Incidental Mutation 'R9344:Vmn2r54'
| ID |
707677 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r54
|
| Ensembl Gene |
ENSMUSG00000096593 |
| Gene Name |
vomeronasal 2, receptor 54 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R9344 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
12349160-12374167 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12366283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 217
(V217A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083386
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086210]
|
| AlphaFold |
A0A3B2W422 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086210
AA Change: V217A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000083386
Gene: ENSMUSG00000096593
AA Change: V217A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
5 |
397 |
4.3e-58 |
PFAM |
|
Pfam:NCD3G
|
442 |
495 |
2.2e-19 |
PFAM |
|
Pfam:7tm_3
|
526 |
763 |
1.2e-54 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930453N24Rik |
A |
G |
16: 64,591,135 (GRCm39) |
V31A |
possibly damaging |
Het |
| Adss2 |
A |
G |
1: 177,597,527 (GRCm39) |
Y378H |
probably damaging |
Het |
| Aldh1a1 |
T |
A |
19: 20,608,150 (GRCm39) |
V324D |
probably damaging |
Het |
| Ankrd33b |
A |
G |
15: 31,297,903 (GRCm39) |
S285P |
probably damaging |
Het |
| Arel1 |
C |
T |
12: 84,981,371 (GRCm39) |
G269S |
probably damaging |
Het |
| Arhgap44 |
A |
G |
11: 65,053,463 (GRCm39) |
M1T |
probably null |
Het |
| Arpin |
C |
T |
7: 79,577,983 (GRCm39) |
V149I |
probably benign |
Het |
| Arpp21 |
A |
G |
9: 112,014,720 (GRCm39) |
L28P |
possibly damaging |
Het |
| Ccr8 |
G |
A |
9: 119,923,133 (GRCm39) |
V83I |
probably damaging |
Het |
| Cnksr1 |
T |
C |
4: 133,963,508 (GRCm39) |
E58G |
probably damaging |
Het |
| Dctn2 |
T |
A |
10: 127,114,084 (GRCm39) |
H341Q |
probably damaging |
Het |
| Ddx21 |
C |
A |
10: 62,428,825 (GRCm39) |
A362S |
possibly damaging |
Het |
| Dnajc1 |
C |
T |
2: 18,289,586 (GRCm39) |
V274I |
probably benign |
Het |
| Dock3 |
A |
C |
9: 106,870,763 (GRCm39) |
C550W |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,220,676 (GRCm39) |
L2160S |
probably damaging |
Het |
| Duox1 |
T |
A |
2: 122,168,163 (GRCm39) |
M1096K |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,148,659 (GRCm39) |
D928E |
probably benign |
Het |
| E030025P04Rik |
C |
T |
11: 109,030,454 (GRCm39) |
|
probably null |
Het |
| Eid2b |
T |
C |
7: 27,977,591 (GRCm39) |
M129T |
possibly damaging |
Het |
| Fnip2 |
G |
A |
3: 79,407,717 (GRCm39) |
S288F |
possibly damaging |
Het |
| Grm4 |
G |
T |
17: 27,653,737 (GRCm39) |
R738S |
probably benign |
Het |
| Gsto2 |
A |
G |
19: 47,864,884 (GRCm39) |
D139G |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,772,112 (GRCm39) |
V1097E |
probably benign |
Het |
| Impg1 |
G |
A |
9: 80,312,040 (GRCm39) |
A181V |
probably benign |
Het |
| Irs2 |
G |
T |
8: 11,057,289 (GRCm39) |
S381* |
probably null |
Het |
| Itprid1 |
C |
T |
6: 55,955,470 (GRCm39) |
T1026I |
probably benign |
Het |
| Lrrd1 |
A |
C |
5: 3,908,819 (GRCm39) |
D697A |
possibly damaging |
Het |
| Nat10 |
A |
G |
2: 103,573,460 (GRCm39) |
S346P |
probably damaging |
Het |
| Ncapg2 |
G |
A |
12: 116,388,273 (GRCm39) |
R319H |
probably damaging |
Het |
| Nid1 |
A |
G |
13: 13,652,894 (GRCm39) |
Y568C |
probably damaging |
Het |
| Noc2l |
G |
A |
4: 156,325,130 (GRCm39) |
C325Y |
probably damaging |
Het |
| Or12e9 |
A |
T |
2: 87,202,161 (GRCm39) |
D95V |
possibly damaging |
Het |
| Or1e17 |
C |
A |
11: 73,831,744 (GRCm39) |
S224Y |
possibly damaging |
Het |
| Pde2a |
G |
T |
7: 101,144,891 (GRCm39) |
V169F |
possibly damaging |
Het |
| Pon3 |
T |
C |
6: 5,221,586 (GRCm39) |
K348R |
probably benign |
Het |
| Ppp6c |
A |
G |
2: 39,090,052 (GRCm39) |
|
probably null |
Het |
| Prrc2b |
G |
A |
2: 32,103,600 (GRCm39) |
G1026D |
probably benign |
Het |
| Psg22 |
A |
T |
7: 18,460,816 (GRCm39) |
T482S |
possibly damaging |
Het |
| Rdh19 |
G |
A |
10: 127,692,740 (GRCm39) |
V136M |
probably damaging |
Het |
| Sbf2 |
T |
A |
7: 109,940,535 (GRCm39) |
N1275I |
probably benign |
Het |
| Sema4c |
T |
C |
1: 36,592,395 (GRCm39) |
N182D |
probably damaging |
Het |
| Slc7a12 |
T |
A |
3: 14,570,491 (GRCm39) |
H414Q |
probably damaging |
Het |
| Slitrk5 |
A |
G |
14: 111,916,702 (GRCm39) |
I109V |
probably damaging |
Het |
| Spag17 |
C |
T |
3: 100,010,793 (GRCm39) |
P2096S |
probably benign |
Het |
| Steap1 |
T |
A |
5: 5,786,459 (GRCm39) |
D326V |
probably damaging |
Het |
| Tacr1 |
C |
T |
6: 82,380,847 (GRCm39) |
T86I |
probably damaging |
Het |
| Tenm4 |
C |
T |
7: 96,545,352 (GRCm39) |
T2493I |
probably damaging |
Het |
| Tet2 |
A |
G |
3: 133,175,115 (GRCm39) |
S1411P |
possibly damaging |
Het |
| Tom1 |
C |
T |
8: 75,785,076 (GRCm39) |
R303C |
probably damaging |
Het |
| Trav7n-4 |
T |
A |
14: 53,329,200 (GRCm39) |
I70N |
possibly damaging |
Het |
| Utrn |
A |
C |
10: 12,560,275 (GRCm39) |
V1338G |
probably benign |
Het |
| Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
| Vmn1r122 |
A |
T |
7: 20,867,271 (GRCm39) |
H261Q |
probably benign |
Het |
| Vmn1r40 |
G |
T |
6: 89,691,235 (GRCm39) |
L17F |
probably benign |
Het |
| Vmn2r55 |
C |
A |
7: 12,385,782 (GRCm39) |
G733* |
probably null |
Het |
| Vmn2r98 |
A |
T |
17: 19,286,777 (GRCm39) |
N425I |
probably benign |
Het |
| Vps51 |
C |
T |
19: 6,126,345 (GRCm39) |
V136I |
unknown |
Het |
| Zfp184 |
T |
C |
13: 22,144,411 (GRCm39) |
C706R |
probably damaging |
Het |
|
| Other mutations in Vmn2r54 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00155:Vmn2r54
|
APN |
7 |
12,365,840 (GRCm39) |
splice site |
probably benign |
|
|
IGL01778:Vmn2r54
|
APN |
7 |
12,366,009 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01998:Vmn2r54
|
APN |
7 |
12,349,227 (GRCm39) |
missense |
probably benign |
|
|
IGL02028:Vmn2r54
|
APN |
7 |
12,366,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02064:Vmn2r54
|
APN |
7 |
12,349,533 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02238:Vmn2r54
|
APN |
7 |
12,369,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03062:Vmn2r54
|
APN |
7 |
12,366,355 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03120:Vmn2r54
|
APN |
7 |
12,349,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4453001:Vmn2r54
|
UTSW |
7 |
12,363,669 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0212:Vmn2r54
|
UTSW |
7 |
12,366,424 (GRCm39) |
missense |
probably benign |
|
|
R0360:Vmn2r54
|
UTSW |
7 |
12,349,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1646:Vmn2r54
|
UTSW |
7 |
12,366,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1673:Vmn2r54
|
UTSW |
7 |
12,350,138 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1738:Vmn2r54
|
UTSW |
7 |
12,369,815 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1856:Vmn2r54
|
UTSW |
7 |
12,366,238 (GRCm39) |
missense |
probably benign |
|
|
R2012:Vmn2r54
|
UTSW |
7 |
12,349,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2038:Vmn2r54
|
UTSW |
7 |
12,363,637 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2160:Vmn2r54
|
UTSW |
7 |
12,349,420 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2397:Vmn2r54
|
UTSW |
7 |
12,349,578 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2430:Vmn2r54
|
UTSW |
7 |
12,365,933 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2829:Vmn2r54
|
UTSW |
7 |
12,349,617 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R2975:Vmn2r54
|
UTSW |
7 |
12,369,919 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3005:Vmn2r54
|
UTSW |
7 |
12,349,221 (GRCm39) |
missense |
probably benign |
0.28 |
|
R3725:Vmn2r54
|
UTSW |
7 |
12,366,223 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4486:Vmn2r54
|
UTSW |
7 |
12,366,199 (GRCm39) |
nonsense |
probably null |
|
|
R4881:Vmn2r54
|
UTSW |
7 |
12,363,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4907:Vmn2r54
|
UTSW |
7 |
12,350,150 (GRCm39) |
splice site |
probably null |
|
|
R5536:Vmn2r54
|
UTSW |
7 |
12,366,343 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5637:Vmn2r54
|
UTSW |
7 |
12,349,296 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5703:Vmn2r54
|
UTSW |
7 |
12,363,594 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5769:Vmn2r54
|
UTSW |
7 |
12,349,209 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5972:Vmn2r54
|
UTSW |
7 |
12,369,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5972:Vmn2r54
|
UTSW |
7 |
12,349,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5977:Vmn2r54
|
UTSW |
7 |
12,366,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6084:Vmn2r54
|
UTSW |
7 |
12,366,205 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6176:Vmn2r54
|
UTSW |
7 |
12,349,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6229:Vmn2r54
|
UTSW |
7 |
12,365,883 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6371:Vmn2r54
|
UTSW |
7 |
12,349,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6374:Vmn2r54
|
UTSW |
7 |
12,349,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6804:Vmn2r54
|
UTSW |
7 |
12,363,792 (GRCm39) |
missense |
probably benign |
|
|
R6886:Vmn2r54
|
UTSW |
7 |
12,366,080 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7041:Vmn2r54
|
UTSW |
7 |
12,363,751 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7058:Vmn2r54
|
UTSW |
7 |
12,349,722 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7113:Vmn2r54
|
UTSW |
7 |
12,350,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7124:Vmn2r54
|
UTSW |
7 |
12,356,078 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7126:Vmn2r54
|
UTSW |
7 |
12,366,088 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7236:Vmn2r54
|
UTSW |
7 |
12,365,917 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7337:Vmn2r54
|
UTSW |
7 |
12,356,044 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7406:Vmn2r54
|
UTSW |
7 |
12,350,150 (GRCm39) |
splice site |
probably null |
|
|
R7634:Vmn2r54
|
UTSW |
7 |
12,349,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7793:Vmn2r54
|
UTSW |
7 |
12,366,196 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8139:Vmn2r54
|
UTSW |
7 |
12,349,743 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8158:Vmn2r54
|
UTSW |
7 |
12,349,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8179:Vmn2r54
|
UTSW |
7 |
12,366,018 (GRCm39) |
nonsense |
probably null |
|
|
R8440:Vmn2r54
|
UTSW |
7 |
12,350,013 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8712:Vmn2r54
|
UTSW |
7 |
12,369,877 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8853:Vmn2r54
|
UTSW |
7 |
12,349,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8859:Vmn2r54
|
UTSW |
7 |
12,363,702 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9146:Vmn2r54
|
UTSW |
7 |
12,366,647 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9157:Vmn2r54
|
UTSW |
7 |
12,366,055 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9423:Vmn2r54
|
UTSW |
7 |
12,349,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9534:Vmn2r54
|
UTSW |
7 |
12,366,093 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9632:Vmn2r54
|
UTSW |
7 |
12,363,753 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9661:Vmn2r54
|
UTSW |
7 |
12,349,166 (GRCm39) |
missense |
probably benign |
|
|
R9710:Vmn2r54
|
UTSW |
7 |
12,363,753 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
U24488:Vmn2r54
|
UTSW |
7 |
12,349,356 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
X0066:Vmn2r54
|
UTSW |
7 |
12,349,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Vmn2r54
|
UTSW |
7 |
12,366,035 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACATGTCTTCTGGGGTCTG -3'
(R):5'- AAGATGATGACTTTGGGCAGC -3'
Sequencing Primer
(F):5'- CTTCTGGGGTCTGGCTGG -3'
(R):5'- TCTCTGGCCACTCAGCAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation