Incidental Mutation 'R5672:Vmn1r181'
ID |
442675 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn1r181
|
Ensembl Gene |
ENSMUSG00000097425 |
Gene Name |
vomeronasal 1 receptor 181 |
Synonyms |
V1rd20 |
MMRRC Submission |
043174-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R5672 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
23683386-23684473 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 23683741 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Proline
at position 69
(T69P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154403
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000181796]
[ENSMUST00000226843]
[ENSMUST00000226978]
[ENSMUST00000227637]
[ENSMUST00000228399]
[ENSMUST00000228842]
|
AlphaFold |
Q0P547 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000181796
AA Change: T69P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000137685 Gene: ENSMUSG00000097425 AA Change: T69P
Domain | Start | End | E-Value | Type |
Pfam:TAS2R
|
8 |
296 |
3.9e-9 |
PFAM |
Pfam:V1R
|
41 |
295 |
2.7e-13 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000226843
AA Change: T69P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000226978
AA Change: T69P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227637
AA Change: T69P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228399
AA Change: T69P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228531
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228607
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228842
AA Change: T69P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4gnt |
A |
G |
9: 99,502,383 (GRCm39) |
N181S |
possibly damaging |
Het |
Abcf3 |
A |
T |
16: 20,368,002 (GRCm39) |
Q74L |
probably benign |
Het |
Ankrd13c |
T |
C |
3: 157,666,664 (GRCm39) |
|
probably null |
Het |
Bub1 |
A |
G |
2: 127,646,800 (GRCm39) |
F827L |
possibly damaging |
Het |
Cfap68 |
T |
C |
9: 50,675,227 (GRCm39) |
T67A |
probably benign |
Het |
Cyp2c55 |
A |
G |
19: 39,023,990 (GRCm39) |
I355V |
probably benign |
Het |
Dido1 |
A |
G |
2: 180,313,696 (GRCm39) |
S319P |
probably damaging |
Het |
Efna5 |
A |
T |
17: 63,188,025 (GRCm39) |
V34D |
probably damaging |
Het |
Fam131a |
G |
T |
16: 20,518,389 (GRCm39) |
E88D |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,817,838 (GRCm39) |
R4524* |
probably null |
Het |
Gm6899 |
C |
T |
11: 26,543,484 (GRCm39) |
|
probably benign |
Het |
Iqcg |
C |
T |
16: 32,839,878 (GRCm39) |
R356Q |
probably damaging |
Het |
Itgae |
T |
A |
11: 73,036,377 (GRCm39) |
I1105N |
possibly damaging |
Het |
Klb |
T |
C |
5: 65,537,292 (GRCm39) |
I874T |
possibly damaging |
Het |
Klc3 |
T |
C |
7: 19,130,256 (GRCm39) |
Y307C |
probably damaging |
Het |
Lrp1b |
T |
A |
2: 41,231,771 (GRCm39) |
H378L |
probably benign |
Het |
Mxd4 |
G |
A |
5: 34,335,044 (GRCm39) |
R114C |
probably damaging |
Het |
Nrdc |
A |
T |
4: 108,895,242 (GRCm39) |
R241* |
probably null |
Het |
Ofcc1 |
G |
A |
13: 40,433,905 (GRCm39) |
H67Y |
probably damaging |
Het |
Or10ak9 |
A |
G |
4: 118,726,379 (GRCm39) |
T134A |
possibly damaging |
Het |
Or5p5 |
A |
G |
7: 107,413,844 (GRCm39) |
T18A |
probably damaging |
Het |
Or7e165 |
T |
A |
9: 19,694,507 (GRCm39) |
I26N |
possibly damaging |
Het |
Pard3b |
G |
T |
1: 62,049,625 (GRCm39) |
A128S |
probably benign |
Het |
Plat |
T |
C |
8: 23,263,664 (GRCm39) |
Y188H |
probably benign |
Het |
Pop1 |
A |
G |
15: 34,530,325 (GRCm39) |
K908E |
possibly damaging |
Het |
Pten |
A |
G |
19: 32,735,866 (GRCm39) |
I8V |
probably benign |
Het |
Pwwp2a |
C |
T |
11: 43,596,968 (GRCm39) |
A436V |
probably damaging |
Het |
Rnf145 |
G |
A |
11: 44,422,120 (GRCm39) |
V68M |
possibly damaging |
Het |
Sdk1 |
T |
C |
5: 142,173,900 (GRCm39) |
C2023R |
possibly damaging |
Het |
Serpina1d |
A |
C |
12: 103,730,101 (GRCm39) |
D360E |
possibly damaging |
Het |
Serpinb9b |
A |
G |
13: 33,223,582 (GRCm39) |
D258G |
probably benign |
Het |
Smgc |
G |
A |
15: 91,726,108 (GRCm39) |
S18N |
possibly damaging |
Het |
Snx27 |
A |
T |
3: 94,410,157 (GRCm39) |
|
probably null |
Het |
Spem1 |
T |
G |
11: 69,712,263 (GRCm39) |
K134Q |
probably damaging |
Het |
Srgap3 |
T |
A |
6: 112,752,522 (GRCm39) |
M321L |
probably benign |
Het |
Tanc1 |
T |
C |
2: 59,602,697 (GRCm39) |
C163R |
possibly damaging |
Het |
Ube2ql1 |
A |
T |
13: 69,887,446 (GRCm39) |
L5H |
unknown |
Het |
Ubn2 |
T |
C |
6: 38,438,462 (GRCm39) |
I225T |
probably damaging |
Het |
Vmn2r110 |
A |
G |
17: 20,816,494 (GRCm39) |
F10L |
probably benign |
Het |
Yeats2 |
T |
C |
16: 19,980,779 (GRCm39) |
M236T |
probably damaging |
Het |
|
Other mutations in Vmn1r181 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01443:Vmn1r181
|
APN |
7 |
23,684,006 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02055:Vmn1r181
|
APN |
7 |
23,683,978 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02444:Vmn1r181
|
APN |
7 |
23,683,948 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03012:Vmn1r181
|
APN |
7 |
23,684,027 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03026:Vmn1r181
|
APN |
7 |
23,684,000 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0255:Vmn1r181
|
UTSW |
7 |
23,683,759 (GRCm39) |
missense |
probably benign |
0.02 |
R1481:Vmn1r181
|
UTSW |
7 |
23,684,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R2847:Vmn1r181
|
UTSW |
7 |
23,683,943 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2848:Vmn1r181
|
UTSW |
7 |
23,683,943 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2849:Vmn1r181
|
UTSW |
7 |
23,683,943 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3441:Vmn1r181
|
UTSW |
7 |
23,684,308 (GRCm39) |
missense |
probably benign |
0.05 |
R3757:Vmn1r181
|
UTSW |
7 |
23,683,909 (GRCm39) |
missense |
possibly damaging |
0.90 |
R3945:Vmn1r181
|
UTSW |
7 |
23,683,577 (GRCm39) |
missense |
probably damaging |
0.98 |
R3983:Vmn1r181
|
UTSW |
7 |
23,684,234 (GRCm39) |
missense |
probably benign |
0.23 |
R4780:Vmn1r181
|
UTSW |
7 |
23,684,008 (GRCm39) |
missense |
possibly damaging |
0.64 |
R4999:Vmn1r181
|
UTSW |
7 |
23,683,790 (GRCm39) |
missense |
probably damaging |
0.99 |
R5463:Vmn1r181
|
UTSW |
7 |
23,683,787 (GRCm39) |
missense |
probably benign |
0.02 |
R6229:Vmn1r181
|
UTSW |
7 |
23,683,580 (GRCm39) |
missense |
probably damaging |
1.00 |
R6315:Vmn1r181
|
UTSW |
7 |
23,684,183 (GRCm39) |
missense |
probably benign |
0.23 |
R6316:Vmn1r181
|
UTSW |
7 |
23,684,183 (GRCm39) |
missense |
probably benign |
0.23 |
R6317:Vmn1r181
|
UTSW |
7 |
23,684,183 (GRCm39) |
missense |
probably benign |
0.23 |
R6324:Vmn1r181
|
UTSW |
7 |
23,684,183 (GRCm39) |
missense |
probably benign |
0.23 |
R6326:Vmn1r181
|
UTSW |
7 |
23,684,183 (GRCm39) |
missense |
probably benign |
0.23 |
R6988:Vmn1r181
|
UTSW |
7 |
23,684,272 (GRCm39) |
missense |
probably damaging |
1.00 |
R7446:Vmn1r181
|
UTSW |
7 |
23,684,356 (GRCm39) |
missense |
probably benign |
0.01 |
R7972:Vmn1r181
|
UTSW |
7 |
23,683,871 (GRCm39) |
missense |
probably benign |
0.30 |
R8465:Vmn1r181
|
UTSW |
7 |
23,684,309 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9096:Vmn1r181
|
UTSW |
7 |
23,684,444 (GRCm39) |
missense |
probably benign |
0.00 |
R9097:Vmn1r181
|
UTSW |
7 |
23,684,444 (GRCm39) |
missense |
probably benign |
0.00 |
X0067:Vmn1r181
|
UTSW |
7 |
23,684,326 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTCTGCTCATGATAAATCCCTG -3'
(R):5'- CCAAATTCGGGACACTTGTTC -3'
Sequencing Primer
(F):5'- TCTGCTCATGATAAATCCCTGAAAAC -3'
(R):5'- CGGGACACTTGTTCTGAGTATAAG -3'
|
Posted On |
2016-11-09 |