Incidental Mutation 'R7236:Vmn2r54'
| ID |
562820 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r54
|
| Ensembl Gene |
ENSMUSG00000096593 |
| Gene Name |
vomeronasal 2, receptor 54 |
| Synonyms |
|
| MMRRC Submission |
045306-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R7236 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
12349160-12374167 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 12365917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 339
(H339L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083386
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086210]
|
| AlphaFold |
A0A3B2W422 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086210
AA Change: H339L
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000083386
Gene: ENSMUSG00000096593
AA Change: H339L
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn3 |
C |
T |
19: 4,921,644 (GRCm39) |
V179I |
probably benign |
Het |
| Adra1b |
A |
G |
11: 43,667,151 (GRCm39) |
I362T |
possibly damaging |
Het |
| B3galnt1 |
T |
C |
3: 69,482,950 (GRCm39) |
K104E |
probably benign |
Het |
| Bnc2 |
T |
C |
4: 84,474,101 (GRCm39) |
Y15C |
probably benign |
Het |
| C2cd2l |
C |
A |
9: 44,228,960 (GRCm39) |
A124S |
possibly damaging |
Het |
| Camsap3 |
T |
A |
8: 3,654,116 (GRCm39) |
F595L |
probably damaging |
Het |
| Cct2 |
A |
T |
10: 116,897,464 (GRCm39) |
D93E |
probably benign |
Het |
| Cd200l2 |
A |
T |
16: 45,348,030 (GRCm39) |
I169N |
possibly damaging |
Het |
| Cemip |
A |
T |
7: 83,598,012 (GRCm39) |
|
probably null |
Het |
| Ciapin1 |
T |
C |
8: 95,550,338 (GRCm39) |
T34A |
|
Het |
| Dop1a |
G |
A |
9: 86,397,431 (GRCm39) |
V912I |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,790,093 (GRCm39) |
Q2832L |
probably benign |
Het |
| Eif3c |
T |
C |
7: 126,151,495 (GRCm39) |
T610A |
possibly damaging |
Het |
| Ephb3 |
A |
G |
16: 21,033,231 (GRCm39) |
R106G |
probably damaging |
Het |
| Ephx3 |
T |
A |
17: 32,404,328 (GRCm39) |
|
probably null |
Het |
| Etv2 |
A |
T |
7: 30,334,455 (GRCm39) |
S93T |
probably benign |
Het |
| Fbxo34 |
T |
A |
14: 47,767,841 (GRCm39) |
D451E |
probably benign |
Het |
| Fmo9 |
A |
G |
1: 166,504,140 (GRCm39) |
F141L |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,265,821 (GRCm39) |
K500R |
possibly damaging |
Het |
| Gfra3 |
T |
C |
18: 34,828,884 (GRCm39) |
D170G |
probably damaging |
Het |
| Gnptg |
T |
C |
17: 25,458,897 (GRCm39) |
N34S |
possibly damaging |
Het |
| Golga5 |
T |
A |
12: 102,441,034 (GRCm39) |
|
probably null |
Het |
| Herc2 |
G |
T |
7: 55,734,828 (GRCm39) |
L139F |
probably benign |
Het |
| Ikzf2 |
T |
A |
1: 69,578,240 (GRCm39) |
N423I |
probably benign |
Het |
| Il31ra |
A |
T |
13: 112,660,439 (GRCm39) |
*717R |
probably null |
Het |
| Itga2 |
G |
T |
13: 115,014,227 (GRCm39) |
Q234K |
probably benign |
Het |
| Kcnt1 |
A |
T |
2: 25,799,951 (GRCm39) |
|
probably null |
Het |
| Kif19b |
G |
T |
5: 140,457,400 (GRCm39) |
A390S |
probably benign |
Het |
| Man2a2 |
T |
C |
7: 80,018,653 (GRCm39) |
S69G |
probably damaging |
Het |
| Mccc1 |
A |
G |
3: 36,037,944 (GRCm39) |
V294A |
probably benign |
Het |
| Mphosph8 |
T |
A |
14: 56,911,754 (GRCm39) |
I259K |
possibly damaging |
Het |
| Mrpl15 |
A |
T |
1: 4,846,711 (GRCm39) |
N288K |
probably benign |
Het |
| Msantd2 |
T |
C |
9: 37,400,965 (GRCm39) |
W116R |
probably damaging |
Het |
| Msantd5f9 |
G |
T |
4: 73,835,808 (GRCm39) |
L219M |
probably benign |
Het |
| Mtmr10 |
T |
C |
7: 63,963,932 (GRCm39) |
|
probably benign |
Het |
| Mylk |
A |
T |
16: 34,742,899 (GRCm39) |
D1137V |
probably damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,401,512 (GRCm39) |
K879E |
probably damaging |
Het |
| Or8j3c |
A |
T |
2: 86,253,533 (GRCm39) |
C162* |
probably null |
Het |
| Pak6 |
A |
G |
2: 118,523,909 (GRCm39) |
T355A |
probably benign |
Het |
| Patj |
C |
T |
4: 98,299,294 (GRCm39) |
R139C |
probably damaging |
Het |
| Pcdhb3 |
C |
T |
18: 37,434,505 (GRCm39) |
A157V |
probably damaging |
Het |
| Phkg1 |
C |
A |
5: 129,895,802 (GRCm39) |
D150Y |
probably damaging |
Het |
| Ppp2r5c |
C |
T |
12: 110,432,323 (GRCm39) |
S45L |
probably benign |
Het |
| Prl4a1 |
A |
C |
13: 28,202,556 (GRCm39) |
T44P |
probably benign |
Het |
| Ptpro |
G |
A |
6: 137,345,335 (GRCm39) |
V114M |
probably damaging |
Het |
| Pwp1 |
A |
G |
10: 85,715,147 (GRCm39) |
N211S |
probably benign |
Het |
| Ralgapb |
A |
G |
2: 158,282,747 (GRCm39) |
D504G |
probably benign |
Het |
| Rock2 |
A |
T |
12: 16,979,003 (GRCm39) |
I98F |
probably damaging |
Het |
| Senp6 |
G |
T |
9: 80,040,247 (GRCm39) |
V785L |
probably damaging |
Het |
| Simc1 |
A |
G |
13: 54,672,609 (GRCm39) |
D319G |
probably benign |
Het |
| Tas2r105 |
A |
T |
6: 131,663,723 (GRCm39) |
I235N |
probably damaging |
Het |
| Tas2r110 |
A |
T |
6: 132,845,667 (GRCm39) |
M233L |
possibly damaging |
Het |
| Tmem260 |
C |
T |
14: 48,746,647 (GRCm39) |
|
probably null |
Het |
| Trank1 |
G |
T |
9: 111,202,142 (GRCm39) |
V1590L |
possibly damaging |
Het |
| Tsc2 |
A |
T |
17: 24,842,568 (GRCm39) |
M286K |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,697,796 (GRCm39) |
T202A |
|
Het |
| Ttyh1 |
A |
G |
7: 4,136,663 (GRCm39) |
N424D |
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,263,502 (GRCm39) |
|
probably null |
Het |
| Utp20 |
G |
T |
10: 88,585,204 (GRCm39) |
P2620Q |
probably benign |
Het |
| Vmn1r45 |
A |
G |
6: 89,910,133 (GRCm39) |
M279T |
probably benign |
Het |
| Vmn2r115 |
T |
A |
17: 23,578,576 (GRCm39) |
I683K |
probably benign |
Het |
| Vmn2r34 |
T |
C |
7: 7,684,750 (GRCm39) |
K481E |
probably damaging |
Het |
| Vmn2r94 |
T |
A |
17: 18,477,811 (GRCm39) |
N200I |
possibly damaging |
Het |
| Wdfy3 |
A |
G |
5: 101,984,074 (GRCm39) |
Y3493H |
probably damaging |
Het |
| Wdr5b |
A |
G |
16: 35,862,208 (GRCm39) |
D109G |
possibly damaging |
Het |
| Zfp286 |
A |
T |
11: 62,674,496 (GRCm39) |
|
probably null |
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 |
|
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'- TGCTGAAGTACATAGTCTGCTGC -3'
(R):5'- TCACAGCAGCAGGGCTATTG -3'
Sequencing Primer
(F):5'- GAAGTACATAGTCTGCTGCACTTC -3'
(R):5'- AGCAGGGCTATTGGCTTCC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation