Incidental Mutation 'R4893:Vmn2r4'
| ID |
377383 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r4
|
| Ensembl Gene |
ENSMUSG00000092049 |
| Gene Name |
vomeronasal 2, receptor 4 |
| Synonyms |
EG637053 |
| MMRRC Submission |
042498-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R4893 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
64295982-64322741 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 64313676 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 435
(L435H)
|
| 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: L346H
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000127513
Gene: ENSMUSG00000092049
AA Change: L346H
| 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: L435H
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135228
Gene: ENSMUSG00000092049
AA Change: L435H
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
A |
G |
8: 117,697,904 (GRCm39) |
I401T |
probably damaging |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| Acss1 |
C |
A |
2: 150,471,786 (GRCm39) |
V323F |
probably damaging |
Het |
| Adgrf3 |
T |
G |
5: 30,405,476 (GRCm39) |
D286A |
probably benign |
Het |
| Akap5 |
T |
C |
12: 76,376,743 (GRCm39) |
V718A |
probably damaging |
Het |
| Ankk1 |
A |
G |
9: 49,326,983 (GRCm39) |
V732A |
probably benign |
Het |
| Antxr2 |
T |
A |
5: 98,151,931 (GRCm39) |
D180V |
probably damaging |
Het |
| Arfgef2 |
T |
G |
2: 166,708,876 (GRCm39) |
F1063V |
probably benign |
Het |
| Ascl5 |
A |
T |
1: 135,978,917 (GRCm39) |
I126F |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,417,577 (GRCm39) |
|
probably null |
Het |
| Atf6b |
T |
C |
17: 34,867,586 (GRCm39) |
S100P |
probably damaging |
Het |
| Baz2a |
C |
A |
10: 127,959,284 (GRCm39) |
H1266Q |
possibly damaging |
Het |
| Cdh4 |
A |
T |
2: 179,489,212 (GRCm39) |
|
probably benign |
Het |
| Celsr3 |
C |
G |
9: 108,726,620 (GRCm39) |
S3283C |
probably damaging |
Het |
| Clca4b |
C |
T |
3: 144,630,934 (GRCm39) |
V309M |
possibly damaging |
Het |
| Cnbd2 |
T |
C |
2: 156,207,104 (GRCm39) |
Y436H |
probably damaging |
Het |
| Csnk1a1 |
T |
C |
18: 61,718,372 (GRCm39) |
|
probably benign |
Het |
| Cstf1 |
C |
T |
2: 172,222,444 (GRCm39) |
R401C |
probably damaging |
Het |
| Cul3 |
A |
G |
1: 80,266,567 (GRCm39) |
I117T |
probably damaging |
Het |
| Dlgap3 |
A |
G |
4: 127,088,776 (GRCm39) |
D124G |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,431,325 (GRCm39) |
D381G |
possibly damaging |
Het |
| Dtna |
T |
C |
18: 23,702,724 (GRCm39) |
L85P |
probably damaging |
Het |
| Ephb2 |
A |
G |
4: 136,387,064 (GRCm39) |
I722T |
probably damaging |
Het |
| Epn3 |
A |
T |
11: 94,382,822 (GRCm39) |
F421I |
probably damaging |
Het |
| Fam83f |
T |
A |
15: 80,576,156 (GRCm39) |
L269H |
probably damaging |
Het |
| Fhip2a |
T |
A |
19: 57,370,188 (GRCm39) |
H477Q |
probably benign |
Het |
| Gata4 |
G |
A |
14: 63,439,045 (GRCm39) |
A139V |
probably benign |
Het |
| Glce |
T |
C |
9: 61,975,777 (GRCm39) |
D241G |
probably benign |
Het |
| Gm17728 |
A |
T |
17: 9,641,063 (GRCm39) |
I58F |
probably benign |
Het |
| Inhba |
A |
T |
13: 16,201,134 (GRCm39) |
D232V |
possibly damaging |
Het |
| Itgb2l |
C |
A |
16: 96,229,021 (GRCm39) |
R394L |
probably benign |
Het |
| Klhl14 |
T |
C |
18: 21,690,992 (GRCm39) |
Y486C |
probably damaging |
Het |
| Krt1 |
A |
G |
15: 101,758,555 (GRCm39) |
I203T |
probably damaging |
Het |
| Lims2 |
T |
C |
18: 32,074,864 (GRCm39) |
|
probably null |
Het |
| Lrrc31 |
T |
G |
3: 30,733,446 (GRCm39) |
I423L |
probably benign |
Het |
| Map7d1 |
C |
T |
4: 126,127,015 (GRCm39) |
D732N |
unknown |
Het |
| Mau2 |
A |
T |
8: 70,483,290 (GRCm39) |
|
probably null |
Het |
| Mbtps1 |
G |
A |
8: 120,244,932 (GRCm39) |
R840W |
probably damaging |
Het |
| Morn3 |
T |
C |
5: 123,175,745 (GRCm39) |
I214M |
probably damaging |
Het |
| Mrpl44 |
A |
G |
1: 79,755,582 (GRCm39) |
K63E |
probably damaging |
Het |
| Muc20 |
T |
C |
16: 32,615,042 (GRCm39) |
T112A |
possibly damaging |
Het |
| Myo6 |
T |
A |
9: 80,136,159 (GRCm39) |
L94Q |
probably damaging |
Het |
| Nos1 |
C |
A |
5: 118,090,942 (GRCm39) |
T1423K |
possibly damaging |
Het |
| Or2l13 |
A |
G |
16: 19,305,653 (GRCm39) |
T22A |
probably benign |
Het |
| Or2t1 |
T |
C |
14: 14,328,852 (GRCm38) |
V247A |
probably damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,385,429 (GRCm39) |
T1114A |
probably benign |
Het |
| Pgm2 |
T |
C |
5: 64,263,283 (GRCm39) |
V310A |
probably benign |
Het |
| Pi4ka |
T |
C |
16: 17,194,900 (GRCm39) |
E166G |
probably benign |
Het |
| Pign |
A |
T |
1: 105,574,436 (GRCm39) |
D303E |
probably damaging |
Het |
| Pik3c3 |
G |
T |
18: 30,415,053 (GRCm39) |
V149L |
probably benign |
Het |
| Pkd1l3 |
A |
T |
8: 110,365,026 (GRCm39) |
Y1126F |
probably benign |
Het |
| Pkd2l1 |
T |
A |
19: 44,142,210 (GRCm39) |
Q516L |
probably benign |
Het |
| Pnliprp2 |
C |
A |
19: 58,759,853 (GRCm39) |
Q355K |
probably benign |
Het |
| Pnpla7 |
T |
A |
2: 24,943,688 (GRCm39) |
Y1314* |
probably null |
Het |
| Ppp1r1b |
A |
G |
11: 98,246,170 (GRCm39) |
T51A |
possibly damaging |
Het |
| Prkcd |
A |
T |
14: 30,321,382 (GRCm39) |
S544T |
probably damaging |
Het |
| Pusl1 |
G |
A |
4: 155,973,998 (GRCm39) |
T252I |
probably benign |
Het |
| Rnf44 |
A |
G |
13: 54,829,745 (GRCm39) |
|
probably null |
Het |
| Slc24a2 |
A |
T |
4: 87,145,145 (GRCm39) |
V303E |
probably damaging |
Het |
| Slc28a2 |
T |
A |
2: 122,285,697 (GRCm39) |
|
probably null |
Het |
| Sox8 |
T |
C |
17: 25,787,963 (GRCm39) |
D162G |
probably damaging |
Het |
| Spag1 |
T |
C |
15: 36,197,992 (GRCm39) |
|
probably null |
Het |
| Taar6 |
T |
C |
10: 23,861,298 (GRCm39) |
I83V |
probably benign |
Het |
| Tes |
T |
A |
6: 17,104,595 (GRCm39) |
C359S |
probably damaging |
Het |
| Zfhx3 |
G |
T |
8: 109,683,639 (GRCm39) |
D3693Y |
unknown |
Het |
| Zfp931 |
G |
A |
2: 177,709,996 (GRCm39) |
P130L |
probably damaging |
Het |
| Zfr |
T |
G |
15: 12,136,628 (GRCm39) |
V95G |
unknown |
Het |
| Zw10 |
A |
G |
9: 48,985,325 (GRCm39) |
E587G |
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 |
|
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 |
|
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'- TTCAGAGGTATGAACATGGGTG -3'
(R):5'- ATGTCTTGACCATTGAATTCTGGC -3'
Sequencing Primer
(F):5'- TGAACATGGGTGTAAACACTTG -3'
(R):5'- GGCAAACTGCTTTTAACTGTACCTGG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation