Incidental Mutation 'R3418:Vmn2r2'
| ID |
266884 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r2
|
| Ensembl Gene |
ENSMUSG00000043897 |
| Gene Name |
vomeronasal 2, receptor 2 |
| Synonyms |
|
| MMRRC Submission |
040636-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R3418 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
64022699-64049349 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 64024320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 754
(F754I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135110
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077958]
[ENSMUST00000177151]
|
| AlphaFold |
L7N2E9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077958
AA Change: F670I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000077109
Gene: ENSMUSG00000043897
AA Change: F670I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
1 |
416 |
4.5e-80 |
PFAM |
|
Pfam:NCD3G
|
458 |
511 |
8.3e-18 |
PFAM |
|
Pfam:7tm_3
|
542 |
779 |
1.3e-75 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177151
AA Change: F754I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000135110
Gene: ENSMUSG00000043897
AA Change: F754I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
83 |
500 |
1.6e-84 |
PFAM |
|
Pfam:NCD3G
|
542 |
595 |
2.6e-17 |
PFAM |
|
Pfam:7tm_3
|
628 |
862 |
1.9e-47 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
98% (61/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5530400C23Rik |
A |
G |
6: 133,271,082 (GRCm39) |
Q42R |
probably benign |
Het |
| Acaa1a |
A |
G |
9: 119,178,556 (GRCm39) |
|
probably null |
Het |
| Agbl5 |
T |
C |
5: 31,062,067 (GRCm39) |
S756P |
probably damaging |
Het |
| Armc9 |
T |
C |
1: 86,122,060 (GRCm39) |
L395P |
probably damaging |
Het |
| Cdc16 |
C |
T |
8: 13,819,489 (GRCm39) |
Q362* |
probably null |
Het |
| Cdh5 |
C |
T |
8: 104,856,002 (GRCm39) |
R312C |
probably damaging |
Het |
| Cep170b |
C |
T |
12: 112,704,902 (GRCm39) |
Q887* |
probably null |
Het |
| Chd9 |
T |
C |
8: 91,763,219 (GRCm39) |
I2348T |
probably damaging |
Het |
| Clec9a |
A |
G |
6: 129,398,001 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,731,813 (GRCm39) |
D873G |
probably benign |
Het |
| D130040H23Rik |
T |
C |
8: 69,755,579 (GRCm39) |
I328T |
probably benign |
Het |
| Dido1 |
G |
T |
2: 180,302,728 (GRCm39) |
D1725E |
possibly damaging |
Het |
| Dnajb14 |
A |
G |
3: 137,598,631 (GRCm39) |
D123G |
probably null |
Het |
| Dock2 |
A |
T |
11: 34,580,587 (GRCm39) |
M661K |
probably damaging |
Het |
| Esam |
C |
T |
9: 37,448,426 (GRCm39) |
|
probably null |
Het |
| Fam20c |
A |
T |
5: 138,743,623 (GRCm39) |
N220Y |
probably damaging |
Het |
| Fat2 |
G |
T |
11: 55,169,824 (GRCm39) |
H2978Q |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,162,846 (GRCm39) |
T2147A |
possibly damaging |
Het |
| Fdft1 |
T |
C |
14: 63,394,070 (GRCm39) |
T214A |
probably damaging |
Het |
| Fhl5 |
T |
C |
4: 25,211,252 (GRCm39) |
S147G |
probably benign |
Het |
| Flrt2 |
A |
G |
12: 95,747,378 (GRCm39) |
Y572C |
probably damaging |
Het |
| Gcat |
A |
T |
15: 78,926,297 (GRCm39) |
T56S |
possibly damaging |
Het |
| Gemin5 |
A |
T |
11: 58,047,454 (GRCm39) |
|
probably null |
Het |
| Gm4736 |
A |
T |
6: 132,092,640 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2b |
T |
C |
6: 135,820,108 (GRCm39) |
N368S |
probably benign |
Het |
| Gsto1 |
T |
C |
19: 47,846,344 (GRCm39) |
F64L |
probably benign |
Het |
| Gucy1a1 |
A |
G |
3: 82,013,440 (GRCm39) |
S401P |
probably damaging |
Het |
| Htr1f |
G |
A |
16: 64,746,260 (GRCm39) |
P344L |
probably damaging |
Het |
| Ighv7-3 |
T |
A |
12: 114,116,919 (GRCm39) |
Y81F |
probably damaging |
Het |
| Jakmip3 |
C |
A |
7: 138,619,474 (GRCm39) |
|
probably benign |
Het |
| Kcnj13 |
T |
C |
1: 87,314,641 (GRCm39) |
T194A |
probably benign |
Het |
| Khdrbs3 |
T |
C |
15: 68,921,224 (GRCm39) |
|
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lyn |
A |
T |
4: 3,746,833 (GRCm39) |
I204F |
probably damaging |
Het |
| Mbd6 |
C |
G |
10: 127,122,372 (GRCm39) |
R152P |
probably null |
Het |
| Myof |
A |
G |
19: 37,911,426 (GRCm39) |
S1502P |
probably damaging |
Het |
| Myom2 |
T |
G |
8: 15,135,294 (GRCm39) |
I499S |
probably benign |
Het |
| Nos2 |
T |
A |
11: 78,850,521 (GRCm39) |
F1126L |
possibly damaging |
Het |
| Or3a4 |
G |
A |
11: 73,944,814 (GRCm39) |
T257I |
probably damaging |
Het |
| P2ry1 |
T |
C |
3: 60,911,133 (GRCm39) |
F91L |
probably damaging |
Het |
| Pcdh15 |
C |
A |
10: 74,420,054 (GRCm39) |
D1166E |
probably benign |
Het |
| Pou6f1 |
C |
A |
15: 100,478,805 (GRCm39) |
V368L |
probably benign |
Het |
| Ptcd3 |
A |
T |
6: 71,860,470 (GRCm39) |
I579K |
possibly damaging |
Het |
| Rbm45 |
A |
G |
2: 76,209,362 (GRCm39) |
E392G |
probably damaging |
Het |
| Rnf168 |
A |
G |
16: 32,118,010 (GRCm39) |
N524D |
probably benign |
Het |
| Rnf222 |
G |
T |
11: 68,783,982 (GRCm39) |
R183L |
probably damaging |
Het |
| Robo1 |
C |
T |
16: 72,832,805 (GRCm39) |
T1526I |
probably benign |
Het |
| Sel1l |
A |
G |
12: 91,776,776 (GRCm39) |
W689R |
probably damaging |
Het |
| Serpinb13 |
T |
C |
1: 106,926,657 (GRCm39) |
S218P |
probably damaging |
Het |
| Serpini1 |
A |
G |
3: 75,547,589 (GRCm39) |
Y367C |
probably damaging |
Het |
| Slc13a2 |
A |
G |
11: 78,291,666 (GRCm39) |
F329S |
probably benign |
Het |
| Smc2 |
T |
C |
4: 52,476,850 (GRCm39) |
|
probably benign |
Het |
| Sycp2 |
A |
T |
2: 178,043,446 (GRCm39) |
|
probably benign |
Het |
| Tab2 |
G |
A |
10: 7,783,245 (GRCm39) |
P679L |
probably damaging |
Het |
| Tdrd1 |
T |
A |
19: 56,819,663 (GRCm39) |
N54K |
possibly damaging |
Het |
| Tgfbr2 |
T |
C |
9: 115,958,901 (GRCm39) |
Y146C |
probably damaging |
Het |
| Tnfrsf11a |
A |
G |
1: 105,737,130 (GRCm39) |
D79G |
possibly damaging |
Het |
| Trpa1 |
T |
C |
1: 14,944,605 (GRCm39) |
I1046M |
probably benign |
Het |
| Ubn1 |
A |
G |
16: 4,892,243 (GRCm39) |
|
probably benign |
Het |
| Ubp1 |
T |
C |
9: 113,780,754 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Vmn2r2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00326:Vmn2r2
|
APN |
3 |
64,041,319 (GRCm39) |
splice site |
probably benign |
|
|
IGL00980:Vmn2r2
|
APN |
3 |
64,024,601 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01389:Vmn2r2
|
APN |
3 |
64,024,430 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01804:Vmn2r2
|
APN |
3 |
64,041,677 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02750:Vmn2r2
|
APN |
3 |
64,024,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02829:Vmn2r2
|
APN |
3 |
64,026,172 (GRCm39) |
splice site |
probably benign |
|
|
IGL03036:Vmn2r2
|
APN |
3 |
64,024,321 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03174:Vmn2r2
|
APN |
3 |
64,024,544 (GRCm39) |
nonsense |
probably null |
|
|
PIT4151001:Vmn2r2
|
UTSW |
3 |
64,024,334 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0029:Vmn2r2
|
UTSW |
3 |
64,024,365 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0310:Vmn2r2
|
UTSW |
3 |
64,042,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0357:Vmn2r2
|
UTSW |
3 |
64,041,320 (GRCm39) |
splice site |
probably null |
|
|
R0637:Vmn2r2
|
UTSW |
3 |
64,033,999 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1626:Vmn2r2
|
UTSW |
3 |
64,041,921 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1662:Vmn2r2
|
UTSW |
3 |
64,024,551 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1710:Vmn2r2
|
UTSW |
3 |
64,024,820 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1797:Vmn2r2
|
UTSW |
3 |
64,042,128 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1862:Vmn2r2
|
UTSW |
3 |
64,041,942 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1971:Vmn2r2
|
UTSW |
3 |
64,034,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2051:Vmn2r2
|
UTSW |
3 |
64,024,766 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2099:Vmn2r2
|
UTSW |
3 |
64,024,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2275:Vmn2r2
|
UTSW |
3 |
64,023,930 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3078:Vmn2r2
|
UTSW |
3 |
64,042,053 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3419:Vmn2r2
|
UTSW |
3 |
64,024,320 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3959:Vmn2r2
|
UTSW |
3 |
64,047,947 (GRCm39) |
missense |
probably benign |
|
|
R4230:Vmn2r2
|
UTSW |
3 |
64,041,912 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4258:Vmn2r2
|
UTSW |
3 |
64,042,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4810:Vmn2r2
|
UTSW |
3 |
64,044,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4822:Vmn2r2
|
UTSW |
3 |
64,041,960 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4919:Vmn2r2
|
UTSW |
3 |
64,024,578 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4925:Vmn2r2
|
UTSW |
3 |
64,044,892 (GRCm39) |
start codon destroyed |
probably null |
0.03 |
|
R4954:Vmn2r2
|
UTSW |
3 |
64,047,905 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5071:Vmn2r2
|
UTSW |
3 |
64,024,321 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5315:Vmn2r2
|
UTSW |
3 |
64,024,377 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5450:Vmn2r2
|
UTSW |
3 |
64,034,011 (GRCm39) |
missense |
probably benign |
|
|
R5577:Vmn2r2
|
UTSW |
3 |
64,024,416 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5595:Vmn2r2
|
UTSW |
3 |
64,034,036 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5727:Vmn2r2
|
UTSW |
3 |
64,024,608 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5810:Vmn2r2
|
UTSW |
3 |
64,024,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5919:Vmn2r2
|
UTSW |
3 |
64,044,723 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6052:Vmn2r2
|
UTSW |
3 |
64,024,782 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6084:Vmn2r2
|
UTSW |
3 |
64,024,467 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6299:Vmn2r2
|
UTSW |
3 |
64,024,074 (GRCm39) |
nonsense |
probably null |
|
|
R6762:Vmn2r2
|
UTSW |
3 |
64,041,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6858:Vmn2r2
|
UTSW |
3 |
64,044,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6889:Vmn2r2
|
UTSW |
3 |
64,024,688 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6990:Vmn2r2
|
UTSW |
3 |
64,024,608 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7195:Vmn2r2
|
UTSW |
3 |
64,023,900 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7269:Vmn2r2
|
UTSW |
3 |
64,033,998 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7699:Vmn2r2
|
UTSW |
3 |
64,024,536 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7717:Vmn2r2
|
UTSW |
3 |
64,042,019 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7798:Vmn2r2
|
UTSW |
3 |
64,041,518 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7914:Vmn2r2
|
UTSW |
3 |
64,041,526 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7974:Vmn2r2
|
UTSW |
3 |
64,024,808 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8394:Vmn2r2
|
UTSW |
3 |
64,044,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8478:Vmn2r2
|
UTSW |
3 |
64,024,257 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8731:Vmn2r2
|
UTSW |
3 |
64,024,404 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9035:Vmn2r2
|
UTSW |
3 |
64,024,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9182:Vmn2r2
|
UTSW |
3 |
64,044,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9225:Vmn2r2
|
UTSW |
3 |
64,034,021 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9266:Vmn2r2
|
UTSW |
3 |
64,024,057 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9427:Vmn2r2
|
UTSW |
3 |
64,041,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9659:Vmn2r2
|
UTSW |
3 |
64,041,942 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9666:Vmn2r2
|
UTSW |
3 |
64,023,870 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9771:Vmn2r2
|
UTSW |
3 |
64,042,079 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9788:Vmn2r2
|
UTSW |
3 |
64,041,942 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
X0024:Vmn2r2
|
UTSW |
3 |
64,044,707 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTTTGGTGCTCAAGTAAGC -3'
(R):5'- ACTCTGGCACTCGGCTTTTG -3'
Sequencing Primer
(F):5'- GCATTCCAAAAGTGATACATTTCCC -3'
(R):5'- GCCTTTGTCTGTCTTCCATTCTTGG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation