Incidental Mutation 'R5824:Vmn1r199'
| ID |
450078 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r199
|
| Ensembl Gene |
ENSMUSG00000069292 |
| Gene Name |
vomeronasal 1 receptor 199 |
| Synonyms |
V1rh4 |
| MMRRC Submission |
043216-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R5824 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
22566708-22567811 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 22567748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 304
(K304N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153996
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091732]
[ENSMUST00000227685]
[ENSMUST00000227689]
[ENSMUST00000227846]
|
| AlphaFold |
Q8R280 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091732
AA Change: K347N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000089326
Gene: ENSMUSG00000069292
AA Change: K347N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
37 |
N/A |
INTRINSIC |
|
Pfam:TAS2R
|
43 |
338 |
3.3e-7 |
PFAM |
|
Pfam:V1R
|
75 |
340 |
1.6e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120663
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227685
AA Change: K347N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227689
AA Change: K304N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227846
AA Change: K304N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtpbp1 |
A |
T |
13: 59,613,913 (GRCm39) |
H66Q |
probably damaging |
Het |
| Ap1g1 |
T |
A |
8: 110,565,544 (GRCm39) |
|
probably null |
Het |
| Ap4b1 |
A |
T |
3: 103,720,701 (GRCm39) |
I124F |
probably benign |
Het |
| Arhgap10 |
A |
T |
8: 78,085,181 (GRCm39) |
Y462* |
probably null |
Het |
| Btnl10 |
G |
T |
11: 58,814,266 (GRCm39) |
M315I |
probably benign |
Het |
| Cep295 |
A |
G |
9: 15,236,952 (GRCm39) |
V1994A |
possibly damaging |
Het |
| Cherp |
G |
A |
8: 73,216,102 (GRCm39) |
|
probably benign |
Het |
| Ckap5 |
G |
A |
2: 91,389,481 (GRCm39) |
A318T |
probably benign |
Het |
| Cma1 |
T |
C |
14: 56,179,182 (GRCm39) |
K238E |
possibly damaging |
Het |
| Cspg4b |
T |
A |
13: 113,505,154 (GRCm39) |
H2094Q |
probably damaging |
Het |
| Ctif |
T |
C |
18: 75,743,749 (GRCm39) |
D141G |
possibly damaging |
Het |
| Ctnna1 |
T |
C |
18: 35,312,939 (GRCm39) |
S264P |
probably benign |
Het |
| Dnah12 |
G |
T |
14: 26,492,475 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
A |
G |
15: 28,313,967 (GRCm39) |
T1928A |
probably benign |
Het |
| Etfdh |
G |
A |
3: 79,517,252 (GRCm39) |
P379L |
probably damaging |
Het |
| Gfra3 |
T |
C |
18: 34,844,264 (GRCm39) |
N92S |
probably damaging |
Het |
| Gpr161 |
C |
A |
1: 165,138,560 (GRCm39) |
T382K |
possibly damaging |
Het |
| Gspt2 |
T |
C |
X: 93,680,071 (GRCm39) |
V70A |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,868,774 (GRCm39) |
V10A |
probably benign |
Het |
| Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
| Kpna1 |
A |
G |
16: 35,840,575 (GRCm39) |
D205G |
possibly damaging |
Het |
| Man2a2 |
T |
G |
7: 80,002,780 (GRCm39) |
D1067A |
probably benign |
Het |
| Map3k4 |
G |
A |
17: 12,448,526 (GRCm39) |
H1551Y |
probably damaging |
Het |
| Moxd1 |
A |
T |
10: 24,162,995 (GRCm39) |
I486F |
probably damaging |
Het |
| Notch3 |
G |
T |
17: 32,372,835 (GRCm39) |
R579S |
possibly damaging |
Het |
| Or2r3 |
C |
A |
6: 42,448,906 (GRCm39) |
V69L |
probably benign |
Het |
| Or6c65 |
T |
C |
10: 129,604,250 (GRCm39) |
V295A |
probably damaging |
Het |
| Or8b4 |
A |
G |
9: 37,830,861 (GRCm39) |
T308A |
probably benign |
Het |
| Pira13 |
T |
C |
7: 3,827,753 (GRCm39) |
T135A |
probably damaging |
Het |
| Recql4 |
C |
T |
15: 76,592,785 (GRCm39) |
C302Y |
probably damaging |
Het |
| Reg3b |
G |
A |
6: 78,349,104 (GRCm39) |
V77I |
possibly damaging |
Het |
| Terb1 |
T |
C |
8: 105,212,079 (GRCm39) |
T301A |
probably benign |
Het |
| Tmem260 |
G |
A |
14: 48,742,785 (GRCm39) |
C540Y |
probably damaging |
Het |
| Tmprss15 |
A |
T |
16: 78,831,201 (GRCm39) |
F385I |
probably damaging |
Het |
| Trbv12-2 |
G |
A |
6: 41,095,774 (GRCm39) |
|
probably benign |
Het |
| Upk3bl |
T |
A |
5: 136,089,133 (GRCm39) |
Y196* |
probably null |
Het |
|
| Other mutations in Vmn1r199 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00930:Vmn1r199
|
APN |
13 |
22,567,029 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL01959:Vmn1r199
|
APN |
13 |
22,567,290 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02270:Vmn1r199
|
APN |
13 |
22,567,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02687:Vmn1r199
|
APN |
13 |
22,566,961 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03143:Vmn1r199
|
APN |
13 |
22,567,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0528:Vmn1r199
|
UTSW |
13 |
22,566,736 (GRCm39) |
missense |
probably benign |
|
|
R1411:Vmn1r199
|
UTSW |
13 |
22,567,671 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2075:Vmn1r199
|
UTSW |
13 |
22,567,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5057:Vmn1r199
|
UTSW |
13 |
22,567,575 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5977:Vmn1r199
|
UTSW |
13 |
22,567,416 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6019:Vmn1r199
|
UTSW |
13 |
22,566,769 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6419:Vmn1r199
|
UTSW |
13 |
22,567,777 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7624:Vmn1r199
|
UTSW |
13 |
22,566,906 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7637:Vmn1r199
|
UTSW |
13 |
22,566,845 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8505:Vmn1r199
|
UTSW |
13 |
22,567,317 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8692:Vmn1r199
|
UTSW |
13 |
22,567,809 (GRCm39) |
makesense |
probably null |
|
|
R8735:Vmn1r199
|
UTSW |
13 |
22,567,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8791:Vmn1r199
|
UTSW |
13 |
22,567,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9054:Vmn1r199
|
UTSW |
13 |
22,567,724 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9258:Vmn1r199
|
UTSW |
13 |
22,566,822 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9586:Vmn1r199
|
UTSW |
13 |
22,567,716 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGACAGATTGTGCCTTTTCC -3'
(R):5'- GTAGCCAACAGAGATTGAGATTTC -3'
Sequencing Primer
(F):5'- CCTAATTTTAAGTCTCTCCTCAAAGG -3'
(R):5'- TCTGCTACAAATGCAGCTGG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation