Incidental Mutation 'R5289:Vmn2r57'
| ID |
424595 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r57
|
| Ensembl Gene |
ENSMUSG00000066537 |
| Gene Name |
vomeronasal 2, receptor 57 |
| Synonyms |
EG269902 |
| MMRRC Submission |
042872-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R5289 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
41049156-41098065 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41049398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 784
(S784P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125817
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094532]
[ENSMUST00000165029]
|
| AlphaFold |
L7N269 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094532
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165029
AA Change: S784P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125817
Gene: ENSMUSG00000066537
AA Change: S784P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
77 |
471 |
1.4e-44 |
PFAM |
|
Pfam:NCD3G
|
514 |
567 |
2.7e-23 |
PFAM |
|
Pfam:7tm_3
|
600 |
835 |
1.8e-52 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170929
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,669,203 (GRCm39) |
V1731A |
probably benign |
Het |
| Ahcyl1 |
A |
G |
3: 107,577,206 (GRCm39) |
|
probably null |
Het |
| Aox1 |
T |
A |
1: 58,131,717 (GRCm39) |
M1042K |
probably damaging |
Het |
| Atp10d |
C |
A |
5: 72,412,466 (GRCm39) |
Q590K |
probably benign |
Het |
| Atp8b1 |
G |
T |
18: 64,679,158 (GRCm39) |
N774K |
possibly damaging |
Het |
| Atrnl1 |
C |
T |
19: 57,645,514 (GRCm39) |
T458M |
probably damaging |
Het |
| Bltp1 |
C |
A |
3: 37,054,258 (GRCm39) |
Q3126K |
probably damaging |
Het |
| Cnr1 |
T |
A |
4: 33,943,910 (GRCm39) |
C99* |
probably null |
Het |
| Cnr2 |
A |
G |
4: 135,644,318 (GRCm39) |
Y132C |
probably damaging |
Het |
| Commd9 |
C |
T |
2: 101,729,239 (GRCm39) |
A115V |
probably benign |
Het |
| Diaph3 |
A |
G |
14: 87,219,114 (GRCm39) |
F426S |
probably damaging |
Het |
| Diras1 |
G |
A |
10: 80,858,078 (GRCm39) |
Q58* |
probably null |
Het |
| Dnaaf6rt |
A |
T |
1: 31,262,608 (GRCm39) |
I197F |
probably benign |
Het |
| Dpy19l2 |
A |
G |
9: 24,607,293 (GRCm39) |
L56P |
probably benign |
Het |
| Dsc1 |
A |
T |
18: 20,234,910 (GRCm39) |
V248D |
possibly damaging |
Het |
| Frem3 |
A |
G |
8: 81,338,948 (GRCm39) |
M414V |
probably benign |
Het |
| Frmd4b |
G |
T |
6: 97,279,309 (GRCm39) |
|
probably null |
Het |
| Gabarapl2 |
T |
C |
8: 112,669,227 (GRCm39) |
W62R |
probably damaging |
Het |
| Glt1d1 |
A |
G |
5: 127,721,420 (GRCm39) |
R36G |
probably benign |
Het |
| Grb10 |
T |
C |
11: 11,894,924 (GRCm39) |
|
silent |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Hc |
A |
G |
2: 34,886,026 (GRCm39) |
|
probably null |
Het |
| Hgd |
A |
G |
16: 37,448,913 (GRCm39) |
E379G |
possibly damaging |
Het |
| Ifi30 |
A |
T |
8: 71,219,245 (GRCm39) |
|
probably benign |
Het |
| Iqgap1 |
T |
C |
7: 80,388,472 (GRCm39) |
I842V |
possibly damaging |
Het |
| Iqsec3 |
T |
A |
6: 121,363,659 (GRCm39) |
|
probably null |
Het |
| Kalrn |
A |
G |
16: 34,072,711 (GRCm39) |
S724P |
possibly damaging |
Het |
| Lama2 |
C |
A |
10: 27,088,069 (GRCm39) |
G903* |
probably null |
Het |
| Lrrc10 |
T |
C |
10: 116,881,392 (GRCm39) |
V22A |
probably benign |
Het |
| Lzts3 |
T |
C |
2: 130,478,021 (GRCm39) |
E245G |
probably benign |
Het |
| Man2a1 |
A |
G |
17: 64,958,222 (GRCm39) |
T246A |
probably damaging |
Het |
| Mfsd13a |
A |
G |
19: 46,356,719 (GRCm39) |
E240G |
probably benign |
Het |
| Mtor |
T |
C |
4: 148,550,549 (GRCm39) |
I735T |
possibly damaging |
Het |
| Naa15 |
A |
T |
3: 51,363,315 (GRCm39) |
H333L |
probably damaging |
Het |
| Nes |
C |
A |
3: 87,885,725 (GRCm39) |
T1284K |
probably damaging |
Het |
| Nexn |
T |
G |
3: 151,953,709 (GRCm39) |
H173P |
probably benign |
Het |
| Nid2 |
T |
C |
14: 19,855,379 (GRCm39) |
V1173A |
possibly damaging |
Het |
| Npepps |
A |
G |
11: 97,131,753 (GRCm39) |
|
probably null |
Het |
| Pgm1 |
T |
A |
4: 99,824,266 (GRCm39) |
M313K |
probably damaging |
Het |
| Plag1 |
T |
A |
4: 3,905,545 (GRCm39) |
K48N |
probably damaging |
Het |
| Prok1 |
G |
C |
3: 107,146,935 (GRCm39) |
L11V |
probably benign |
Het |
| Ptpn9 |
T |
C |
9: 56,967,347 (GRCm39) |
|
probably null |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slc38a4 |
A |
T |
15: 96,908,229 (GRCm39) |
F171I |
possibly damaging |
Het |
| Sycp1 |
A |
T |
3: 102,841,569 (GRCm39) |
N78K |
possibly damaging |
Het |
| Tas2r110 |
T |
C |
6: 132,844,972 (GRCm39) |
M1T |
probably null |
Het |
| Thoc2l |
G |
A |
5: 104,667,523 (GRCm39) |
V682I |
probably benign |
Het |
| Tmem260 |
G |
A |
14: 48,724,267 (GRCm39) |
V182M |
possibly damaging |
Het |
| Tmem30a |
A |
T |
9: 79,683,436 (GRCm39) |
N144K |
probably damaging |
Het |
| Vmn2r108 |
A |
G |
17: 20,691,866 (GRCm39) |
L219P |
probably damaging |
Het |
| Vwf |
T |
C |
6: 125,644,473 (GRCm39) |
|
probably benign |
Het |
| Wdr62 |
A |
C |
7: 29,967,300 (GRCm39) |
V318G |
probably damaging |
Het |
| Zfp398 |
T |
A |
6: 47,840,115 (GRCm39) |
S115T |
probably benign |
Het |
| Zfp62 |
T |
A |
11: 49,107,975 (GRCm39) |
C689S |
probably damaging |
Het |
| Zmynd15 |
C |
G |
11: 70,356,830 (GRCm39) |
P580R |
unknown |
Het |
|
| Other mutations in Vmn2r57 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00159:Vmn2r57
|
APN |
7 |
41,078,209 (GRCm39) |
missense |
probably benign |
|
|
IGL01108:Vmn2r57
|
APN |
7 |
41,077,008 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01112:Vmn2r57
|
APN |
7 |
41,074,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01516:Vmn2r57
|
APN |
7 |
41,049,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01880:Vmn2r57
|
APN |
7 |
41,049,619 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02117:Vmn2r57
|
APN |
7 |
41,049,874 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02500:Vmn2r57
|
APN |
7 |
41,077,650 (GRCm39) |
missense |
probably benign |
|
|
IGL02801:Vmn2r57
|
APN |
7 |
41,098,056 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02993:Vmn2r57
|
APN |
7 |
41,077,498 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02996:Vmn2r57
|
APN |
7 |
41,049,165 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0008:Vmn2r57
|
UTSW |
7 |
41,050,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0032:Vmn2r57
|
UTSW |
7 |
41,049,157 (GRCm39) |
splice site |
probably null |
|
|
R0305:Vmn2r57
|
UTSW |
7 |
41,076,967 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0469:Vmn2r57
|
UTSW |
7 |
41,077,216 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0510:Vmn2r57
|
UTSW |
7 |
41,077,216 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0847:Vmn2r57
|
UTSW |
7 |
41,078,225 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1025:Vmn2r57
|
UTSW |
7 |
41,077,228 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1081:Vmn2r57
|
UTSW |
7 |
41,077,635 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1479:Vmn2r57
|
UTSW |
7 |
41,077,254 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R1579:Vmn2r57
|
UTSW |
7 |
41,049,548 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1764:Vmn2r57
|
UTSW |
7 |
41,050,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1848:Vmn2r57
|
UTSW |
7 |
41,077,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2006:Vmn2r57
|
UTSW |
7 |
41,098,001 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2197:Vmn2r57
|
UTSW |
7 |
41,078,249 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2242:Vmn2r57
|
UTSW |
7 |
41,077,498 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2394:Vmn2r57
|
UTSW |
7 |
41,049,619 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R3937:Vmn2r57
|
UTSW |
7 |
41,077,554 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4193:Vmn2r57
|
UTSW |
7 |
41,077,663 (GRCm39) |
missense |
probably benign |
|
|
R4423:Vmn2r57
|
UTSW |
7 |
41,076,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4865:Vmn2r57
|
UTSW |
7 |
41,049,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4947:Vmn2r57
|
UTSW |
7 |
41,049,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5042:Vmn2r57
|
UTSW |
7 |
41,078,086 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5084:Vmn2r57
|
UTSW |
7 |
41,075,974 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5177:Vmn2r57
|
UTSW |
7 |
41,049,664 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5192:Vmn2r57
|
UTSW |
7 |
41,077,363 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5745:Vmn2r57
|
UTSW |
7 |
41,097,895 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6051:Vmn2r57
|
UTSW |
7 |
41,097,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6155:Vmn2r57
|
UTSW |
7 |
41,078,114 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6248:Vmn2r57
|
UTSW |
7 |
41,049,284 (GRCm39) |
missense |
probably benign |
|
|
R6381:Vmn2r57
|
UTSW |
7 |
41,078,242 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7019:Vmn2r57
|
UTSW |
7 |
41,078,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7126:Vmn2r57
|
UTSW |
7 |
41,049,218 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7146:Vmn2r57
|
UTSW |
7 |
41,097,895 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7215:Vmn2r57
|
UTSW |
7 |
41,049,710 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7432:Vmn2r57
|
UTSW |
7 |
41,076,148 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7633:Vmn2r57
|
UTSW |
7 |
41,074,513 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7811:Vmn2r57
|
UTSW |
7 |
41,074,439 (GRCm39) |
nonsense |
probably null |
|
|
R8025:Vmn2r57
|
UTSW |
7 |
41,076,183 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8332:Vmn2r57
|
UTSW |
7 |
41,049,677 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8345:Vmn2r57
|
UTSW |
7 |
41,076,968 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8360:Vmn2r57
|
UTSW |
7 |
41,049,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8738:Vmn2r57
|
UTSW |
7 |
41,077,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8758:Vmn2r57
|
UTSW |
7 |
41,078,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8955:Vmn2r57
|
UTSW |
7 |
41,049,571 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8985:Vmn2r57
|
UTSW |
7 |
41,049,259 (GRCm39) |
missense |
probably benign |
|
|
R9108:Vmn2r57
|
UTSW |
7 |
41,078,192 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9160:Vmn2r57
|
UTSW |
7 |
41,076,159 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9354:Vmn2r57
|
UTSW |
7 |
41,049,663 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9566:Vmn2r57
|
UTSW |
7 |
41,077,089 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9633:Vmn2r57
|
UTSW |
7 |
41,076,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0026:Vmn2r57
|
UTSW |
7 |
41,077,985 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
X0026:Vmn2r57
|
UTSW |
7 |
41,077,549 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0065:Vmn2r57
|
UTSW |
7 |
41,077,395 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1176:Vmn2r57
|
UTSW |
7 |
41,049,922 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCCTGATATCAAGACATGAGTTC -3'
(R):5'- ATGGCTGGCTACCTTTCCAC -3'
Sequencing Primer
(F):5'- CAAGACATGAGTTCTTATCTGGCC -3'
(R):5'- CCACCTTTTATTGATCAAAATGCTC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation