Incidental Mutation 'R4767:Vmn2r4'
ID |
366203 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r4
|
Ensembl Gene |
ENSMUSG00000092049 |
Gene Name |
vomeronasal 2, receptor 4 |
Synonyms |
EG637053 |
MMRRC Submission |
042408-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R4767 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
64295982-64322741 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 64298397 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 577
(C577Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135228
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170280]
[ENSMUST00000175724]
|
AlphaFold |
K7N784 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170280
AA Change: C488Y
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000127513 Gene: ENSMUSG00000092049 AA Change: C488Y
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
1 |
416 |
2.7e-72 |
PFAM |
Pfam:Peripla_BP_6
|
61 |
240 |
1.9e-9 |
PFAM |
Pfam:NCD3G
|
458 |
511 |
1.1e-17 |
PFAM |
Pfam:7tm_3
|
542 |
779 |
1.8e-75 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000175724
AA Change: C577Y
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000135228 Gene: ENSMUSG00000092049 AA Change: C577Y
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
88 |
505 |
2.3e-75 |
PFAM |
Pfam:NCD3G
|
547 |
600 |
4.7e-17 |
PFAM |
Pfam:7tm_3
|
633 |
867 |
8.2e-47 |
PFAM |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
95% (62/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam19 |
T |
C |
11: 46,029,804 (GRCm39) |
|
probably null |
Het |
Aig1 |
T |
C |
10: 13,677,602 (GRCm39) |
N130S |
probably damaging |
Het |
Alx1 |
A |
T |
10: 102,861,047 (GRCm39) |
Y160* |
probably null |
Het |
Ap4e1 |
T |
C |
2: 126,902,358 (GRCm39) |
I755T |
probably benign |
Het |
Apoc3 |
C |
A |
9: 46,145,833 (GRCm39) |
E21* |
probably null |
Het |
Atp9b |
G |
T |
18: 80,796,285 (GRCm39) |
H919Q |
probably damaging |
Het |
Cemip |
T |
G |
7: 83,622,514 (GRCm39) |
Y555S |
probably damaging |
Het |
Cic |
T |
C |
7: 24,971,025 (GRCm39) |
V252A |
possibly damaging |
Het |
Cracr2a |
A |
T |
6: 127,588,470 (GRCm39) |
N210Y |
probably damaging |
Het |
Crocc2 |
G |
A |
1: 93,130,578 (GRCm39) |
R953Q |
possibly damaging |
Het |
Csnk1d |
A |
G |
11: 120,859,954 (GRCm39) |
S318P |
probably benign |
Het |
Ddx21 |
A |
G |
10: 62,427,751 (GRCm39) |
L384P |
probably damaging |
Het |
Dnah5 |
C |
T |
15: 28,270,620 (GRCm39) |
T974I |
probably benign |
Het |
Duox1 |
A |
G |
2: 122,163,922 (GRCm39) |
Y863C |
possibly damaging |
Het |
Epg5 |
C |
A |
18: 78,066,498 (GRCm39) |
P2133T |
possibly damaging |
Het |
Ephb6 |
A |
T |
6: 41,591,119 (GRCm39) |
Q92L |
possibly damaging |
Het |
Ercc4 |
C |
A |
16: 12,939,959 (GRCm39) |
A73D |
probably damaging |
Het |
Eva1c |
A |
T |
16: 90,701,235 (GRCm39) |
Y290F |
probably damaging |
Het |
Galnt5 |
T |
A |
2: 57,918,156 (GRCm39) |
V798E |
possibly damaging |
Het |
Haus4 |
T |
C |
14: 54,786,342 (GRCm39) |
E149G |
probably damaging |
Het |
Ighv1-13 |
A |
G |
12: 114,594,556 (GRCm39) |
Y86C |
unknown |
Het |
Igkv9-120 |
G |
T |
6: 68,027,351 (GRCm39) |
R88S |
possibly damaging |
Het |
Lama3 |
T |
C |
18: 12,633,620 (GRCm39) |
V1584A |
probably benign |
Het |
Lamb1 |
A |
G |
12: 31,358,010 (GRCm39) |
E1119G |
probably damaging |
Het |
Lao1 |
T |
C |
4: 118,825,185 (GRCm39) |
L335P |
probably damaging |
Het |
Mindy4 |
A |
G |
6: 55,237,550 (GRCm39) |
D375G |
probably damaging |
Het |
Myo5a |
T |
C |
9: 75,051,358 (GRCm39) |
I317T |
probably damaging |
Het |
Nhlrc2 |
G |
A |
19: 56,558,898 (GRCm39) |
V128I |
probably benign |
Het |
Nlrp2 |
C |
T |
7: 5,331,023 (GRCm39) |
D458N |
probably damaging |
Het |
Or1j18 |
A |
T |
2: 36,624,335 (GRCm39) |
M1L |
probably benign |
Het |
Or1o1 |
T |
A |
17: 37,717,091 (GRCm39) |
C217* |
probably null |
Het |
Or5a1 |
G |
T |
19: 12,097,300 (GRCm39) |
H247N |
probably damaging |
Het |
Or8g24 |
T |
C |
9: 38,989,988 (GRCm39) |
T18A |
possibly damaging |
Het |
Or9q2 |
A |
T |
19: 13,772,409 (GRCm39) |
C189S |
probably damaging |
Het |
Parp8 |
T |
C |
13: 117,005,072 (GRCm39) |
H663R |
probably damaging |
Het |
Pax6 |
T |
C |
2: 105,525,705 (GRCm39) |
S377P |
probably benign |
Het |
Pi15 |
A |
G |
1: 17,672,990 (GRCm39) |
D63G |
probably benign |
Het |
Plaa |
A |
G |
4: 94,474,495 (GRCm39) |
|
probably benign |
Het |
Rbm5 |
C |
A |
9: 107,622,412 (GRCm39) |
W546C |
probably damaging |
Het |
Rnf123 |
C |
A |
9: 107,929,288 (GRCm39) |
C1257F |
probably damaging |
Het |
Rnf185 |
A |
G |
11: 3,382,551 (GRCm39) |
S45P |
possibly damaging |
Het |
Sh3bp1 |
T |
C |
15: 78,788,697 (GRCm39) |
S241P |
possibly damaging |
Het |
Slfn8 |
G |
A |
11: 82,894,023 (GRCm39) |
A872V |
possibly damaging |
Het |
Smoc1 |
G |
A |
12: 81,151,547 (GRCm39) |
|
probably null |
Het |
Sox14 |
A |
T |
9: 99,757,686 (GRCm39) |
W18R |
probably damaging |
Het |
Spata31d1a |
T |
C |
13: 59,848,969 (GRCm39) |
E1053G |
probably benign |
Het |
Syne1 |
T |
A |
10: 5,294,866 (GRCm39) |
K1246* |
probably null |
Het |
Tbrg4 |
A |
C |
11: 6,570,909 (GRCm39) |
S188A |
probably benign |
Het |
Thnsl2 |
A |
T |
6: 71,111,279 (GRCm39) |
D196E |
probably damaging |
Het |
Tmem266 |
C |
T |
9: 55,288,025 (GRCm39) |
T34I |
probably damaging |
Het |
Tmem59l |
C |
A |
8: 70,938,748 (GRCm39) |
R111L |
probably benign |
Het |
Tpr |
T |
C |
1: 150,306,280 (GRCm39) |
|
probably benign |
Het |
Trpc6 |
T |
C |
9: 8,643,687 (GRCm39) |
S491P |
probably damaging |
Het |
Tspan10 |
A |
T |
11: 120,336,992 (GRCm39) |
N254I |
probably damaging |
Het |
Ubox5 |
A |
T |
2: 130,433,814 (GRCm39) |
L511Q |
probably damaging |
Het |
Vmn1r183 |
TATCCATC |
TATC |
7: 23,754,531 (GRCm39) |
|
probably null |
Het |
Vmn2r86 |
A |
T |
10: 130,291,606 (GRCm39) |
M53K |
probably benign |
Het |
Zfp948 |
T |
A |
17: 21,808,569 (GRCm39) |
I587N |
possibly damaging |
Het |
|
Other mutations in Vmn2r4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01310:Vmn2r4
|
APN |
3 |
64,317,200 (GRCm39) |
splice site |
probably null |
|
IGL01448:Vmn2r4
|
APN |
3 |
64,313,816 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01452:Vmn2r4
|
APN |
3 |
64,313,816 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01454:Vmn2r4
|
APN |
3 |
64,313,816 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01456:Vmn2r4
|
APN |
3 |
64,313,816 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01463:Vmn2r4
|
APN |
3 |
64,313,816 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01467:Vmn2r4
|
APN |
3 |
64,313,816 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01468:Vmn2r4
|
APN |
3 |
64,313,816 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01470:Vmn2r4
|
APN |
3 |
64,313,816 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01476:Vmn2r4
|
APN |
3 |
64,313,816 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01481:Vmn2r4
|
APN |
3 |
64,313,816 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01534:Vmn2r4
|
APN |
3 |
64,313,844 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01636:Vmn2r4
|
APN |
3 |
64,313,657 (GRCm39) |
missense |
probably benign |
0.21 |
IGL01879:Vmn2r4
|
APN |
3 |
64,298,431 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02147:Vmn2r4
|
APN |
3 |
64,305,782 (GRCm39) |
splice site |
probably benign |
|
IGL02276:Vmn2r4
|
APN |
3 |
64,313,877 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02432:Vmn2r4
|
APN |
3 |
64,313,821 (GRCm39) |
missense |
probably benign |
0.38 |
IGL02533:Vmn2r4
|
APN |
3 |
64,305,840 (GRCm39) |
nonsense |
probably null |
|
IGL02655:Vmn2r4
|
APN |
3 |
64,305,886 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02666:Vmn2r4
|
APN |
3 |
64,296,433 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02902:Vmn2r4
|
APN |
3 |
64,314,337 (GRCm39) |
missense |
probably benign |
0.22 |
IGL03189:Vmn2r4
|
APN |
3 |
64,296,589 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL03250:Vmn2r4
|
APN |
3 |
64,314,063 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03271:Vmn2r4
|
APN |
3 |
64,305,850 (GRCm39) |
missense |
probably benign |
0.01 |
R0310:Vmn2r4
|
UTSW |
3 |
64,296,855 (GRCm39) |
nonsense |
probably null |
|
R0504:Vmn2r4
|
UTSW |
3 |
64,296,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R1546:Vmn2r4
|
UTSW |
3 |
64,314,309 (GRCm39) |
missense |
probably damaging |
1.00 |
R1562:Vmn2r4
|
UTSW |
3 |
64,296,865 (GRCm39) |
missense |
probably damaging |
0.98 |
R1863:Vmn2r4
|
UTSW |
3 |
64,314,410 (GRCm39) |
missense |
probably benign |
0.33 |
R1873:Vmn2r4
|
UTSW |
3 |
64,298,479 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1939:Vmn2r4
|
UTSW |
3 |
64,305,976 (GRCm39) |
missense |
probably benign |
0.00 |
R2103:Vmn2r4
|
UTSW |
3 |
64,322,704 (GRCm39) |
missense |
possibly damaging |
0.48 |
R3083:Vmn2r4
|
UTSW |
3 |
64,296,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R3687:Vmn2r4
|
UTSW |
3 |
64,296,896 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3707:Vmn2r4
|
UTSW |
3 |
64,296,895 (GRCm39) |
missense |
probably damaging |
0.99 |
R3963:Vmn2r4
|
UTSW |
3 |
64,322,572 (GRCm39) |
missense |
probably damaging |
0.99 |
R4428:Vmn2r4
|
UTSW |
3 |
64,322,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R4710:Vmn2r4
|
UTSW |
3 |
64,317,201 (GRCm39) |
critical splice donor site |
probably null |
|
R4737:Vmn2r4
|
UTSW |
3 |
64,317,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R4776:Vmn2r4
|
UTSW |
3 |
64,296,082 (GRCm39) |
missense |
probably damaging |
0.96 |
R4834:Vmn2r4
|
UTSW |
3 |
64,317,484 (GRCm39) |
missense |
probably benign |
0.40 |
R4893:Vmn2r4
|
UTSW |
3 |
64,313,676 (GRCm39) |
missense |
probably damaging |
0.96 |
R4908:Vmn2r4
|
UTSW |
3 |
64,296,476 (GRCm39) |
missense |
possibly damaging |
0.59 |
R5049:Vmn2r4
|
UTSW |
3 |
64,306,019 (GRCm39) |
splice site |
probably null |
|
R5092:Vmn2r4
|
UTSW |
3 |
64,298,373 (GRCm39) |
missense |
probably benign |
0.01 |
R5234:Vmn2r4
|
UTSW |
3 |
64,305,878 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5240:Vmn2r4
|
UTSW |
3 |
64,314,358 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5704:Vmn2r4
|
UTSW |
3 |
64,317,370 (GRCm39) |
missense |
probably benign |
0.03 |
R5897:Vmn2r4
|
UTSW |
3 |
64,322,687 (GRCm39) |
nonsense |
probably null |
|
R5907:Vmn2r4
|
UTSW |
3 |
64,298,487 (GRCm39) |
missense |
probably damaging |
0.99 |
R5924:Vmn2r4
|
UTSW |
3 |
64,296,685 (GRCm39) |
missense |
probably damaging |
1.00 |
R6145:Vmn2r4
|
UTSW |
3 |
64,314,364 (GRCm39) |
missense |
probably benign |
0.00 |
R6191:Vmn2r4
|
UTSW |
3 |
64,322,702 (GRCm39) |
missense |
probably benign |
0.34 |
R6192:Vmn2r4
|
UTSW |
3 |
64,322,699 (GRCm39) |
missense |
probably benign |
0.00 |
R6207:Vmn2r4
|
UTSW |
3 |
64,313,926 (GRCm39) |
missense |
probably damaging |
1.00 |
R6457:Vmn2r4
|
UTSW |
3 |
64,317,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R6533:Vmn2r4
|
UTSW |
3 |
64,322,519 (GRCm39) |
missense |
probably benign |
|
R6545:Vmn2r4
|
UTSW |
3 |
64,313,777 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6594:Vmn2r4
|
UTSW |
3 |
64,296,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R7049:Vmn2r4
|
UTSW |
3 |
64,296,550 (GRCm39) |
missense |
probably benign |
0.14 |
R7150:Vmn2r4
|
UTSW |
3 |
64,305,898 (GRCm39) |
missense |
probably benign |
0.01 |
R7187:Vmn2r4
|
UTSW |
3 |
64,322,681 (GRCm39) |
missense |
probably benign |
0.00 |
R7363:Vmn2r4
|
UTSW |
3 |
64,314,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R7477:Vmn2r4
|
UTSW |
3 |
64,305,850 (GRCm39) |
missense |
probably benign |
0.01 |
R7675:Vmn2r4
|
UTSW |
3 |
64,322,657 (GRCm39) |
missense |
probably benign |
0.01 |
R7858:Vmn2r4
|
UTSW |
3 |
64,317,226 (GRCm39) |
missense |
probably benign |
0.00 |
R7888:Vmn2r4
|
UTSW |
3 |
64,313,943 (GRCm39) |
missense |
probably damaging |
0.99 |
R8678:Vmn2r4
|
UTSW |
3 |
64,314,391 (GRCm39) |
missense |
probably benign |
|
R8743:Vmn2r4
|
UTSW |
3 |
64,317,247 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8841:Vmn2r4
|
UTSW |
3 |
64,314,058 (GRCm39) |
missense |
probably damaging |
0.97 |
R9671:Vmn2r4
|
UTSW |
3 |
64,317,271 (GRCm39) |
missense |
probably benign |
0.00 |
R9778:Vmn2r4
|
UTSW |
3 |
64,322,497 (GRCm39) |
missense |
probably benign |
0.15 |
X0019:Vmn2r4
|
UTSW |
3 |
64,314,057 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- GTAAGTCTTTTCCAACTGCAGTAG -3'
(R):5'- TGTAATGGGAAATATGTCTCCATGG -3'
Sequencing Primer
(F):5'- TCCAACTGCAGTAGGAAAAACAG -3'
(R):5'- TGGGAAATATGTCTCCATGGATATAC -3'
|
Posted On |
2015-12-21 |