Incidental Mutation 'R5568:Cc2d2a'
| ID |
437005 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cc2d2a
|
| Ensembl Gene |
ENSMUSG00000039765 |
| Gene Name |
coiled-coil and C2 domain containing 2A |
| Synonyms |
b2b1035Clo, 5730509K17Rik |
| MMRRC Submission |
043125-MU
|
| Accession Numbers |
Genbank: NM_172274; MGI: 1924487 |
| Essential gene? |
Probably essential
(E-score: 0.874)
|
| Stock # |
R5568 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
43662346-43740972 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43709091 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 748
(M748V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048150]
[ENSMUST00000125866]
|
| AlphaFold |
Q8CFW7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048150
AA Change: M797V
PolyPhen 2
Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765
AA Change: M797V
| 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: M748V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765
AA Change: M748V
| 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: ENSMUST00000127355
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.0%
|
| 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: 96 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
T |
C |
4: 144,622,794 (GRCm38) |
V207A |
probably benign |
Het |
| Abcc10 |
C |
A |
17: 46,303,908 (GRCm38) |
|
probably null |
Het |
| Abcc9 |
A |
C |
6: 142,689,016 (GRCm38) |
V174G |
possibly damaging |
Het |
| Abl1 |
C |
T |
2: 31,779,074 (GRCm38) |
A155V |
probably damaging |
Het |
| Aco2 |
T |
A |
15: 81,903,586 (GRCm38) |
D212E |
probably damaging |
Het |
| Adam26b |
A |
T |
8: 43,520,492 (GRCm38) |
M491K |
probably benign |
Het |
| Anapc5 |
G |
A |
5: 122,791,925 (GRCm38) |
|
probably benign |
Het |
| Atf7 |
A |
G |
15: 102,563,322 (GRCm38) |
I46T |
probably damaging |
Het |
| Cacna1b |
A |
G |
2: 24,607,600 (GRCm38) |
S2100P |
probably damaging |
Het |
| Capn5 |
T |
A |
7: 98,125,930 (GRCm38) |
D501V |
probably damaging |
Het |
| Cd300c2 |
T |
C |
11: 115,000,836 (GRCm38) |
T71A |
probably damaging |
Het |
| Chmp2a |
T |
C |
7: 13,033,831 (GRCm38) |
M56V |
probably benign |
Het |
| Cilp |
A |
C |
9: 65,280,233 (GRCm38) |
R1203S |
probably benign |
Het |
| Clp1 |
T |
A |
2: 84,725,978 (GRCm38) |
K53* |
probably null |
Het |
| Crhbp |
T |
A |
13: 95,442,229 (GRCm38) |
D128V |
probably damaging |
Het |
| Crispld1 |
T |
A |
1: 17,750,271 (GRCm38) |
I292N |
probably benign |
Het |
| Cyp2c68 |
A |
T |
19: 39,689,082 (GRCm38) |
I488N |
probably benign |
Het |
| Cyp3a57 |
A |
T |
5: 145,370,646 (GRCm38) |
M149L |
probably benign |
Het |
| Ddx24 |
T |
A |
12: 103,424,288 (GRCm38) |
Q59L |
possibly damaging |
Het |
| Ddx27 |
A |
G |
2: 167,029,519 (GRCm38) |
H512R |
possibly damaging |
Het |
| Ddx58 |
T |
A |
4: 40,222,140 (GRCm38) |
M380L |
probably benign |
Het |
| Dlgap4 |
T |
A |
2: 156,762,901 (GRCm38) |
*993K |
probably null |
Het |
| Dmxl2 |
A |
T |
9: 54,423,359 (GRCm38) |
|
probably null |
Het |
| Dus4l |
A |
T |
12: 31,646,713 (GRCm38) |
F88L |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,756,205 (GRCm38) |
V176E |
probably damaging |
Het |
| Fam71e1 |
T |
G |
7: 44,501,004 (GRCm38) |
S207A |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 16,376,923 (GRCm38) |
K435* |
probably null |
Het |
| Fsip2 |
T |
C |
2: 82,986,564 (GRCm38) |
C4214R |
probably benign |
Het |
| Gfral |
T |
C |
9: 76,164,805 (GRCm38) |
*394W |
probably null |
Het |
| Glis1 |
T |
C |
4: 107,619,635 (GRCm38) |
S518P |
probably damaging |
Het |
| H2-T10 |
A |
G |
17: 36,119,187 (GRCm38) |
|
probably null |
Het |
| Hsbp1l1 |
T |
C |
18: 80,235,464 (GRCm38) |
T35A |
possibly damaging |
Het |
| Ighv5-12 |
A |
G |
12: 113,702,217 (GRCm38) |
F87S |
probably damaging |
Het |
| Ints13 |
A |
C |
6: 146,576,357 (GRCm38) |
D31E |
probably damaging |
Het |
| Kbtbd12 |
C |
T |
6: 88,618,627 (GRCm38) |
D74N |
probably damaging |
Het |
| Klrb1c |
A |
G |
6: 128,788,914 (GRCm38) |
|
probably benign |
Het |
| Kmt5b |
A |
T |
19: 3,786,538 (GRCm38) |
H25L |
probably benign |
Het |
| Krt28 |
A |
T |
11: 99,371,384 (GRCm38) |
M260K |
probably damaging |
Het |
| Krt79 |
A |
G |
15: 101,929,785 (GRCm38) |
S512P |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 67,768,298 (GRCm38) |
|
probably null |
Het |
| Maneal |
T |
C |
4: 124,857,144 (GRCm38) |
E273G |
possibly damaging |
Het |
| Map4k3 |
T |
A |
17: 80,663,998 (GRCm38) |
Y80F |
possibly damaging |
Het |
| Mbd6 |
A |
G |
10: 127,283,428 (GRCm38) |
V946A |
possibly damaging |
Het |
| Mfsd14b |
A |
T |
13: 65,072,122 (GRCm38) |
|
probably null |
Het |
| Mrpl46 |
C |
G |
7: 78,780,494 (GRCm38) |
W176S |
probably damaging |
Het |
| Muc19 |
A |
G |
15: 91,884,274 (GRCm38) |
|
noncoding transcript |
Het |
| Mup3 |
T |
G |
4: 62,084,572 (GRCm38) |
E184A |
possibly damaging |
Het |
| Myo9a |
A |
G |
9: 59,874,628 (GRCm38) |
H1699R |
probably benign |
Het |
| Ndrg2 |
T |
A |
14: 51,906,963 (GRCm38) |
T269S |
probably damaging |
Het |
| Nfatc1 |
A |
T |
18: 80,649,822 (GRCm38) |
V688D |
probably benign |
Het |
| Ninj2 |
T |
C |
6: 120,198,709 (GRCm38) |
I101T |
probably benign |
Het |
| Nlrp10 |
T |
A |
7: 108,924,261 (GRCm38) |
M671L |
probably benign |
Het |
| Npsr1 |
T |
A |
9: 24,313,214 (GRCm38) |
L296I |
probably damaging |
Het |
| Olfr582 |
G |
T |
7: 103,042,310 (GRCm38) |
R272L |
possibly damaging |
Het |
| Olfr975 |
A |
G |
9: 39,950,687 (GRCm38) |
L28P |
probably benign |
Het |
| Pacsin1 |
T |
A |
17: 27,708,048 (GRCm38) |
D242E |
probably damaging |
Het |
| Pcdh1 |
T |
C |
18: 38,197,367 (GRCm38) |
Y861C |
probably damaging |
Het |
| Pcdha12 |
T |
C |
18: 37,020,390 (GRCm38) |
L54P |
probably damaging |
Het |
| Pcdhb18 |
T |
A |
18: 37,491,800 (GRCm38) |
S728T |
probably benign |
Het |
| Phyhd1 |
T |
A |
2: 30,277,010 (GRCm38) |
H108Q |
probably damaging |
Het |
| Plcb1 |
A |
T |
2: 135,370,593 (GRCm38) |
I1035F |
probably damaging |
Het |
| Plcl1 |
T |
C |
1: 55,696,150 (GRCm38) |
S217P |
possibly damaging |
Het |
| Plppr2 |
G |
A |
9: 21,941,129 (GRCm38) |
R103H |
probably damaging |
Het |
| Plxnb2 |
G |
A |
15: 89,157,435 (GRCm38) |
T1722I |
probably damaging |
Het |
| Pole3 |
T |
C |
4: 62,524,431 (GRCm38) |
N53S |
probably damaging |
Het |
| Ptk6 |
A |
T |
2: 181,199,695 (GRCm38) |
N140K |
possibly damaging |
Het |
| Rab12 |
C |
T |
17: 66,497,423 (GRCm38) |
R180H |
probably damaging |
Het |
| Rab36 |
G |
T |
10: 75,052,479 (GRCm38) |
V252L |
probably benign |
Het |
| Ranbp3 |
T |
C |
17: 56,701,543 (GRCm38) |
|
probably null |
Het |
| Rapgef2 |
A |
G |
3: 79,104,001 (GRCm38) |
L259P |
probably damaging |
Het |
| Scaf4 |
GGCTGCTGCTGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTGCTGCTGCTG |
16: 90,229,857 (GRCm38) |
|
probably benign |
Het |
| Scd2 |
T |
C |
19: 44,299,703 (GRCm38) |
F178S |
probably damaging |
Het |
| Shmt2 |
A |
G |
10: 127,520,381 (GRCm38) |
S87P |
probably damaging |
Het |
| Slf1 |
T |
A |
13: 77,046,704 (GRCm38) |
D834V |
probably damaging |
Het |
| Sorcs2 |
A |
C |
5: 36,046,530 (GRCm38) |
Y540* |
probably null |
Het |
| Srpk2 |
T |
A |
5: 23,525,699 (GRCm38) |
Q274L |
possibly damaging |
Het |
| Stradb |
T |
A |
1: 58,992,742 (GRCm38) |
M271K |
possibly damaging |
Het |
| Tfec |
T |
A |
6: 16,867,593 (GRCm38) |
Q16L |
possibly damaging |
Het |
| Tfg |
T |
C |
16: 56,701,087 (GRCm38) |
T63A |
probably benign |
Het |
| Ticrr |
G |
A |
7: 79,689,967 (GRCm38) |
|
probably null |
Het |
| Ticrr |
T |
A |
7: 79,695,296 (GRCm38) |
C1636* |
probably null |
Het |
| Tln2 |
A |
G |
9: 67,311,865 (GRCm38) |
I266T |
probably damaging |
Het |
| Tmcc1 |
G |
C |
6: 116,022,110 (GRCm38) |
R323G |
possibly damaging |
Het |
| Tnnt3 |
A |
G |
7: 142,512,040 (GRCm38) |
E138G |
probably damaging |
Het |
| Tpm2 |
C |
A |
4: 43,522,692 (GRCm38) |
E75* |
probably null |
Het |
| Ttn |
T |
G |
2: 76,750,578 (GRCm38) |
T23324P |
probably damaging |
Het |
| Ubr4 |
T |
G |
4: 139,392,038 (GRCm38) |
L176R |
probably damaging |
Het |
| Uhrf2 |
G |
T |
19: 30,039,088 (GRCm38) |
D46Y |
probably damaging |
Het |
| Ulbp1 |
A |
C |
10: 7,473,281 (GRCm38) |
S21A |
unknown |
Het |
| Usp17lb |
C |
T |
7: 104,841,208 (GRCm38) |
G170R |
probably damaging |
Het |
| Utp15 |
T |
C |
13: 98,257,925 (GRCm38) |
N153S |
probably benign |
Het |
| Vcan |
T |
A |
13: 89,688,671 (GRCm38) |
E2918V |
probably damaging |
Het |
| Vmn1r174 |
T |
A |
7: 23,754,494 (GRCm38) |
I195K |
probably damaging |
Het |
| Vmn1r76 |
C |
T |
7: 11,931,135 (GRCm38) |
V16I |
probably benign |
Het |
| Xdh |
T |
C |
17: 73,943,885 (GRCm38) |
D24G |
possibly damaging |
Het |
| Xylb |
T |
A |
9: 119,361,132 (GRCm38) |
H68Q |
probably benign |
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 |
|
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'- TTGGAGCATGCACTCTCACC -3'
(R):5'- GCCCGTGTCTCTAATATAGTCAC -3'
Sequencing Primer
(F):5'- ATGCACTCTCACCTCCCAC -3'
(R):5'- CGTGTCTCTAATATAGTCACCAGTTC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation