Incidental Mutation 'R6987:Vmn1r69'
ID |
543022 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn1r69
|
Ensembl Gene |
ENSMUSG00000091662 |
Gene Name |
vomeronasal 1 receptor 69 |
Synonyms |
V1re9 |
MMRRC Submission |
045094-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R6987 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
10313683-10315414 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to G
at 10314491 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 1
(M1T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154473
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163658]
[ENSMUST00000176284]
[ENSMUST00000176707]
[ENSMUST00000226160]
[ENSMUST00000226190]
[ENSMUST00000226228]
[ENSMUST00000227853]
[ENSMUST00000228296]
[ENSMUST00000228478]
[ENSMUST00000228638]
|
AlphaFold |
Q8VIC1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163658
AA Change: M80T
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000129646 Gene: ENSMUSG00000091662 AA Change: M80T
Domain | Start | End | E-Value | Type |
Pfam:V1R
|
50 |
307 |
3.3e-32 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176284
AA Change: M80T
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176707
AA Change: M80T
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226160
AA Change: M80T
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226190
AA Change: M80T
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226228
AA Change: M80T
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000227853
AA Change: M1T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000228296
AA Change: M1T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000228478
AA Change: M1T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000228638
AA Change: M1T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
Meta Mutation Damage Score |
0.7274 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.9%
|
Validation Efficiency |
100% (47/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam10 |
A |
G |
9: 70,629,978 (GRCm39) |
I137V |
probably benign |
Het |
Agtr1b |
A |
C |
3: 20,370,585 (GRCm39) |
I7S |
probably benign |
Het |
Akt2 |
G |
T |
7: 27,332,666 (GRCm39) |
V215L |
probably damaging |
Het |
Ccdc148 |
C |
A |
2: 58,872,926 (GRCm39) |
L294F |
probably damaging |
Het |
Ccdc3 |
T |
A |
2: 5,143,115 (GRCm39) |
V124E |
possibly damaging |
Het |
Cldnd1 |
A |
G |
16: 58,551,734 (GRCm39) |
D121G |
probably benign |
Het |
Cnr1 |
A |
G |
4: 33,944,739 (GRCm39) |
I376V |
probably benign |
Het |
Cyp2c40 |
A |
G |
19: 39,801,211 (GRCm39) |
|
probably benign |
Het |
Dnah8 |
A |
G |
17: 30,881,065 (GRCm39) |
I601V |
possibly damaging |
Het |
Dnhd1 |
C |
A |
7: 105,353,792 (GRCm39) |
H2982N |
probably damaging |
Het |
Elavl4 |
A |
T |
4: 110,108,602 (GRCm39) |
D55E |
possibly damaging |
Het |
Enc1 |
T |
C |
13: 97,382,144 (GRCm39) |
I218T |
probably benign |
Het |
Fbln2 |
T |
A |
6: 91,211,211 (GRCm39) |
V385D |
probably benign |
Het |
Ffar2 |
A |
G |
7: 30,519,108 (GRCm39) |
V144A |
possibly damaging |
Het |
Fsip2 |
C |
T |
2: 82,778,630 (GRCm39) |
Q159* |
probably null |
Het |
Golga4 |
A |
G |
9: 118,387,600 (GRCm39) |
H1574R |
probably benign |
Het |
Herc2 |
G |
A |
7: 55,756,201 (GRCm39) |
R747H |
possibly damaging |
Het |
Lama4 |
A |
G |
10: 38,950,275 (GRCm39) |
N985D |
probably benign |
Het |
Lrp1 |
T |
C |
10: 127,410,874 (GRCm39) |
N1438S |
probably damaging |
Het |
Masp1 |
C |
A |
16: 23,332,665 (GRCm39) |
V57F |
probably damaging |
Het |
Mypn |
T |
C |
10: 63,028,910 (GRCm39) |
E51G |
probably benign |
Het |
Nos1 |
C |
T |
5: 118,033,850 (GRCm39) |
T324M |
probably benign |
Het |
Npas3 |
A |
G |
12: 54,115,036 (GRCm39) |
K635E |
possibly damaging |
Het |
Or5p4 |
C |
A |
7: 107,680,338 (GRCm39) |
C112* |
probably null |
Het |
Or8b12i |
A |
T |
9: 20,082,130 (GRCm39) |
S246T |
probably benign |
Het |
Osbp2 |
T |
C |
11: 3,667,958 (GRCm39) |
E13G |
probably damaging |
Het |
Pira12 |
A |
G |
7: 3,900,660 (GRCm39) |
I30T |
probably damaging |
Het |
Pkd1l1 |
A |
G |
11: 8,852,575 (GRCm39) |
M636T |
probably benign |
Het |
Pla2g4e |
C |
T |
2: 120,016,861 (GRCm39) |
A227T |
probably benign |
Het |
Prex2 |
C |
A |
1: 11,240,976 (GRCm39) |
A1028E |
probably damaging |
Het |
Prr14 |
A |
G |
7: 127,072,977 (GRCm39) |
D49G |
possibly damaging |
Het |
Slc9a9 |
A |
G |
9: 94,552,043 (GRCm39) |
|
probably benign |
Het |
Sptb |
A |
G |
12: 76,660,021 (GRCm39) |
C960R |
probably benign |
Het |
Taf15 |
C |
A |
11: 83,375,521 (GRCm39) |
T31K |
possibly damaging |
Het |
Tdrd9 |
C |
A |
12: 111,992,027 (GRCm39) |
Q601K |
possibly damaging |
Het |
Tes |
C |
A |
6: 17,086,154 (GRCm39) |
Q16K |
probably benign |
Het |
Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
Tmem168 |
T |
A |
6: 13,591,476 (GRCm39) |
M63L |
possibly damaging |
Het |
Trav14-1 |
C |
T |
14: 53,791,916 (GRCm39) |
R89* |
probably null |
Het |
Trp53bp2 |
A |
T |
1: 182,274,200 (GRCm39) |
Y615F |
probably damaging |
Het |
Ttc27 |
T |
C |
17: 75,084,736 (GRCm39) |
|
probably null |
Het |
Usp25 |
T |
A |
16: 76,874,068 (GRCm39) |
V548E |
probably damaging |
Het |
Vmn1r124 |
A |
T |
7: 20,993,743 (GRCm39) |
I267K |
probably benign |
Het |
Zfp729a |
T |
A |
13: 67,768,058 (GRCm39) |
K724* |
probably null |
Het |
Zfp850 |
A |
T |
7: 27,689,426 (GRCm39) |
C261S |
probably damaging |
Het |
Zfp882 |
T |
A |
8: 72,668,517 (GRCm39) |
V448E |
probably benign |
Het |
Zzef1 |
A |
G |
11: 72,746,340 (GRCm39) |
M881V |
possibly damaging |
Het |
|
Other mutations in Vmn1r69 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00155:Vmn1r69
|
APN |
7 |
10,313,879 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01972:Vmn1r69
|
APN |
7 |
10,314,586 (GRCm39) |
nonsense |
probably null |
|
IGL02339:Vmn1r69
|
APN |
7 |
10,314,645 (GRCm39) |
nonsense |
probably null |
|
IGL02424:Vmn1r69
|
APN |
7 |
10,314,585 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02602:Vmn1r69
|
APN |
7 |
10,313,901 (GRCm39) |
missense |
probably benign |
0.14 |
IGL03271:Vmn1r69
|
APN |
7 |
10,314,596 (GRCm39) |
missense |
probably benign |
0.11 |
R0034:Vmn1r69
|
UTSW |
7 |
10,314,738 (GRCm39) |
intron |
probably benign |
|
R0052:Vmn1r69
|
UTSW |
7 |
10,314,327 (GRCm39) |
missense |
probably benign |
0.00 |
R0096:Vmn1r69
|
UTSW |
7 |
10,313,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R0539:Vmn1r69
|
UTSW |
7 |
10,314,874 (GRCm39) |
splice site |
probably benign |
|
R0604:Vmn1r69
|
UTSW |
7 |
10,314,581 (GRCm39) |
missense |
probably benign |
0.00 |
R1681:Vmn1r69
|
UTSW |
7 |
10,314,179 (GRCm39) |
missense |
probably benign |
0.06 |
R1884:Vmn1r69
|
UTSW |
7 |
10,314,678 (GRCm39) |
missense |
probably benign |
0.00 |
R3741:Vmn1r69
|
UTSW |
7 |
10,314,069 (GRCm39) |
missense |
possibly damaging |
0.47 |
R4655:Vmn1r69
|
UTSW |
7 |
10,314,026 (GRCm39) |
missense |
probably benign |
0.03 |
R4735:Vmn1r69
|
UTSW |
7 |
10,314,926 (GRCm39) |
utr 5 prime |
probably benign |
|
R4758:Vmn1r69
|
UTSW |
7 |
10,314,473 (GRCm39) |
missense |
probably benign |
0.00 |
R5582:Vmn1r69
|
UTSW |
7 |
10,314,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R5966:Vmn1r69
|
UTSW |
7 |
10,314,717 (GRCm39) |
missense |
probably benign |
0.00 |
R5977:Vmn1r69
|
UTSW |
7 |
10,314,417 (GRCm39) |
missense |
probably damaging |
1.00 |
R6458:Vmn1r69
|
UTSW |
7 |
10,314,365 (GRCm39) |
missense |
probably benign |
|
R7133:Vmn1r69
|
UTSW |
7 |
10,314,995 (GRCm39) |
intron |
probably benign |
|
R7532:Vmn1r69
|
UTSW |
7 |
10,314,281 (GRCm39) |
missense |
probably damaging |
0.98 |
R7878:Vmn1r69
|
UTSW |
7 |
10,314,717 (GRCm39) |
missense |
probably benign |
0.00 |
R9100:Vmn1r69
|
UTSW |
7 |
10,314,064 (GRCm39) |
missense |
probably damaging |
0.98 |
R9558:Vmn1r69
|
UTSW |
7 |
10,314,185 (GRCm39) |
missense |
probably benign |
|
Z1176:Vmn1r69
|
UTSW |
7 |
10,314,023 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAAGGAGTAGCCAACGTAC -3'
(R):5'- TCGAAGATGGATTTCCGGAATC -3'
Sequencing Primer
(F):5'- GTAGCCAACGTACTTTGCAG -3'
(R):5'- GATTTCCGGAATCTGGCAATC -3'
|
Posted On |
2018-11-28 |