Incidental Mutation 'R4556:Vmn1r27'
ID |
341866 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn1r27
|
Ensembl Gene |
ENSMUSG00000071428 |
Gene Name |
vomeronasal 1 receptor 27 |
Synonyms |
V1rc33 |
MMRRC Submission |
041597-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.120)
|
Stock # |
R4556 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
58192091-58193002 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 58192804 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 67
(S67P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154236
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095862]
[ENSMUST00000226666]
[ENSMUST00000228530]
|
AlphaFold |
K7N688 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095862
AA Change: S67P
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000093547 Gene: ENSMUSG00000071428 AA Change: S67P
Domain | Start | End | E-Value | Type |
Pfam:V1R
|
28 |
293 |
4.2e-51 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226666
AA Change: S17P
PolyPhen 2
Score 0.327 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228530
AA Change: S67P
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830005F24Rik |
T |
C |
13: 48,667,937 (GRCm39) |
|
probably benign |
Het |
Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
Adamts17 |
A |
T |
7: 66,677,641 (GRCm39) |
E518D |
probably damaging |
Het |
Cdk5rap2 |
A |
G |
4: 70,157,549 (GRCm39) |
S1601P |
probably damaging |
Het |
Erc2 |
A |
C |
14: 28,024,861 (GRCm39) |
D580A |
probably damaging |
Het |
Fbxo4 |
A |
G |
15: 3,995,187 (GRCm39) |
*386R |
probably null |
Het |
Fbxo42 |
T |
A |
4: 140,926,321 (GRCm39) |
H334Q |
probably damaging |
Het |
Gdf5 |
A |
G |
2: 155,783,782 (GRCm39) |
R24G |
probably benign |
Het |
Lama3 |
G |
T |
18: 12,612,816 (GRCm39) |
R1200L |
possibly damaging |
Het |
Lxn |
T |
A |
3: 67,365,953 (GRCm39) |
I182F |
possibly damaging |
Het |
Mbd5 |
G |
A |
2: 49,169,406 (GRCm39) |
G1526R |
probably damaging |
Het |
Mcub |
G |
A |
3: 129,709,384 (GRCm39) |
Q310* |
probably null |
Het |
Ndufaf7 |
T |
C |
17: 79,249,516 (GRCm39) |
S138P |
probably benign |
Het |
Nktr |
A |
G |
9: 121,570,189 (GRCm39) |
T90A |
probably damaging |
Het |
Nr1h5 |
G |
A |
3: 102,853,457 (GRCm39) |
A350V |
probably benign |
Het |
Or1e29 |
G |
A |
11: 73,667,307 (GRCm39) |
T282I |
possibly damaging |
Het |
Or7e174 |
T |
C |
9: 20,012,619 (GRCm39) |
L188P |
possibly damaging |
Het |
Pros1 |
A |
G |
16: 62,721,036 (GRCm39) |
K197R |
possibly damaging |
Het |
Rmnd5b |
G |
T |
11: 51,517,732 (GRCm39) |
|
probably null |
Het |
Rnf25 |
A |
T |
1: 74,638,264 (GRCm39) |
I26N |
probably damaging |
Het |
Scn4a |
T |
C |
11: 106,211,272 (GRCm39) |
I1582V |
probably benign |
Het |
Sh2d3c |
A |
G |
2: 32,643,021 (GRCm39) |
T583A |
possibly damaging |
Het |
Sh3tc1 |
T |
C |
5: 35,864,426 (GRCm39) |
Y587C |
probably damaging |
Het |
Slc6a11 |
A |
G |
6: 114,221,773 (GRCm39) |
S488G |
probably benign |
Het |
Smim22 |
T |
A |
16: 4,825,730 (GRCm39) |
F38L |
possibly damaging |
Het |
Stab2 |
T |
G |
10: 86,803,543 (GRCm39) |
E335D |
possibly damaging |
Het |
Tas2r102 |
T |
C |
6: 132,739,878 (GRCm39) |
F262S |
probably damaging |
Het |
Thap12 |
A |
G |
7: 98,365,052 (GRCm39) |
N407D |
probably benign |
Het |
Tmem225 |
T |
C |
9: 40,060,762 (GRCm39) |
F107S |
probably damaging |
Het |
Vmn1r229 |
T |
A |
17: 21,034,953 (GRCm39) |
V66E |
possibly damaging |
Het |
Xrcc4 |
A |
T |
13: 90,140,623 (GRCm39) |
H195Q |
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 |
R4192:Vmn1r27
|
UTSW |
6 |
58,192,812 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- TAGAAGATCCGGCTACTACTGTATG -3'
(R):5'- GAATGTCCTTTATTTCCAAGCTGG -3'
Sequencing Primer
(F):5'- CCGGCTACTACTGTATGAAAAACTG -3'
(R):5'- GACTTGGAGTCCTAGCAAATATGTC -3'
|
Posted On |
2015-09-24 |