Incidental Mutation 'R1686:Cc2d2a'
| ID |
189333 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cc2d2a
|
| Ensembl Gene |
ENSMUSG00000039765 |
| Gene Name |
coiled-coil and C2 domain containing 2A |
| Synonyms |
b2b1035Clo, 5730509K17Rik |
| MMRRC Submission |
039719-MU
|
| Accession Numbers |
Genbank: NM_172274; MGI: 1924487 |
| Essential gene? |
Probably essential
(E-score: 0.874)
|
| Stock # |
R1686 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
43662346-43740972 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43739371 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1537
(T1537A)
|
| 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: T1537A
PolyPhen 2
Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765
AA Change: T1537A
| 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
|
| 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 |
|
| Meta Mutation Damage Score |
0.0870 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
| Validation Efficiency |
100% (85/85) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
G |
A |
10: 100,612,860 (GRCm38) |
V400I |
probably damaging |
Het |
| Abcb1b |
A |
G |
5: 8,798,782 (GRCm38) |
N14S |
probably damaging |
Het |
| Adamts14 |
A |
G |
10: 61,198,660 (GRCm38) |
Y1150H |
probably benign |
Het |
| Adgrg3 |
A |
G |
8: 95,033,369 (GRCm38) |
N72S |
probably benign |
Het |
| Akain1 |
T |
A |
17: 69,439,532 (GRCm38) |
F3I |
possibly damaging |
Het |
| Akr1c21 |
T |
C |
13: 4,577,453 (GRCm38) |
L182P |
probably damaging |
Het |
| Arhgap21 |
A |
T |
2: 20,881,848 (GRCm38) |
Y12N |
probably damaging |
Het |
| Aup1 |
A |
T |
6: 83,055,245 (GRCm38) |
H131L |
probably damaging |
Het |
| Bag6 |
A |
G |
17: 35,144,952 (GRCm38) |
T812A |
possibly damaging |
Het |
| BC005561 |
T |
A |
5: 104,519,923 (GRCm38) |
Y770* |
probably null |
Het |
| Bmp2k |
A |
G |
5: 97,063,533 (GRCm38) |
Y520C |
unknown |
Het |
| Calm4 |
T |
G |
13: 3,838,302 (GRCm38) |
V136G |
probably damaging |
Het |
| Catsper2 |
A |
G |
2: 121,400,042 (GRCm38) |
|
probably null |
Het |
| Cntn2 |
A |
T |
1: 132,526,311 (GRCm38) |
V319D |
possibly damaging |
Het |
| Cux1 |
G |
A |
5: 136,275,381 (GRCm38) |
R1314* |
probably null |
Het |
| Cxcl12 |
A |
G |
6: 117,173,547 (GRCm38) |
I79V |
probably damaging |
Het |
| Cyp2j6 |
T |
C |
4: 96,523,777 (GRCm38) |
D418G |
probably benign |
Het |
| Ddx28 |
G |
C |
8: 106,010,558 (GRCm38) |
D289E |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,312,387 (GRCm38) |
T57I |
probably benign |
Het |
| Fam135a |
A |
C |
1: 24,029,806 (GRCm38) |
S448A |
probably benign |
Het |
| Fbxo33 |
G |
T |
12: 59,204,840 (GRCm38) |
N30K |
possibly damaging |
Het |
| Fgf12 |
A |
C |
16: 28,398,341 (GRCm38) |
Y21D |
probably damaging |
Het |
| Galntl5 |
C |
T |
5: 25,210,434 (GRCm38) |
S288L |
probably benign |
Het |
| Gart |
G |
T |
16: 91,625,349 (GRCm38) |
A760D |
probably damaging |
Het |
| Gba2 |
A |
T |
4: 43,573,869 (GRCm38) |
|
probably benign |
Het |
| Gm10518 |
C |
A |
1: 179,803,792 (GRCm38) |
S139* |
probably null |
Het |
| Gm4781 |
A |
T |
10: 100,396,975 (GRCm38) |
|
noncoding transcript |
Het |
| Gm9790 |
A |
G |
3: 85,915,849 (GRCm38) |
|
noncoding transcript |
Het |
| Gmps |
G |
A |
3: 63,985,654 (GRCm38) |
G127R |
probably damaging |
Het |
| Golim4 |
A |
T |
3: 75,895,136 (GRCm38) |
V283E |
probably benign |
Het |
| Gprc5a |
A |
T |
6: 135,078,920 (GRCm38) |
I122F |
possibly damaging |
Het |
| Gzmc |
T |
C |
14: 56,233,884 (GRCm38) |
K67E |
probably benign |
Het |
| Hapln3 |
C |
A |
7: 79,121,890 (GRCm38) |
V84L |
probably benign |
Het |
| Hif3a |
T |
A |
7: 17,044,864 (GRCm38) |
N377Y |
possibly damaging |
Het |
| Ifi211 |
G |
A |
1: 173,899,403 (GRCm38) |
H392Y |
probably damaging |
Het |
| Iqgap3 |
T |
A |
3: 88,108,356 (GRCm38) |
|
probably benign |
Het |
| Itga10 |
T |
A |
3: 96,651,825 (GRCm38) |
F410Y |
probably damaging |
Het |
| Jup |
T |
C |
11: 100,372,434 (GRCm38) |
Y705C |
probably damaging |
Het |
| Khsrp |
C |
T |
17: 57,025,597 (GRCm38) |
A228T |
probably benign |
Het |
| Lmntd2 |
C |
T |
7: 141,211,085 (GRCm38) |
G445D |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,634,705 (GRCm38) |
V320A |
possibly damaging |
Het |
| Magel2 |
T |
A |
7: 62,378,240 (GRCm38) |
H297Q |
possibly damaging |
Het |
| Mbd6 |
T |
C |
10: 127,287,417 (GRCm38) |
E33G |
probably damaging |
Het |
| Mob3b |
A |
G |
4: 34,985,910 (GRCm38) |
|
probably benign |
Het |
| Mroh2a |
C |
T |
1: 88,230,680 (GRCm38) |
R150* |
probably null |
Het |
| Mroh2a |
T |
C |
1: 88,234,612 (GRCm38) |
|
probably null |
Het |
| Mymk |
A |
T |
2: 27,062,334 (GRCm38) |
W174R |
probably damaging |
Het |
| Nckap1 |
C |
T |
2: 80,517,942 (GRCm38) |
S889N |
probably benign |
Het |
| Nipal3 |
T |
C |
4: 135,447,288 (GRCm38) |
Y384C |
possibly damaging |
Het |
| Nt5c3b |
A |
G |
11: 100,440,094 (GRCm38) |
|
probably benign |
Het |
| Obox6 |
T |
A |
7: 15,833,825 (GRCm38) |
L232F |
probably damaging |
Het |
| Obscn |
A |
C |
11: 59,106,287 (GRCm38) |
|
probably benign |
Het |
| Olfr834 |
T |
C |
9: 18,988,543 (GRCm38) |
L185P |
probably damaging |
Het |
| Phkb |
A |
G |
8: 86,021,649 (GRCm38) |
I706V |
probably benign |
Het |
| Plcb2 |
A |
G |
2: 118,715,687 (GRCm38) |
|
probably benign |
Het |
| Plek2 |
T |
C |
12: 78,894,410 (GRCm38) |
D216G |
probably damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,162,462 (GRCm38) |
Y855C |
probably damaging |
Het |
| Prkcz |
T |
C |
4: 155,271,256 (GRCm38) |
T227A |
probably damaging |
Het |
| Psma7 |
A |
T |
2: 180,037,422 (GRCm38) |
D184E |
probably benign |
Het |
| Rai14 |
T |
A |
15: 10,592,196 (GRCm38) |
L204F |
probably damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,358,000 (GRCm38) |
V1208A |
probably benign |
Het |
| Rapgef6 |
A |
G |
11: 54,691,632 (GRCm38) |
R67G |
possibly damaging |
Het |
| Ryr2 |
C |
T |
13: 11,603,779 (GRCm38) |
|
probably benign |
Het |
| Satb1 |
T |
C |
17: 51,739,999 (GRCm38) |
S763G |
probably benign |
Het |
| Sdk1 |
A |
T |
5: 142,034,537 (GRCm38) |
H690L |
probably benign |
Het |
| Sfrp5 |
A |
C |
19: 42,201,704 (GRCm38) |
V103G |
possibly damaging |
Het |
| Six6 |
A |
G |
12: 72,941,677 (GRCm38) |
E208G |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,460,400 (GRCm38) |
H1364L |
probably benign |
Het |
| Stard9 |
A |
T |
2: 120,699,492 (GRCm38) |
T2077S |
probably benign |
Het |
| Tacr3 |
T |
C |
3: 134,829,493 (GRCm38) |
L74P |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 50,836,788 (GRCm38) |
E1880G |
probably benign |
Het |
| Tgfb3 |
A |
T |
12: 86,069,743 (GRCm38) |
|
probably benign |
Het |
| Thap7 |
G |
A |
16: 17,528,712 (GRCm38) |
P136S |
probably damaging |
Het |
| Tmc2 |
T |
C |
2: 130,256,116 (GRCm38) |
V717A |
possibly damaging |
Het |
| Usp43 |
T |
A |
11: 67,887,767 (GRCm38) |
S446C |
probably damaging |
Het |
| Vwa3a |
C |
T |
7: 120,780,148 (GRCm38) |
S492L |
probably damaging |
Het |
| Wdhd1 |
T |
A |
14: 47,256,215 (GRCm38) |
N16I |
probably damaging |
Het |
| Wdr95 |
A |
T |
5: 149,593,101 (GRCm38) |
D327V |
probably damaging |
Het |
| Zfp128 |
T |
G |
7: 12,890,636 (GRCm38) |
Y310* |
probably null |
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 |
|
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'- CAGCACTATGGCTAATAATGGCTTAGCA -3'
(R):5'- CTTGCAGTTTGAAGATGAGAAGAAGCAC -3'
Sequencing Primer
(F):5'- TAGCTGCTAATCTGCCTAGAAC -3'
(R):5'- GAAGCACTGGTCATTTTGTCAC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation