Incidental Mutation 'R7054:Cc2d2a'
| ID |
547764 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cc2d2a
|
| Ensembl Gene |
ENSMUSG00000039765 |
| Gene Name |
coiled-coil and C2 domain containing 2A |
| Synonyms |
b2b1035Clo, 5730509K17Rik |
| MMRRC Submission |
045151-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.914)
|
| Stock # |
R7054 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
43662346-43740972 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 43699979 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 454
(R454*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048150]
[ENSMUST00000125866]
|
| AlphaFold |
Q8CFW7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000048150
AA Change: R503*
|
| SMART Domains |
Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765
AA Change: R503*
| 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
AA Change: R454*
|
| SMART Domains |
Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765
AA Change: R454*
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
94% (67/71) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
A |
4: 88,868,249 (GRCm38) |
H44L |
unknown |
Het |
| Abcc3 |
T |
C |
11: 94,365,225 (GRCm38) |
K478R |
probably benign |
Het |
| Ank2 |
A |
T |
3: 126,943,303 (GRCm38) |
|
probably benign |
Het |
| Apod |
A |
G |
16: 31,311,132 (GRCm38) |
V2A |
probably benign |
Het |
| Armh4 |
C |
A |
14: 49,773,698 (GRCm38) |
S184I |
probably damaging |
Het |
| Aspg |
T |
A |
12: 112,126,390 (GRCm38) |
D530E |
probably damaging |
Het |
| Atxn7 |
A |
T |
14: 14,100,878 (GRCm38) |
T855S |
probably benign |
Het |
| Blmh |
G |
C |
11: 76,968,625 (GRCm38) |
G351R |
probably damaging |
Het |
| Cenpp |
T |
C |
13: 49,465,757 (GRCm38) |
E188G |
probably damaging |
Het |
| Cimip3 |
A |
G |
17: 47,437,189 (GRCm38) |
|
probably null |
Het |
| Creg2 |
T |
C |
1: 39,623,208 (GRCm38) |
E252G |
probably benign |
Het |
| Dot1l |
A |
G |
10: 80,787,023 (GRCm38) |
Y636C |
probably damaging |
Het |
| Dpy30 |
A |
G |
17: 74,307,840 (GRCm38) |
I36T |
probably benign |
Het |
| Eed |
A |
G |
7: 89,964,727 (GRCm38) |
|
probably null |
Het |
| Fmn1 |
A |
G |
2: 113,365,008 (GRCm38) |
D351G |
unknown |
Het |
| Fra10ac1 |
C |
T |
19: 38,224,119 (GRCm38) |
|
probably benign |
Het |
| Gdpd4 |
T |
A |
7: 97,973,929 (GRCm38) |
I249N |
probably damaging |
Het |
| Glb1l2 |
A |
T |
9: 26,765,127 (GRCm38) |
V600D |
probably null |
Het |
| Gm13889 |
A |
T |
2: 93,957,114 (GRCm38) |
|
probably benign |
Het |
| Gm17654 |
T |
A |
14: 43,575,870 (GRCm38) |
N188Y |
|
Het |
| Gm3327 |
T |
C |
14: 44,126,275 (GRCm38) |
F112S |
|
Het |
| H2-Ab1 |
T |
C |
17: 34,263,342 (GRCm38) |
S11P |
probably benign |
Het |
| Hcn4 |
T |
C |
9: 58,855,717 (GRCm38) |
S522P |
unknown |
Het |
| Hfm1 |
T |
C |
5: 106,896,043 (GRCm38) |
T576A |
probably benign |
Het |
| Hoxa1 |
A |
G |
6: 52,158,200 (GRCm38) |
S8P |
probably damaging |
Het |
| Hoxd13 |
A |
G |
2: 74,669,025 (GRCm38) |
Y239C |
probably damaging |
Het |
| Ifih1 |
T |
A |
2: 62,610,515 (GRCm38) |
I485L |
probably benign |
Het |
| Ift52 |
G |
A |
2: 163,029,796 (GRCm38) |
V183M |
probably damaging |
Het |
| Ikbkb |
A |
G |
8: 22,671,642 (GRCm38) |
V410A |
possibly damaging |
Het |
| Il22ra1 |
G |
A |
4: 135,751,162 (GRCm38) |
V515I |
probably benign |
Het |
| Klk1b3 |
A |
T |
7: 44,201,439 (GRCm38) |
I132F |
probably damaging |
Het |
| Limk2 |
T |
C |
11: 3,355,448 (GRCm38) |
T206A |
possibly damaging |
Het |
| Llph |
A |
T |
10: 120,231,335 (GRCm38) |
|
probably benign |
Het |
| Lrrc26 |
T |
A |
2: 25,290,075 (GRCm38) |
D29E |
probably benign |
Het |
| Ltbp4 |
A |
G |
7: 27,307,766 (GRCm38) |
|
probably null |
Het |
| Mageb3 |
A |
T |
2: 121,954,492 (GRCm38) |
V243E |
probably damaging |
Het |
| Mfhas1 |
T |
C |
8: 35,588,638 (GRCm38) |
V89A |
probably benign |
Het |
| Mycbp2 |
G |
A |
14: 103,156,098 (GRCm38) |
T2899I |
possibly damaging |
Het |
| Nckap5 |
A |
T |
1: 126,258,712 (GRCm38) |
|
probably null |
Het |
| Ncor1 |
T |
C |
11: 62,384,793 (GRCm38) |
D530G |
probably null |
Het |
| Or10ag55-ps1 |
T |
A |
2: 87,284,431 (GRCm38) |
M47K |
probably benign |
Het |
| Or56a3b |
C |
T |
7: 105,121,963 (GRCm38) |
R169* |
probably null |
Het |
| Pax4 |
A |
G |
6: 28,446,323 (GRCm38) |
I57T |
probably damaging |
Het |
| Peg12 |
T |
C |
7: 62,463,963 (GRCm38) |
I129V |
possibly damaging |
Het |
| Pex6 |
G |
A |
17: 46,720,521 (GRCm38) |
A416T |
probably benign |
Het |
| Pgghg |
G |
A |
7: 140,944,718 (GRCm38) |
R326H |
probably benign |
Het |
| Pgk2 |
T |
A |
17: 40,208,475 (GRCm38) |
M21L |
probably benign |
Het |
| Polh |
A |
T |
17: 46,198,716 (GRCm38) |
W64R |
probably benign |
Het |
| Rassf7 |
T |
A |
7: 141,217,643 (GRCm38) |
H256Q |
probably benign |
Het |
| Rc3h2 |
A |
G |
2: 37,375,246 (GRCm38) |
M1184T |
probably benign |
Het |
| Ror1 |
A |
T |
4: 100,442,239 (GRCm38) |
E936D |
probably benign |
Het |
| Skic3 |
G |
A |
13: 76,134,960 (GRCm38) |
A769T |
probably damaging |
Het |
| Slco1b2 |
A |
T |
6: 141,672,248 (GRCm38) |
T440S |
probably damaging |
Het |
| Specc1 |
T |
A |
11: 62,117,778 (GRCm38) |
V40E |
probably damaging |
Het |
| Tarbp1 |
T |
A |
8: 126,474,495 (GRCm38) |
S191C |
possibly damaging |
Het |
| Timm22 |
A |
G |
11: 76,407,245 (GRCm38) |
E14G |
possibly damaging |
Het |
| Tpp2 |
T |
A |
1: 43,983,158 (GRCm38) |
D905E |
probably damaging |
Het |
| Trav7-5 |
T |
C |
14: 53,531,299 (GRCm38) |
L108P |
probably damaging |
Het |
| Ttc9b |
A |
G |
7: 27,654,242 (GRCm38) |
T106A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,714,668 (GRCm38) |
S32697G |
probably damaging |
Het |
| Usp17la |
T |
G |
7: 104,861,307 (GRCm38) |
L373R |
probably benign |
Het |
| Vmn1r113 |
A |
G |
7: 20,787,502 (GRCm38) |
N73S |
probably benign |
Het |
| Vmn1r42 |
T |
C |
6: 89,845,069 (GRCm38) |
T173A |
possibly damaging |
Het |
| Vmn2r106 |
A |
G |
17: 20,278,920 (GRCm38) |
V243A |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,559,051 (GRCm38) |
N549S |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,823,610 (GRCm38) |
D591V |
probably damaging |
Het |
| Zc3h13 |
T |
C |
14: 75,321,787 (GRCm38) |
S379P |
probably benign |
Het |
| Zfp870 |
T |
C |
17: 32,883,482 (GRCm38) |
Y292C |
probably damaging |
Het |
| Zfp977 |
A |
T |
7: 42,580,362 (GRCm38) |
N246K |
possibly damaging |
Het |
| Zp1 |
G |
A |
19: 10,918,740 (GRCm38) |
T207M |
probably 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 |
|
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 |
|
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'- CCTGGCAGAACTGTGTTAGAAG -3'
(R):5'- GAGGCTGTTCGCTCATAGTTTC -3'
Sequencing Primer
(F):5'- AGTCGATGTGGTATAGGAAGCTG -3'
(R):5'- AGGCTGTTCGCTCATAGTTTCTAAAC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation