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 |
124191596-124231784 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124200690 bp (GRCm38)
|
| 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: 87,970,665 (GRCm38) |
I3F |
probably benign |
Het |
| 4930590J08Rik |
A |
G |
6: 91,917,035 (GRCm38) |
N211S |
probably benign |
Het |
| A2ml1 |
A |
T |
6: 128,547,233 (GRCm38) |
Y1145* |
probably null |
Het |
| Abca7 |
A |
G |
10: 80,014,230 (GRCm38) |
D1972G |
probably benign |
Het |
| Adamts19 |
A |
T |
18: 59,052,615 (GRCm38) |
D1187V |
probably damaging |
Het |
| Adcy6 |
G |
C |
15: 98,600,007 (GRCm38) |
I421M |
probably damaging |
Het |
| Afap1 |
C |
A |
5: 35,974,491 (GRCm38) |
H387Q |
probably damaging |
Het |
| Atp8b1 |
C |
T |
18: 64,545,264 (GRCm38) |
V854M |
probably damaging |
Het |
| Auts2 |
C |
T |
5: 131,487,463 (GRCm38) |
|
probably benign |
Het |
| Cbll1 |
T |
C |
12: 31,487,856 (GRCm38) |
D300G |
probably damaging |
Het |
| Cd200r4 |
A |
T |
16: 44,833,049 (GRCm38) |
T61S |
possibly damaging |
Het |
| Chmp4c |
G |
T |
3: 10,389,684 (GRCm38) |
V207L |
probably benign |
Het |
| Cntn5 |
T |
C |
9: 9,976,316 (GRCm38) |
T413A |
possibly damaging |
Het |
| Cox7a2 |
T |
A |
9: 79,758,581 (GRCm38) |
|
probably null |
Het |
| Cwc27 |
A |
G |
13: 104,797,306 (GRCm38) |
L236P |
probably damaging |
Het |
| Diaph1 |
A |
G |
18: 37,896,093 (GRCm38) |
|
probably null |
Het |
| Dst |
T |
A |
1: 34,260,372 (GRCm38) |
|
probably benign |
Het |
| Ear1 |
T |
A |
14: 43,819,126 (GRCm38) |
H95L |
probably damaging |
Het |
| Enpp1 |
T |
A |
10: 24,641,834 (GRCm38) |
H898L |
probably benign |
Het |
| Entpd5 |
G |
A |
12: 84,382,295 (GRCm38) |
R321* |
probably null |
Het |
| Ercc6l2 |
C |
A |
13: 63,824,871 (GRCm38) |
N177K |
possibly damaging |
Het |
| Ergic1 |
T |
C |
17: 26,641,706 (GRCm38) |
|
probably null |
Het |
| Erich6 |
A |
T |
3: 58,626,598 (GRCm38) |
I336N |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 53,105,537 (GRCm38) |
E424G |
probably damaging |
Het |
| Galnt3 |
A |
T |
2: 66,084,206 (GRCm38) |
D622E |
probably damaging |
Het |
| Gjd4 |
T |
A |
18: 9,280,569 (GRCm38) |
T170S |
probably damaging |
Het |
| Gm5611 |
G |
A |
9: 17,030,607 (GRCm38) |
|
noncoding transcript |
Het |
| Gpc5 |
T |
A |
14: 115,399,250 (GRCm38) |
N448K |
probably benign |
Het |
| Klra3 |
G |
C |
6: 130,333,144 (GRCm38) |
R138G |
probably benign |
Het |
| Man2b2 |
T |
C |
5: 36,820,927 (GRCm38) |
T338A |
probably benign |
Het |
| Mbtps1 |
A |
T |
8: 119,546,125 (GRCm38) |
S94T |
probably benign |
Het |
| Muc3a |
A |
T |
5: 137,210,081 (GRCm38) |
S205T |
unknown |
Het |
| Nav2 |
C |
A |
7: 49,545,934 (GRCm38) |
D1019E |
probably damaging |
Het |
| Neurl4 |
T |
A |
11: 69,903,426 (GRCm38) |
L236* |
probably null |
Het |
| Olfr272 |
A |
G |
4: 52,911,260 (GRCm38) |
V178A |
probably benign |
Het |
| Plcxd3 |
T |
C |
15: 4,516,611 (GRCm38) |
|
probably benign |
Het |
| Pprc1 |
T |
C |
19: 46,071,526 (GRCm38) |
|
probably benign |
Het |
| Prkaa2 |
T |
A |
4: 105,075,450 (GRCm38) |
N67I |
probably damaging |
Het |
| Prom1 |
T |
A |
5: 44,018,353 (GRCm38) |
Y508F |
probably benign |
Het |
| Prx |
A |
G |
7: 27,517,258 (GRCm38) |
M534V |
probably damaging |
Het |
| Rps6kc1 |
C |
T |
1: 190,871,768 (GRCm38) |
R219Q |
possibly damaging |
Het |
| Sbf2 |
T |
C |
7: 110,378,043 (GRCm38) |
Y628C |
probably damaging |
Het |
| Slc1a2 |
A |
T |
2: 102,777,510 (GRCm38) |
D501V |
probably benign |
Het |
| Spata31 |
A |
T |
13: 64,921,382 (GRCm38) |
Q448L |
probably damaging |
Het |
| Stk35 |
T |
C |
2: 129,811,235 (GRCm38) |
|
probably benign |
Het |
| Stxbp5 |
T |
A |
10: 9,838,092 (GRCm38) |
R234S |
probably damaging |
Het |
| Tifab |
A |
G |
13: 56,176,288 (GRCm38) |
V114A |
probably benign |
Het |
| Tiprl |
A |
G |
1: 165,228,406 (GRCm38) |
M49T |
probably benign |
Het |
| Tlr12 |
A |
G |
4: 128,617,752 (GRCm38) |
L235P |
possibly damaging |
Het |
| Tmem57 |
A |
G |
4: 134,804,507 (GRCm38) |
V617A |
probably damaging |
Het |
| Trim43b |
A |
T |
9: 89,085,358 (GRCm38) |
C407* |
probably null |
Het |
| Txndc17 |
C |
A |
11: 72,207,707 (GRCm38) |
F28L |
probably damaging |
Het |
| Vmn2r3 |
T |
A |
3: 64,275,117 (GRCm38) |
D387V |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,875,566 (GRCm38) |
I2699T |
probably damaging |
Het |
| Zfp944 |
G |
T |
17: 22,339,716 (GRCm38) |
Y183* |
probably null |
Het |
|
| Other mutations in Vmn2r27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01285:Vmn2r27
|
APN |
6 |
124,192,411 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
IGL01388:Vmn2r27
|
APN |
6 |
124,223,832 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
IGL01923:Vmn2r27
|
APN |
6 |
124,200,525 (GRCm38) |
missense |
probably benign |
0.20 |
|
IGL01954:Vmn2r27
|
APN |
6 |
124,192,248 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02105:Vmn2r27
|
APN |
6 |
124,197,349 (GRCm38) |
splice site |
probably benign |
|
|
IGL02586:Vmn2r27
|
APN |
6 |
124,224,475 (GRCm38) |
nonsense |
probably null |
|
|
IGL03130:Vmn2r27
|
APN |
6 |
124,192,317 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL03330:Vmn2r27
|
APN |
6 |
124,230,180 (GRCm38) |
nonsense |
probably null |
|
|
R0124:Vmn2r27
|
UTSW |
6 |
124,231,619 (GRCm38) |
missense |
probably benign |
|
|
R0234:Vmn2r27
|
UTSW |
6 |
124,231,619 (GRCm38) |
missense |
probably benign |
|
|
R0234:Vmn2r27
|
UTSW |
6 |
124,231,619 (GRCm38) |
missense |
probably benign |
|
|
R0384:Vmn2r27
|
UTSW |
6 |
124,223,912 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0582:Vmn2r27
|
UTSW |
6 |
124,224,290 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0733:Vmn2r27
|
UTSW |
6 |
124,192,188 (GRCm38) |
missense |
probably benign |
0.18 |
|
R0738:Vmn2r27
|
UTSW |
6 |
124,223,702 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R0835:Vmn2r27
|
UTSW |
6 |
124,200,624 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1183:Vmn2r27
|
UTSW |
6 |
124,200,532 (GRCm38) |
missense |
probably benign |
|
|
R1401:Vmn2r27
|
UTSW |
6 |
124,191,632 (GRCm38) |
nonsense |
probably null |
|
|
R1484:Vmn2r27
|
UTSW |
6 |
124,200,515 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1539:Vmn2r27
|
UTSW |
6 |
124,191,771 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1565:Vmn2r27
|
UTSW |
6 |
124,231,634 (GRCm38) |
missense |
probably benign |
|
|
R1595:Vmn2r27
|
UTSW |
6 |
124,231,615 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1614:Vmn2r27
|
UTSW |
6 |
124,223,934 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1742:Vmn2r27
|
UTSW |
6 |
124,200,677 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R1816:Vmn2r27
|
UTSW |
6 |
124,230,371 (GRCm38) |
nonsense |
probably null |
|
|
R1822:Vmn2r27
|
UTSW |
6 |
124,231,634 (GRCm38) |
missense |
probably benign |
|
|
R1824:Vmn2r27
|
UTSW |
6 |
124,231,634 (GRCm38) |
missense |
probably benign |
|
|
R1870:Vmn2r27
|
UTSW |
6 |
124,224,211 (GRCm38) |
missense |
probably benign |
0.11 |
|
R1942:Vmn2r27
|
UTSW |
6 |
124,223,763 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1962:Vmn2r27
|
UTSW |
6 |
124,223,834 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R2069:Vmn2r27
|
UTSW |
6 |
124,224,483 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2075:Vmn2r27
|
UTSW |
6 |
124,200,551 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R2379:Vmn2r27
|
UTSW |
6 |
124,224,383 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R3748:Vmn2r27
|
UTSW |
6 |
124,230,392 (GRCm38) |
missense |
probably benign |
0.35 |
|
R4384:Vmn2r27
|
UTSW |
6 |
124,224,156 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4392:Vmn2r27
|
UTSW |
6 |
124,230,176 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4758:Vmn2r27
|
UTSW |
6 |
124,231,637 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5018:Vmn2r27
|
UTSW |
6 |
124,224,182 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5235:Vmn2r27
|
UTSW |
6 |
124,192,054 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5718:Vmn2r27
|
UTSW |
6 |
124,192,144 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R5859:Vmn2r27
|
UTSW |
6 |
124,200,688 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5958:Vmn2r27
|
UTSW |
6 |
124,231,727 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6044:Vmn2r27
|
UTSW |
6 |
124,231,772 (GRCm38) |
missense |
probably benign |
|
|
R6086:Vmn2r27
|
UTSW |
6 |
124,191,999 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6396:Vmn2r27
|
UTSW |
6 |
124,224,166 (GRCm38) |
nonsense |
probably null |
|
|
R6546:Vmn2r27
|
UTSW |
6 |
124,192,410 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R6746:Vmn2r27
|
UTSW |
6 |
124,200,593 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R6976:Vmn2r27
|
UTSW |
6 |
124,224,353 (GRCm38) |
nonsense |
probably null |
|
|
R7091:Vmn2r27
|
UTSW |
6 |
124,223,945 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R7145:Vmn2r27
|
UTSW |
6 |
124,191,752 (GRCm38) |
missense |
probably benign |
|
|
R7176:Vmn2r27
|
UTSW |
6 |
124,192,036 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7382:Vmn2r27
|
UTSW |
6 |
124,197,317 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7482:Vmn2r27
|
UTSW |
6 |
124,224,261 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7853:Vmn2r27
|
UTSW |
6 |
124,192,021 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7859:Vmn2r27
|
UTSW |
6 |
124,224,242 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7959:Vmn2r27
|
UTSW |
6 |
124,192,081 (GRCm38) |
missense |
probably benign |
|
|
R8266:Vmn2r27
|
UTSW |
6 |
124,191,978 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8353:Vmn2r27
|
UTSW |
6 |
124,192,445 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8394:Vmn2r27
|
UTSW |
6 |
124,191,817 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R8463:Vmn2r27
|
UTSW |
6 |
124,192,209 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8477:Vmn2r27
|
UTSW |
6 |
124,224,241 (GRCm38) |
missense |
probably benign |
0.11 |
|
R8705:Vmn2r27
|
UTSW |
6 |
124,230,229 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8752:Vmn2r27
|
UTSW |
6 |
124,224,059 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9109:Vmn2r27
|
UTSW |
6 |
124,197,265 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9140:Vmn2r27
|
UTSW |
6 |
124,192,248 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9157:Vmn2r27
|
UTSW |
6 |
124,224,285 (GRCm38) |
missense |
probably benign |
0.09 |
|
R9431:Vmn2r27
|
UTSW |
6 |
124,191,897 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9477:Vmn2r27
|
UTSW |
6 |
124,191,951 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9758:Vmn2r27
|
UTSW |
6 |
124,191,678 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
Z1177:Vmn2r27
|
UTSW |
6 |
124,191,901 (GRCm38) |
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