Incidental Mutation 'R1794:Cc2d2a'
| ID |
202033 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cc2d2a
|
| Ensembl Gene |
ENSMUSG00000039765 |
| Gene Name |
coiled-coil and C2 domain containing 2A |
| Synonyms |
b2b1035Clo, 5730509K17Rik |
| MMRRC Submission |
039824-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.906)
|
| Stock # |
R1794 (G1)
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
43819715-43898317 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 43845594 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 288
(Q288K)
|
| 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: Q337K
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765
AA Change: Q337K
| 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: Q288K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765
AA Change: Q288K
| 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: ENSMUST00000142303
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.7%
- 10x: 94.8%
- 20x: 91.1%
|
| Validation Efficiency |
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa7 |
A |
G |
14: 20,521,535 (GRCm39) |
Y54H |
unknown |
Het |
| Arhgef3 |
A |
G |
14: 27,119,562 (GRCm39) |
T331A |
probably benign |
Het |
| Arhgef40 |
G |
T |
14: 52,227,387 (GRCm39) |
C477F |
possibly damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atp13a5 |
C |
A |
16: 29,140,527 (GRCm39) |
R343L |
probably damaging |
Het |
| Brdt |
ACAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGC |
5: 107,507,719 (GRCm39) |
|
probably benign |
Het |
| Btbd2 |
G |
T |
10: 80,479,747 (GRCm39) |
D426E |
probably damaging |
Het |
| Cabin1 |
A |
C |
10: 75,561,579 (GRCm39) |
I974R |
possibly damaging |
Het |
| Cacna1i |
G |
A |
15: 80,273,323 (GRCm39) |
V1670M |
probably damaging |
Het |
| Ccl20 |
T |
A |
1: 83,095,550 (GRCm39) |
I37K |
possibly damaging |
Het |
| Cdcp1 |
A |
G |
9: 123,019,159 (GRCm39) |
V40A |
probably benign |
Het |
| Cdcp1 |
T |
C |
9: 123,044,896 (GRCm39) |
T27A |
probably benign |
Het |
| Cdh4 |
C |
T |
2: 179,528,635 (GRCm39) |
T581I |
probably damaging |
Het |
| Cgn |
A |
G |
3: 94,669,864 (GRCm39) |
|
probably null |
Het |
| Col7a1 |
G |
A |
9: 108,794,996 (GRCm39) |
G1493D |
unknown |
Het |
| Creb3 |
A |
G |
4: 43,563,302 (GRCm39) |
E133G |
probably benign |
Het |
| Dchs1 |
T |
C |
7: 105,420,927 (GRCm39) |
T498A |
probably benign |
Het |
| Dis3l |
A |
C |
9: 64,225,058 (GRCm39) |
V413G |
possibly damaging |
Het |
| Dnah6 |
T |
C |
6: 73,001,941 (GRCm39) |
E3865G |
probably damaging |
Het |
| Fam219b |
A |
G |
9: 57,446,564 (GRCm39) |
Y139C |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 15,908,432 (GRCm39) |
Y2523* |
probably null |
Het |
| Fat3 |
A |
T |
9: 15,908,434 (GRCm39) |
Y2523N |
probably benign |
Het |
| Fmnl1 |
T |
C |
11: 103,087,973 (GRCm39) |
S40P |
probably benign |
Het |
| Gm4792 |
T |
C |
10: 94,134,352 (GRCm39) |
D6G |
unknown |
Het |
| Hhat |
G |
T |
1: 192,376,214 (GRCm39) |
Y306* |
probably null |
Het |
| Hmcn1 |
A |
G |
1: 150,474,036 (GRCm39) |
I4802T |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,502,903 (GRCm39) |
T3908I |
probably damaging |
Het |
| Hsph1 |
A |
T |
5: 149,554,238 (GRCm39) |
N79K |
probably damaging |
Het |
| Ikbke |
T |
A |
1: 131,186,955 (GRCm39) |
Y579F |
probably damaging |
Het |
| Jak2 |
A |
G |
19: 29,276,957 (GRCm39) |
D838G |
probably benign |
Het |
| Klhdc7b |
T |
C |
15: 89,271,223 (GRCm39) |
S702P |
probably benign |
Het |
| Lingo3 |
C |
A |
10: 80,671,432 (GRCm39) |
R166L |
probably benign |
Het |
| Lins1 |
T |
C |
7: 66,361,657 (GRCm39) |
F436S |
probably damaging |
Het |
| Lman1 |
T |
C |
18: 66,124,755 (GRCm39) |
D328G |
probably benign |
Het |
| Lox |
A |
G |
18: 52,661,379 (GRCm39) |
C232R |
probably damaging |
Het |
| Lrrc59 |
T |
C |
11: 94,529,421 (GRCm39) |
V165A |
probably benign |
Het |
| Map9 |
A |
G |
3: 82,287,528 (GRCm39) |
D50G |
probably damaging |
Het |
| Marchf1 |
T |
A |
8: 66,839,594 (GRCm39) |
Y126N |
possibly damaging |
Het |
| Mcf2l |
T |
C |
8: 12,965,982 (GRCm39) |
F3L |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Nin |
G |
A |
12: 70,090,569 (GRCm39) |
Q949* |
probably null |
Het |
| Nlgn3 |
A |
G |
X: 100,363,639 (GRCm39) |
H636R |
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,006,863 (GRCm39) |
D411G |
possibly damaging |
Het |
| Or4c52 |
A |
G |
2: 89,845,364 (GRCm39) |
Y30C |
probably damaging |
Het |
| Or5b24 |
G |
C |
19: 12,912,332 (GRCm39) |
A77P |
probably damaging |
Het |
| Pate7 |
T |
A |
9: 35,688,418 (GRCm39) |
I56F |
probably benign |
Het |
| Plekha7 |
A |
G |
7: 115,739,916 (GRCm39) |
V579A |
probably damaging |
Het |
| Prrc2c |
T |
C |
1: 162,533,528 (GRCm39) |
|
probably benign |
Het |
| Rab7b |
T |
C |
1: 131,624,806 (GRCm39) |
|
probably null |
Het |
| Reg3b |
G |
T |
6: 78,349,197 (GRCm39) |
|
probably null |
Het |
| Rgs20 |
A |
G |
1: 4,980,795 (GRCm39) |
Y177H |
probably damaging |
Het |
| Ripk3 |
G |
T |
14: 56,022,786 (GRCm39) |
N379K |
probably benign |
Het |
| Rnf220 |
G |
T |
4: 117,164,765 (GRCm39) |
Q7K |
probably benign |
Het |
| Ros1 |
T |
A |
10: 52,000,199 (GRCm39) |
K1109* |
probably null |
Het |
| Slc22a7 |
T |
G |
17: 46,744,079 (GRCm39) |
R460S |
probably damaging |
Het |
| Slc4a2 |
A |
G |
5: 24,644,326 (GRCm39) |
M975V |
probably damaging |
Het |
| Slc4a3 |
A |
T |
1: 75,533,952 (GRCm39) |
I1100F |
probably damaging |
Het |
| Smco1 |
A |
G |
16: 32,092,950 (GRCm39) |
E207G |
probably benign |
Het |
| Snrnp200 |
A |
G |
2: 127,058,656 (GRCm39) |
E369G |
probably benign |
Het |
| Spata31d1e |
T |
C |
13: 59,890,434 (GRCm39) |
E44G |
probably benign |
Het |
| Tcf4 |
T |
A |
18: 69,790,924 (GRCm39) |
M178K |
probably benign |
Het |
| Tex2 |
T |
C |
11: 106,458,728 (GRCm39) |
|
probably benign |
Het |
| Tjp1 |
A |
T |
7: 64,972,877 (GRCm39) |
I521N |
probably damaging |
Het |
| Tmem203 |
A |
G |
2: 25,146,006 (GRCm39) |
T109A |
probably benign |
Het |
| Tmem50b |
T |
C |
16: 91,374,917 (GRCm39) |
I126V |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,595,006 (GRCm39) |
F3813L |
probably benign |
Het |
| Vmn1r203 |
C |
T |
13: 22,708,521 (GRCm39) |
R101W |
probably damaging |
Het |
| Vmn2r79 |
G |
A |
7: 86,650,621 (GRCm39) |
V136I |
probably benign |
Het |
| Wdr38 |
A |
G |
2: 38,890,741 (GRCm39) |
Y205C |
probably damaging |
Het |
| Zfp248 |
A |
G |
6: 118,406,264 (GRCm39) |
F442L |
probably damaging |
Het |
| Znrf4 |
A |
G |
17: 56,818,599 (GRCm39) |
I236T |
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 |
|
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'- CCCAAATGGCAGTTTGAAGG -3'
(R):5'- GGGACCTAAGAAATGTCAGCTTCTAG -3'
Sequencing Primer
(F):5'- CCCAAATGGCAGTTTGAAGGTTGAG -3'
(R):5'- CAGCTTCTAGTTCTCAGTGGACATG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation