Incidental Mutation 'R4192:Vmn1r27'
| ID |
318351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r27
|
| Ensembl Gene |
ENSMUSG00000071428 |
| Gene Name |
vomeronasal 1 receptor 27 |
| Synonyms |
V1rc33 |
| MMRRC Submission |
041023-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R4192 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
58192091-58193002 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 58192812 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Arginine
at position 14
(I14R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154455
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095862]
[ENSMUST00000226666]
[ENSMUST00000228530]
|
| AlphaFold |
K7N688 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095862
AA Change: I64R
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000093547
Gene: ENSMUSG00000071428
AA Change: I64R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
28 |
293 |
4.2e-51 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226666
AA Change: I14R
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228530
AA Change: I64R
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
G |
T |
14: 35,818,536 (GRCm39) |
R178L |
possibly damaging |
Het |
| Acot4 |
T |
C |
12: 84,089,948 (GRCm39) |
|
probably benign |
Het |
| Add3 |
C |
A |
19: 53,230,955 (GRCm39) |
D543E |
probably benign |
Het |
| Angpt4 |
A |
C |
2: 151,785,238 (GRCm39) |
D418A |
probably benign |
Het |
| Ano8 |
A |
T |
8: 71,935,936 (GRCm39) |
V260D |
probably damaging |
Het |
| Cfh |
C |
T |
1: 140,030,454 (GRCm39) |
R860H |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,710,667 (GRCm39) |
D1536G |
probably damaging |
Het |
| Dnajb9 |
A |
T |
12: 44,253,860 (GRCm39) |
D182E |
probably benign |
Het |
| Epb42 |
G |
T |
2: 120,860,570 (GRCm39) |
|
probably null |
Het |
| Fam185a |
T |
A |
5: 21,630,122 (GRCm39) |
|
probably benign |
Het |
| Fer1l6 |
A |
G |
15: 58,518,998 (GRCm39) |
D1710G |
probably damaging |
Het |
| Gabra2 |
G |
A |
5: 71,165,341 (GRCm39) |
P210S |
probably benign |
Het |
| Gm8369 |
C |
T |
19: 11,479,596 (GRCm39) |
P9S |
probably damaging |
Het |
| Il17ra |
A |
G |
6: 120,458,472 (GRCm39) |
D541G |
probably damaging |
Het |
| Ints4 |
T |
G |
7: 97,156,940 (GRCm39) |
H337Q |
probably damaging |
Het |
| Itgam |
A |
G |
7: 127,663,904 (GRCm39) |
T44A |
probably benign |
Het |
| Lyst |
C |
A |
13: 13,915,098 (GRCm39) |
T3264N |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,366,835 (GRCm39) |
F1077S |
possibly damaging |
Het |
| Myo3a |
T |
A |
2: 22,412,188 (GRCm39) |
F728I |
probably damaging |
Het |
| Nacad |
T |
C |
11: 6,555,534 (GRCm39) |
E72G |
probably benign |
Het |
| Nkain3 |
G |
A |
4: 20,485,003 (GRCm39) |
Q25* |
probably null |
Het |
| Oca2 |
T |
C |
7: 55,946,997 (GRCm39) |
F342S |
probably damaging |
Het |
| Or10d1c |
T |
A |
9: 38,894,313 (GRCm39) |
Q9L |
probably benign |
Het |
| Osbpl6 |
T |
A |
2: 76,415,573 (GRCm39) |
L499Q |
probably damaging |
Het |
| Pcdhgb8 |
G |
C |
18: 37,896,594 (GRCm39) |
D555H |
probably damaging |
Het |
| Peak1 |
A |
T |
9: 56,166,025 (GRCm39) |
N634K |
probably damaging |
Het |
| Pitpnm3 |
T |
C |
11: 71,942,785 (GRCm39) |
K818R |
possibly damaging |
Het |
| Rab3gap1 |
T |
A |
1: 127,853,207 (GRCm39) |
|
probably benign |
Het |
| Rcc1l |
T |
C |
5: 134,184,648 (GRCm39) |
T385A |
probably benign |
Het |
| Rrm2 |
T |
C |
12: 24,758,377 (GRCm39) |
I11T |
probably benign |
Het |
| Scnn1b |
A |
G |
7: 121,501,962 (GRCm39) |
T207A |
possibly damaging |
Het |
| Spata31f3 |
A |
T |
4: 42,874,185 (GRCm39) |
|
probably benign |
Het |
| Syt12 |
T |
A |
19: 4,497,709 (GRCm39) |
|
probably benign |
Het |
| Tmprss6 |
A |
T |
15: 78,330,857 (GRCm39) |
|
probably null |
Het |
| Ttbk1 |
A |
T |
17: 46,790,173 (GRCm39) |
C91S |
probably damaging |
Het |
| Ube2q2l |
T |
C |
6: 136,378,435 (GRCm39) |
T132A |
probably benign |
Het |
| Vit |
A |
G |
17: 78,894,255 (GRCm39) |
H219R |
probably benign |
Het |
|
| Other mutations in Vmn1r27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00160:Vmn1r27
|
APN |
6 |
58,192,119 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01548:Vmn1r27
|
APN |
6 |
58,192,538 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02662:Vmn1r27
|
APN |
6 |
58,192,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02726:Vmn1r27
|
APN |
6 |
58,192,854 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02795:Vmn1r27
|
APN |
6 |
58,192,287 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03241:Vmn1r27
|
APN |
6 |
58,192,126 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03373:Vmn1r27
|
APN |
6 |
58,192,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0119:Vmn1r27
|
UTSW |
6 |
58,192,704 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0124:Vmn1r27
|
UTSW |
6 |
58,192,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0136:Vmn1r27
|
UTSW |
6 |
58,192,704 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R3613:Vmn1r27
|
UTSW |
6 |
58,192,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4556:Vmn1r27
|
UTSW |
6 |
58,192,804 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4831:Vmn1r27
|
UTSW |
6 |
58,192,827 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5354:Vmn1r27
|
UTSW |
6 |
58,192,581 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5813:Vmn1r27
|
UTSW |
6 |
58,192,985 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6856:Vmn1r27
|
UTSW |
6 |
58,192,432 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7653:Vmn1r27
|
UTSW |
6 |
58,192,879 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7653:Vmn1r27
|
UTSW |
6 |
58,192,785 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8089:Vmn1r27
|
UTSW |
6 |
58,192,194 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8177:Vmn1r27
|
UTSW |
6 |
58,192,759 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9123:Vmn1r27
|
UTSW |
6 |
58,192,416 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9125:Vmn1r27
|
UTSW |
6 |
58,192,416 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9372:Vmn1r27
|
UTSW |
6 |
58,192,746 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9422:Vmn1r27
|
UTSW |
6 |
58,192,867 (GRCm39) |
missense |
probably benign |
0.23 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAACATAGAAGATCCGGCTACTAC -3'
(R):5'- GAATGTCCTTTATTTCCAAGCTGG -3'
Sequencing Primer
(F):5'- GAAGATCCGGCTACTACTGTATG -3'
(R):5'- GACTTGGAGTCCTAGCAAATATGTC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation