Incidental Mutation 'R5463:Vmn1r181'
| ID |
433094 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r181
|
| Ensembl Gene |
ENSMUSG00000097425 |
| Gene Name |
vomeronasal 1 receptor 181 |
| Synonyms |
V1rd20 |
| MMRRC Submission |
043025-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R5463 (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 G
at 23683787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 84
(N84S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154403
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000181796]
[ENSMUST00000226843]
[ENSMUST00000226978]
[ENSMUST00000227637]
[ENSMUST00000228399]
[ENSMUST00000228842]
|
| AlphaFold |
Q0P547 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181796
AA Change: N84S
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000137685
Gene: ENSMUSG00000097425
AA Change: N84S
| 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 benign
Transcript: ENSMUST00000226843
AA Change: N84S
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226978
AA Change: N84S
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227637
AA Change: N84S
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228399
AA Change: N84S
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228531
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228607
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228842
AA Change: N84S
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930009A15Rik |
A |
C |
10: 115,406,104 (GRCm39) |
|
probably benign |
Het |
| Arhgap29 |
T |
A |
3: 121,782,200 (GRCm39) |
S71T |
possibly damaging |
Het |
| BC048507 |
T |
C |
13: 68,011,817 (GRCm39) |
Y65H |
probably damaging |
Het |
| C3 |
T |
C |
17: 57,518,720 (GRCm39) |
E1221G |
probably benign |
Het |
| Calb1 |
G |
T |
4: 15,885,656 (GRCm39) |
V76L |
probably benign |
Het |
| Crybg1 |
T |
A |
10: 43,879,689 (GRCm39) |
K500* |
probably null |
Het |
| Csmd1 |
G |
A |
8: 16,034,860 (GRCm39) |
T2437I |
probably benign |
Het |
| Cyp27b1 |
G |
A |
10: 126,887,966 (GRCm39) |
V493I |
possibly damaging |
Het |
| Cyp3a44 |
T |
A |
5: 145,740,554 (GRCm39) |
T29S |
probably benign |
Het |
| Dclk3 |
T |
C |
9: 111,298,328 (GRCm39) |
V624A |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,069,140 (GRCm39) |
I2464V |
probably benign |
Het |
| Dock6 |
A |
T |
9: 21,721,254 (GRCm39) |
|
probably null |
Het |
| Erap1 |
C |
T |
13: 74,794,533 (GRCm39) |
T64I |
probably damaging |
Het |
| Erbb3 |
A |
T |
10: 128,405,948 (GRCm39) |
Y1156* |
probably null |
Het |
| Fam168a |
G |
A |
7: 100,484,602 (GRCm39) |
A231T |
probably benign |
Het |
| Farp1 |
C |
T |
14: 121,472,489 (GRCm39) |
P208L |
probably damaging |
Het |
| Fbxo30 |
T |
C |
10: 11,166,813 (GRCm39) |
Y512H |
probably damaging |
Het |
| Gcnt2 |
A |
T |
13: 41,071,650 (GRCm39) |
I98F |
possibly damaging |
Het |
| Got1 |
G |
A |
19: 43,493,036 (GRCm39) |
T295I |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,844,010 (GRCm39) |
E3538G |
probably damaging |
Het |
| Kcnmb4 |
A |
T |
10: 116,309,410 (GRCm39) |
V6E |
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Letmd1 |
C |
T |
15: 100,367,009 (GRCm39) |
A2V |
probably damaging |
Het |
| Lynx1 |
G |
T |
15: 74,623,462 (GRCm39) |
Y28* |
probably null |
Het |
| Mast1 |
T |
C |
8: 85,652,136 (GRCm39) |
E304G |
probably damaging |
Het |
| Nipa1 |
G |
A |
7: 55,629,205 (GRCm39) |
Q303* |
probably null |
Het |
| Nomo1 |
G |
A |
7: 45,712,426 (GRCm39) |
R657H |
possibly damaging |
Het |
| Or51b4 |
C |
T |
7: 103,530,541 (GRCm39) |
R303H |
probably benign |
Het |
| Pcdha7 |
T |
A |
18: 37,108,628 (GRCm39) |
L551Q |
probably damaging |
Het |
| Pik3r4 |
T |
C |
9: 105,525,930 (GRCm39) |
Y267H |
probably damaging |
Het |
| Pnliprp1 |
A |
G |
19: 58,723,168 (GRCm39) |
D223G |
probably damaging |
Het |
| Prph |
G |
A |
15: 98,953,281 (GRCm39) |
G65D |
probably benign |
Het |
| Pskh1 |
T |
C |
8: 106,639,464 (GRCm39) |
L48P |
probably benign |
Het |
| Ptdss1 |
C |
A |
13: 67,093,365 (GRCm39) |
N68K |
probably damaging |
Het |
| Rexo5 |
G |
A |
7: 119,433,526 (GRCm39) |
G495R |
probably damaging |
Het |
| Ryr1 |
C |
A |
7: 28,723,448 (GRCm39) |
A4204S |
possibly damaging |
Het |
| Serpinb9 |
G |
A |
13: 33,199,659 (GRCm39) |
S318N |
probably damaging |
Het |
| Slc22a8 |
G |
A |
19: 8,586,638 (GRCm39) |
R383H |
probably benign |
Het |
| Trim26 |
A |
G |
17: 37,162,016 (GRCm39) |
H145R |
probably damaging |
Het |
| Trps1 |
A |
T |
15: 50,695,286 (GRCm39) |
Y286* |
probably null |
Het |
| Wdfy4 |
G |
T |
14: 32,873,689 (GRCm39) |
Q207K |
probably benign |
Het |
| Whrn |
G |
A |
4: 63,351,053 (GRCm39) |
T427I |
probably benign |
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 |
|
R5672:Vmn1r181
|
UTSW |
7 |
23,683,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AAAGCCCTCTCCATGTCTGC -3'
(R):5'- TGTTATCTGTGGACCAGTGACC -3'
Sequencing Primer
(F):5'- ATGTCTGCTCATGATAAATCCCTG -3'
(R):5'- ATCTGTGGACCAGTGACCTTAATTG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation