Incidental Mutation 'R6660:Vmn1r189'
| ID |
526815 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r189
|
| Ensembl Gene |
ENSMUSG00000099611 |
| Gene Name |
vomeronasal 1 receptor 189 |
| Synonyms |
V1rh2 |
| MMRRC Submission |
044780-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.371)
|
| Stock # |
R6660 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
22285897-22286835 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 22286066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 257
(L257H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154722
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000186062]
[ENSMUST00000227357]
[ENSMUST00000228428]
|
| AlphaFold |
Q8K3N3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000186062
AA Change: L257H
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140924
Gene: ENSMUSG00000099611
AA Change: L257H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
30 |
283 |
1e-7 |
PFAM |
|
Pfam:V1R
|
33 |
297 |
7.9e-35 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227357
AA Change: L257H
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228428
AA Change: L257H
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actg1 |
A |
T |
11: 120,237,581 (GRCm39) |
I289N |
probably damaging |
Het |
| Atg5 |
A |
G |
10: 44,170,651 (GRCm39) |
N99S |
probably benign |
Het |
| Ccdc88a |
A |
G |
11: 29,432,663 (GRCm39) |
Q1223R |
probably benign |
Het |
| Cdc42 |
T |
C |
4: 137,056,145 (GRCm39) |
D122G |
probably benign |
Het |
| Cpxm1 |
A |
G |
2: 130,238,069 (GRCm39) |
S127P |
probably damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,140,634 (GRCm39) |
C730R |
possibly damaging |
Het |
| Ddx60 |
T |
A |
8: 62,409,273 (GRCm39) |
H436Q |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,991,014 (GRCm39) |
Y1236C |
probably benign |
Het |
| Ep400 |
G |
A |
5: 110,867,313 (GRCm39) |
R1000* |
probably null |
Het |
| Ergic3 |
A |
G |
2: 155,859,754 (GRCm39) |
I227V |
probably damaging |
Het |
| Fam227b |
G |
T |
2: 125,986,227 (GRCm39) |
P13Q |
probably damaging |
Het |
| Gal |
A |
G |
19: 3,460,108 (GRCm39) |
L121P |
possibly damaging |
Het |
| Garin2 |
T |
C |
12: 78,762,131 (GRCm39) |
V265A |
possibly damaging |
Het |
| Ifi207 |
T |
C |
1: 173,556,972 (GRCm39) |
T589A |
probably benign |
Het |
| Intu |
T |
C |
3: 40,586,100 (GRCm39) |
V27A |
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,111,495 (GRCm39) |
I2249L |
probably benign |
Het |
| Pdc |
T |
C |
1: 150,209,086 (GRCm39) |
Y190H |
probably damaging |
Het |
| Pmm2 |
T |
C |
16: 8,473,506 (GRCm39) |
L240P |
probably damaging |
Het |
| Polr1a |
T |
C |
6: 71,944,358 (GRCm39) |
V1275A |
probably damaging |
Het |
| Rgsl1 |
T |
A |
1: 153,701,512 (GRCm39) |
N314I |
possibly damaging |
Het |
| Rpe65 |
A |
T |
3: 159,320,345 (GRCm39) |
N301Y |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,737,770 (GRCm39) |
|
probably null |
Het |
| Sh3bp4 |
A |
G |
1: 89,080,888 (GRCm39) |
S902G |
possibly damaging |
Het |
| Slc44a4 |
A |
T |
17: 35,149,201 (GRCm39) |
R705W |
probably damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,080,747 (GRCm39) |
I325V |
possibly damaging |
Het |
| Spns1 |
A |
G |
7: 125,974,237 (GRCm39) |
|
probably null |
Het |
| Syt6 |
T |
G |
3: 103,532,960 (GRCm39) |
L363R |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,544,759 (GRCm39) |
V32781A |
probably benign |
Het |
| Ube2l6 |
A |
G |
2: 84,636,852 (GRCm39) |
T99A |
probably damaging |
Het |
| Unc13b |
A |
T |
4: 43,177,412 (GRCm39) |
|
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Zfpm2 |
T |
C |
15: 40,518,981 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Vmn1r189 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03084:Vmn1r189
|
APN |
13 |
22,286,008 (GRCm39) |
nonsense |
probably null |
|
|
R0437:Vmn1r189
|
UTSW |
13 |
22,286,231 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1199:Vmn1r189
|
UTSW |
13 |
22,286,828 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1795:Vmn1r189
|
UTSW |
13 |
22,286,324 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2251:Vmn1r189
|
UTSW |
13 |
22,286,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3751:Vmn1r189
|
UTSW |
13 |
22,286,382 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3824:Vmn1r189
|
UTSW |
13 |
22,286,382 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3825:Vmn1r189
|
UTSW |
13 |
22,286,382 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3856:Vmn1r189
|
UTSW |
13 |
22,286,439 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4688:Vmn1r189
|
UTSW |
13 |
22,286,289 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5665:Vmn1r189
|
UTSW |
13 |
22,286,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5778:Vmn1r189
|
UTSW |
13 |
22,286,552 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6149:Vmn1r189
|
UTSW |
13 |
22,286,054 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6431:Vmn1r189
|
UTSW |
13 |
22,286,525 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6974:Vmn1r189
|
UTSW |
13 |
22,286,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7051:Vmn1r189
|
UTSW |
13 |
22,286,285 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7269:Vmn1r189
|
UTSW |
13 |
22,286,737 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7330:Vmn1r189
|
UTSW |
13 |
22,286,711 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7611:Vmn1r189
|
UTSW |
13 |
22,286,322 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7894:Vmn1r189
|
UTSW |
13 |
22,285,906 (GRCm39) |
nonsense |
probably null |
|
|
R8214:Vmn1r189
|
UTSW |
13 |
22,286,301 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8925:Vmn1r189
|
UTSW |
13 |
22,286,811 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8927:Vmn1r189
|
UTSW |
13 |
22,286,811 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9329:Vmn1r189
|
UTSW |
13 |
22,286,430 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9562:Vmn1r189
|
UTSW |
13 |
22,286,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9565:Vmn1r189
|
UTSW |
13 |
22,286,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Vmn1r189
|
UTSW |
13 |
22,286,053 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACATGCTTAAACTGCTTTGTG -3'
(R):5'- AGTGGCTACATGGTATTTCTTCTCC -3'
Sequencing Primer
(F):5'- TGAAGAACTGAGATTTCTTTGACAG -3'
(R):5'- GCTACATGGTATTTCTTCTCCACAAG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation