Incidental Mutation 'R3953:Evc2'
| ID |
308036 |
| 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 |
040830-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3953 (G1)
|
| Quality Score |
158 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
37495843-37582399 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 37537931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056365]
|
| AlphaFold |
Q8K1G2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000056365
|
| SMART Domains |
Protein: ENSMUSP00000055130
Gene: ENSMUSG00000050248
| 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 |
0.9477 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (61/61) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
G |
A |
14: 66,295,059 (GRCm39) |
S262L |
probably damaging |
Het |
| Adgrf1 |
A |
G |
17: 43,621,098 (GRCm39) |
N445S |
probably benign |
Het |
| Aldh7a1 |
C |
A |
18: 56,681,577 (GRCm39) |
V198L |
probably damaging |
Het |
| Ank2 |
A |
T |
3: 126,781,809 (GRCm39) |
D6E |
probably damaging |
Het |
| Arhgap31 |
A |
G |
16: 38,423,826 (GRCm39) |
F747L |
probably benign |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Cadps |
T |
C |
14: 12,505,937 (GRCm38) |
D711G |
probably damaging |
Het |
| Clspn |
ACGGCGGCGGC |
A |
4: 126,460,230 (GRCm39) |
|
probably null |
Het |
| Cpsf3 |
A |
G |
12: 21,363,806 (GRCm39) |
D632G |
probably benign |
Het |
| Cyp4f18 |
C |
T |
8: 72,754,801 (GRCm39) |
R148H |
probably damaging |
Het |
| Dennd4a |
C |
A |
9: 64,759,857 (GRCm39) |
P321T |
probably damaging |
Het |
| Dennd5a |
A |
G |
7: 109,504,906 (GRCm39) |
M868T |
probably benign |
Het |
| Dipk1b |
C |
T |
2: 26,525,579 (GRCm39) |
P171L |
probably benign |
Het |
| Dnah2 |
G |
A |
11: 69,344,929 (GRCm39) |
T2715M |
probably damaging |
Het |
| Fkbp8 |
T |
G |
8: 70,987,517 (GRCm39) |
S376A |
probably damaging |
Het |
| Gucy1a2 |
T |
C |
9: 3,582,704 (GRCm39) |
|
probably benign |
Het |
| Gys1 |
C |
T |
7: 45,089,470 (GRCm39) |
P274S |
probably damaging |
Het |
| Hbq1a |
T |
C |
11: 32,250,214 (GRCm39) |
|
probably null |
Het |
| Herc1 |
C |
T |
9: 66,341,075 (GRCm39) |
Q1731* |
probably null |
Het |
| Igfn1 |
A |
G |
1: 135,894,918 (GRCm39) |
Y1883H |
possibly damaging |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Lnx1 |
T |
C |
5: 74,766,750 (GRCm39) |
T455A |
probably benign |
Het |
| Mast2 |
A |
T |
4: 116,170,926 (GRCm39) |
H612Q |
probably damaging |
Het |
| Mcm9 |
G |
A |
10: 53,439,440 (GRCm39) |
H578Y |
probably damaging |
Het |
| Mefv |
A |
G |
16: 3,533,264 (GRCm39) |
S336P |
possibly damaging |
Het |
| Micu1 |
A |
T |
10: 59,586,326 (GRCm39) |
H134L |
probably benign |
Het |
| Mrgprb2 |
C |
T |
7: 48,202,116 (GRCm39) |
G203D |
possibly damaging |
Het |
| Ncapd2 |
T |
C |
6: 125,147,697 (GRCm39) |
I1179V |
probably damaging |
Het |
| Nek7 |
C |
A |
1: 138,462,127 (GRCm39) |
C79F |
probably damaging |
Het |
| Nup210l |
A |
T |
3: 90,100,361 (GRCm39) |
R1462S |
possibly damaging |
Het |
| Or14j6 |
A |
T |
17: 38,214,500 (GRCm39) |
H21L |
probably benign |
Het |
| Or51f1 |
A |
G |
7: 102,505,824 (GRCm39) |
C222R |
probably damaging |
Het |
| Or5al1 |
A |
G |
2: 85,990,282 (GRCm39) |
V144A |
probably benign |
Het |
| Or5b119 |
G |
A |
19: 13,456,806 (GRCm39) |
S252L |
probably benign |
Het |
| Pcnx3 |
A |
G |
19: 5,733,808 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,103,145 (GRCm39) |
|
probably benign |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Ptprb |
A |
G |
10: 116,177,399 (GRCm39) |
N1320S |
probably benign |
Het |
| Ralgapa2 |
C |
T |
2: 146,277,884 (GRCm39) |
V426I |
probably damaging |
Het |
| Rhobtb2 |
T |
C |
14: 70,031,488 (GRCm39) |
T546A |
possibly damaging |
Het |
| Robo1 |
A |
G |
16: 72,821,226 (GRCm39) |
D1331G |
probably damaging |
Het |
| Sgcz |
A |
G |
8: 37,993,346 (GRCm39) |
|
probably benign |
Het |
| Slc26a1 |
T |
C |
5: 108,821,448 (GRCm39) |
D147G |
possibly damaging |
Het |
| Slc44a5 |
A |
G |
3: 153,877,209 (GRCm39) |
D13G |
probably benign |
Het |
| Slco1a1 |
A |
T |
6: 141,868,833 (GRCm39) |
M377K |
probably damaging |
Het |
| St18 |
T |
A |
1: 6,873,117 (GRCm39) |
L284Q |
probably damaging |
Het |
| Tbc1d9 |
C |
T |
8: 83,960,161 (GRCm39) |
T138I |
probably damaging |
Het |
| Tec |
T |
C |
5: 72,939,520 (GRCm39) |
|
probably null |
Het |
| Tln2 |
G |
A |
9: 67,277,911 (GRCm39) |
P368S |
probably damaging |
Het |
| Tmem131l |
C |
A |
3: 83,817,726 (GRCm39) |
C1257F |
probably damaging |
Het |
| Tmf1 |
C |
A |
6: 97,153,167 (GRCm39) |
R302L |
probably damaging |
Het |
| Tnip3 |
A |
T |
6: 65,574,379 (GRCm39) |
T137S |
possibly damaging |
Het |
| Trim30d |
C |
T |
7: 104,121,728 (GRCm39) |
G339D |
probably damaging |
Het |
| Tspan32 |
T |
A |
7: 142,560,735 (GRCm39) |
M61K |
probably damaging |
Het |
| Ttc6 |
T |
C |
12: 57,744,238 (GRCm39) |
V1290A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,799,593 (GRCm39) |
V429A |
possibly damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,660,358 (GRCm39) |
Y257N |
possibly damaging |
Het |
| Vps13d |
A |
G |
4: 144,875,450 (GRCm39) |
S1686P |
probably damaging |
Het |
| Wdr41 |
A |
G |
13: 95,133,571 (GRCm39) |
E75G |
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 |
|
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 |
|
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'- AGTGTAGAAGAGCTGATGGACTTC -3'
(R):5'- ATTCCATCACACGGTTGTCTTG -3'
Sequencing Primer
(F):5'- GGACTTCTTCCAGGCCAC -3'
(R):5'- ACACGGTTGTCTTGACTACCATG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation