Incidental Mutation 'R7915:Evc2'
| ID |
648005 |
| 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 |
045963-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7915 (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 C
at 37544206 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 652
(S652P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056365]
|
| AlphaFold |
Q8K1G2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056365
AA Change: S652P
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000055130
Gene: ENSMUSG00000050248
AA Change: S652P
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (66/68) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
G |
17: 24,484,507 (GRCm39) |
H1585P |
probably damaging |
Het |
| Acaca |
A |
T |
11: 84,167,414 (GRCm39) |
T1063S |
probably benign |
Het |
| Actc1 |
T |
A |
2: 113,880,967 (GRCm39) |
K86M |
probably damaging |
Het |
| Amz1 |
A |
G |
5: 140,727,190 (GRCm39) |
N51S |
probably benign |
Het |
| Arhgap33 |
G |
A |
7: 30,222,648 (GRCm39) |
P1095S |
probably benign |
Het |
| Bicra |
T |
C |
7: 15,722,447 (GRCm39) |
T357A |
probably benign |
Het |
| C130032M10Rik |
A |
G |
9: 114,345,123 (GRCm39) |
R120G |
unknown |
Het |
| Cadps |
A |
G |
14: 12,705,544 (GRCm38) |
F284L |
possibly damaging |
Het |
| Ccdc83 |
G |
A |
7: 89,893,290 (GRCm39) |
Q156* |
probably null |
Het |
| Cdh20 |
T |
A |
1: 104,861,898 (GRCm39) |
M26K |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,143,668 (GRCm39) |
L2979P |
probably damaging |
Het |
| Cdhr17 |
A |
G |
5: 17,032,012 (GRCm39) |
N556D |
probably benign |
Het |
| Crocc2 |
T |
C |
1: 93,141,363 (GRCm39) |
L1172P |
probably damaging |
Het |
| Cyp2d10 |
C |
T |
15: 82,288,628 (GRCm39) |
|
probably null |
Het |
| Cyp2j9 |
T |
A |
4: 96,479,621 (GRCm39) |
|
probably benign |
Het |
| Dgcr2 |
A |
G |
16: 17,677,266 (GRCm39) |
|
probably null |
Het |
| Dio3 |
A |
G |
12: 110,246,473 (GRCm39) |
M270V |
|
Het |
| Dll1 |
C |
A |
17: 15,588,690 (GRCm39) |
D662Y |
probably damaging |
Het |
| Drd1 |
G |
T |
13: 54,207,834 (GRCm39) |
P127T |
probably damaging |
Het |
| Fam149a |
C |
A |
8: 45,794,280 (GRCm39) |
M708I |
probably benign |
Het |
| Fam89a |
T |
C |
8: 125,467,895 (GRCm39) |
E139G |
probably damaging |
Het |
| Gpr141 |
T |
C |
13: 19,936,729 (GRCm39) |
I15M |
probably benign |
Het |
| Hcn4 |
G |
A |
9: 58,731,218 (GRCm39) |
E142K |
unknown |
Het |
| Hivep3 |
T |
A |
4: 119,954,962 (GRCm39) |
S1093T |
possibly damaging |
Het |
| Inpp5f |
C |
A |
7: 128,269,433 (GRCm39) |
T261K |
probably benign |
Het |
| Ints3 |
A |
T |
3: 90,340,132 (GRCm39) |
D42E |
probably benign |
Het |
| Krt90 |
A |
T |
15: 101,466,838 (GRCm39) |
|
probably null |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Lrig1 |
C |
A |
6: 94,607,082 (GRCm39) |
|
probably null |
Het |
| Mapk14 |
A |
G |
17: 28,947,928 (GRCm39) |
T221A |
probably benign |
Het |
| Megf10 |
A |
T |
18: 57,373,807 (GRCm39) |
T202S |
probably benign |
Het |
| Neo1 |
A |
T |
9: 58,838,264 (GRCm39) |
F507I |
probably benign |
Het |
| Or7a35 |
A |
G |
10: 78,853,264 (GRCm39) |
Y36C |
probably damaging |
Het |
| Or8b48 |
A |
T |
9: 38,492,969 (GRCm39) |
Y132F |
probably damaging |
Het |
| Or8k37 |
T |
A |
2: 86,469,110 (GRCm39) |
*314L |
probably null |
Het |
| Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pkd1 |
T |
A |
17: 24,811,630 (GRCm39) |
Y3724* |
probably null |
Het |
| Plxnd1 |
T |
C |
6: 115,943,879 (GRCm39) |
D1140G |
probably benign |
Het |
| Pramel22 |
T |
C |
4: 143,382,315 (GRCm39) |
K127R |
possibly damaging |
Het |
| Prex1 |
A |
G |
2: 166,463,112 (GRCm39) |
S250P |
probably damaging |
Het |
| Prom1 |
A |
T |
5: 44,162,277 (GRCm39) |
M777K |
possibly damaging |
Het |
| Prrc2c |
A |
C |
1: 162,519,977 (GRCm39) |
S2125A |
probably benign |
Het |
| Ptpn12 |
A |
G |
5: 21,214,449 (GRCm39) |
I229T |
probably damaging |
Het |
| Ranbp6 |
A |
G |
19: 29,790,073 (GRCm39) |
V93A |
probably benign |
Het |
| Rtn3 |
A |
G |
19: 7,434,865 (GRCm39) |
C376R |
probably benign |
Het |
| Sis |
A |
C |
3: 72,828,471 (GRCm39) |
H1201Q |
probably damaging |
Het |
| Slc20a1 |
G |
A |
2: 129,049,757 (GRCm39) |
D340N |
probably benign |
Het |
| Slc3a2 |
G |
A |
19: 8,685,182 (GRCm39) |
R535W |
probably damaging |
Het |
| Slc5a2 |
T |
A |
7: 127,864,966 (GRCm39) |
L33Q |
probably damaging |
Het |
| Sltm |
G |
T |
9: 70,494,431 (GRCm39) |
R927L |
probably damaging |
Het |
| Spaca7b |
T |
C |
8: 11,728,645 (GRCm39) |
T9A |
possibly damaging |
Het |
| Stat1 |
A |
G |
1: 52,190,440 (GRCm39) |
D565G |
probably benign |
Het |
| Terb1 |
T |
C |
8: 105,173,848 (GRCm39) |
K745R |
possibly damaging |
Het |
| Tescl |
T |
C |
7: 24,033,113 (GRCm39) |
I71V |
probably damaging |
Het |
| Tgm1 |
T |
C |
14: 55,937,883 (GRCm39) |
D742G |
probably damaging |
Het |
| Tmem128 |
T |
A |
5: 38,423,875 (GRCm39) |
W30R |
probably benign |
Het |
| Tox |
T |
A |
4: 6,822,949 (GRCm39) |
M123L |
probably benign |
Het |
| Tsnaxip1 |
A |
G |
8: 106,569,413 (GRCm39) |
S547G |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,567,539 (GRCm39) |
K27785* |
probably null |
Het |
| Tut7 |
T |
C |
13: 59,932,628 (GRCm39) |
I1345V |
probably benign |
Het |
| Usp38 |
A |
C |
8: 81,727,712 (GRCm39) |
S340R |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,340,956 (GRCm39) |
H2840Q |
probably damaging |
Het |
| Vars2 |
T |
C |
17: 35,975,731 (GRCm39) |
I229V |
probably damaging |
Het |
| Vmn1r16 |
A |
T |
6: 57,300,380 (GRCm39) |
Y81N |
probably damaging |
Het |
| Vmn2r98 |
A |
T |
17: 19,287,493 (GRCm39) |
D442V |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,813,389 (GRCm39) |
I3296V |
|
Het |
| Wwtr1 |
A |
G |
3: 57,483,020 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- GGGTCCTGCTCATTCAATTGC -3'
(R):5'- TCCAGTGCATCCTGCTGTAG -3'
Sequencing Primer
(F):5'- TTCCCGCCAGCACAAGGAG -3'
(R):5'- AGCTCCTGGCCACGTTC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation