Incidental Mutation 'R6285:Evc2'
ID |
508164 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Evc2
|
Ensembl Gene |
ENSMUSG00000050248 |
Gene Name |
EvC ciliary complex subunit 2 |
Synonyms |
Ellis van Creveld syndrome 2, Lbn, limbin |
MMRRC Submission |
044455-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6285 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
37495843-37582399 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 37581923 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Isoleucine
at position 1189
(S1189I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055130
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056365]
|
AlphaFold |
Q8K1G2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056365
AA Change: S1189I
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000055130 Gene: ENSMUSG00000050248 AA Change: S1189I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
low complexity region
|
40 |
59 |
N/A |
INTRINSIC |
Pfam:EVC2_like
|
147 |
570 |
2.1e-191 |
PFAM |
low complexity region
|
576 |
600 |
N/A |
INTRINSIC |
coiled coil region
|
617 |
644 |
N/A |
INTRINSIC |
low complexity region
|
780 |
791 |
N/A |
INTRINSIC |
low complexity region
|
902 |
914 |
N/A |
INTRINSIC |
coiled coil region
|
922 |
956 |
N/A |
INTRINSIC |
low complexity region
|
1057 |
1071 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.8%
- 20x: 96.9%
|
Validation Efficiency |
100% (68/68) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] PHENOTYPE: Mice homozygous for a knock-out allele exhibit perinatal lethality, short limbs and ribs, decreased osteoblast differentiation and abnormal chondrocyte physiology. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad9 |
A |
T |
3: 36,136,324 (GRCm39) |
M370L |
probably benign |
Het |
Aimp1 |
A |
G |
3: 132,373,265 (GRCm39) |
M225T |
possibly damaging |
Het |
Atp8a1 |
T |
C |
5: 67,824,950 (GRCm39) |
I809V |
possibly damaging |
Het |
Bbs10 |
A |
G |
10: 111,135,622 (GRCm39) |
Y245C |
probably damaging |
Het |
Cabin1 |
A |
T |
10: 75,520,157 (GRCm39) |
F1572Y |
probably damaging |
Het |
Cd79a |
A |
G |
7: 24,598,772 (GRCm39) |
N107S |
possibly damaging |
Het |
Cdc7 |
G |
A |
5: 107,130,925 (GRCm39) |
A428T |
probably benign |
Het |
Cep290 |
A |
G |
10: 100,359,191 (GRCm39) |
T974A |
probably benign |
Het |
Cep350 |
A |
T |
1: 155,829,120 (GRCm39) |
N261K |
possibly damaging |
Het |
Cfap46 |
T |
A |
7: 139,241,001 (GRCm39) |
D8V |
probably damaging |
Het |
Col6a4 |
T |
C |
9: 105,952,185 (GRCm39) |
D571G |
probably damaging |
Het |
Cpe |
A |
C |
8: 65,070,645 (GRCm39) |
V200G |
probably benign |
Het |
Ctnnd1 |
C |
T |
2: 84,444,231 (GRCm39) |
|
probably null |
Het |
D5Ertd579e |
A |
C |
5: 36,772,921 (GRCm39) |
C491W |
probably damaging |
Het |
Dek |
A |
G |
13: 47,252,856 (GRCm39) |
I183T |
probably damaging |
Het |
Dennd1a |
A |
T |
2: 37,742,453 (GRCm39) |
H437Q |
possibly damaging |
Het |
Dido1 |
C |
T |
2: 180,302,940 (GRCm39) |
A1655T |
probably benign |
Het |
Eva1b |
A |
G |
4: 126,043,278 (GRCm39) |
D106G |
probably damaging |
Het |
Faap100 |
A |
T |
11: 120,267,558 (GRCm39) |
L405Q |
probably damaging |
Het |
Fbxw15 |
T |
A |
9: 109,386,234 (GRCm39) |
M249L |
probably benign |
Het |
Gbp10 |
A |
T |
5: 105,366,326 (GRCm39) |
L526Q |
probably damaging |
Het |
Gm19402 |
A |
C |
10: 77,526,354 (GRCm39) |
|
probably benign |
Het |
Gm2244 |
A |
G |
14: 19,590,865 (GRCm39) |
Y141H |
probably damaging |
Het |
Gm4181 |
A |
T |
14: 51,870,666 (GRCm39) |
N98K |
probably damaging |
Het |
Golga4 |
C |
T |
9: 118,387,695 (GRCm39) |
R616* |
probably null |
Het |
Gpank1 |
T |
A |
17: 35,343,266 (GRCm39) |
S226T |
probably damaging |
Het |
Hipk3 |
T |
C |
2: 104,301,770 (GRCm39) |
M141V |
probably damaging |
Het |
Hoxc11 |
T |
C |
15: 102,863,178 (GRCm39) |
V73A |
probably benign |
Het |
Igf1r |
T |
G |
7: 67,653,885 (GRCm39) |
I141S |
possibly damaging |
Het |
Jak2 |
T |
A |
19: 29,273,059 (GRCm39) |
F628I |
probably benign |
Het |
Kcp |
C |
A |
6: 29,502,364 (GRCm39) |
V227L |
probably benign |
Het |
Knl1 |
T |
G |
2: 118,902,422 (GRCm39) |
C1374W |
probably damaging |
Het |
Larp6 |
A |
T |
9: 60,645,043 (GRCm39) |
R394S |
probably benign |
Het |
Lilra5 |
G |
A |
7: 4,245,114 (GRCm39) |
G253R |
probably damaging |
Het |
Map3k4 |
A |
G |
17: 12,482,945 (GRCm39) |
S591P |
probably damaging |
Het |
Mdfic2 |
T |
C |
6: 98,215,134 (GRCm39) |
D163G |
probably damaging |
Het |
Minar2 |
A |
G |
18: 59,205,296 (GRCm39) |
K28R |
probably benign |
Het |
Mrpl16 |
T |
A |
19: 11,750,332 (GRCm39) |
I72K |
probably damaging |
Het |
Nol11 |
C |
G |
11: 107,071,860 (GRCm39) |
R244S |
probably benign |
Het |
Nr2f1 |
T |
C |
13: 78,343,782 (GRCm39) |
T161A |
probably benign |
Het |
Nrdc |
G |
T |
4: 108,895,203 (GRCm39) |
V476F |
probably damaging |
Het |
Or10j7 |
G |
T |
1: 173,011,477 (GRCm39) |
H175N |
probably damaging |
Het |
Or10z1 |
A |
T |
1: 174,078,395 (GRCm39) |
S33T |
possibly damaging |
Het |
Or13a22 |
T |
A |
7: 140,072,626 (GRCm39) |
L25Q |
possibly damaging |
Het |
Or13m2-ps1 |
A |
T |
6: 42,777,843 (GRCm39) |
H56L |
probably benign |
Het |
P2rx1 |
A |
G |
11: 72,898,974 (GRCm39) |
I62V |
probably benign |
Het |
Pcdhgc5 |
A |
T |
18: 37,953,674 (GRCm39) |
Y316F |
probably benign |
Het |
Pecam1 |
T |
C |
11: 106,576,065 (GRCm39) |
D490G |
probably benign |
Het |
Pfkfb2 |
A |
T |
1: 130,635,299 (GRCm39) |
Y87* |
probably null |
Het |
Poldip2 |
A |
G |
11: 78,408,458 (GRCm39) |
|
probably null |
Het |
Ppp2r5b |
T |
A |
19: 6,280,566 (GRCm39) |
Q304L |
probably benign |
Het |
Pramel26 |
A |
G |
4: 143,542,609 (GRCm39) |
C4R |
probably damaging |
Het |
Psg26 |
A |
G |
7: 18,216,753 (GRCm39) |
F29L |
probably benign |
Het |
Ptk6 |
A |
T |
2: 180,838,886 (GRCm39) |
L289Q |
probably null |
Het |
Ptprt |
A |
T |
2: 161,743,417 (GRCm39) |
I508N |
possibly damaging |
Het |
Rasgrp4 |
T |
C |
7: 28,847,808 (GRCm39) |
F406S |
probably damaging |
Het |
Rspo3 |
A |
G |
10: 29,375,926 (GRCm39) |
|
probably null |
Het |
Septin8 |
G |
T |
11: 53,425,594 (GRCm39) |
|
probably null |
Het |
Sirt2 |
A |
C |
7: 28,487,471 (GRCm39) |
T345P |
probably benign |
Het |
Slc6a20b |
T |
C |
9: 123,438,161 (GRCm39) |
E205G |
possibly damaging |
Het |
Sqstm1 |
G |
A |
11: 50,093,418 (GRCm39) |
Q327* |
probably null |
Het |
Susd3 |
T |
A |
13: 49,390,997 (GRCm39) |
S98C |
probably damaging |
Het |
Tada2b |
G |
A |
5: 36,634,186 (GRCm39) |
R56W |
probably damaging |
Het |
Tbc1d2 |
A |
T |
4: 46,615,045 (GRCm39) |
V546E |
possibly damaging |
Het |
Tbx6 |
A |
G |
7: 126,380,740 (GRCm39) |
Q21R |
possibly damaging |
Het |
Usp24 |
T |
G |
4: 106,231,297 (GRCm39) |
|
probably null |
Het |
Vinac1 |
T |
G |
2: 128,879,719 (GRCm39) |
T736P |
possibly damaging |
Het |
Vmn2r103 |
A |
G |
17: 20,032,406 (GRCm39) |
T727A |
probably benign |
Het |
Wdr48 |
C |
T |
9: 119,749,676 (GRCm39) |
T531M |
probably damaging |
Het |
|
Other mutations in Evc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00663:Evc2
|
APN |
5 |
37,579,235 (GRCm39) |
missense |
probably benign |
0.26 |
IGL01294:Evc2
|
APN |
5 |
37,504,854 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01547:Evc2
|
APN |
5 |
37,550,431 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02233:Evc2
|
APN |
5 |
37,535,681 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02253:Evc2
|
APN |
5 |
37,535,771 (GRCm39) |
splice site |
probably benign |
|
IGL02993:Evc2
|
APN |
5 |
37,576,501 (GRCm39) |
missense |
probably benign |
0.01 |
R0010:Evc2
|
UTSW |
5 |
37,574,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R0010:Evc2
|
UTSW |
5 |
37,574,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R0324:Evc2
|
UTSW |
5 |
37,550,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R0441:Evc2
|
UTSW |
5 |
37,574,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R0454:Evc2
|
UTSW |
5 |
37,574,828 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1291:Evc2
|
UTSW |
5 |
37,544,159 (GRCm39) |
missense |
probably damaging |
1.00 |
R1433:Evc2
|
UTSW |
5 |
37,550,427 (GRCm39) |
missense |
probably damaging |
1.00 |
R1485:Evc2
|
UTSW |
5 |
37,527,900 (GRCm39) |
missense |
probably benign |
0.30 |
R1491:Evc2
|
UTSW |
5 |
37,550,541 (GRCm39) |
critical splice donor site |
probably null |
|
R1502:Evc2
|
UTSW |
5 |
37,550,440 (GRCm39) |
missense |
probably benign |
|
R1662:Evc2
|
UTSW |
5 |
37,506,094 (GRCm39) |
missense |
probably benign |
0.00 |
R1891:Evc2
|
UTSW |
5 |
37,549,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R1965:Evc2
|
UTSW |
5 |
37,520,876 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1983:Evc2
|
UTSW |
5 |
37,573,275 (GRCm39) |
nonsense |
probably null |
|
R2160:Evc2
|
UTSW |
5 |
37,537,862 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2237:Evc2
|
UTSW |
5 |
37,535,527 (GRCm39) |
missense |
probably benign |
0.22 |
R3926:Evc2
|
UTSW |
5 |
37,540,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R3953:Evc2
|
UTSW |
5 |
37,537,931 (GRCm39) |
critical splice donor site |
probably null |
|
R3959:Evc2
|
UTSW |
5 |
37,573,120 (GRCm39) |
missense |
possibly damaging |
0.63 |
R4281:Evc2
|
UTSW |
5 |
37,495,938 (GRCm39) |
missense |
probably benign |
0.33 |
R4366:Evc2
|
UTSW |
5 |
37,496,013 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4707:Evc2
|
UTSW |
5 |
37,579,204 (GRCm39) |
missense |
probably benign |
0.08 |
R4754:Evc2
|
UTSW |
5 |
37,544,375 (GRCm39) |
missense |
probably damaging |
0.99 |
R5373:Evc2
|
UTSW |
5 |
37,535,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R5593:Evc2
|
UTSW |
5 |
37,544,321 (GRCm39) |
missense |
probably damaging |
0.99 |
R5697:Evc2
|
UTSW |
5 |
37,527,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R5847:Evc2
|
UTSW |
5 |
37,562,068 (GRCm39) |
intron |
probably benign |
|
R5874:Evc2
|
UTSW |
5 |
37,574,883 (GRCm39) |
intron |
probably benign |
|
R6023:Evc2
|
UTSW |
5 |
37,505,960 (GRCm39) |
missense |
probably benign |
0.13 |
R6394:Evc2
|
UTSW |
5 |
37,535,619 (GRCm39) |
missense |
probably damaging |
1.00 |
R6567:Evc2
|
UTSW |
5 |
37,576,508 (GRCm39) |
missense |
probably benign |
0.17 |
R6669:Evc2
|
UTSW |
5 |
37,535,722 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7039:Evc2
|
UTSW |
5 |
37,579,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R7131:Evc2
|
UTSW |
5 |
37,567,602 (GRCm39) |
missense |
probably damaging |
1.00 |
R7144:Evc2
|
UTSW |
5 |
37,544,183 (GRCm39) |
missense |
probably damaging |
0.97 |
R7372:Evc2
|
UTSW |
5 |
37,544,477 (GRCm39) |
missense |
probably damaging |
0.98 |
R7376:Evc2
|
UTSW |
5 |
37,527,983 (GRCm39) |
missense |
possibly damaging |
0.57 |
R7607:Evc2
|
UTSW |
5 |
37,544,200 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7915:Evc2
|
UTSW |
5 |
37,544,206 (GRCm39) |
missense |
probably damaging |
0.98 |
R8144:Evc2
|
UTSW |
5 |
37,537,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R8506:Evc2
|
UTSW |
5 |
37,540,486 (GRCm39) |
missense |
probably damaging |
1.00 |
R9097:Evc2
|
UTSW |
5 |
37,550,505 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9151:Evc2
|
UTSW |
5 |
37,504,823 (GRCm39) |
missense |
probably benign |
0.00 |
R9261:Evc2
|
UTSW |
5 |
37,537,895 (GRCm39) |
missense |
probably benign |
0.00 |
R9612:Evc2
|
UTSW |
5 |
37,544,130 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAATCGGCCCAGAATGCAG -3'
(R):5'- TATGATATAGACGGACAGACCAACC -3'
Sequencing Primer
(F):5'- TCTCTCTGCAGCATATTGAAGAAG -3'
(R):5'- GGACAGACCAACCCACGTG -3'
|
Posted On |
2018-03-15 |