Incidental Mutation 'R5321:Vmn1r5'
| ID |
406105 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r5
|
| Ensembl Gene |
ENSMUSG00000090346 |
| Gene Name |
vomeronasal 1 receptor 5 |
| Synonyms |
V1rc19 |
| MMRRC Submission |
042904-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R5321 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
56947320-56963335 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56962592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 89
(L89P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154081
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164307]
[ENSMUST00000226130]
[ENSMUST00000228276]
|
| AlphaFold |
B2RQT2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164307
AA Change: L89P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131092
Gene: ENSMUSG00000090346
AA Change: L89P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
28 |
293 |
9.7e-53 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226130
AA Change: L89P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228276
AA Change: L89P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
G |
11: 110,218,651 (GRCm39) |
F72L |
probably benign |
Het |
| Btrc |
G |
A |
19: 45,496,197 (GRCm39) |
V211M |
probably damaging |
Het |
| Col6a5 |
A |
T |
9: 105,805,664 (GRCm39) |
Y1081N |
unknown |
Het |
| Cryzl1 |
T |
C |
16: 91,504,118 (GRCm39) |
Y109C |
probably benign |
Het |
| Dlec1 |
T |
A |
9: 118,941,669 (GRCm39) |
S352T |
probably benign |
Het |
| Dzip3 |
T |
G |
16: 48,778,038 (GRCm39) |
T349P |
possibly damaging |
Het |
| Endou |
A |
G |
15: 97,618,913 (GRCm39) |
V37A |
probably damaging |
Het |
| Exosc1 |
A |
T |
19: 41,912,499 (GRCm39) |
C129* |
probably null |
Het |
| Flywch1 |
C |
G |
17: 23,975,625 (GRCm39) |
R539P |
probably damaging |
Het |
| Gm14410 |
G |
A |
2: 176,885,298 (GRCm39) |
T322I |
probably damaging |
Het |
| Lcor |
G |
T |
19: 41,573,643 (GRCm39) |
W799C |
probably damaging |
Het |
| Lpin2 |
G |
A |
17: 71,553,853 (GRCm39) |
V857M |
probably damaging |
Het |
| Or52ae9 |
T |
C |
7: 103,389,862 (GRCm39) |
N195S |
probably damaging |
Het |
| Patl1 |
A |
G |
19: 11,898,785 (GRCm39) |
Q160R |
probably damaging |
Het |
| Phtf1 |
C |
T |
3: 103,910,827 (GRCm39) |
T606I |
probably benign |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Scrt1 |
T |
C |
15: 76,403,370 (GRCm39) |
S207G |
unknown |
Het |
| Slc15a5 |
G |
T |
6: 137,964,436 (GRCm39) |
N496K |
probably benign |
Het |
| Slc34a1 |
A |
T |
13: 23,996,614 (GRCm39) |
I40F |
possibly damaging |
Het |
| Tdrd12 |
A |
C |
7: 35,177,519 (GRCm39) |
V945G |
probably damaging |
Het |
| Tdrkh |
C |
A |
3: 94,332,965 (GRCm39) |
L169I |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,865 (GRCm39) |
C35R |
probably damaging |
Het |
| Tpte |
A |
T |
8: 22,787,219 (GRCm39) |
R33* |
probably null |
Het |
| Trpv2 |
T |
A |
11: 62,475,397 (GRCm39) |
L270H |
probably damaging |
Het |
| Utp18 |
A |
G |
11: 93,757,260 (GRCm39) |
L468P |
probably damaging |
Het |
| Uxs1 |
A |
G |
1: 43,844,805 (GRCm39) |
I51T |
probably damaging |
Het |
| Vmn1r20 |
C |
T |
6: 57,409,427 (GRCm39) |
S251L |
probably benign |
Het |
| Vmn1r24 |
A |
T |
6: 57,933,182 (GRCm39) |
L112* |
probably null |
Het |
| Vmn2r10 |
G |
T |
5: 109,143,505 (GRCm39) |
A815E |
probably damaging |
Het |
| Zfp119a |
A |
T |
17: 56,172,595 (GRCm39) |
L416H |
probably damaging |
Het |
|
| Other mutations in Vmn1r5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01674:Vmn1r5
|
APN |
6 |
56,962,911 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02027:Vmn1r5
|
APN |
6 |
56,962,640 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03133:Vmn1r5
|
APN |
6 |
56,962,600 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03412:Vmn1r5
|
APN |
6 |
56,962,918 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0316:Vmn1r5
|
UTSW |
6 |
56,962,784 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0378:Vmn1r5
|
UTSW |
6 |
56,962,570 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0946:Vmn1r5
|
UTSW |
6 |
56,963,150 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1511:Vmn1r5
|
UTSW |
6 |
56,962,771 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1553:Vmn1r5
|
UTSW |
6 |
56,962,483 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1823:Vmn1r5
|
UTSW |
6 |
56,962,580 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3980:Vmn1r5
|
UTSW |
6 |
56,962,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4473:Vmn1r5
|
UTSW |
6 |
56,962,633 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4742:Vmn1r5
|
UTSW |
6 |
56,963,236 (GRCm39) |
nonsense |
probably null |
|
|
R5364:Vmn1r5
|
UTSW |
6 |
56,962,583 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6102:Vmn1r5
|
UTSW |
6 |
56,963,099 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6581:Vmn1r5
|
UTSW |
6 |
56,962,366 (GRCm39) |
missense |
probably benign |
|
|
R6885:Vmn1r5
|
UTSW |
6 |
56,963,042 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7297:Vmn1r5
|
UTSW |
6 |
56,963,204 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8063:Vmn1r5
|
UTSW |
6 |
56,962,583 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8766:Vmn1r5
|
UTSW |
6 |
56,963,100 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8968:Vmn1r5
|
UTSW |
6 |
56,963,182 (GRCm39) |
nonsense |
probably null |
|
|
R9440:Vmn1r5
|
UTSW |
6 |
56,962,415 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9460:Vmn1r5
|
UTSW |
6 |
56,962,829 (GRCm39) |
missense |
|
|
|
Z1176:Vmn1r5
|
UTSW |
6 |
56,962,933 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGGTCACAGACGTAAGCCC -3'
(R):5'- AGTGAGCAGTATTTAGTAGCCTTC -3'
Sequencing Primer
(F):5'- CACAGACCTGATCTCCTGTCAACTG -3'
(R):5'- GGTCTCACTCACATTGGTATAAGCAC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation