Incidental Mutation 'R5704:Vmn2r4'
| ID |
451826 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r4
|
| Ensembl Gene |
ENSMUSG00000092049 |
| Gene Name |
vomeronasal 2, receptor 4 |
| Synonyms |
EG637053 |
| MMRRC Submission |
043329-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R5704 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
64295982-64322741 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 64317370 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 34
(I34V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127513
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170280]
[ENSMUST00000175724]
|
| AlphaFold |
K7N784 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170280
AA Change: I34V
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000127513
Gene: ENSMUSG00000092049
AA Change: I34V
| 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 benign
Transcript: ENSMUST00000175724
AA Change: I123V
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000135228
Gene: ENSMUSG00000092049
AA Change: I123V
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
98% (85/87) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
G |
A |
5: 105,116,036 (GRCm39) |
A266V |
probably damaging |
Het |
| Acad10 |
A |
G |
5: 121,769,606 (GRCm39) |
S617P |
probably benign |
Het |
| Ahi1 |
A |
C |
10: 20,950,326 (GRCm39) |
M126L |
probably benign |
Het |
| Alk |
T |
C |
17: 72,910,115 (GRCm39) |
E197G |
probably damaging |
Het |
| Alyref2 |
A |
T |
1: 171,331,547 (GRCm39) |
Y108F |
probably damaging |
Het |
| Ankrd26 |
T |
G |
6: 118,500,843 (GRCm39) |
H876P |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,229,808 (GRCm39) |
T1298A |
probably damaging |
Het |
| Arhgap33 |
T |
A |
7: 30,219,045 (GRCm39) |
|
probably benign |
Het |
| Arhgef17 |
A |
G |
7: 100,530,548 (GRCm39) |
S1413P |
probably damaging |
Het |
| Arid1a |
A |
T |
4: 133,409,050 (GRCm39) |
V1819E |
unknown |
Het |
| Asprv1 |
A |
G |
6: 86,605,532 (GRCm39) |
N126S |
probably damaging |
Het |
| Atg16l2 |
T |
C |
7: 100,949,418 (GRCm39) |
Y43C |
probably damaging |
Het |
| Atp13a3 |
G |
T |
16: 30,140,697 (GRCm39) |
T1160K |
probably benign |
Het |
| Atp1a3 |
T |
C |
7: 24,696,736 (GRCm39) |
T272A |
probably damaging |
Het |
| Bpifa3 |
G |
T |
2: 153,979,562 (GRCm39) |
|
probably null |
Het |
| Bri3 |
T |
C |
5: 144,192,716 (GRCm39) |
V80A |
probably damaging |
Het |
| Ccdc28a |
T |
A |
10: 18,106,320 (GRCm39) |
E2V |
probably damaging |
Het |
| Ccdc7a |
T |
A |
8: 129,706,577 (GRCm39) |
|
probably benign |
Het |
| Cds2 |
G |
A |
2: 132,135,249 (GRCm39) |
V47I |
probably benign |
Het |
| Cela2a |
G |
A |
4: 141,553,299 (GRCm39) |
|
probably benign |
Het |
| Ckap5 |
A |
G |
2: 91,406,548 (GRCm39) |
Y783C |
probably damaging |
Het |
| Cmtr1 |
G |
C |
17: 29,882,217 (GRCm39) |
A23P |
possibly damaging |
Het |
| Crym |
C |
A |
7: 119,801,163 (GRCm39) |
|
probably null |
Het |
| Def6 |
T |
G |
17: 28,447,200 (GRCm39) |
D610E |
probably benign |
Het |
| Dnajc15 |
T |
C |
14: 78,063,898 (GRCm39) |
Y130C |
probably damaging |
Het |
| Dock8 |
G |
A |
19: 25,151,586 (GRCm39) |
V1560I |
probably damaging |
Het |
| Eif4g3 |
T |
C |
4: 137,918,003 (GRCm39) |
V1501A |
probably damaging |
Het |
| Esyt1 |
A |
G |
10: 128,347,379 (GRCm39) |
S1049P |
probably damaging |
Het |
| Gm4952 |
G |
T |
19: 12,604,275 (GRCm39) |
R229L |
probably damaging |
Het |
| Golga5 |
T |
A |
12: 102,455,707 (GRCm39) |
H548Q |
probably benign |
Het |
| Gspt1 |
A |
T |
16: 11,046,057 (GRCm39) |
D449E |
possibly damaging |
Het |
| Gtf3c2 |
T |
A |
5: 31,316,454 (GRCm39) |
D732V |
probably damaging |
Het |
| Hax1 |
T |
A |
3: 89,903,403 (GRCm39) |
Q168L |
probably damaging |
Het |
| Hectd2 |
T |
A |
19: 36,576,291 (GRCm39) |
S91T |
possibly damaging |
Het |
| Igfbp2 |
T |
A |
1: 72,891,303 (GRCm39) |
H300Q |
probably benign |
Het |
| Il12rb2 |
T |
C |
6: 67,269,197 (GRCm39) |
N538S |
possibly damaging |
Het |
| Insr |
G |
A |
8: 3,235,122 (GRCm39) |
P124L |
possibly damaging |
Het |
| Irak3 |
C |
A |
10: 119,981,594 (GRCm39) |
R437L |
probably benign |
Het |
| Jhy |
C |
T |
9: 40,808,734 (GRCm39) |
V676I |
probably damaging |
Het |
| Kcns3 |
G |
A |
12: 11,142,328 (GRCm39) |
R124C |
probably benign |
Het |
| Lactb |
G |
A |
9: 66,863,058 (GRCm39) |
R519* |
probably null |
Het |
| Mdfic |
G |
A |
6: 15,770,291 (GRCm39) |
G94D |
probably damaging |
Het |
| Mospd3 |
A |
G |
5: 137,598,613 (GRCm39) |
V42A |
possibly damaging |
Het |
| Mov10 |
A |
G |
3: 104,706,912 (GRCm39) |
V666A |
probably benign |
Het |
| Mucl1 |
T |
C |
15: 103,785,663 (GRCm39) |
I15V |
probably benign |
Het |
| Mug1 |
T |
A |
6: 121,828,392 (GRCm39) |
V268D |
possibly damaging |
Het |
| Myo5c |
T |
A |
9: 75,180,185 (GRCm39) |
S709T |
probably benign |
Het |
| Nol11 |
T |
A |
11: 107,064,195 (GRCm39) |
E519V |
probably benign |
Het |
| Nrp2 |
A |
T |
1: 62,824,267 (GRCm39) |
I791L |
probably benign |
Het |
| Nudt19 |
A |
G |
7: 35,250,972 (GRCm39) |
Y256H |
probably benign |
Het |
| Nudt8 |
C |
T |
19: 4,050,777 (GRCm39) |
R42C |
probably damaging |
Het |
| Or5ac16 |
A |
G |
16: 59,022,369 (GRCm39) |
L140P |
probably damaging |
Het |
| Or6c213 |
T |
A |
10: 129,574,685 (GRCm39) |
I34F |
probably benign |
Het |
| Pcdhga12 |
A |
G |
18: 37,900,422 (GRCm39) |
Y418C |
probably damaging |
Het |
| Pds5a |
A |
G |
5: 65,784,422 (GRCm39) |
|
probably null |
Het |
| Pdzd2 |
T |
C |
15: 12,385,761 (GRCm39) |
D1003G |
probably benign |
Het |
| Pglyrp4 |
T |
A |
3: 90,647,581 (GRCm39) |
|
probably null |
Het |
| Phip |
T |
C |
9: 82,753,408 (GRCm39) |
N1779D |
probably damaging |
Het |
| Postn |
G |
T |
3: 54,279,527 (GRCm39) |
C335F |
probably damaging |
Het |
| Ppp4r3a |
T |
C |
12: 101,049,619 (GRCm39) |
|
probably benign |
Het |
| Prrt2 |
C |
T |
7: 126,618,590 (GRCm39) |
V292M |
probably damaging |
Het |
| Rpl18 |
T |
C |
7: 45,370,146 (GRCm39) |
V138A |
possibly damaging |
Het |
| Rps14 |
G |
A |
18: 60,910,205 (GRCm39) |
|
probably benign |
Het |
| Sbno1 |
A |
G |
5: 124,533,956 (GRCm39) |
|
probably null |
Het |
| Siah2 |
T |
G |
3: 58,583,821 (GRCm39) |
K155T |
probably damaging |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc25a39 |
T |
A |
11: 102,294,220 (GRCm39) |
|
probably benign |
Het |
| Slco1a7 |
T |
C |
6: 141,658,980 (GRCm39) |
M539V |
probably benign |
Het |
| Smok2b |
T |
A |
17: 13,455,231 (GRCm39) |
C464S |
probably damaging |
Het |
| Spata31 |
G |
A |
13: 65,069,855 (GRCm39) |
V668I |
probably benign |
Het |
| Tbxas1 |
C |
A |
6: 38,998,067 (GRCm39) |
H212N |
probably benign |
Het |
| Tenm1 |
A |
G |
X: 42,163,572 (GRCm39) |
V107A |
possibly damaging |
Het |
| Thada |
C |
T |
17: 84,538,329 (GRCm39) |
A1560T |
probably benign |
Het |
| Tmem241 |
G |
C |
18: 12,197,263 (GRCm39) |
F65L |
probably damaging |
Het |
| Ttc16 |
C |
G |
2: 32,659,137 (GRCm39) |
E321Q |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,748,929 (GRCm39) |
L4040H |
possibly damaging |
Het |
| Tyw1 |
G |
A |
5: 130,310,863 (GRCm39) |
W437* |
probably null |
Het |
| Unc79 |
T |
A |
12: 102,968,202 (GRCm39) |
Y143N |
probably damaging |
Het |
| Urb2 |
C |
T |
8: 124,764,921 (GRCm39) |
R1310W |
probably damaging |
Het |
| Zfp513 |
C |
T |
5: 31,358,010 (GRCm39) |
C121Y |
possibly damaging |
Het |
| Zfp606 |
T |
G |
7: 12,227,456 (GRCm39) |
W468G |
probably damaging |
Het |
| Zfyve16 |
C |
T |
13: 92,640,979 (GRCm39) |
|
probably null |
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 |
|
R4767:Vmn2r4
|
UTSW |
3 |
64,298,397 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- ACCTGAGGTACACGATGAATCC -3'
(R):5'- CTACCTGTCTGTCTGCAGTG -3'
Sequencing Primer
(F):5'- CACGATGAATCCCTACAATTCTTG -3'
(R):5'- CATTCTTCAAGCATTTGTGTAGCTG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation