Incidental Mutation 'R9160:Vmn2r57'
| ID |
695642 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r57
|
| Ensembl Gene |
ENSMUSG00000066537 |
| Gene Name |
vomeronasal 2, receptor 57 |
| Synonyms |
EG269902 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R9160 (G1)
|
| Quality Score |
132.008 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
41049156-41098065 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 41076159 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 451
(S451N)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000165029
AA Change: S451N
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000125817
Gene: ENSMUSG00000066537
AA Change: S451N
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
G |
A |
16: 20,379,246 (GRCm39) |
R704H |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,385,526 (GRCm39) |
F533L |
possibly damaging |
Het |
| Ank3 |
G |
A |
10: 69,838,304 (GRCm39) |
V1771I |
unknown |
Het |
| Aspm |
T |
C |
1: 139,417,862 (GRCm39) |
L2911S |
probably damaging |
Het |
| Atp2b4 |
T |
C |
1: 133,660,143 (GRCm39) |
I380V |
probably benign |
Het |
| C2cd3 |
T |
A |
7: 100,075,236 (GRCm39) |
L739I |
|
Het |
| Cacng6 |
T |
C |
7: 3,483,406 (GRCm39) |
S245P |
probably benign |
Het |
| Chd5 |
A |
G |
4: 152,469,916 (GRCm39) |
S1830G |
probably damaging |
Het |
| Col20a1 |
T |
C |
2: 180,641,538 (GRCm39) |
M660T |
probably benign |
Het |
| Dnajc6 |
G |
A |
4: 101,470,258 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,857,962 (GRCm39) |
S1451P |
unknown |
Het |
| Ehd4 |
A |
G |
2: 119,967,440 (GRCm39) |
V118A |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,206,953 (GRCm39) |
D139G |
probably damaging |
Het |
| Fer1l6 |
G |
A |
15: 58,515,715 (GRCm39) |
E1601K |
possibly damaging |
Het |
| Fermt3 |
A |
T |
19: 6,991,785 (GRCm39) |
L142Q |
probably damaging |
Het |
| Gfral |
A |
T |
9: 76,104,372 (GRCm39) |
N213K |
possibly damaging |
Het |
| Gria4 |
A |
G |
9: 4,424,412 (GRCm39) |
F818L |
probably damaging |
Het |
| H2-Eb1 |
A |
T |
17: 34,528,831 (GRCm39) |
R121* |
probably null |
Het |
| Hoxd9 |
A |
G |
2: 74,529,761 (GRCm39) |
D339G |
unknown |
Het |
| Hpn |
G |
T |
7: 30,808,402 (GRCm39) |
P78T |
probably benign |
Het |
| Inpp4b |
T |
A |
8: 82,610,782 (GRCm39) |
V175E |
possibly damaging |
Het |
| Itpr2 |
A |
G |
6: 146,276,099 (GRCm39) |
L736P |
probably damaging |
Het |
| Klhl6 |
G |
T |
16: 19,775,772 (GRCm39) |
P262Q |
probably damaging |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Mc5r |
A |
T |
18: 68,472,205 (GRCm39) |
Y188F |
probably damaging |
Het |
| Mob1b |
T |
C |
5: 88,904,017 (GRCm39) |
S218P |
probably benign |
Het |
| Mrgprb2 |
T |
C |
7: 48,201,982 (GRCm39) |
I248V |
possibly damaging |
Het |
| Muc5ac |
T |
C |
7: 141,363,529 (GRCm39) |
I2280T |
unknown |
Het |
| Or1e29 |
A |
T |
11: 73,667,881 (GRCm39) |
S91T |
probably benign |
Het |
| Or2ah1 |
T |
A |
2: 85,653,318 (GRCm39) |
M1K |
probably null |
Het |
| Or2o1 |
G |
T |
11: 49,051,261 (GRCm39) |
W140L |
probably damaging |
Het |
| Or5j3 |
A |
T |
2: 86,128,330 (GRCm39) |
T57S |
probably benign |
Het |
| Pcdhga8 |
T |
A |
18: 37,860,465 (GRCm39) |
I507N |
probably damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,767,408 (GRCm39) |
D1294G |
possibly damaging |
Het |
| Psg28 |
A |
G |
7: 18,164,640 (GRCm39) |
L24P |
probably damaging |
Het |
| Ptk2 |
A |
T |
15: 73,087,933 (GRCm39) |
D868E |
probably benign |
Het |
| Ptpn6 |
G |
C |
6: 124,705,135 (GRCm39) |
R264G |
possibly damaging |
Het |
| Rnf10 |
T |
A |
5: 115,398,249 (GRCm39) |
M95L |
probably benign |
Het |
| Rnf40 |
C |
T |
7: 127,190,993 (GRCm39) |
T326I |
probably damaging |
Het |
| Rp1 |
G |
T |
1: 4,416,720 (GRCm39) |
T1464K |
probably benign |
Het |
| Satb1 |
T |
C |
17: 52,047,053 (GRCm39) |
E723G |
probably benign |
Het |
| Scgb3a2 |
T |
A |
18: 43,900,445 (GRCm39) |
|
probably benign |
Het |
| Sidt2 |
A |
G |
9: 45,858,280 (GRCm39) |
|
probably null |
Het |
| Sorcs1 |
A |
T |
19: 50,213,658 (GRCm39) |
C690S |
probably damaging |
Het |
| Spag16 |
T |
A |
1: 69,962,873 (GRCm39) |
M340K |
probably benign |
Het |
| Stk3 |
A |
G |
15: 35,099,611 (GRCm39) |
V107A |
probably damaging |
Het |
| Tlr1 |
T |
A |
5: 65,083,653 (GRCm39) |
H308L |
probably benign |
Het |
| Tmx2 |
A |
G |
2: 84,503,907 (GRCm39) |
F162S |
probably damaging |
Het |
| Zbtb49 |
T |
A |
5: 38,363,246 (GRCm39) |
I446F |
probably damaging |
Het |
| Zdhhc17 |
A |
T |
10: 110,783,189 (GRCm39) |
I493N |
probably damaging |
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 |
|
R5289:Vmn2r57
|
UTSW |
7 |
41,049,398 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- TTTTATAGAAAGGCAGTGCAGTGAG -3'
(R):5'- ACTCAACCATCTTGATGACTCC -3'
Sequencing Primer
(F):5'- ACTTTTGTAAACTGTGTCGGCC -3'
(R):5'- CAACCATCTTGATGACTCCTTTATAG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation