Incidental Mutation 'R7041:Vmn2r54'
ID |
547055 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r54
|
Ensembl Gene |
ENSMUSG00000096593 |
Gene Name |
vomeronasal 2, receptor 54 |
Synonyms |
|
MMRRC Submission |
045140-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.135)
|
Stock # |
R7041 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
12349160-12374167 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 12363751 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 381
(F381I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083386
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086210]
|
AlphaFold |
A0A3B2W422 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086210
AA Change: F381I
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000083386 Gene: ENSMUSG00000096593 AA Change: F381I
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: 99.3%
|
Validation Efficiency |
96% (53/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
G |
T |
7: 78,748,096 (GRCm39) |
E956* |
probably null |
Het |
Adam25 |
A |
T |
8: 41,207,121 (GRCm39) |
H129L |
probably benign |
Het |
Adgrl4 |
A |
T |
3: 151,144,959 (GRCm39) |
H36L |
probably benign |
Het |
Ago1 |
T |
A |
4: 126,357,499 (GRCm39) |
I59F |
possibly damaging |
Het |
Anapc1 |
A |
T |
2: 128,470,576 (GRCm39) |
V1518E |
possibly damaging |
Het |
Atxn1 |
A |
G |
13: 45,720,311 (GRCm39) |
I528T |
probably damaging |
Het |
B4galnt4 |
A |
G |
7: 140,650,593 (GRCm39) |
H820R |
probably damaging |
Het |
Cacna1h |
T |
C |
17: 25,612,977 (GRCm39) |
E282G |
probably damaging |
Het |
Camk1 |
T |
A |
6: 113,316,475 (GRCm39) |
M95L |
probably benign |
Het |
Capn7 |
C |
T |
14: 31,058,642 (GRCm39) |
|
probably benign |
Het |
Cav1 |
A |
G |
6: 17,339,143 (GRCm39) |
E45G |
possibly damaging |
Het |
Ccdc183 |
T |
G |
2: 25,503,682 (GRCm39) |
E185A |
probably benign |
Het |
Ccl2 |
T |
A |
11: 81,926,489 (GRCm39) |
M1K |
probably null |
Het |
Cep97 |
T |
A |
16: 55,726,117 (GRCm39) |
H590L |
probably benign |
Het |
Dsg1c |
A |
T |
18: 20,399,201 (GRCm39) |
I102F |
probably damaging |
Het |
Fcho2 |
A |
G |
13: 98,921,334 (GRCm39) |
Y184H |
possibly damaging |
Het |
Gart |
C |
T |
16: 91,440,031 (GRCm39) |
|
probably benign |
Het |
Gask1a |
A |
T |
9: 121,794,467 (GRCm39) |
Q207L |
probably damaging |
Het |
Golga3 |
G |
A |
5: 110,356,450 (GRCm39) |
|
probably null |
Het |
Hint3 |
G |
T |
10: 30,486,380 (GRCm39) |
A133E |
probably damaging |
Het |
Hspe1 |
T |
C |
1: 55,128,376 (GRCm39) |
|
probably null |
Het |
Insr |
A |
T |
8: 3,308,418 (GRCm39) |
V206E |
probably benign |
Het |
Insrr |
T |
C |
3: 87,722,551 (GRCm39) |
S1258P |
probably damaging |
Het |
Itga11 |
C |
T |
9: 62,659,538 (GRCm39) |
T430M |
probably damaging |
Het |
Jmjd1c |
G |
A |
10: 67,056,388 (GRCm39) |
V890I |
possibly damaging |
Het |
Kdm4b |
T |
A |
17: 56,703,592 (GRCm39) |
S717R |
probably damaging |
Het |
Large1 |
A |
T |
8: 73,843,092 (GRCm39) |
C144S |
probably damaging |
Het |
Lrat |
G |
T |
3: 82,810,755 (GRCm39) |
Q89K |
probably benign |
Het |
Lrrc66 |
A |
T |
5: 73,765,899 (GRCm39) |
F381L |
possibly damaging |
Het |
Myo15a |
A |
G |
11: 60,396,832 (GRCm39) |
T2634A |
probably damaging |
Het |
Nup205 |
T |
G |
6: 35,201,470 (GRCm39) |
I1182M |
possibly damaging |
Het |
Or2a51 |
T |
A |
6: 43,178,837 (GRCm39) |
D86E |
probably benign |
Het |
Or5m10 |
A |
T |
2: 85,717,965 (GRCm39) |
I274F |
probably benign |
Het |
Or6c66 |
T |
A |
10: 129,461,603 (GRCm39) |
E109V |
probably damaging |
Het |
Plekha6 |
T |
A |
1: 133,200,198 (GRCm39) |
V259D |
possibly damaging |
Het |
Prdm9 |
C |
A |
17: 15,765,257 (GRCm39) |
A508S |
possibly damaging |
Het |
Prickle2 |
A |
G |
6: 92,353,286 (GRCm39) |
F783L |
probably benign |
Het |
Ptprc |
T |
C |
1: 138,054,047 (GRCm39) |
S31G |
probably benign |
Het |
Rbak |
A |
T |
5: 143,159,226 (GRCm39) |
I609N |
probably damaging |
Het |
Rimklb |
A |
T |
6: 122,436,176 (GRCm39) |
L134* |
probably null |
Het |
Ripor2 |
A |
G |
13: 24,877,749 (GRCm39) |
I250V |
probably benign |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Spaca6 |
C |
T |
17: 18,056,358 (GRCm39) |
L118F |
probably benign |
Het |
Tmem167 |
G |
A |
13: 90,246,533 (GRCm39) |
C19Y |
probably benign |
Het |
Togaram1 |
C |
T |
12: 65,067,160 (GRCm39) |
T1684I |
possibly damaging |
Het |
Trappc8 |
T |
C |
18: 21,007,729 (GRCm39) |
T129A |
probably benign |
Het |
Ubash3a |
A |
G |
17: 31,447,184 (GRCm39) |
S347G |
probably benign |
Het |
Unc80 |
T |
C |
1: 66,542,752 (GRCm39) |
S289P |
probably benign |
Het |
Vmn2r11 |
A |
G |
5: 109,202,816 (GRCm39) |
I87T |
probably damaging |
Het |
Wdsub1 |
A |
G |
2: 59,683,224 (GRCm39) |
L450P |
probably damaging |
Het |
Xylt2 |
A |
G |
11: 94,558,408 (GRCm39) |
|
probably null |
Het |
Zfp429 |
A |
T |
13: 67,538,830 (GRCm39) |
C205S |
probably damaging |
Het |
Zfp60 |
T |
C |
7: 27,448,451 (GRCm39) |
I373T |
probably benign |
Het |
Zfp738 |
A |
G |
13: 67,818,420 (GRCm39) |
S524P |
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 |
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 |
R9344:Vmn2r54
|
UTSW |
7 |
12,366,283 (GRCm39) |
missense |
probably benign |
|
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'- ACACTAGGACAACAGTTTCCTC -3'
(R):5'- TGACTCCTTAGAAATATCGCAGGTC -3'
Sequencing Primer
(F):5'- CTGCATTCAGGGAACTTACTTG -3'
(R):5'- CCTTAGAAATATCGCAGGTCCTTTAC -3'
|
Posted On |
2019-05-13 |