Incidental Mutation 'R5298:Vmn1r193'
| ID |
405547 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r193
|
| Ensembl Gene |
ENSMUSG00000046932 |
| Gene Name |
vomeronasal 1 receptor 193 |
| Synonyms |
V1ri9 |
| MMRRC Submission |
042881-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R5298 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
22403031-22403990 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 22403725 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 89
(F89Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154019
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057516]
[ENSMUST00000227457]
[ENSMUST00000227562]
[ENSMUST00000228303]
|
| AlphaFold |
Q8R258 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057516
AA Change: F89Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058480
Gene: ENSMUSG00000046932
AA Change: F89Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
23 |
317 |
4.4e-8 |
PFAM |
|
Pfam:V1R
|
52 |
315 |
5.1e-36 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227457
AA Change: F89Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227562
AA Change: F89Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228303
AA Change: F89Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr4 |
A |
G |
9: 103,976,086 (GRCm39) |
V287A |
possibly damaging |
Het |
| Adat2 |
A |
G |
10: 13,432,650 (GRCm39) |
N51D |
probably benign |
Het |
| Alms1-ps1 |
T |
C |
6: 85,729,100 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc97 |
A |
G |
7: 25,415,432 (GRCm39) |
V12A |
probably damaging |
Het |
| Cdcp2 |
T |
C |
4: 106,964,182 (GRCm39) |
V344A |
probably benign |
Het |
| Clasp1 |
A |
G |
1: 118,475,650 (GRCm39) |
D929G |
possibly damaging |
Het |
| Clip4 |
A |
G |
17: 72,141,220 (GRCm39) |
N525D |
probably damaging |
Het |
| Csde1 |
T |
A |
3: 102,954,525 (GRCm39) |
|
probably null |
Het |
| D330020A13Rik |
T |
C |
6: 120,271,777 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Ehmt2 |
C |
T |
17: 35,118,067 (GRCm39) |
R40* |
probably null |
Het |
| Fuca1 |
C |
A |
4: 135,664,237 (GRCm39) |
Y374* |
probably null |
Het |
| Gle1 |
C |
G |
2: 29,838,955 (GRCm39) |
P457A |
probably benign |
Het |
| Hadhb |
T |
C |
5: 30,382,009 (GRCm39) |
|
probably null |
Het |
| Klhl18 |
G |
C |
9: 110,265,195 (GRCm39) |
N335K |
possibly damaging |
Het |
| Lef1 |
A |
T |
3: 130,988,316 (GRCm39) |
R294S |
possibly damaging |
Het |
| Lrriq4 |
G |
T |
3: 30,699,481 (GRCm39) |
M1I |
probably null |
Het |
| Magi2 |
T |
C |
5: 20,774,160 (GRCm39) |
S884P |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,846,511 (GRCm39) |
I1353T |
probably benign |
Het |
| Or4c127 |
T |
A |
2: 89,832,804 (GRCm39) |
L18Q |
possibly damaging |
Het |
| Or5p81 |
A |
G |
7: 108,267,279 (GRCm39) |
I219V |
probably benign |
Het |
| Parg |
C |
A |
14: 31,924,210 (GRCm39) |
A3E |
probably damaging |
Het |
| Per3 |
A |
T |
4: 151,113,666 (GRCm39) |
D297E |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,367,442 (GRCm39) |
Y780F |
probably benign |
Het |
| Plcg2 |
A |
G |
8: 118,331,988 (GRCm39) |
Y858C |
probably benign |
Het |
| Prkca |
A |
T |
11: 107,903,510 (GRCm39) |
N287K |
probably damaging |
Het |
| Qsox2 |
A |
C |
2: 26,104,074 (GRCm39) |
S484A |
probably damaging |
Het |
| Reep4 |
G |
A |
14: 70,785,637 (GRCm39) |
G225D |
possibly damaging |
Het |
| Scn4a |
T |
C |
11: 106,230,212 (GRCm39) |
E532G |
probably damaging |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
| Slc23a1 |
A |
G |
18: 35,755,563 (GRCm39) |
|
probably null |
Het |
| Sowaha |
C |
T |
11: 53,370,355 (GRCm39) |
R127Q |
probably benign |
Het |
| Spag9 |
T |
C |
11: 93,990,961 (GRCm39) |
W626R |
probably damaging |
Het |
| Tasor2 |
T |
C |
13: 3,645,613 (GRCm39) |
|
probably null |
Het |
| Trim45 |
A |
G |
3: 100,832,787 (GRCm39) |
D340G |
probably damaging |
Het |
| Zfp507 |
T |
C |
7: 35,475,421 (GRCm39) |
N931D |
probably damaging |
Het |
|
| Other mutations in Vmn1r193 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01642:Vmn1r193
|
APN |
13 |
22,403,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01862:Vmn1r193
|
APN |
13 |
22,403,984 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01939:Vmn1r193
|
APN |
13 |
22,403,893 (GRCm39) |
nonsense |
probably null |
|
|
IGL03394:Vmn1r193
|
APN |
13 |
22,403,939 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0158:Vmn1r193
|
UTSW |
13 |
22,403,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1830:Vmn1r193
|
UTSW |
13 |
22,403,561 (GRCm39) |
missense |
probably benign |
|
|
R2035:Vmn1r193
|
UTSW |
13 |
22,403,732 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4651:Vmn1r193
|
UTSW |
13 |
22,403,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4652:Vmn1r193
|
UTSW |
13 |
22,403,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5865:Vmn1r193
|
UTSW |
13 |
22,403,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6208:Vmn1r193
|
UTSW |
13 |
22,403,138 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6958:Vmn1r193
|
UTSW |
13 |
22,404,144 (GRCm39) |
start gained |
probably benign |
|
|
R8095:Vmn1r193
|
UTSW |
13 |
22,403,231 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8128:Vmn1r193
|
UTSW |
13 |
22,403,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8211:Vmn1r193
|
UTSW |
13 |
22,403,286 (GRCm39) |
nonsense |
probably null |
|
|
R8308:Vmn1r193
|
UTSW |
13 |
22,403,146 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8889:Vmn1r193
|
UTSW |
13 |
22,403,839 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8949:Vmn1r193
|
UTSW |
13 |
22,403,920 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9138:Vmn1r193
|
UTSW |
13 |
22,403,844 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9364:Vmn1r193
|
UTSW |
13 |
22,403,989 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
R9554:Vmn1r193
|
UTSW |
13 |
22,403,989 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
V1662:Vmn1r193
|
UTSW |
13 |
22,403,245 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1177:Vmn1r193
|
UTSW |
13 |
22,403,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAACATGCCATGTGGTCTGTG -3'
(R):5'- AGTTCTGAGCATGAAGATGATTTGG -3'
Sequencing Primer
(F):5'- TGGTTTGAGCTTTCTCCACAG -3'
(R):5'- TCATCGAGGGGACAATTTTCC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation