Incidental Mutation 'R7366:Cc2d2a'
| ID |
571788 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cc2d2a
|
| Ensembl Gene |
ENSMUSG00000039765 |
| Gene Name |
coiled-coil and C2 domain containing 2A |
| Synonyms |
b2b1035Clo, 5730509K17Rik |
| MMRRC Submission |
045450-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.906)
|
| Stock # |
R7366 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
43819715-43898317 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 43887332 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 1315
(R1315L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048150]
[ENSMUST00000125866]
|
| AlphaFold |
Q8CFW7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048150
AA Change: R1315L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765
AA Change: R1315L
| 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: R1254L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765
AA Change: R1254L
| 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: 99.8%
- 20x: 99.1%
|
| Validation Efficiency |
99% (94/95) |
| 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 |
|---|
| 1700030K09Rik |
C |
T |
8: 73,203,303 (GRCm39) |
P244S |
possibly damaging |
Het |
| 4930562C15Rik |
A |
G |
16: 4,653,633 (GRCm39) |
I61V |
unknown |
Het |
| Abcb11 |
C |
T |
2: 69,130,211 (GRCm39) |
D282N |
probably damaging |
Het |
| Acbd3 |
A |
G |
1: 180,562,064 (GRCm39) |
E181G |
probably benign |
Het |
| Ano3 |
T |
C |
2: 110,587,412 (GRCm39) |
Y43C |
probably damaging |
Het |
| Aspa |
T |
A |
11: 73,210,716 (GRCm39) |
|
probably null |
Het |
| AU018091 |
A |
T |
7: 3,206,170 (GRCm39) |
N620K |
probably damaging |
Het |
| Bicc1 |
G |
T |
10: 70,779,216 (GRCm39) |
T724K |
probably benign |
Het |
| Bmper |
T |
C |
9: 23,395,300 (GRCm39) |
I677T |
probably damaging |
Het |
| C3 |
T |
A |
17: 57,528,162 (GRCm39) |
T686S |
probably benign |
Het |
| Ccdc150 |
G |
T |
1: 54,339,541 (GRCm39) |
E462* |
probably null |
Het |
| Ccdc88c |
C |
A |
12: 100,911,209 (GRCm39) |
R875L |
possibly damaging |
Het |
| Cd177 |
C |
T |
7: 24,456,147 (GRCm39) |
G207D |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,151,471 (GRCm39) |
Y2471* |
probably null |
Het |
| Cep89 |
G |
A |
7: 35,129,353 (GRCm39) |
R630H |
probably damaging |
Het |
| Cmbl |
A |
T |
15: 31,590,002 (GRCm39) |
Y244F |
probably benign |
Het |
| Dcaf10 |
T |
C |
4: 45,373,919 (GRCm39) |
V448A |
probably damaging |
Het |
| Ddr2 |
A |
G |
1: 169,825,533 (GRCm39) |
W356R |
probably damaging |
Het |
| Depdc1a |
A |
G |
3: 159,228,849 (GRCm39) |
I534V |
probably benign |
Het |
| Dhtkd1 |
T |
A |
2: 5,922,717 (GRCm39) |
I481L |
probably benign |
Het |
| Dlst |
A |
T |
12: 85,175,089 (GRCm39) |
I260L |
probably benign |
Het |
| Dnajc13 |
T |
G |
9: 104,061,905 (GRCm39) |
K1350Q |
probably benign |
Het |
| Dpp4 |
T |
C |
2: 62,184,943 (GRCm39) |
Y520C |
probably damaging |
Het |
| Dr1 |
C |
A |
5: 108,423,594 (GRCm39) |
A127E |
unknown |
Het |
| Dsel |
C |
T |
1: 111,789,303 (GRCm39) |
G411S |
probably damaging |
Het |
| E130308A19Rik |
T |
C |
4: 59,752,770 (GRCm39) |
C628R |
probably damaging |
Het |
| Edem3 |
T |
A |
1: 151,688,365 (GRCm39) |
|
probably null |
Het |
| Efcab15 |
T |
C |
11: 103,098,944 (GRCm39) |
|
probably null |
Het |
| Fam20a |
T |
A |
11: 109,564,168 (GRCm39) |
Q528H |
possibly damaging |
Het |
| Fanca |
T |
C |
8: 124,007,952 (GRCm39) |
E981G |
probably benign |
Het |
| Fbp2 |
A |
G |
13: 62,985,012 (GRCm39) |
V303A |
possibly damaging |
Het |
| Flii |
C |
T |
11: 60,611,945 (GRCm39) |
V353M |
possibly damaging |
Het |
| Gm10277 |
T |
A |
11: 77,676,584 (GRCm39) |
Y129F |
unknown |
Het |
| Gm3159 |
A |
T |
14: 4,398,525 (GRCm38) |
H72L |
probably benign |
Het |
| Gm5114 |
T |
G |
7: 39,058,768 (GRCm39) |
T284P |
possibly damaging |
Het |
| Gm7168 |
T |
C |
17: 14,170,147 (GRCm39) |
S505P |
probably damaging |
Het |
| Gnal |
T |
C |
18: 67,344,142 (GRCm39) |
V239A |
possibly damaging |
Het |
| Gtf2i |
C |
T |
5: 134,294,603 (GRCm39) |
E370K |
probably damaging |
Het |
| Hivep3 |
CGG |
CG |
4: 119,955,108 (GRCm39) |
1141 |
probably null |
Het |
| Il3 |
T |
A |
11: 54,156,709 (GRCm39) |
R93S |
probably benign |
Het |
| Itsn1 |
A |
G |
16: 91,705,338 (GRCm39) |
E1573G |
unknown |
Het |
| Kif26a |
G |
A |
12: 112,129,976 (GRCm39) |
|
probably null |
Het |
| Klb |
T |
C |
5: 65,529,774 (GRCm39) |
M434T |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,314,150 (GRCm39) |
R2194W |
probably damaging |
Het |
| Lrp6 |
G |
T |
6: 134,427,781 (GRCm39) |
P1604T |
probably damaging |
Het |
| Mak16 |
A |
G |
8: 31,656,127 (GRCm39) |
Y119H |
possibly damaging |
Het |
| Map3k19 |
T |
A |
1: 127,745,192 (GRCm39) |
M1421L |
probably damaging |
Het |
| Mbd5 |
A |
G |
2: 49,164,580 (GRCm39) |
I1186V |
probably benign |
Het |
| Mboat1 |
T |
A |
13: 30,386,345 (GRCm39) |
C120S |
possibly damaging |
Het |
| Mctp2 |
T |
A |
7: 71,908,962 (GRCm39) |
D117V |
probably benign |
Het |
| Mocos |
C |
A |
18: 24,809,673 (GRCm39) |
N425K |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,203,951 (GRCm39) |
|
probably null |
Het |
| Ngfr |
A |
T |
11: 95,465,255 (GRCm39) |
W198R |
possibly damaging |
Het |
| Nr4a3 |
T |
G |
4: 48,051,290 (GRCm39) |
S15A |
possibly damaging |
Het |
| Obsl1 |
T |
C |
1: 75,479,608 (GRCm39) |
S596G |
probably damaging |
Het |
| Or2ag1 |
G |
T |
7: 106,472,603 (GRCm39) |
P283Q |
probably damaging |
Het |
| Or51g1 |
A |
T |
7: 102,633,723 (GRCm39) |
I216K |
probably damaging |
Het |
| Or52e3 |
T |
G |
7: 102,869,740 (GRCm39) |
Y272D |
probably benign |
Het |
| Or5v1b |
T |
A |
17: 37,841,708 (GRCm39) |
V280D |
probably damaging |
Het |
| Or6b3 |
A |
G |
1: 92,439,400 (GRCm39) |
S117P |
possibly damaging |
Het |
| Pithd1 |
T |
C |
4: 135,714,361 (GRCm39) |
Y29C |
probably benign |
Het |
| Plcb3 |
T |
C |
19: 6,939,389 (GRCm39) |
T530A |
probably benign |
Het |
| Prss40 |
A |
T |
1: 34,598,952 (GRCm39) |
Y70* |
probably null |
Het |
| Ralgps1 |
T |
C |
2: 33,214,700 (GRCm39) |
M61V |
possibly damaging |
Het |
| Rbp4 |
C |
T |
19: 38,113,410 (GRCm39) |
R36H |
possibly damaging |
Het |
| Rnf125 |
A |
G |
18: 21,107,490 (GRCm39) |
N7S |
not run |
Het |
| Rpe65 |
G |
A |
3: 159,330,366 (GRCm39) |
S511N |
probably benign |
Het |
| Rspo4 |
A |
T |
2: 151,709,793 (GRCm39) |
Y66F |
probably damaging |
Het |
| Ruvbl2 |
A |
G |
7: 45,071,573 (GRCm39) |
S437P |
probably benign |
Het |
| Sele |
C |
A |
1: 163,876,288 (GRCm39) |
R12S |
probably benign |
Het |
| Sgo2b |
T |
A |
8: 64,391,451 (GRCm39) |
K139* |
probably null |
Het |
| Shroom3 |
C |
A |
5: 93,112,465 (GRCm39) |
S1942* |
probably null |
Het |
| Slc12a9 |
G |
A |
5: 137,326,885 (GRCm39) |
R191* |
probably null |
Het |
| Spag9 |
G |
T |
11: 93,999,347 (GRCm39) |
V1088L |
possibly damaging |
Het |
| Sptb |
T |
G |
12: 76,650,968 (GRCm39) |
D1669A |
probably damaging |
Het |
| Sptlc2 |
A |
G |
12: 87,360,823 (GRCm39) |
|
probably null |
Het |
| Sult2a8 |
A |
T |
7: 14,150,254 (GRCm39) |
|
probably null |
Het |
| Synpo2 |
A |
G |
3: 122,907,690 (GRCm39) |
V542A |
probably damaging |
Het |
| Tecpr2 |
T |
C |
12: 110,881,914 (GRCm39) |
|
probably null |
Het |
| Tektip1 |
T |
C |
10: 81,200,025 (GRCm39) |
D165G |
possibly damaging |
Het |
| Tenm2 |
T |
C |
11: 35,960,241 (GRCm39) |
T1029A |
probably benign |
Het |
| Tgoln1 |
G |
C |
6: 72,593,261 (GRCm39) |
T73R |
probably benign |
Het |
| Tnfaip8l1 |
C |
A |
17: 56,478,897 (GRCm39) |
N62K |
probably damaging |
Het |
| Tollip |
A |
G |
7: 141,443,334 (GRCm39) |
S174P |
probably benign |
Het |
| Trp53tg5 |
A |
G |
2: 164,313,027 (GRCm39) |
I216T |
possibly damaging |
Het |
| Tssk5 |
A |
G |
15: 76,258,713 (GRCm39) |
S58P |
probably benign |
Het |
| Ttc9b |
T |
C |
7: 27,354,384 (GRCm39) |
Y157H |
probably damaging |
Het |
| Tuba8 |
A |
G |
6: 121,199,871 (GRCm39) |
Y185C |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,266,771 (GRCm39) |
A1127T |
probably damaging |
Het |
| Urb1 |
CACTTAC |
CAC |
16: 90,569,461 (GRCm39) |
|
probably benign |
Het |
| Yipf3 |
T |
A |
17: 46,559,855 (GRCm39) |
L57Q |
possibly damaging |
Het |
| Zbtb32 |
A |
C |
7: 30,289,606 (GRCm39) |
C19G |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,602,979 (GRCm39) |
H641L |
possibly damaging |
Het |
| Zfyve28 |
A |
T |
5: 34,389,571 (GRCm39) |
Y210N |
probably damaging |
Het |
| Zpr1 |
T |
A |
9: 46,184,671 (GRCm39) |
|
probably null |
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 |
|
R1794:Cc2d2a
|
UTSW |
5 |
43,845,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GTCTCCTGTAATCATATACATCCCATG -3'
(R):5'- AGAAGTCCTCATTGCAGTAAAACAG -3'
Sequencing Primer
(F):5'- TCCCATGTATTTCTTTTTGAAGTTTG -3'
(R):5'- GCAGTAAAACAGTTTGACTCCTTCC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation