Incidental Mutation 'R3419:Vmn2r2'
ID |
266947 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r2
|
Ensembl Gene |
ENSMUSG00000043897 |
Gene Name |
vomeronasal 2, receptor 2 |
Synonyms |
|
MMRRC Submission |
040637-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R3419 (G1)
|
Quality Score |
225 |
Status
|
Not 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: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5530400C23Rik |
A |
G |
6: 133,271,082 (GRCm39) |
Q42R |
probably benign |
Het |
Ankrd26 |
A |
G |
6: 118,512,068 (GRCm39) |
L518P |
probably damaging |
Het |
Armc9 |
T |
C |
1: 86,122,060 (GRCm39) |
L395P |
probably damaging |
Het |
Baz1a |
T |
C |
12: 54,993,684 (GRCm39) |
K181E |
probably benign |
Het |
Bend3 |
T |
C |
10: 43,385,978 (GRCm39) |
S124P |
probably damaging |
Het |
Cdh5 |
C |
T |
8: 104,856,002 (GRCm39) |
R312C |
probably damaging |
Het |
Col6a3 |
T |
C |
1: 90,731,813 (GRCm39) |
D873G |
probably benign |
Het |
Dmbx1 |
G |
C |
4: 115,777,873 (GRCm39) |
R64G |
probably benign |
Het |
Dpy19l2 |
T |
C |
9: 24,492,501 (GRCm39) |
E699G |
probably damaging |
Het |
Dync2i1 |
C |
T |
12: 116,188,597 (GRCm39) |
V666I |
probably benign |
Het |
Eef2k |
T |
A |
7: 120,485,093 (GRCm39) |
M320K |
probably damaging |
Het |
Exoc5 |
A |
T |
14: 49,260,735 (GRCm39) |
N377K |
probably damaging |
Het |
Fam20c |
A |
T |
5: 138,743,623 (GRCm39) |
N220Y |
probably damaging |
Het |
Fchsd2 |
T |
A |
7: 100,927,867 (GRCm39) |
|
probably null |
Het |
Flrt2 |
A |
G |
12: 95,747,378 (GRCm39) |
Y572C |
probably damaging |
Het |
Gm17093 |
A |
G |
14: 44,759,047 (GRCm39) |
I190V |
unknown |
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 |
Hoxd10 |
A |
G |
2: 74,522,921 (GRCm39) |
K200E |
probably benign |
Het |
Kcnj13 |
T |
C |
1: 87,314,641 (GRCm39) |
T194A |
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lacc1 |
T |
G |
14: 77,272,321 (GRCm39) |
E158D |
probably benign |
Het |
Lyn |
A |
T |
4: 3,746,833 (GRCm39) |
I204F |
probably damaging |
Het |
Mapk6 |
T |
C |
9: 75,305,039 (GRCm39) |
E126G |
probably damaging |
Het |
Mbd6 |
C |
G |
10: 127,122,372 (GRCm39) |
R152P |
probably null |
Het |
Or2h1b |
A |
T |
17: 37,462,242 (GRCm39) |
V53E |
probably damaging |
Het |
Or52e15 |
A |
G |
7: 104,645,727 (GRCm39) |
I128T |
probably damaging |
Het |
Or8g17 |
C |
T |
9: 38,930,372 (GRCm39) |
C155Y |
probably benign |
Het |
P2ry1 |
T |
C |
3: 60,911,133 (GRCm39) |
F91L |
probably damaging |
Het |
Paqr3 |
A |
G |
5: 97,247,559 (GRCm39) |
L183P |
probably damaging |
Het |
Pcdh15 |
C |
A |
10: 74,420,054 (GRCm39) |
D1166E |
probably benign |
Het |
Pik3r1 |
T |
C |
13: 101,828,723 (GRCm39) |
D25G |
probably benign |
Het |
Poc5 |
A |
T |
13: 96,540,925 (GRCm39) |
T365S |
possibly damaging |
Het |
Polr3a |
A |
G |
14: 24,517,103 (GRCm39) |
L716P |
probably damaging |
Het |
Ppp1r3a |
A |
T |
6: 14,719,413 (GRCm39) |
D500E |
probably benign |
Het |
Ptcd3 |
A |
T |
6: 71,860,470 (GRCm39) |
I579K |
possibly damaging |
Het |
Rnf168 |
A |
G |
16: 32,118,010 (GRCm39) |
N524D |
probably benign |
Het |
Scn7a |
AT |
ATT |
2: 66,531,239 (GRCm39) |
|
probably null |
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 |
Snrnp48 |
G |
A |
13: 38,405,335 (GRCm39) |
D248N |
possibly damaging |
Het |
St6galnac4 |
A |
G |
2: 32,485,743 (GRCm39) |
T217A |
probably damaging |
Het |
Tdrd1 |
T |
A |
19: 56,819,663 (GRCm39) |
N54K |
possibly damaging |
Het |
Tmem30c |
A |
G |
16: 57,098,031 (GRCm39) |
V130A |
probably benign |
Het |
Trpa1 |
T |
C |
1: 14,944,605 (GRCm39) |
I1046M |
probably benign |
Het |
Tulp2 |
T |
A |
7: 45,168,176 (GRCm39) |
M196K |
possibly damaging |
Het |
Unc5b |
G |
A |
10: 60,614,593 (GRCm39) |
R235W |
probably damaging |
Het |
Vmn1r175 |
A |
T |
7: 23,508,075 (GRCm39) |
M184K |
probably damaging |
Het |
Vmn2r9 |
A |
C |
5: 108,994,299 (GRCm39) |
M450R |
probably damaging |
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 |
R3418: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'- GCCTTTGGTGCTCAAGTAAG -3'
(R):5'- ACTCTGGCACTCGGCTTTTG -3'
Sequencing Primer
(F):5'- GCATTCCAAAAGTGATACATTTCCC -3'
(R):5'- GCCTTTGTCTGTCTTCCATTCTTGG -3'
|
Posted On |
2015-02-18 |