Incidental Mutation 'R7633:Vmn2r57'
| ID |
589756 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r57
|
| Ensembl Gene |
ENSMUSG00000066537 |
| Gene Name |
vomeronasal 2, receptor 57 |
| Synonyms |
EG269902 |
| MMRRC Submission |
045721-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R7633 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
41399732-41448641 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 41425089 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 517
(V517M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125817
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094532]
[ENSMUST00000165029]
|
| AlphaFold |
L7N269 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094532
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165029
AA Change: V517M
PolyPhen 2
Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000125817
Gene: ENSMUSG00000066537
AA Change: V517M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
77 |
471 |
1.4e-44 |
PFAM |
|
Pfam:NCD3G
|
514 |
567 |
2.7e-23 |
PFAM |
|
Pfam:7tm_3
|
600 |
835 |
1.8e-52 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930504O13Rik |
C |
A |
11: 58,447,478 (GRCm38) |
M29I |
probably benign |
Het |
| A530084C06Rik |
G |
T |
13: 31,558,995 (GRCm38) |
R92S |
unknown |
Het |
| Acaca |
A |
G |
11: 84,372,639 (GRCm38) |
I2029V |
probably benign |
Het |
| Anks1b |
A |
C |
10: 90,948,584 (GRCm38) |
D1138A |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,947,118 (GRCm38) |
V2508E |
probably damaging |
Het |
| C4b |
C |
T |
17: 34,729,399 (GRCm38) |
|
probably null |
Het |
| C530008M17Rik |
A |
G |
5: 76,857,520 (GRCm38) |
E576G |
unknown |
Het |
| Cd46 |
A |
T |
1: 195,083,619 (GRCm38) |
M146K |
probably null |
Het |
| Chp1 |
A |
G |
2: 119,560,745 (GRCm38) |
I28V |
probably benign |
Het |
| Chrnb1 |
T |
A |
11: 69,792,873 (GRCm38) |
R216W |
probably damaging |
Het |
| Clmn |
G |
A |
12: 104,782,112 (GRCm38) |
T392M |
probably benign |
Het |
| Dcxr |
A |
C |
11: 120,726,453 (GRCm38) |
L88R |
probably benign |
Het |
| Dedd |
C |
T |
1: 171,338,910 (GRCm38) |
P138L |
probably benign |
Het |
| Degs1 |
A |
G |
1: 182,279,698 (GRCm38) |
S35P |
probably damaging |
Het |
| Ehmt1 |
T |
C |
2: 24,815,780 (GRCm38) |
D851G |
possibly damaging |
Het |
| Fam117b |
A |
G |
1: 59,981,534 (GRCm38) |
D521G |
probably damaging |
Het |
| Fam26d |
G |
A |
10: 34,043,908 (GRCm38) |
T121M |
possibly damaging |
Het |
| Gm14085 |
A |
T |
2: 122,486,680 (GRCm38) |
R7S |
probably null |
Het |
| Gm21731 |
G |
A |
13: 120,240,840 (GRCm38) |
W57* |
probably null |
Het |
| Gm6882 |
A |
G |
7: 21,427,652 (GRCm38) |
V97A |
probably damaging |
Het |
| Hgs |
A |
T |
11: 120,474,302 (GRCm38) |
Q172L |
probably damaging |
Het |
| Hormad2 |
T |
C |
11: 4,346,662 (GRCm38) |
Q274R |
probably benign |
Het |
| Igkv8-19 |
C |
T |
6: 70,341,399 (GRCm38) |
|
probably benign |
Het |
| Ikbkb |
T |
C |
8: 22,671,741 (GRCm38) |
N377S |
probably benign |
Het |
| Intu |
G |
A |
3: 40,654,253 (GRCm38) |
G232S |
probably damaging |
Het |
| Mov10 |
A |
G |
3: 104,797,065 (GRCm38) |
S806P |
possibly damaging |
Het |
| Mrgprb1 |
A |
G |
7: 48,447,583 (GRCm38) |
F194L |
probably benign |
Het |
| Notch3 |
A |
T |
17: 32,158,622 (GRCm38) |
I160K |
probably benign |
Het |
| Nup155 |
C |
G |
15: 8,109,453 (GRCm38) |
S3W |
probably damaging |
Het |
| Olfr1287 |
A |
G |
2: 111,449,622 (GRCm38) |
I161V |
probably benign |
Het |
| Olfr284 |
A |
G |
15: 98,340,086 (GRCm38) |
I301T |
probably damaging |
Het |
| Plxdc1 |
A |
T |
11: 97,956,151 (GRCm38) |
F147L |
possibly damaging |
Het |
| Ppfia1 |
T |
C |
7: 144,552,436 (GRCm38) |
D33G |
possibly damaging |
Het |
| Prdm11 |
G |
A |
2: 92,980,654 (GRCm38) |
A200V |
probably damaging |
Het |
| Qrich2 |
A |
T |
11: 116,456,629 (GRCm38) |
I1123K |
unknown |
Het |
| Rgs1 |
A |
G |
1: 144,248,477 (GRCm38) |
|
probably null |
Het |
| Skint7 |
T |
A |
4: 111,984,140 (GRCm38) |
V259E |
probably benign |
Het |
| Slc25a3 |
A |
T |
10: 91,118,042 (GRCm38) |
|
probably null |
Het |
| Slco1a6 |
A |
T |
6: 142,145,755 (GRCm38) |
I73N |
probably damaging |
Het |
| Sltm |
C |
G |
9: 70,586,673 (GRCm38) |
P802R |
possibly damaging |
Het |
| Smc4 |
CTA |
CTATA |
3: 69,018,067 (GRCm38) |
|
probably benign |
Het |
| Spock2 |
G |
A |
10: 60,126,180 (GRCm38) |
D206N |
probably damaging |
Het |
| Stard3nl |
T |
G |
13: 19,367,838 (GRCm38) |
R185S |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,197,099 (GRCm38) |
Y18H |
probably benign |
Het |
| Synpo |
G |
A |
18: 60,603,428 (GRCm38) |
T482I |
probably damaging |
Het |
| Tmc6 |
G |
T |
11: 117,769,220 (GRCm38) |
T694K |
probably benign |
Het |
| Trim59 |
T |
A |
3: 69,037,926 (GRCm38) |
H27L |
probably damaging |
Het |
| Trpv2 |
G |
A |
11: 62,591,006 (GRCm38) |
|
probably null |
Het |
| Tyw5 |
A |
T |
1: 57,393,485 (GRCm38) |
D117E |
probably benign |
Het |
| Usp17la |
T |
C |
7: 104,861,147 (GRCm38) |
Y320H |
probably damaging |
Het |
| Usp31 |
T |
C |
7: 121,658,962 (GRCm38) |
D694G |
probably damaging |
Het |
| Vmn1r159 |
T |
A |
7: 22,843,023 (GRCm38) |
T195S |
probably damaging |
Het |
| Yipf1 |
A |
G |
4: 107,318,996 (GRCm38) |
N29S |
probably benign |
Het |
| Zfp954 |
A |
T |
7: 7,115,824 (GRCm38) |
F240L |
possibly damaging |
Het |
|
| Other mutations in Vmn2r57 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00159:Vmn2r57
|
APN |
7 |
41,428,785 (GRCm38) |
missense |
probably benign |
|
|
IGL01108:Vmn2r57
|
APN |
7 |
41,427,584 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01112:Vmn2r57
|
APN |
7 |
41,425,043 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01516:Vmn2r57
|
APN |
7 |
41,399,946 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01880:Vmn2r57
|
APN |
7 |
41,400,195 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
IGL02117:Vmn2r57
|
APN |
7 |
41,400,450 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02500:Vmn2r57
|
APN |
7 |
41,428,226 (GRCm38) |
missense |
probably benign |
|
|
IGL02801:Vmn2r57
|
APN |
7 |
41,448,632 (GRCm38) |
missense |
probably benign |
0.13 |
|
IGL02993:Vmn2r57
|
APN |
7 |
41,428,074 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL02996:Vmn2r57
|
APN |
7 |
41,399,741 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0008:Vmn2r57
|
UTSW |
7 |
41,400,652 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0032:Vmn2r57
|
UTSW |
7 |
41,399,733 (GRCm38) |
splice site |
probably null |
|
|
R0305:Vmn2r57
|
UTSW |
7 |
41,427,543 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0469:Vmn2r57
|
UTSW |
7 |
41,427,792 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R0510:Vmn2r57
|
UTSW |
7 |
41,427,792 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R0847:Vmn2r57
|
UTSW |
7 |
41,428,801 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1025:Vmn2r57
|
UTSW |
7 |
41,427,804 (GRCm38) |
missense |
probably benign |
0.24 |
|
R1081:Vmn2r57
|
UTSW |
7 |
41,428,211 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R1479:Vmn2r57
|
UTSW |
7 |
41,427,830 (GRCm38) |
missense |
possibly damaging |
0.45 |
|
R1579:Vmn2r57
|
UTSW |
7 |
41,400,124 (GRCm38) |
missense |
probably benign |
0.38 |
|
R1764:Vmn2r57
|
UTSW |
7 |
41,400,643 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1848:Vmn2r57
|
UTSW |
7 |
41,428,107 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2006:Vmn2r57
|
UTSW |
7 |
41,448,577 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2197:Vmn2r57
|
UTSW |
7 |
41,428,825 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R2242:Vmn2r57
|
UTSW |
7 |
41,428,074 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2394:Vmn2r57
|
UTSW |
7 |
41,400,195 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R3937:Vmn2r57
|
UTSW |
7 |
41,428,130 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4193:Vmn2r57
|
UTSW |
7 |
41,428,239 (GRCm38) |
missense |
probably benign |
|
|
R4423:Vmn2r57
|
UTSW |
7 |
41,426,640 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4865:Vmn2r57
|
UTSW |
7 |
41,400,468 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4947:Vmn2r57
|
UTSW |
7 |
41,400,495 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5042:Vmn2r57
|
UTSW |
7 |
41,428,662 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5084:Vmn2r57
|
UTSW |
7 |
41,426,550 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5177:Vmn2r57
|
UTSW |
7 |
41,400,240 (GRCm38) |
missense |
probably benign |
0.31 |
|
R5192:Vmn2r57
|
UTSW |
7 |
41,427,939 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5289:Vmn2r57
|
UTSW |
7 |
41,399,974 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5745:Vmn2r57
|
UTSW |
7 |
41,448,471 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R6051:Vmn2r57
|
UTSW |
7 |
41,448,472 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6155:Vmn2r57
|
UTSW |
7 |
41,428,690 (GRCm38) |
missense |
probably benign |
0.14 |
|
R6248:Vmn2r57
|
UTSW |
7 |
41,399,860 (GRCm38) |
missense |
probably benign |
|
|
R6381:Vmn2r57
|
UTSW |
7 |
41,428,818 (GRCm38) |
missense |
probably benign |
0.08 |
|
R7019:Vmn2r57
|
UTSW |
7 |
41,428,665 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7126:Vmn2r57
|
UTSW |
7 |
41,399,794 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7146:Vmn2r57
|
UTSW |
7 |
41,448,471 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R7215:Vmn2r57
|
UTSW |
7 |
41,400,286 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7432:Vmn2r57
|
UTSW |
7 |
41,426,724 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7811:Vmn2r57
|
UTSW |
7 |
41,425,015 (GRCm38) |
nonsense |
probably null |
|
|
R8025:Vmn2r57
|
UTSW |
7 |
41,426,759 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8332:Vmn2r57
|
UTSW |
7 |
41,400,253 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8345:Vmn2r57
|
UTSW |
7 |
41,427,544 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R8360:Vmn2r57
|
UTSW |
7 |
41,400,216 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8738:Vmn2r57
|
UTSW |
7 |
41,427,596 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8758:Vmn2r57
|
UTSW |
7 |
41,428,739 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8955:Vmn2r57
|
UTSW |
7 |
41,400,147 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R8985:Vmn2r57
|
UTSW |
7 |
41,399,835 (GRCm38) |
missense |
probably benign |
|
|
R9108:Vmn2r57
|
UTSW |
7 |
41,428,768 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R9160:Vmn2r57
|
UTSW |
7 |
41,426,735 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R9354:Vmn2r57
|
UTSW |
7 |
41,400,239 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9566:Vmn2r57
|
UTSW |
7 |
41,427,665 (GRCm38) |
missense |
probably benign |
0.32 |
|
R9633:Vmn2r57
|
UTSW |
7 |
41,426,582 (GRCm38) |
missense |
probably benign |
0.00 |
|
X0026:Vmn2r57
|
UTSW |
7 |
41,428,561 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
X0026:Vmn2r57
|
UTSW |
7 |
41,428,125 (GRCm38) |
missense |
probably benign |
0.03 |
|
X0065:Vmn2r57
|
UTSW |
7 |
41,427,971 (GRCm38) |
missense |
probably benign |
0.09 |
|
Z1176:Vmn2r57
|
UTSW |
7 |
41,400,498 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAACTACTGGGCAAGAGCTTATCTC -3'
(R):5'- GCATGGTATTGGGCCAAAATG -3'
Sequencing Primer
(F):5'- GAGCTTATCTCTTACTTATCTCCAGG -3'
(R):5'- CATGGTATTGGGCCAAAATGTAAAC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation