Incidental Mutation 'R1536:Vmn2r27'
| ID |
169525 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r27
|
| Ensembl Gene |
ENSMUSG00000072778 |
| Gene Name |
vomeronasal 2, receptor27 |
| Synonyms |
EG232367 |
| MMRRC Submission |
039575-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R1536 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124168555-124208743 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124177649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 452
(R452G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098528
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100968]
|
| AlphaFold |
D3YUK6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100968
AA Change: R452G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000098528
Gene: ENSMUSG00000072778
AA Change: R452G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
81 |
475 |
1.1e-27 |
PFAM |
|
Pfam:NCD3G
|
519 |
570 |
1.3e-18 |
PFAM |
|
Pfam:7tm_3
|
603 |
838 |
2.6e-50 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.5%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
T |
5: 88,118,524 (GRCm39) |
I3F |
probably benign |
Het |
| 4930590J08Rik |
A |
G |
6: 91,894,016 (GRCm39) |
N211S |
probably benign |
Het |
| A2ml1 |
A |
T |
6: 128,524,196 (GRCm39) |
Y1145* |
probably null |
Het |
| Abca7 |
A |
G |
10: 79,850,064 (GRCm39) |
D1972G |
probably benign |
Het |
| Adamts19 |
A |
T |
18: 59,185,687 (GRCm39) |
D1187V |
probably damaging |
Het |
| Adcy6 |
G |
C |
15: 98,497,888 (GRCm39) |
I421M |
probably damaging |
Het |
| Afap1 |
C |
A |
5: 36,131,835 (GRCm39) |
H387Q |
probably damaging |
Het |
| Atp8b1 |
C |
T |
18: 64,678,335 (GRCm39) |
V854M |
probably damaging |
Het |
| Auts2 |
C |
T |
5: 131,516,302 (GRCm39) |
|
probably benign |
Het |
| Cbll1 |
T |
C |
12: 31,537,855 (GRCm39) |
D300G |
probably damaging |
Het |
| Cd200r4 |
A |
T |
16: 44,653,412 (GRCm39) |
T61S |
possibly damaging |
Het |
| Chmp4c |
G |
T |
3: 10,454,744 (GRCm39) |
V207L |
probably benign |
Het |
| Cntn5 |
T |
C |
9: 9,976,321 (GRCm39) |
T413A |
possibly damaging |
Het |
| Cox7a2 |
T |
A |
9: 79,665,863 (GRCm39) |
|
probably null |
Het |
| Cwc27 |
A |
G |
13: 104,933,814 (GRCm39) |
L236P |
probably damaging |
Het |
| Diaph1 |
A |
G |
18: 38,029,146 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
A |
1: 34,299,453 (GRCm39) |
|
probably benign |
Het |
| Ear1 |
T |
A |
14: 44,056,583 (GRCm39) |
H95L |
probably damaging |
Het |
| Enpp1 |
T |
A |
10: 24,517,732 (GRCm39) |
H898L |
probably benign |
Het |
| Entpd5 |
G |
A |
12: 84,429,069 (GRCm39) |
R321* |
probably null |
Het |
| Ercc6l2 |
C |
A |
13: 63,972,685 (GRCm39) |
N177K |
possibly damaging |
Het |
| Ergic1 |
T |
C |
17: 26,860,680 (GRCm39) |
|
probably null |
Het |
| Erich6 |
A |
T |
3: 58,534,019 (GRCm39) |
I336N |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
| Galnt3 |
A |
T |
2: 65,914,550 (GRCm39) |
D622E |
probably damaging |
Het |
| Gjd4 |
T |
A |
18: 9,280,569 (GRCm39) |
T170S |
probably damaging |
Het |
| Gm5611 |
G |
A |
9: 16,941,903 (GRCm39) |
|
noncoding transcript |
Het |
| Gpc5 |
T |
A |
14: 115,636,662 (GRCm39) |
N448K |
probably benign |
Het |
| Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
| Maco1 |
A |
G |
4: 134,531,818 (GRCm39) |
V617A |
probably damaging |
Het |
| Man2b2 |
T |
C |
5: 36,978,271 (GRCm39) |
T338A |
probably benign |
Het |
| Mbtps1 |
A |
T |
8: 120,272,864 (GRCm39) |
S94T |
probably benign |
Het |
| Muc3a |
A |
T |
5: 137,244,538 (GRCm39) |
S205T |
unknown |
Het |
| Nav2 |
C |
A |
7: 49,195,682 (GRCm39) |
D1019E |
probably damaging |
Het |
| Neurl4 |
T |
A |
11: 69,794,252 (GRCm39) |
L236* |
probably null |
Het |
| Or13c25 |
A |
G |
4: 52,911,260 (GRCm39) |
V178A |
probably benign |
Het |
| Plcxd3 |
T |
C |
15: 4,546,093 (GRCm39) |
|
probably benign |
Het |
| Pprc1 |
T |
C |
19: 46,059,965 (GRCm39) |
|
probably benign |
Het |
| Prkaa2 |
T |
A |
4: 104,932,647 (GRCm39) |
N67I |
probably damaging |
Het |
| Prom1 |
T |
A |
5: 44,175,695 (GRCm39) |
Y508F |
probably benign |
Het |
| Prx |
A |
G |
7: 27,216,683 (GRCm39) |
M534V |
probably damaging |
Het |
| Rps6kc1 |
C |
T |
1: 190,603,965 (GRCm39) |
R219Q |
possibly damaging |
Het |
| Sbf2 |
T |
C |
7: 109,977,250 (GRCm39) |
Y628C |
probably damaging |
Het |
| Slc1a2 |
A |
T |
2: 102,607,855 (GRCm39) |
D501V |
probably benign |
Het |
| Spata31 |
A |
T |
13: 65,069,196 (GRCm39) |
Q448L |
probably damaging |
Het |
| Stk35 |
T |
C |
2: 129,653,155 (GRCm39) |
|
probably benign |
Het |
| Stxbp5 |
T |
A |
10: 9,713,836 (GRCm39) |
R234S |
probably damaging |
Het |
| Tifab |
A |
G |
13: 56,324,101 (GRCm39) |
V114A |
probably benign |
Het |
| Tiprl |
A |
G |
1: 165,055,975 (GRCm39) |
M49T |
probably benign |
Het |
| Tlr12 |
A |
G |
4: 128,511,545 (GRCm39) |
L235P |
possibly damaging |
Het |
| Trim43b |
A |
T |
9: 88,967,411 (GRCm39) |
C407* |
probably null |
Het |
| Txndc17 |
C |
A |
11: 72,098,533 (GRCm39) |
F28L |
probably damaging |
Het |
| Vmn2r3 |
T |
A |
3: 64,182,538 (GRCm39) |
D387V |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,875,712 (GRCm39) |
I2699T |
probably damaging |
Het |
| Zfp944 |
G |
T |
17: 22,558,697 (GRCm39) |
Y183* |
probably null |
Het |
|
| Other mutations in Vmn2r27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01285:Vmn2r27
|
APN |
6 |
124,169,370 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01388:Vmn2r27
|
APN |
6 |
124,200,791 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL01923:Vmn2r27
|
APN |
6 |
124,177,484 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL01954:Vmn2r27
|
APN |
6 |
124,169,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02105:Vmn2r27
|
APN |
6 |
124,174,308 (GRCm39) |
splice site |
probably benign |
|
|
IGL02586:Vmn2r27
|
APN |
6 |
124,201,434 (GRCm39) |
nonsense |
probably null |
|
|
IGL03130:Vmn2r27
|
APN |
6 |
124,169,276 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03330:Vmn2r27
|
APN |
6 |
124,207,139 (GRCm39) |
nonsense |
probably null |
|
|
R0124:Vmn2r27
|
UTSW |
6 |
124,208,578 (GRCm39) |
missense |
probably benign |
|
|
R0234:Vmn2r27
|
UTSW |
6 |
124,208,578 (GRCm39) |
missense |
probably benign |
|
|
R0234:Vmn2r27
|
UTSW |
6 |
124,208,578 (GRCm39) |
missense |
probably benign |
|
|
R0384:Vmn2r27
|
UTSW |
6 |
124,200,871 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0582:Vmn2r27
|
UTSW |
6 |
124,201,249 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0733:Vmn2r27
|
UTSW |
6 |
124,169,147 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0738:Vmn2r27
|
UTSW |
6 |
124,200,661 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0835:Vmn2r27
|
UTSW |
6 |
124,177,583 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1183:Vmn2r27
|
UTSW |
6 |
124,177,491 (GRCm39) |
missense |
probably benign |
|
|
R1401:Vmn2r27
|
UTSW |
6 |
124,168,591 (GRCm39) |
nonsense |
probably null |
|
|
R1484:Vmn2r27
|
UTSW |
6 |
124,177,474 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1539:Vmn2r27
|
UTSW |
6 |
124,168,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1565:Vmn2r27
|
UTSW |
6 |
124,208,593 (GRCm39) |
missense |
probably benign |
|
|
R1595:Vmn2r27
|
UTSW |
6 |
124,208,574 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1614:Vmn2r27
|
UTSW |
6 |
124,200,893 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1742:Vmn2r27
|
UTSW |
6 |
124,177,636 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1816:Vmn2r27
|
UTSW |
6 |
124,207,330 (GRCm39) |
nonsense |
probably null |
|
|
R1822:Vmn2r27
|
UTSW |
6 |
124,208,593 (GRCm39) |
missense |
probably benign |
|
|
R1824:Vmn2r27
|
UTSW |
6 |
124,208,593 (GRCm39) |
missense |
probably benign |
|
|
R1870:Vmn2r27
|
UTSW |
6 |
124,201,170 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1942:Vmn2r27
|
UTSW |
6 |
124,200,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1962:Vmn2r27
|
UTSW |
6 |
124,200,793 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2069:Vmn2r27
|
UTSW |
6 |
124,201,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2075:Vmn2r27
|
UTSW |
6 |
124,177,510 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2379:Vmn2r27
|
UTSW |
6 |
124,201,342 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3748:Vmn2r27
|
UTSW |
6 |
124,207,351 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4384:Vmn2r27
|
UTSW |
6 |
124,201,115 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4392:Vmn2r27
|
UTSW |
6 |
124,207,135 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4758:Vmn2r27
|
UTSW |
6 |
124,208,596 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5018:Vmn2r27
|
UTSW |
6 |
124,201,141 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5235:Vmn2r27
|
UTSW |
6 |
124,169,013 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5718:Vmn2r27
|
UTSW |
6 |
124,169,103 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5859:Vmn2r27
|
UTSW |
6 |
124,177,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5958:Vmn2r27
|
UTSW |
6 |
124,208,686 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6044:Vmn2r27
|
UTSW |
6 |
124,208,731 (GRCm39) |
missense |
probably benign |
|
|
R6086:Vmn2r27
|
UTSW |
6 |
124,168,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6396:Vmn2r27
|
UTSW |
6 |
124,201,125 (GRCm39) |
nonsense |
probably null |
|
|
R6546:Vmn2r27
|
UTSW |
6 |
124,169,369 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6746:Vmn2r27
|
UTSW |
6 |
124,177,552 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6976:Vmn2r27
|
UTSW |
6 |
124,201,312 (GRCm39) |
nonsense |
probably null |
|
|
R7091:Vmn2r27
|
UTSW |
6 |
124,200,904 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7145:Vmn2r27
|
UTSW |
6 |
124,168,711 (GRCm39) |
missense |
probably benign |
|
|
R7176:Vmn2r27
|
UTSW |
6 |
124,168,995 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7382:Vmn2r27
|
UTSW |
6 |
124,174,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7482:Vmn2r27
|
UTSW |
6 |
124,201,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7853:Vmn2r27
|
UTSW |
6 |
124,168,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7859:Vmn2r27
|
UTSW |
6 |
124,201,201 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7959:Vmn2r27
|
UTSW |
6 |
124,169,040 (GRCm39) |
missense |
probably benign |
|
|
R8266:Vmn2r27
|
UTSW |
6 |
124,168,937 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8353:Vmn2r27
|
UTSW |
6 |
124,169,404 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8394:Vmn2r27
|
UTSW |
6 |
124,168,776 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8463:Vmn2r27
|
UTSW |
6 |
124,169,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8477:Vmn2r27
|
UTSW |
6 |
124,201,200 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8705:Vmn2r27
|
UTSW |
6 |
124,207,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8752:Vmn2r27
|
UTSW |
6 |
124,201,018 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9109:Vmn2r27
|
UTSW |
6 |
124,174,224 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9140:Vmn2r27
|
UTSW |
6 |
124,169,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9157:Vmn2r27
|
UTSW |
6 |
124,201,244 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9431:Vmn2r27
|
UTSW |
6 |
124,168,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9477:Vmn2r27
|
UTSW |
6 |
124,168,910 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9758:Vmn2r27
|
UTSW |
6 |
124,168,637 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1177:Vmn2r27
|
UTSW |
6 |
124,168,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGCAGCACACAGTGATGACTTC -3'
(R):5'- ATCTGGTGGACAGAGTCCTCCTTC -3'
Sequencing Primer
(F):5'- GTGATGACTTCAAGAATACTCACC -3'
(R):5'- GTGCATAGAGCACTACTGCTAC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation