Incidental Mutation 'R7634:Vmn2r54'
| ID |
589813 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r54
|
| Ensembl Gene |
ENSMUSG00000096593 |
| Gene Name |
vomeronasal 2, receptor 54 |
| Synonyms |
|
| MMRRC Submission |
045693-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R7634 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
12349160-12374167 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 12349630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 651
(P651S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083386
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086210]
|
| AlphaFold |
A0A3B2W422 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086210
AA Change: P651S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083386
Gene: ENSMUSG00000096593
AA Change: P651S
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (58/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
A |
T |
8: 60,969,102 (GRCm39) |
M116L |
probably benign |
Het |
| Adam25 |
A |
G |
8: 41,207,883 (GRCm39) |
D383G |
probably benign |
Het |
| Adam26b |
T |
A |
8: 43,974,034 (GRCm39) |
M323L |
probably benign |
Het |
| Adgrf3 |
T |
C |
5: 30,407,245 (GRCm39) |
H227R |
probably benign |
Het |
| Antxr1 |
G |
A |
6: 87,114,273 (GRCm39) |
T498I |
probably benign |
Het |
| Arg1 |
T |
A |
10: 24,791,627 (GRCm39) |
T285S |
possibly damaging |
Het |
| Arhgdig |
T |
C |
17: 26,418,365 (GRCm39) |
D206G |
probably damaging |
Het |
| Asb10 |
C |
A |
5: 24,745,875 (GRCm39) |
C17F |
possibly damaging |
Het |
| Atg2b |
T |
C |
12: 105,618,379 (GRCm39) |
D891G |
probably damaging |
Het |
| Cacna1h |
A |
T |
17: 25,611,083 (GRCm39) |
S572T |
possibly damaging |
Het |
| Cenpj |
T |
C |
14: 56,780,257 (GRCm39) |
T985A |
probably benign |
Het |
| Cfap65 |
G |
T |
1: 74,941,593 (GRCm39) |
N1780K |
probably damaging |
Het |
| Cyp26c1 |
T |
C |
19: 37,681,447 (GRCm39) |
Y417H |
probably damaging |
Het |
| Dnajb13 |
G |
T |
7: 100,152,393 (GRCm39) |
Q308K |
probably benign |
Het |
| Fam107b |
T |
C |
2: 3,771,777 (GRCm39) |
S3P |
possibly damaging |
Het |
| Gm3127 |
A |
G |
14: 15,425,787 (GRCm39) |
N64S |
probably damaging |
Het |
| Gm4847 |
A |
C |
1: 166,460,249 (GRCm39) |
N412K |
probably benign |
Het |
| Gtf3c3 |
A |
T |
1: 54,458,800 (GRCm39) |
|
probably null |
Het |
| Guf1 |
T |
C |
5: 69,721,887 (GRCm39) |
S349P |
probably damaging |
Het |
| Hvcn1 |
A |
G |
5: 122,371,586 (GRCm39) |
Y42C |
probably damaging |
Het |
| Insm1 |
A |
G |
2: 146,065,027 (GRCm39) |
Y281C |
probably damaging |
Het |
| Lrrc71 |
A |
G |
3: 87,650,281 (GRCm39) |
I264T |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,036,462 (GRCm39) |
N897S |
probably damaging |
Het |
| Mtmr6 |
T |
A |
14: 60,533,596 (GRCm39) |
F375I |
probably damaging |
Het |
| Mtor |
G |
C |
4: 148,536,807 (GRCm39) |
S27T |
possibly damaging |
Het |
| Mylk4 |
T |
A |
13: 32,892,891 (GRCm39) |
K387N |
possibly damaging |
Het |
| Nadk2 |
T |
G |
15: 9,092,935 (GRCm39) |
D247E |
probably benign |
Het |
| Nfya |
T |
C |
17: 48,699,445 (GRCm39) |
T213A |
probably damaging |
Het |
| Nlrp1a |
A |
G |
11: 70,990,354 (GRCm39) |
V1067A |
probably benign |
Het |
| Nrbp2 |
C |
T |
15: 75,959,257 (GRCm39) |
R206Q |
possibly damaging |
Het |
| Oas2 |
A |
G |
5: 120,871,293 (GRCm39) |
V722A |
probably benign |
Het |
| Odad4 |
G |
A |
11: 100,452,731 (GRCm39) |
|
probably null |
Het |
| Or4c108 |
G |
T |
2: 88,804,001 (GRCm39) |
P78Q |
probably damaging |
Het |
| Pcdhb2 |
G |
T |
18: 37,428,000 (GRCm39) |
|
probably benign |
Het |
| Pdpr |
T |
A |
8: 111,852,317 (GRCm39) |
H561Q |
probably damaging |
Het |
| Plcz1 |
A |
G |
6: 139,961,853 (GRCm39) |
F233L |
probably damaging |
Het |
| Ppp1r3d |
A |
G |
2: 178,055,165 (GRCm39) |
I279T |
probably damaging |
Het |
| Psg17 |
A |
G |
7: 18,548,416 (GRCm39) |
Y452H |
probably damaging |
Het |
| Reg4 |
T |
C |
3: 98,140,428 (GRCm39) |
|
probably null |
Het |
| Rint1 |
A |
G |
5: 24,010,477 (GRCm39) |
T229A |
probably benign |
Het |
| Robo1 |
T |
G |
16: 72,839,866 (GRCm39) |
|
probably null |
Het |
| Slc22a26 |
A |
C |
19: 7,779,952 (GRCm39) |
|
probably null |
Het |
| Slc22a7 |
C |
T |
17: 46,749,156 (GRCm39) |
A54T |
probably benign |
Het |
| Slc52a3 |
C |
A |
2: 151,846,534 (GRCm39) |
T165N |
possibly damaging |
Het |
| Slc7a11 |
C |
T |
3: 50,378,486 (GRCm39) |
|
probably null |
Het |
| Smap2 |
T |
C |
4: 120,873,996 (GRCm39) |
N18S |
probably benign |
Het |
| Spag6l |
T |
C |
16: 16,595,278 (GRCm39) |
E369G |
probably damaging |
Het |
| Tars3 |
T |
A |
7: 65,325,760 (GRCm39) |
Y445N |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tmprss7 |
C |
T |
16: 45,483,637 (GRCm39) |
G579D |
probably benign |
Het |
| Tpi1 |
T |
A |
6: 124,789,817 (GRCm39) |
K109* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,628,856 (GRCm39) |
E14466G |
possibly damaging |
Het |
| Usp40 |
A |
T |
1: 87,890,152 (GRCm39) |
C903* |
probably null |
Het |
| Vinac1 |
T |
A |
2: 128,880,192 (GRCm39) |
D578V |
|
Het |
| Vmn2r104 |
T |
A |
17: 20,261,971 (GRCm39) |
L386F |
possibly damaging |
Het |
| Wnk4 |
C |
A |
11: 101,153,721 (GRCm39) |
T261K |
probably damaging |
Het |
| Wnt2b |
T |
C |
3: 104,854,432 (GRCm39) |
Y342C |
probably damaging |
Het |
| Zbtb8b |
A |
G |
4: 129,326,755 (GRCm39) |
Y137H |
probably damaging |
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 |
|
R7236:Vmn2r54
|
UTSW |
7 |
12,365,917 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
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 |
|
|
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'- TGTCCAGACACTACAGAAGAGC -3'
(R):5'- TGGTATTCACAGTGGCTGTC -3'
Sequencing Primer
(F):5'- CTGAAGGTGAGGAACTTGGTCTC -3'
(R):5'- GGTATTCACAGTGGCTGTCTCCTC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation