Incidental Mutation 'R6549:Vmn1r31'
ID |
521435 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn1r31
|
Ensembl Gene |
ENSMUSG00000115404 |
Gene Name |
vomeronasal 1 receptor 31 |
Synonyms |
Gm6709 |
MMRRC Submission |
044674-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.135)
|
Stock # |
R6549 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
58448952-58449863 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 58449648 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 72
(N72K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153749
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000176023]
[ENSMUST00000176147]
[ENSMUST00000176177]
[ENSMUST00000177318]
[ENSMUST00000226390]
[ENSMUST00000228586]
|
AlphaFold |
H3BKW5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176023
AA Change: N23K
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000135252 Gene: ENSMUSG00000115404 AA Change: N23K
Domain | Start | End | E-Value | Type |
Pfam:V1R
|
1 |
58 |
1.9e-14 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176147
AA Change: N23K
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000135282 Gene: ENSMUSG00000115404 AA Change: N23K
Domain | Start | End | E-Value | Type |
Pfam:V1R
|
1 |
58 |
1.9e-14 |
PFAM |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000135472 Gene: ENSMUSG00000093379 AA Change: N72K
Domain | Start | End | E-Value | Type |
Pfam:V1R
|
28 |
293 |
4.7e-56 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177318
AA Change: N72K
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000135555 Gene: ENSMUSG00000115404 AA Change: N72K
Domain | Start | End | E-Value | Type |
Pfam:V1R
|
28 |
107 |
1.9e-18 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204999
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226390
AA Change: N72K
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228586
AA Change: N72K
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atm |
T |
C |
9: 53,404,477 (GRCm39) |
D1288G |
probably benign |
Het |
Atxn7 |
T |
C |
14: 14,013,087 (GRCm38) |
S2P |
probably damaging |
Het |
C1rl |
T |
A |
6: 124,485,487 (GRCm39) |
I286N |
probably benign |
Het |
Ccdc54 |
T |
C |
16: 50,410,388 (GRCm39) |
R293G |
possibly damaging |
Het |
Cndp1 |
A |
T |
18: 84,654,309 (GRCm39) |
I85K |
probably benign |
Het |
Col25a1 |
A |
G |
3: 129,976,444 (GRCm39) |
T110A |
probably benign |
Het |
Defb8 |
G |
T |
8: 19,497,560 (GRCm39) |
P17Q |
probably damaging |
Het |
Dnah1 |
A |
T |
14: 30,991,340 (GRCm39) |
L3146Q |
probably damaging |
Het |
Espn |
A |
T |
4: 152,215,525 (GRCm39) |
M1K |
probably null |
Het |
Gm9922 |
C |
A |
14: 101,966,893 (GRCm39) |
|
probably benign |
Het |
Hycc2 |
T |
C |
1: 58,578,759 (GRCm39) |
I264V |
probably benign |
Het |
Ldb3 |
A |
G |
14: 34,263,854 (GRCm39) |
M545T |
probably damaging |
Het |
Or8k30 |
A |
T |
2: 86,339,726 (GRCm39) |
I308L |
probably benign |
Het |
Piezo1 |
G |
A |
8: 123,227,002 (GRCm39) |
H420Y |
|
Het |
Primpol |
A |
T |
8: 47,058,185 (GRCm39) |
L115I |
probably damaging |
Het |
Pus10 |
G |
A |
11: 23,679,075 (GRCm39) |
|
probably null |
Het |
Rictor |
C |
G |
15: 6,825,656 (GRCm39) |
A1689G |
probably damaging |
Het |
Scn2a |
A |
G |
2: 65,595,018 (GRCm39) |
N1956D |
probably benign |
Het |
Scn4a |
T |
C |
11: 106,234,791 (GRCm39) |
D384G |
probably damaging |
Het |
Sell |
A |
G |
1: 163,893,198 (GRCm39) |
D138G |
probably damaging |
Het |
Slc4a7 |
T |
A |
14: 14,748,564 (GRCm38) |
F327L |
probably damaging |
Het |
Sox6 |
A |
G |
7: 115,085,927 (GRCm39) |
I680T |
possibly damaging |
Het |
Synj1 |
A |
G |
16: 90,735,565 (GRCm39) |
S1463P |
probably benign |
Het |
Vmn2r77 |
A |
G |
7: 86,450,065 (GRCm39) |
I104V |
probably benign |
Het |
Zfp988 |
G |
A |
4: 147,416,310 (GRCm39) |
C248Y |
probably benign |
Het |
|
Other mutations in Vmn1r31 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01326:Vmn1r31
|
APN |
6 |
58,449,784 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01386:Vmn1r31
|
APN |
6 |
58,449,587 (GRCm39) |
missense |
probably benign |
0.22 |
IGL01785:Vmn1r31
|
APN |
6 |
58,449,709 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02527:Vmn1r31
|
APN |
6 |
58,449,778 (GRCm39) |
missense |
probably benign |
0.01 |
PIT4791001:Vmn1r31
|
UTSW |
6 |
58,449,028 (GRCm39) |
missense |
probably damaging |
0.97 |
R0107:Vmn1r31
|
UTSW |
6 |
58,449,728 (GRCm39) |
missense |
probably benign |
0.05 |
R1250:Vmn1r31
|
UTSW |
6 |
58,449,643 (GRCm39) |
missense |
probably benign |
0.01 |
R1616:Vmn1r31
|
UTSW |
6 |
58,449,043 (GRCm39) |
missense |
probably damaging |
0.97 |
R1883:Vmn1r31
|
UTSW |
6 |
58,449,029 (GRCm39) |
missense |
probably damaging |
0.97 |
R1884:Vmn1r31
|
UTSW |
6 |
58,449,029 (GRCm39) |
missense |
probably damaging |
0.97 |
R2942:Vmn1r31
|
UTSW |
6 |
58,449,583 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4589:Vmn1r31
|
UTSW |
6 |
58,449,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R4672:Vmn1r31
|
UTSW |
6 |
58,449,056 (GRCm39) |
missense |
probably damaging |
0.97 |
R4676:Vmn1r31
|
UTSW |
6 |
58,448,998 (GRCm39) |
missense |
probably damaging |
0.97 |
R4702:Vmn1r31
|
UTSW |
6 |
58,448,953 (GRCm39) |
makesense |
probably null |
|
R4703:Vmn1r31
|
UTSW |
6 |
58,448,953 (GRCm39) |
makesense |
probably null |
|
R4705:Vmn1r31
|
UTSW |
6 |
58,448,953 (GRCm39) |
makesense |
probably null |
|
R6341:Vmn1r31
|
UTSW |
6 |
58,448,995 (GRCm39) |
missense |
probably benign |
0.35 |
R7238:Vmn1r31
|
UTSW |
6 |
58,449,858 (GRCm39) |
missense |
|
|
R7609:Vmn1r31
|
UTSW |
6 |
58,449,455 (GRCm39) |
missense |
probably damaging |
0.97 |
R8438:Vmn1r31
|
UTSW |
6 |
58,449,646 (GRCm39) |
missense |
|
|
R8936:Vmn1r31
|
UTSW |
6 |
58,449,083 (GRCm39) |
missense |
unknown |
|
R9103:Vmn1r31
|
UTSW |
6 |
58,449,073 (GRCm39) |
missense |
unknown |
|
Z1176:Vmn1r31
|
UTSW |
6 |
58,449,376 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- TAGAAGAACCGGTTACTACTGTAGG -3'
(R):5'- AAGCTGGACTTGGAGCCTTAG -3'
Sequencing Primer
(F):5'- CCGGTTACTACTGTAGGACAAATTG -3'
(R):5'- GACTTGGAGCCTTAGCCAATATG -3'
|
Posted On |
2018-06-06 |