Incidental Mutation 'R3613:Vmn1r27'
ID |
269281 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn1r27
|
Ensembl Gene |
ENSMUSG00000071428 |
Gene Name |
vomeronasal 1 receptor 27 |
Synonyms |
V1rc33 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.159)
|
Stock # |
R3613 (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 T
at 58192787 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 72
(N72K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154236
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095862]
[ENSMUST00000226666]
[ENSMUST00000228530]
|
AlphaFold |
K7N688 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095862
AA Change: N72K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000093547 Gene: ENSMUSG00000071428 AA Change: N72K
Domain | Start | End | E-Value | Type |
Pfam:V1R
|
28 |
293 |
4.2e-51 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000226666
AA Change: N22K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228530
AA Change: N72K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 17 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc4 |
C |
T |
14: 118,864,863 (GRCm39) |
|
probably null |
Het |
Ccdc110 |
T |
A |
8: 46,395,843 (GRCm39) |
M578K |
possibly damaging |
Het |
Ctsh |
A |
C |
9: 89,957,763 (GRCm39) |
M281L |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Hinfp |
T |
C |
9: 44,209,041 (GRCm39) |
H359R |
probably damaging |
Het |
Hps5 |
A |
G |
7: 46,426,298 (GRCm39) |
|
probably null |
Het |
Lsamp |
T |
C |
16: 41,775,686 (GRCm39) |
V179A |
probably benign |
Het |
Nr1i3 |
T |
A |
1: 171,042,564 (GRCm39) |
C63* |
probably null |
Het |
Or6c5c |
A |
T |
10: 129,298,937 (GRCm39) |
T131S |
probably benign |
Het |
Pdk2 |
T |
C |
11: 94,918,072 (GRCm39) |
E387G |
probably benign |
Het |
Pelp1 |
T |
C |
11: 70,286,261 (GRCm39) |
N572S |
probably benign |
Het |
Rdh16f2 |
A |
T |
10: 127,710,808 (GRCm39) |
I142F |
probably benign |
Het |
Sdk1 |
A |
T |
5: 142,105,441 (GRCm39) |
H1515L |
probably damaging |
Het |
Sema5b |
C |
T |
16: 35,480,520 (GRCm39) |
T729I |
probably benign |
Het |
Tgfbi |
G |
A |
13: 56,773,539 (GRCm39) |
R179Q |
probably damaging |
Het |
Vps13a |
G |
A |
19: 16,662,766 (GRCm39) |
T1573M |
probably damaging |
Het |
Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
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 |
R4192:Vmn1r27
|
UTSW |
6 |
58,192,812 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- TAGAAGATCCGGCTACTACTGTATG -3'
(R):5'- GAATGTCCTTTATTTCCAAGCTGG -3'
Sequencing Primer
(F):5'- CCGGCTACTACTGTATGAAAAACTG -3'
(R):5'- GACTTGGAGTCCTAGCAAATATGTC -3'
|
Posted On |
2015-02-19 |