Incidental Mutation 'R6023:Evc2'
ID |
479029 |
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 |
044195-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6023 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
37495843-37582399 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 37505960 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 93
(M93K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055130
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056365]
|
AlphaFold |
Q8K1G2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000056365
AA Change: M93K
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000055130 Gene: ENSMUSG00000050248 AA Change: M93K
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000101258
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
Validation Efficiency |
100% (51/51) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
T |
C |
7: 45,757,843 (GRCm39) |
N1302S |
possibly damaging |
Het |
Aff3 |
A |
T |
1: 38,257,451 (GRCm39) |
S424T |
probably damaging |
Het |
Ap2b1 |
C |
T |
11: 83,226,224 (GRCm39) |
T207M |
probably damaging |
Het |
Appl2 |
T |
C |
10: 83,484,393 (GRCm39) |
Q18R |
probably null |
Het |
Atrn |
T |
C |
2: 130,862,900 (GRCm39) |
F1327L |
probably benign |
Het |
Birc6 |
A |
T |
17: 74,961,372 (GRCm39) |
I47F |
probably benign |
Het |
Cdh23 |
A |
T |
10: 60,301,321 (GRCm39) |
I451N |
probably damaging |
Het |
Clec3a |
A |
G |
8: 115,144,883 (GRCm39) |
T20A |
possibly damaging |
Het |
Cpz |
T |
A |
5: 35,669,922 (GRCm39) |
I252F |
probably benign |
Het |
Ctc1 |
A |
G |
11: 68,913,433 (GRCm39) |
D143G |
probably benign |
Het |
Dhrs1 |
A |
T |
14: 55,981,127 (GRCm39) |
Y94* |
probably null |
Het |
Dnajc25 |
A |
G |
4: 59,013,752 (GRCm39) |
K157E |
possibly damaging |
Het |
Dpp6 |
T |
C |
5: 27,928,545 (GRCm39) |
I789T |
probably damaging |
Het |
Duox1 |
T |
G |
2: 122,168,165 (GRCm39) |
F1097V |
probably benign |
Het |
Ercc8 |
A |
G |
13: 108,315,111 (GRCm39) |
T242A |
probably damaging |
Het |
Glra1 |
A |
T |
11: 55,424,679 (GRCm39) |
V94E |
probably damaging |
Het |
Got1l1 |
A |
T |
8: 27,689,932 (GRCm39) |
Y151* |
probably null |
Het |
Hcrtr2 |
T |
A |
9: 76,137,886 (GRCm39) |
I410F |
probably benign |
Het |
Ighv1-72 |
T |
A |
12: 115,721,532 (GRCm39) |
|
probably benign |
Het |
Kel |
C |
A |
6: 41,674,409 (GRCm39) |
E340D |
probably benign |
Het |
Kif11 |
A |
G |
19: 37,379,158 (GRCm39) |
E283G |
probably damaging |
Het |
Klk4 |
T |
G |
7: 43,533,482 (GRCm39) |
F114V |
probably benign |
Het |
Krt7 |
T |
C |
15: 101,310,278 (GRCm39) |
|
probably benign |
Het |
Lrrc74a |
A |
G |
12: 86,805,380 (GRCm39) |
I401V |
probably damaging |
Het |
Luzp2 |
T |
C |
7: 54,707,815 (GRCm39) |
S68P |
possibly damaging |
Het |
Naip1 |
T |
C |
13: 100,562,694 (GRCm39) |
T824A |
probably benign |
Het |
Nav3 |
T |
C |
10: 109,659,376 (GRCm39) |
Q747R |
possibly damaging |
Het |
Or13p4 |
T |
A |
4: 118,547,271 (GRCm39) |
Y126F |
probably damaging |
Het |
Or1j11 |
A |
G |
2: 36,311,523 (GRCm39) |
T38A |
probably damaging |
Het |
Or4c107 |
A |
G |
2: 88,789,059 (GRCm39) |
D83G |
possibly damaging |
Het |
Or51f1 |
T |
C |
7: 102,506,169 (GRCm39) |
I107V |
possibly damaging |
Het |
Or52h2 |
T |
C |
7: 103,838,880 (GRCm39) |
H178R |
probably damaging |
Het |
Or5b120 |
A |
G |
19: 13,480,067 (GRCm39) |
D120G |
probably damaging |
Het |
Or7g22 |
A |
C |
9: 19,049,021 (GRCm39) |
H244P |
probably damaging |
Het |
Pcdhb11 |
T |
C |
18: 37,555,978 (GRCm39) |
I436T |
possibly damaging |
Het |
Pfdn2 |
T |
C |
1: 171,184,319 (GRCm39) |
Y65H |
probably damaging |
Het |
Polr2h |
T |
C |
16: 20,537,776 (GRCm39) |
Y58H |
probably benign |
Het |
Prrt4 |
G |
A |
6: 29,176,452 (GRCm39) |
P291L |
probably benign |
Het |
Psg29 |
G |
T |
7: 16,944,437 (GRCm39) |
V316L |
possibly damaging |
Het |
Rnf112 |
T |
A |
11: 61,340,555 (GRCm39) |
E525V |
probably damaging |
Het |
Sgms1 |
T |
C |
19: 32,101,773 (GRCm39) |
K411R |
probably benign |
Het |
Sh3tc1 |
T |
A |
5: 35,864,295 (GRCm39) |
K631* |
probably null |
Het |
Syne1 |
T |
C |
10: 5,393,223 (GRCm39) |
M48V |
probably benign |
Het |
Thrb |
C |
T |
14: 18,011,209 (GRCm38) |
T226I |
probably damaging |
Het |
Trim67 |
A |
T |
8: 125,541,843 (GRCm39) |
D347V |
probably damaging |
Het |
Try4 |
T |
C |
6: 41,280,355 (GRCm39) |
S60P |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,565,744 (GRCm39) |
L19876I |
probably damaging |
Het |
Vars1 |
C |
T |
17: 35,220,585 (GRCm39) |
R56C |
probably damaging |
Het |
Vmn1r9 |
A |
G |
6: 57,048,239 (GRCm39) |
I105V |
probably benign |
Het |
Vps8 |
C |
A |
16: 21,279,988 (GRCm39) |
T313K |
probably benign |
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 |
|
R6285:Evc2
|
UTSW |
5 |
37,581,923 (GRCm39) |
missense |
possibly damaging |
0.86 |
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'- CAATGAGTTCCCTGCATCCAG -3'
(R):5'- CGTGGTTACCTTGCAGAAAG -3'
Sequencing Primer
(F):5'- CTCTGAAAGTGTCTCTAAGTCACAGC -3'
(R):5'- GAAAGCTCTTTCTGAAAGTCTGG -3'
|
Posted On |
2017-06-26 |