Incidental Mutation 'R5240:Vmn2r4'
| ID |
400690 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r4
|
| Ensembl Gene |
ENSMUSG00000092049 |
| Gene Name |
vomeronasal 2, receptor 4 |
| Synonyms |
EG637053 |
| MMRRC Submission |
042811-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R5240 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
64295982-64322741 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 64314358 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 208
(S208A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135228
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170280]
[ENSMUST00000175724]
|
| AlphaFold |
K7N784 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170280
AA Change: S119A
PolyPhen 2
Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000127513
Gene: ENSMUSG00000092049
AA Change: S119A
| 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 |
possibly damaging
Transcript: ENSMUST00000175724
AA Change: S208A
PolyPhen 2
Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000135228
Gene: ENSMUSG00000092049
AA Change: S208A
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
100% (69/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
A |
C |
3: 59,659,449 (GRCm39) |
T301P |
probably damaging |
Het |
| Cdc42bpg |
T |
G |
19: 6,365,929 (GRCm39) |
L786R |
probably damaging |
Het |
| Cfap73 |
C |
T |
5: 120,767,772 (GRCm39) |
V260I |
probably damaging |
Het |
| Chchd10 |
A |
T |
10: 75,773,283 (GRCm39) |
N131I |
probably damaging |
Het |
| Chn2 |
T |
C |
6: 54,197,680 (GRCm39) |
V190A |
probably benign |
Het |
| Clec2l |
C |
T |
6: 38,650,387 (GRCm39) |
T64I |
probably damaging |
Het |
| Cpeb3 |
T |
A |
19: 37,151,915 (GRCm39) |
T154S |
probably damaging |
Het |
| D130043K22Rik |
A |
G |
13: 25,061,960 (GRCm39) |
E643G |
probably damaging |
Het |
| Ddx31 |
A |
G |
2: 28,736,042 (GRCm39) |
M127V |
probably benign |
Het |
| Dennd1b |
A |
G |
1: 138,990,615 (GRCm39) |
Y193C |
probably damaging |
Het |
| Dgke |
T |
A |
11: 88,941,511 (GRCm39) |
D288V |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,247,639 (GRCm39) |
L1683* |
probably null |
Het |
| Dusp29 |
G |
A |
14: 21,727,091 (GRCm39) |
R186W |
probably benign |
Het |
| E130116L18Rik |
G |
T |
5: 25,428,018 (GRCm39) |
|
probably benign |
Het |
| Eif2b5 |
G |
A |
16: 20,320,148 (GRCm39) |
V115I |
possibly damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Fgfr3 |
A |
T |
5: 33,887,382 (GRCm39) |
T234S |
probably damaging |
Het |
| Gipc2 |
A |
T |
3: 151,808,299 (GRCm39) |
D251E |
possibly damaging |
Het |
| Gm11787 |
A |
C |
4: 3,511,810 (GRCm39) |
|
noncoding transcript |
Het |
| Haus6 |
A |
G |
4: 86,501,415 (GRCm39) |
Y819H |
possibly damaging |
Het |
| Homez |
G |
A |
14: 55,095,531 (GRCm39) |
A59V |
probably damaging |
Het |
| Iffo1 |
T |
C |
6: 125,129,423 (GRCm39) |
V363A |
probably benign |
Het |
| Ifit2 |
T |
A |
19: 34,551,796 (GRCm39) |
D445E |
probably benign |
Het |
| Ipo9 |
A |
C |
1: 135,317,344 (GRCm39) |
|
probably benign |
Het |
| Kcnv1 |
C |
T |
15: 44,976,640 (GRCm39) |
G216R |
probably damaging |
Het |
| Kdm6b |
A |
C |
11: 69,292,730 (GRCm39) |
|
probably benign |
Het |
| Mplkip |
T |
C |
13: 17,870,304 (GRCm39) |
S79P |
probably damaging |
Het |
| Nae1 |
T |
C |
8: 105,249,776 (GRCm39) |
|
probably benign |
Het |
| Nfe2l2 |
A |
T |
2: 75,506,353 (GRCm39) |
N582K |
possibly damaging |
Het |
| Nsmce4a |
G |
A |
7: 130,138,754 (GRCm39) |
R297C |
probably damaging |
Het |
| Or1e1f |
T |
C |
11: 73,855,632 (GRCm39) |
L66P |
probably damaging |
Het |
| Or3a1d |
T |
A |
11: 74,238,068 (GRCm39) |
D114V |
probably damaging |
Het |
| Or5p70 |
A |
T |
7: 107,994,909 (GRCm39) |
D194V |
probably damaging |
Het |
| Osbp |
T |
A |
19: 11,955,654 (GRCm39) |
F357I |
probably damaging |
Het |
| Pcdhb4 |
A |
G |
18: 37,442,979 (GRCm39) |
D763G |
possibly damaging |
Het |
| Pcdhgb2 |
A |
C |
18: 37,824,103 (GRCm39) |
I365L |
possibly damaging |
Het |
| Pde6g |
A |
G |
11: 120,338,912 (GRCm39) |
|
probably benign |
Het |
| Pigo |
C |
A |
4: 43,020,675 (GRCm39) |
V756L |
possibly damaging |
Het |
| Pkhd1 |
G |
T |
1: 20,345,865 (GRCm39) |
T2721K |
probably benign |
Het |
| Pls1 |
A |
T |
9: 95,658,675 (GRCm39) |
|
probably null |
Het |
| Prim2 |
A |
G |
1: 33,519,397 (GRCm39) |
|
probably benign |
Het |
| Prkd2 |
T |
A |
7: 16,589,711 (GRCm39) |
I471N |
probably benign |
Het |
| Prrc2b |
C |
T |
2: 32,096,408 (GRCm39) |
T593I |
probably benign |
Het |
| Ptch2 |
C |
A |
4: 116,963,335 (GRCm39) |
|
probably benign |
Het |
| Pth |
A |
T |
7: 112,985,051 (GRCm39) |
D107E |
probably damaging |
Het |
| Pycr2 |
A |
C |
1: 180,735,188 (GRCm39) |
Q315P |
probably benign |
Het |
| Rbpj |
A |
T |
5: 53,806,782 (GRCm39) |
Y209F |
probably damaging |
Het |
| Ripk4 |
C |
A |
16: 97,544,967 (GRCm39) |
R560L |
probably damaging |
Het |
| Sdr42e1 |
T |
C |
8: 118,390,021 (GRCm39) |
R207G |
probably benign |
Het |
| Sipa1l1 |
A |
G |
12: 82,388,362 (GRCm39) |
Y196C |
possibly damaging |
Het |
| Smarcc2 |
T |
C |
10: 128,316,875 (GRCm39) |
|
probably null |
Het |
| Stom |
T |
A |
2: 35,226,889 (GRCm39) |
I15F |
probably benign |
Het |
| Sugp2 |
G |
T |
8: 70,695,925 (GRCm39) |
L299F |
probably benign |
Het |
| Tbrg4 |
A |
T |
11: 6,567,516 (GRCm39) |
|
probably null |
Het |
| Tkt |
G |
T |
14: 30,287,635 (GRCm39) |
G210C |
probably damaging |
Het |
| Tmem163 |
G |
A |
1: 127,419,289 (GRCm39) |
|
probably benign |
Het |
| Trip12 |
A |
G |
1: 84,771,854 (GRCm39) |
I98T |
probably benign |
Het |
| Unc5b |
A |
G |
10: 60,610,419 (GRCm39) |
I466T |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,037,010 (GRCm39) |
F599L |
probably damaging |
Het |
| Vav1 |
G |
A |
17: 57,604,122 (GRCm39) |
E151K |
probably damaging |
Het |
| Vcan |
T |
G |
13: 89,840,651 (GRCm39) |
D1631A |
probably benign |
Het |
| Zfp619 |
A |
G |
7: 39,186,642 (GRCm39) |
T891A |
possibly damaging |
Het |
| Zfp672 |
A |
G |
11: 58,220,527 (GRCm39) |
|
probably benign |
Het |
| Znhit1 |
T |
A |
5: 137,011,235 (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 |
|
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'- GCAGTGGAACTCTTTACTGCATC -3'
(R):5'- GTCTACAGTAGGATGTGAGGGC -3'
Sequencing Primer
(F):5'- GTGGAACTCTTTACTGCATCAACAGC -3'
(R):5'- AGGGATCCCTGTTCACCTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation