Incidental Mutation 'R1635:Cc2d2a'
| ID |
173057 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cc2d2a
|
| Ensembl Gene |
ENSMUSG00000039765 |
| Gene Name |
coiled-coil and C2 domain containing 2A |
| Synonyms |
b2b1035Clo, 5730509K17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.874)
|
| Stock # |
R1635 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
43662346-43740972 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43722470 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 1076
(W1076R)
|
| 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: W1130R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765
AA Change: W1130R
| 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: W1076R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765
AA Change: W1076R
| 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: 98.3%
- 10x: 96.0%
- 20x: 91.9%
|
| 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: 95 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
T |
2: 25,444,856 (GRCm38) |
I1947F |
probably benign |
Het |
| Adgrd1 |
G |
T |
5: 129,128,907 (GRCm38) |
V182F |
probably damaging |
Het |
| Agmat |
A |
G |
4: 141,747,069 (GRCm38) |
D87G |
probably damaging |
Het |
| AI182371 |
T |
C |
2: 35,088,737 (GRCm38) |
|
probably null |
Het |
| Anapc1 |
G |
T |
2: 128,628,532 (GRCm38) |
H1559Q |
probably damaging |
Het |
| Ankar |
T |
C |
1: 72,650,138 (GRCm38) |
Y1278C |
probably damaging |
Het |
| Arhgef2 |
A |
T |
3: 88,639,321 (GRCm38) |
|
probably null |
Het |
| Arsi |
G |
A |
18: 60,916,651 (GRCm38) |
G202E |
probably benign |
Het |
| Banp |
A |
T |
8: 122,001,011 (GRCm38) |
I130F |
probably damaging |
Het |
| C130050O18Rik |
G |
T |
5: 139,414,493 (GRCm38) |
R100S |
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,496,282 (GRCm38) |
T374A |
possibly damaging |
Het |
| Cdc34 |
T |
G |
10: 79,688,054 (GRCm38) |
S235A |
probably benign |
Het |
| Cdh8 |
G |
T |
8: 99,031,024 (GRCm38) |
H647Q |
probably damaging |
Het |
| Cdk1 |
A |
T |
10: 69,338,547 (GRCm38) |
L282Q |
probably damaging |
Het |
| Ceacam3 |
A |
G |
7: 17,159,977 (GRCm38) |
D471G |
probably damaging |
Het |
| Cltc |
A |
T |
11: 86,757,279 (GRCm38) |
I4N |
probably benign |
Het |
| Cntfr |
T |
A |
4: 41,658,816 (GRCm38) |
E305V |
probably damaging |
Het |
| Cwh43 |
T |
A |
5: 73,434,310 (GRCm38) |
I496N |
probably damaging |
Het |
| Cyp2f2 |
A |
G |
7: 27,129,724 (GRCm38) |
N218S |
probably benign |
Het |
| D16Ertd472e |
A |
G |
16: 78,546,504 (GRCm38) |
|
probably null |
Het |
| Dab2 |
A |
G |
15: 6,429,870 (GRCm38) |
Q400R |
possibly damaging |
Het |
| Dapl1 |
A |
T |
2: 59,496,562 (GRCm38) |
I51F |
probably benign |
Het |
| Drc7 |
G |
A |
8: 95,074,332 (GRCm38) |
|
probably null |
Het |
| Etl4 |
A |
G |
2: 20,806,408 (GRCm38) |
T1101A |
probably damaging |
Het |
| Fam83c |
C |
A |
2: 155,830,051 (GRCm38) |
R488M |
possibly damaging |
Het |
| Fam96b |
A |
T |
8: 104,640,988 (GRCm38) |
I108N |
possibly damaging |
Het |
| Fbxo42 |
A |
G |
4: 141,200,529 (GRCm38) |
T707A |
probably damaging |
Het |
| Fcmr |
A |
T |
1: 130,876,185 (GRCm38) |
|
probably null |
Het |
| Fer1l6 |
G |
C |
15: 58,647,081 (GRCm38) |
K1687N |
probably damaging |
Het |
| Fgd4 |
G |
A |
16: 16,475,029 (GRCm38) |
R275* |
probably null |
Het |
| Fxr2 |
G |
A |
11: 69,641,313 (GRCm38) |
C87Y |
possibly damaging |
Het |
| Gja4 |
A |
T |
4: 127,312,679 (GRCm38) |
I97N |
probably damaging |
Het |
| Gm136 |
A |
G |
4: 34,750,919 (GRCm38) |
|
probably null |
Het |
| Gm14496 |
A |
G |
2: 182,001,044 (GRCm38) |
D836G |
possibly damaging |
Het |
| Gm8882 |
A |
G |
6: 132,363,006 (GRCm38) |
|
probably null |
Het |
| Grm3 |
T |
A |
5: 9,511,520 (GRCm38) |
T777S |
probably damaging |
Het |
| Guca2b |
A |
G |
4: 119,657,715 (GRCm38) |
Y50H |
probably damaging |
Het |
| Herc2 |
C |
T |
7: 56,136,667 (GRCm38) |
P1587S |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,669,558 (GRCm38) |
S2766N |
probably benign |
Het |
| Idi2 |
T |
A |
13: 8,959,419 (GRCm38) |
I224K |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,824,369 (GRCm38) |
|
probably benign |
Het |
| Lonp2 |
A |
T |
8: 86,713,450 (GRCm38) |
M693L |
possibly damaging |
Het |
| Megf8 |
G |
T |
7: 25,346,747 (GRCm38) |
M1525I |
possibly damaging |
Het |
| Mgme1 |
T |
C |
2: 144,279,098 (GRCm38) |
V276A |
possibly damaging |
Het |
| Mief2 |
G |
T |
11: 60,731,408 (GRCm38) |
W268L |
probably damaging |
Het |
| Mpped1 |
C |
T |
15: 83,791,990 (GRCm38) |
|
probably benign |
Het |
| Mreg |
T |
C |
1: 72,192,197 (GRCm38) |
N34S |
probably benign |
Het |
| Myf6 |
T |
C |
10: 107,494,673 (GRCm38) |
Y11C |
probably damaging |
Het |
| Myh9 |
A |
T |
15: 77,775,899 (GRCm38) |
D56E |
probably benign |
Het |
| Myh9 |
C |
A |
15: 77,771,167 (GRCm38) |
Q1196H |
probably benign |
Het |
| Myo5c |
A |
T |
9: 75,277,075 (GRCm38) |
R949S |
probably benign |
Het |
| Ncapg2 |
TAA |
TA |
12: 116,434,685 (GRCm38) |
|
probably null |
Het |
| Nfx1 |
T |
A |
4: 40,977,004 (GRCm38) |
V226E |
probably benign |
Het |
| Nlrp10 |
T |
A |
7: 108,924,530 (GRCm38) |
K581M |
possibly damaging |
Het |
| Nmd3 |
T |
G |
3: 69,739,984 (GRCm38) |
I273S |
probably benign |
Het |
| Olfr1264 |
A |
T |
2: 90,021,970 (GRCm38) |
I32N |
possibly damaging |
Het |
| P4hb |
T |
C |
11: 120,571,616 (GRCm38) |
E88G |
probably damaging |
Het |
| Pcnx3 |
A |
T |
19: 5,665,745 (GRCm38) |
H1444Q |
probably benign |
Het |
| Pdia4 |
A |
T |
6: 47,799,199 (GRCm38) |
F421L |
possibly damaging |
Het |
| Picalm |
T |
A |
7: 90,191,251 (GRCm38) |
S538T |
probably damaging |
Het |
| Ppp2r2b |
T |
A |
18: 43,059,210 (GRCm38) |
I11F |
probably benign |
Het |
| Ptk7 |
C |
T |
17: 46,573,534 (GRCm38) |
E757K |
possibly damaging |
Het |
| Rbm22 |
T |
G |
18: 60,561,268 (GRCm38) |
C24W |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,806,662 (GRCm38) |
D288G |
probably damaging |
Het |
| Rgs18 |
T |
A |
1: 144,754,053 (GRCm38) |
H156L |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,442,579 (GRCm38) |
I2871M |
probably damaging |
Het |
| Rrm2b |
A |
T |
15: 37,945,084 (GRCm38) |
M137K |
probably damaging |
Het |
| Rrp12 |
A |
T |
19: 41,868,785 (GRCm38) |
D1183E |
probably benign |
Het |
| Sacs |
G |
A |
14: 61,203,828 (GRCm38) |
V1108M |
probably damaging |
Het |
| Scube2 |
A |
T |
7: 109,843,214 (GRCm38) |
D270E |
possibly damaging |
Het |
| Serpina3a |
T |
A |
12: 104,116,478 (GRCm38) |
F170Y |
probably damaging |
Het |
| Serpinb3b |
T |
C |
1: 107,154,673 (GRCm38) |
E287G |
probably benign |
Het |
| Slamf8 |
C |
T |
1: 172,584,619 (GRCm38) |
V130M |
probably damaging |
Het |
| Slc5a3 |
T |
C |
16: 92,077,396 (GRCm38) |
S114P |
possibly damaging |
Het |
| Sos1 |
T |
A |
17: 80,422,679 (GRCm38) |
|
probably null |
Het |
| Sox10 |
A |
T |
15: 79,156,460 (GRCm38) |
D293E |
probably damaging |
Het |
| Sphk1 |
A |
G |
11: 116,535,770 (GRCm38) |
D177G |
probably damaging |
Het |
| Sphkap |
T |
G |
1: 83,278,400 (GRCm38) |
M543L |
probably benign |
Het |
| Syt13 |
A |
T |
2: 92,953,415 (GRCm38) |
K343N |
probably damaging |
Het |
| Tatdn3 |
A |
G |
1: 191,060,176 (GRCm38) |
M34T |
probably benign |
Het |
| Timd4 |
T |
G |
11: 46,842,162 (GRCm38) |
V305G |
possibly damaging |
Het |
| Tnnc2 |
T |
C |
2: 164,777,592 (GRCm38) |
I111V |
probably benign |
Het |
| Togaram2 |
C |
T |
17: 71,697,851 (GRCm38) |
P301L |
probably benign |
Het |
| Trpc3 |
T |
C |
3: 36,640,627 (GRCm38) |
N726S |
probably damaging |
Het |
| Tspear |
T |
A |
10: 77,870,419 (GRCm38) |
L341H |
possibly damaging |
Het |
| Ugt1a5 |
T |
A |
1: 88,166,083 (GRCm38) |
|
probably benign |
Het |
| Ulk3 |
A |
T |
9: 57,593,160 (GRCm38) |
|
probably null |
Het |
| Unc5d |
T |
A |
8: 28,760,749 (GRCm38) |
I297L |
probably benign |
Het |
| Usp20 |
A |
G |
2: 31,018,818 (GRCm38) |
I804V |
probably benign |
Het |
| Usp22 |
G |
T |
11: 61,161,318 (GRCm38) |
C278* |
probably null |
Het |
| Usp53 |
A |
T |
3: 122,934,223 (GRCm38) |
N903K |
probably benign |
Het |
| V1rd19 |
T |
C |
7: 24,003,387 (GRCm38) |
F93L |
probably benign |
Het |
| Zdbf2 |
T |
A |
1: 63,304,334 (GRCm38) |
V624E |
possibly damaging |
Het |
| Zfyve16 |
A |
T |
13: 92,509,020 (GRCm38) |
S1073T |
probably damaging |
Het |
| Zkscan8 |
T |
C |
13: 21,526,595 (GRCm38) |
H115R |
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 |
|
R1686:Cc2d2a
|
UTSW |
5 |
43,739,371 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R1707:Cc2d2a
|
UTSW |
5 |
43,723,688 (GRCm38) |
splice site |
probably null |
|
|
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 |
PCR Primer
(F):5'- ACTCCTGAACAGACTTCCTGTTTCATTC -3'
(R):5'- AGGGCATTTTGGGCACTAAACTAGTAAA -3'
Sequencing Primer
(F):5'- TGCCTGAGATAGAAAATGTTCAC -3'
(R):5'- tctttttctcttttctcttctcttcc -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation