Incidental Mutation 'R6207:Vmn2r4'
ID |
503177 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r4
|
Ensembl Gene |
ENSMUSG00000092049 |
Gene Name |
vomeronasal 2, receptor 4 |
Synonyms |
EG637053 |
MMRRC Submission |
044341-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R6207 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
64295982-64322741 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 64313926 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 352
(H352Y)
|
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: H263Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000127513 Gene: ENSMUSG00000092049 AA Change: H263Y
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: H352Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000135228 Gene: ENSMUSG00000092049 AA Change: H352Y
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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930451I11Rik |
G |
A |
7: 126,430,065 (GRCm39) |
P69S |
probably damaging |
Het |
Abca15 |
A |
G |
7: 119,973,017 (GRCm39) |
R864G |
probably benign |
Het |
Acbd5 |
T |
C |
2: 22,959,490 (GRCm39) |
C15R |
possibly damaging |
Het |
Ahctf1 |
A |
T |
1: 179,604,955 (GRCm39) |
|
probably null |
Het |
Ak3 |
T |
A |
19: 29,000,340 (GRCm39) |
K190N |
probably damaging |
Het |
B4galnt3 |
A |
T |
6: 120,183,575 (GRCm39) |
|
probably null |
Het |
Calcrl |
T |
C |
2: 84,163,874 (GRCm39) |
H439R |
probably benign |
Het |
Casp7 |
T |
A |
19: 56,429,452 (GRCm39) |
D279E |
possibly damaging |
Het |
Cckar |
A |
G |
5: 53,857,186 (GRCm39) |
V337A |
probably benign |
Het |
Cep85l |
T |
C |
10: 53,157,651 (GRCm39) |
Y684C |
probably benign |
Het |
Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Homo |
Commd7 |
T |
C |
2: 153,474,530 (GRCm39) |
N23S |
possibly damaging |
Het |
Cpne9 |
A |
T |
6: 113,271,734 (GRCm39) |
I365F |
possibly damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dot1l |
C |
T |
10: 80,622,277 (GRCm39) |
A831V |
probably benign |
Het |
Entrep1 |
T |
C |
19: 23,950,802 (GRCm39) |
E593G |
probably damaging |
Het |
Epcam |
C |
A |
17: 87,947,864 (GRCm39) |
N111K |
probably damaging |
Het |
Etnk1 |
A |
G |
6: 143,126,524 (GRCm39) |
Q123R |
probably damaging |
Het |
Fam170a |
A |
T |
18: 50,415,017 (GRCm39) |
E221V |
probably damaging |
Het |
Fbl |
T |
C |
7: 27,874,278 (GRCm39) |
S88P |
possibly damaging |
Het |
Fbxo36 |
T |
A |
1: 84,874,251 (GRCm39) |
Y82* |
probably null |
Het |
Fer1l5 |
A |
G |
1: 36,424,241 (GRCm39) |
K285R |
probably damaging |
Het |
Foxn3 |
G |
T |
12: 99,162,569 (GRCm39) |
T444K |
probably damaging |
Het |
Gak |
C |
T |
5: 108,772,895 (GRCm39) |
|
probably null |
Het |
Gprc6a |
T |
C |
10: 51,502,931 (GRCm39) |
I311V |
probably benign |
Het |
Hrg |
T |
C |
16: 22,773,288 (GRCm39) |
|
probably null |
Het |
Htatip2 |
G |
A |
7: 49,420,567 (GRCm39) |
V138I |
probably benign |
Het |
Ighv1-4 |
A |
T |
12: 114,451,142 (GRCm39) |
|
probably benign |
Het |
Kcnq2 |
T |
C |
2: 180,755,026 (GRCm39) |
M174V |
possibly damaging |
Het |
Krt39 |
G |
T |
11: 99,412,041 (GRCm39) |
P15Q |
probably damaging |
Het |
L1td1 |
G |
A |
4: 98,625,655 (GRCm39) |
D617N |
possibly damaging |
Het |
Lgalsl |
T |
A |
11: 20,779,382 (GRCm39) |
K88* |
probably null |
Het |
Lims1 |
A |
T |
10: 58,230,386 (GRCm39) |
K49M |
possibly damaging |
Het |
Man2a1 |
T |
C |
17: 65,020,600 (GRCm39) |
V792A |
probably benign |
Het |
Mcm2 |
G |
T |
6: 88,862,844 (GRCm39) |
D749E |
probably benign |
Het |
Mdga1 |
G |
A |
17: 30,057,491 (GRCm39) |
T775M |
probably damaging |
Het |
Myb |
A |
G |
10: 21,021,221 (GRCm39) |
S403P |
probably benign |
Het |
Nek6 |
T |
C |
2: 38,447,846 (GRCm39) |
S37P |
possibly damaging |
Het |
Or10d1b |
T |
C |
9: 39,613,606 (GRCm39) |
H153R |
probably benign |
Het |
Or14c46 |
A |
C |
7: 85,918,968 (GRCm39) |
F10V |
probably damaging |
Het |
Or52a33 |
A |
G |
7: 103,289,209 (GRCm39) |
V46A |
probably benign |
Het |
Or56b2j |
G |
A |
7: 104,352,818 (GRCm39) |
V15M |
probably damaging |
Het |
Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
Prune2 |
T |
A |
19: 17,095,480 (GRCm39) |
I328N |
probably damaging |
Het |
Psap |
T |
A |
10: 60,136,317 (GRCm39) |
C484S |
probably damaging |
Het |
Pus1 |
T |
C |
5: 110,925,580 (GRCm39) |
D80G |
probably benign |
Het |
Rasa3 |
T |
C |
8: 13,648,251 (GRCm39) |
T138A |
possibly damaging |
Het |
Scaf1 |
G |
T |
7: 44,657,047 (GRCm39) |
|
probably benign |
Het |
Skap1 |
T |
A |
11: 96,594,959 (GRCm39) |
Y143* |
probably null |
Het |
Slc22a20 |
A |
G |
19: 6,035,969 (GRCm39) |
L67P |
probably damaging |
Het |
Slc25a17 |
T |
C |
15: 81,213,265 (GRCm39) |
Y146C |
probably damaging |
Het |
Slfn4 |
C |
T |
11: 83,079,951 (GRCm39) |
T154I |
possibly damaging |
Het |
Snai1 |
T |
A |
2: 167,380,229 (GRCm39) |
V7D |
probably damaging |
Het |
Snrnp200 |
T |
A |
2: 127,052,655 (GRCm39) |
M84K |
probably benign |
Het |
Spop |
G |
T |
11: 95,362,063 (GRCm39) |
K31N |
possibly damaging |
Het |
Surf1 |
T |
C |
2: 26,804,819 (GRCm39) |
T145A |
probably benign |
Het |
Tbkbp1 |
T |
C |
11: 97,037,165 (GRCm39) |
E278G |
probably damaging |
Het |
Thumpd2 |
G |
A |
17: 81,363,266 (GRCm39) |
A67V |
probably damaging |
Het |
Timd4 |
A |
T |
11: 46,706,353 (GRCm39) |
M52L |
probably damaging |
Het |
Trav16 |
A |
T |
14: 53,981,045 (GRCm39) |
N78I |
probably damaging |
Het |
Tspan12 |
T |
C |
6: 21,799,907 (GRCm39) |
T147A |
probably damaging |
Het |
Tulp1 |
A |
T |
17: 28,577,651 (GRCm39) |
|
probably benign |
Het |
Ubqlnl |
A |
T |
7: 103,797,915 (GRCm39) |
N527K |
possibly damaging |
Het |
Ubr4 |
G |
A |
4: 139,148,559 (GRCm39) |
C1681Y |
probably damaging |
Het |
Unc13c |
T |
C |
9: 73,665,910 (GRCm39) |
K1037E |
possibly damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vmn2r61 |
A |
T |
7: 41,909,616 (GRCm39) |
H47L |
probably benign |
Het |
Vwa5a |
A |
G |
9: 38,633,968 (GRCm39) |
E57G |
probably damaging |
Het |
Zfp180 |
A |
T |
7: 23,804,510 (GRCm39) |
R310* |
probably null |
Het |
Zfp672 |
T |
C |
11: 58,208,349 (GRCm39) |
|
probably benign |
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 |
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 |
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'- TTCTCCTCTCCAGTGCAGAG -3'
(R):5'- CCACTGCCAAAGTCATTGTG -3'
Sequencing Primer
(F):5'- GCTGATCAGACATGTCATACAGTCTG -3'
(R):5'- TTATGCAACTGACATTGACCTCAGC -3'
|
Posted On |
2018-02-27 |