Incidental Mutation 'R7974:Vmn2r2'
| ID |
650760 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r2
|
| Ensembl Gene |
ENSMUSG00000043897 |
| Gene Name |
vomeronasal 2, receptor 2 |
| Synonyms |
|
| MMRRC Submission |
046017-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R7974 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
64022699-64049349 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 64024808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 591
(E591V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135110
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077958]
[ENSMUST00000177151]
|
| AlphaFold |
L7N2E9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077958
AA Change: E507V
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000077109
Gene: ENSMUSG00000043897
AA Change: E507V
| 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 damaging
Transcript: ENSMUST00000177151
AA Change: E591V
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135110
Gene: ENSMUSG00000043897
AA Change: E591V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
C |
T |
19: 57,033,405 (GRCm39) |
|
probably null |
Het |
| Adamts19 |
A |
T |
18: 59,144,094 (GRCm39) |
Q892L |
possibly damaging |
Het |
| Adamts9 |
A |
G |
6: 92,886,668 (GRCm39) |
|
probably null |
Het |
| Aftph |
T |
C |
11: 20,648,233 (GRCm39) |
*686W |
probably null |
Het |
| AI661453 |
T |
C |
17: 47,777,006 (GRCm39) |
L244P |
unknown |
Het |
| Ankar |
C |
A |
1: 72,738,138 (GRCm39) |
E15* |
probably null |
Het |
| Ankrd39 |
A |
G |
1: 36,585,999 (GRCm39) |
|
probably benign |
Het |
| Arsi |
A |
G |
18: 61,045,478 (GRCm39) |
D56G |
probably damaging |
Het |
| Blmh |
T |
C |
11: 76,856,729 (GRCm39) |
I245T |
possibly damaging |
Het |
| Ccr6 |
T |
C |
17: 8,475,056 (GRCm39) |
F87S |
probably damaging |
Het |
| Cdc42ep2 |
T |
C |
19: 5,968,523 (GRCm39) |
K61E |
probably damaging |
Het |
| Celsr1 |
C |
T |
15: 85,915,231 (GRCm39) |
G914D |
probably damaging |
Het |
| Cep126 |
T |
A |
9: 8,120,764 (GRCm39) |
K86N |
probably benign |
Het |
| Cfap70 |
A |
T |
14: 20,470,818 (GRCm39) |
F532I |
probably damaging |
Het |
| Cpsf3 |
T |
A |
12: 21,358,006 (GRCm39) |
L506Q |
probably damaging |
Het |
| Dct |
A |
C |
14: 118,277,067 (GRCm39) |
I273S |
probably damaging |
Het |
| Dsel |
T |
C |
1: 111,788,229 (GRCm39) |
I769V |
probably benign |
Het |
| Dus2 |
G |
A |
8: 106,762,652 (GRCm39) |
E138K |
probably benign |
Het |
| Emsy |
A |
G |
7: 98,279,425 (GRCm39) |
S305P |
possibly damaging |
Het |
| Erp27 |
A |
T |
6: 136,885,063 (GRCm39) |
V245D |
probably damaging |
Het |
| Fez1 |
C |
A |
9: 36,755,244 (GRCm39) |
T81K |
probably damaging |
Het |
| Gli3 |
A |
C |
13: 15,900,841 (GRCm39) |
Q1409H |
probably benign |
Het |
| Hdac9 |
T |
C |
12: 34,353,219 (GRCm39) |
S664G |
possibly damaging |
Het |
| Hibadh |
A |
G |
6: 52,534,880 (GRCm39) |
S167P |
probably benign |
Het |
| Hsdl1 |
A |
G |
8: 120,293,072 (GRCm39) |
V121A |
probably benign |
Het |
| Ift70a1 |
T |
C |
2: 75,810,688 (GRCm39) |
H465R |
probably damaging |
Het |
| Ighv1-18 |
A |
C |
12: 114,646,669 (GRCm39) |
I6S |
possibly damaging |
Het |
| Iqcm |
T |
A |
8: 76,281,520 (GRCm39) |
M1K |
probably null |
Het |
| Itch |
T |
C |
2: 155,034,079 (GRCm39) |
F417S |
probably damaging |
Het |
| Itpr1 |
C |
T |
6: 108,500,366 (GRCm39) |
T2653I |
possibly damaging |
Het |
| Kank1 |
T |
G |
19: 25,401,584 (GRCm39) |
Y1064D |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,505,561 (GRCm39) |
Q3249R |
probably damaging |
Het |
| Lefty1 |
T |
C |
1: 180,765,385 (GRCm39) |
C318R |
probably damaging |
Het |
| Lmbr1l |
C |
T |
15: 98,809,500 (GRCm39) |
V147I |
probably benign |
Het |
| Meig1 |
C |
A |
2: 3,412,911 (GRCm39) |
E37* |
probably null |
Het |
| Mpp3 |
A |
G |
11: 101,899,180 (GRCm39) |
|
probably null |
Het |
| Muc17 |
T |
C |
5: 137,175,664 (GRCm39) |
N2S |
|
Het |
| Mup7 |
T |
C |
4: 60,067,518 (GRCm39) |
E199G |
possibly damaging |
Het |
| Nol4 |
G |
C |
18: 22,852,082 (GRCm39) |
Y275* |
probably null |
Het |
| Nrxn1 |
G |
A |
17: 91,008,207 (GRCm39) |
P429S |
probably damaging |
Het |
| Or14j8 |
T |
C |
17: 38,263,672 (GRCm39) |
Y81C |
probably damaging |
Het |
| Pfkl |
A |
T |
10: 77,829,996 (GRCm39) |
F367L |
probably damaging |
Het |
| Pik3cg |
T |
C |
12: 32,254,031 (GRCm39) |
E652G |
probably benign |
Het |
| Prkag3 |
A |
G |
1: 74,783,980 (GRCm39) |
I301T |
probably benign |
Het |
| Rcn1 |
G |
A |
2: 105,224,055 (GRCm39) |
P163L |
probably benign |
Het |
| Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
| Slc37a2 |
A |
T |
9: 37,150,421 (GRCm39) |
|
probably null |
Het |
| Slc9b1 |
C |
T |
3: 135,099,791 (GRCm39) |
T437I |
possibly damaging |
Het |
| Smap1 |
T |
G |
1: 23,888,522 (GRCm39) |
T248P |
probably benign |
Het |
| Smpd3 |
A |
C |
8: 106,982,254 (GRCm39) |
C617G |
probably benign |
Het |
| Spata20 |
T |
C |
11: 94,374,966 (GRCm39) |
N212S |
possibly damaging |
Het |
| Sphkap |
A |
C |
1: 83,256,683 (GRCm39) |
C355W |
probably damaging |
Het |
| Spopfm2 |
T |
C |
3: 94,082,848 (GRCm39) |
K321R |
probably benign |
Het |
| Spsb1 |
T |
A |
4: 149,991,566 (GRCm39) |
M1L |
probably damaging |
Het |
| Srebf2 |
C |
T |
15: 82,062,966 (GRCm39) |
R468C |
probably damaging |
Het |
| Stxbp5 |
A |
C |
10: 9,646,439 (GRCm39) |
|
probably null |
Het |
| Taar5 |
G |
C |
10: 23,847,120 (GRCm39) |
D173H |
possibly damaging |
Het |
| Tfrc |
A |
G |
16: 32,440,101 (GRCm39) |
D438G |
probably null |
Het |
| Tinag |
A |
T |
9: 76,907,131 (GRCm39) |
I368K |
probably benign |
Het |
| Tm9sf1 |
A |
G |
14: 55,873,906 (GRCm39) |
W531R |
probably damaging |
Het |
| Tnc |
G |
T |
4: 63,918,961 (GRCm39) |
P1154Q |
possibly damaging |
Het |
| Toporsl |
A |
G |
4: 52,611,645 (GRCm39) |
R513G |
probably damaging |
Het |
| Vat1 |
A |
G |
11: 101,356,956 (GRCm39) |
S2P |
probably benign |
Het |
| Vmn2r107 |
C |
G |
17: 20,577,270 (GRCm39) |
P423A |
probably benign |
Het |
| Vmn2r62 |
T |
A |
7: 42,437,281 (GRCm39) |
Y401F |
probably damaging |
Het |
| Vmn2r62 |
G |
A |
7: 42,414,031 (GRCm39) |
T804I |
probably damaging |
Het |
| Vmn2r89 |
A |
T |
14: 51,693,459 (GRCm39) |
I270F |
probably damaging |
Het |
| Zfp418 |
T |
C |
7: 7,185,167 (GRCm39) |
F377L |
possibly damaging |
Het |
| Zkscan5 |
T |
C |
5: 145,144,502 (GRCm39) |
S182P |
unknown |
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 |
|
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 |
|
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'- TGGCTTTCACCAATGGAGTGTG -3'
(R):5'- AGCCCTCGATCTATTACTGCAC -3'
Sequencing Primer
(F):5'- ACCAATGGAGTGTGTCTGTGGATTAC -3'
(R):5'- GTGACAACTGGGTTCCATT -3'
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| Posted On |
2020-09-15 |
Incidental Mutation