |
missense |
probably benign |
|
|
R5912:Cc2d2a
|
UTSW |
5 |
43,720,430 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6073:Cc2d2a
|
UTSW |
5 |
43,729,975 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6084:Cc2d2a
|
UTSW |
5 |
43,668,673 (GRCm38) |
missense |
probably benign |
|
|
R6142:Cc2d2a
|
UTSW |
5 |
43,703,198 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6176:Cc2d2a
|
UTSW |
5 |
43,709,113 (GRCm38) |
missense |
probably benign |
0.32 |
|
R6238:Cc2d2a
|
UTSW |
5 |
43,671,235 (GRCm38) |
missense |
probably benign |
0.11 |
|
R6381:Cc2d2a
|
UTSW |
5 |
43,715,776 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R6404:Cc2d2a
|
UTSW |
5 |
43,704,074 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R6455:Cc2d2a
|
UTSW |
5 |
43,739,412 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R6695:Cc2d2a
|
UTSW |
5 |
43,718,677 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6805:Cc2d2a
|
UTSW |
5 |
43,681,331 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6919:Cc2d2a
|
UTSW |
5 |
43,703,215 (GRCm38) |
missense |
probably benign |
0.19 |
|
R6970:Cc2d2a
|
UTSW |
5 |
43,718,585 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7024:Cc2d2a
|
UTSW |
5 |
43,733,929 (GRCm38) |
missense |
probably benign |
0.10 |
|
R7054:Cc2d2a
|
UTSW |
5 |
43,699,979 (GRCm38) |
nonsense |
probably null |
|
|
R7071:Cc2d2a
|
UTSW |
5 |
43,709,113 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7098:Cc2d2a
|
UTSW |
5 |
43,683,139 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7366:Cc2d2a
|
UTSW |
5 |
43,729,990 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7908:Cc2d2a
|
UTSW |
5 |
43,706,846 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7920:Cc2d2a
|
UTSW |
5 |
43,739,309 (GRCm38) |
missense |
probably benign |
0.09 |
|
R7950:Cc2d2a
|
UTSW |
5 |
43,695,296 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8007:Cc2d2a
|
UTSW |
5 |
43,706,100 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R8117:Cc2d2a
|
UTSW |
5 |
43,712,439 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8123:Cc2d2a
|
UTSW |
5 |
43,710,554 (GRCm38) |
missense |
probably benign |
|
|
R8179:Cc2d2a
|
UTSW |
5 |
43,699,953 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8279:Cc2d2a
|
UTSW |
5 |
43,736,145 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8293:Cc2d2a
|
UTSW |
5 |
43,688,228 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8480:Cc2d2a
|
UTSW |
5 |
43,685,144 (GRCm38) |
splice site |
probably null |
|
|
R8482:Cc2d2a
|
UTSW |
5 |
43,695,239 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8731:Cc2d2a
|
UTSW |
5 |
43,735,446 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8780:Cc2d2a
|
UTSW |
5 |
43,739,350 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8784:Cc2d2a
|
UTSW |
5 |
43,703,303 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R8871:Cc2d2a
|
UTSW |
5 |
43,699,943 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R8972:Cc2d2a
|
UTSW |
5 |
43,710,542 (GRCm38) |
missense |
probably benign |
|
|
R9122:Cc2d2a
|
UTSW |
5 |
43,673,739 (GRCm38) |
missense |
probably null |
0.07 |
|
R9125:Cc2d2a
|
UTSW |
5 |
43,703,221 (GRCm38) |
missense |
probably benign |
|
|
R9203:Cc2d2a
|
UTSW |
5 |
43,733,837 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9310:Cc2d2a
|
UTSW |
5 |
43,695,146 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9343:Cc2d2a
|
UTSW |
5 |
43,718,657 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9353:Cc2d2a
|
UTSW |
5 |
43,703,349 (GRCm38) |
critical splice donor site |
probably null |
|
|
Z1177:Cc2d2a
|
UTSW |
5 |
43,703,204 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
|
| Posted On |
2014-05-14 |
Incidental Mutation