Incidental Mutation 'R5507:Vmn2r96'
ID |
431009 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r96
|
Ensembl Gene |
ENSMUSG00000091679 |
Gene Name |
vomeronasal 2, receptor 96 |
Synonyms |
EG433070 |
MMRRC Submission |
043068-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.157)
|
Stock # |
R5507 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
18793282-18818419 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 18818091 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 556
(L556Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131564
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165692]
[ENSMUST00000177244]
[ENSMUST00000231261]
[ENSMUST00000231286]
|
AlphaFold |
E9PZU5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165692
AA Change: L556Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131564 Gene: ENSMUSG00000091679 AA Change: L556Q
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
1 |
257 |
8.6e-20 |
PFAM |
Pfam:NCD3G
|
317 |
370 |
3.7e-22 |
PFAM |
Pfam:7tm_3
|
402 |
638 |
3.9e-53 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000177244
AA Change: L748Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000135095 Gene: ENSMUSG00000091679 AA Change: L748Q
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
1 |
245 |
4.2e-19 |
PFAM |
Pfam:NCD3G
|
317 |
370 |
6.9e-21 |
PFAM |
Pfam:7tm_3
|
400 |
639 |
3.4e-75 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231261
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000231286
AA Change: L748Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.2%
|
Validation Efficiency |
100% (66/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700009N14Rik |
A |
G |
4: 39,451,084 (GRCm39) |
T97A |
probably damaging |
Het |
1700017N19Rik |
T |
C |
10: 100,445,095 (GRCm39) |
S27P |
probably benign |
Het |
Acoxl |
C |
A |
2: 127,726,394 (GRCm39) |
A256E |
probably damaging |
Het |
Akap9 |
A |
G |
5: 4,018,683 (GRCm39) |
E1088G |
probably benign |
Het |
Alox12 |
T |
C |
11: 70,145,238 (GRCm39) |
T112A |
possibly damaging |
Het |
Ampd2 |
A |
G |
3: 107,984,929 (GRCm39) |
V379A |
probably damaging |
Het |
Ap4e1 |
C |
A |
2: 126,850,818 (GRCm39) |
H49N |
probably damaging |
Het |
Arhgap11a |
T |
C |
2: 113,672,023 (GRCm39) |
T260A |
probably benign |
Het |
Atg2a |
T |
C |
19: 6,295,100 (GRCm39) |
F171S |
possibly damaging |
Het |
Bpifb9b |
A |
T |
2: 154,158,947 (GRCm39) |
Y488F |
possibly damaging |
Het |
C2cd2 |
T |
C |
16: 97,682,820 (GRCm39) |
T139A |
probably benign |
Het |
Cct8l1 |
A |
T |
5: 25,721,377 (GRCm39) |
T31S |
probably benign |
Het |
Cdhr1 |
A |
T |
14: 36,804,802 (GRCm39) |
N469K |
probably damaging |
Het |
Chga |
T |
C |
12: 102,528,868 (GRCm39) |
S282P |
probably benign |
Het |
Chrnb4 |
T |
G |
9: 54,942,296 (GRCm39) |
H326P |
probably damaging |
Het |
Cntnap1 |
A |
G |
11: 101,074,303 (GRCm39) |
T748A |
probably benign |
Het |
Cpsf3 |
T |
A |
12: 21,347,929 (GRCm39) |
L250H |
probably damaging |
Het |
Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
Dppa5a |
T |
A |
9: 78,275,353 (GRCm39) |
D10V |
possibly damaging |
Het |
Dsc2 |
G |
A |
18: 20,179,336 (GRCm39) |
T244I |
probably damaging |
Het |
Elavl4 |
T |
C |
4: 110,070,403 (GRCm39) |
T144A |
probably benign |
Het |
Ephb1 |
C |
T |
9: 101,813,315 (GRCm39) |
V776M |
probably damaging |
Het |
Fcrl1 |
C |
T |
3: 87,298,549 (GRCm39) |
S348F |
probably benign |
Het |
Fga |
T |
A |
3: 82,940,643 (GRCm39) |
W766R |
probably damaging |
Het |
Galnt14 |
A |
G |
17: 73,802,661 (GRCm39) |
V477A |
probably damaging |
Het |
Gcdh |
A |
G |
8: 85,619,486 (GRCm39) |
L103P |
probably damaging |
Het |
Gm27013 |
G |
A |
6: 130,652,942 (GRCm39) |
T840I |
probably damaging |
Het |
Gpr179 |
A |
T |
11: 97,229,156 (GRCm39) |
W1000R |
probably damaging |
Het |
Hectd4 |
C |
T |
5: 121,419,164 (GRCm39) |
A581V |
unknown |
Het |
Ints12 |
T |
A |
3: 132,814,921 (GRCm39) |
V376E |
probably damaging |
Het |
Krt77 |
T |
C |
15: 101,769,665 (GRCm39) |
I402V |
probably benign |
Het |
Marchf1 |
T |
C |
8: 66,871,542 (GRCm39) |
V102A |
probably damaging |
Het |
Meis1 |
A |
T |
11: 18,966,168 (GRCm39) |
N68K |
probably benign |
Het |
Mthfd1l |
A |
G |
10: 4,056,432 (GRCm39) |
E916G |
probably benign |
Het |
Muc5ac |
T |
C |
7: 141,361,569 (GRCm39) |
F1627L |
possibly damaging |
Het |
Myef2 |
A |
T |
2: 124,958,623 (GRCm39) |
M102K |
probably benign |
Het |
Naip6 |
A |
C |
13: 100,435,423 (GRCm39) |
H1033Q |
probably benign |
Het |
Nid1 |
T |
A |
13: 13,663,622 (GRCm39) |
C760* |
probably null |
Het |
Nt5dc1 |
A |
T |
10: 34,273,226 (GRCm39) |
C191S |
probably benign |
Het |
Nup214 |
A |
G |
2: 31,878,188 (GRCm39) |
E285G |
possibly damaging |
Het |
Nvl |
A |
G |
1: 180,962,601 (GRCm39) |
L123P |
probably damaging |
Het |
Or5t9 |
T |
A |
2: 86,659,661 (GRCm39) |
H188Q |
probably damaging |
Het |
Otog |
A |
G |
7: 45,911,123 (GRCm39) |
E658G |
probably damaging |
Het |
Pam16 |
G |
T |
16: 4,435,880 (GRCm39) |
|
probably benign |
Het |
Psg17 |
T |
C |
7: 18,553,851 (GRCm39) |
D133G |
probably benign |
Het |
Rabgap1l |
A |
G |
1: 160,178,898 (GRCm39) |
S21P |
possibly damaging |
Het |
Rgs22 |
T |
A |
15: 36,099,798 (GRCm39) |
M306L |
probably damaging |
Het |
Ruvbl1 |
A |
G |
6: 88,444,582 (GRCm39) |
K59R |
probably benign |
Het |
Samd9l |
T |
C |
6: 3,373,898 (GRCm39) |
E1121G |
possibly damaging |
Het |
Serpinb13 |
A |
G |
1: 106,926,332 (GRCm39) |
N169S |
probably benign |
Het |
Setbp1 |
T |
A |
18: 79,129,927 (GRCm39) |
T102S |
probably damaging |
Het |
Syn3 |
A |
T |
10: 85,916,090 (GRCm39) |
S299T |
probably benign |
Het |
Taar7a |
A |
G |
10: 23,868,529 (GRCm39) |
L284P |
probably damaging |
Het |
Tlr6 |
C |
A |
5: 65,110,749 (GRCm39) |
Q719H |
probably damaging |
Het |
Tmem131 |
T |
A |
1: 36,928,361 (GRCm39) |
D76V |
probably damaging |
Het |
Tradd |
T |
G |
8: 105,986,257 (GRCm39) |
D145A |
possibly damaging |
Het |
Usp20 |
A |
T |
2: 30,900,238 (GRCm39) |
M251L |
probably benign |
Het |
Xrcc2 |
A |
G |
5: 25,897,317 (GRCm39) |
S211P |
probably benign |
Het |
|
Other mutations in Vmn2r96 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00562:Vmn2r96
|
APN |
17 |
18,804,077 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00563:Vmn2r96
|
APN |
17 |
18,804,077 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00769:Vmn2r96
|
APN |
17 |
18,804,081 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01314:Vmn2r96
|
APN |
17 |
18,803,226 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01983:Vmn2r96
|
APN |
17 |
18,817,527 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02314:Vmn2r96
|
APN |
17 |
18,804,221 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02600:Vmn2r96
|
APN |
17 |
18,817,829 (GRCm39) |
missense |
probably benign |
|
IGL02672:Vmn2r96
|
APN |
17 |
18,818,376 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02750:Vmn2r96
|
APN |
17 |
18,802,851 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03068:Vmn2r96
|
APN |
17 |
18,803,137 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03411:Vmn2r96
|
APN |
17 |
18,806,634 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0316:Vmn2r96
|
UTSW |
17 |
18,802,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R0502:Vmn2r96
|
UTSW |
17 |
18,804,262 (GRCm39) |
missense |
probably benign |
|
R0580:Vmn2r96
|
UTSW |
17 |
18,802,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R0652:Vmn2r96
|
UTSW |
17 |
18,817,830 (GRCm39) |
missense |
probably benign |
0.05 |
R0789:Vmn2r96
|
UTSW |
17 |
18,802,738 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1462:Vmn2r96
|
UTSW |
17 |
18,817,660 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1462:Vmn2r96
|
UTSW |
17 |
18,817,660 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1660:Vmn2r96
|
UTSW |
17 |
18,817,988 (GRCm39) |
missense |
probably benign |
0.00 |
R1755:Vmn2r96
|
UTSW |
17 |
18,802,915 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1843:Vmn2r96
|
UTSW |
17 |
18,818,183 (GRCm39) |
missense |
probably benign |
0.14 |
R1943:Vmn2r96
|
UTSW |
17 |
18,806,664 (GRCm39) |
missense |
probably benign |
0.09 |
R1993:Vmn2r96
|
UTSW |
17 |
18,804,138 (GRCm39) |
missense |
probably damaging |
1.00 |
R2018:Vmn2r96
|
UTSW |
17 |
18,804,263 (GRCm39) |
missense |
probably benign |
|
R2405:Vmn2r96
|
UTSW |
17 |
18,818,102 (GRCm39) |
missense |
probably damaging |
0.96 |
R3977:Vmn2r96
|
UTSW |
17 |
18,817,941 (GRCm39) |
missense |
probably damaging |
1.00 |
R3979:Vmn2r96
|
UTSW |
17 |
18,817,941 (GRCm39) |
missense |
probably damaging |
1.00 |
R4059:Vmn2r96
|
UTSW |
17 |
18,818,339 (GRCm39) |
missense |
probably benign |
0.20 |
R4693:Vmn2r96
|
UTSW |
17 |
18,803,270 (GRCm39) |
missense |
probably benign |
0.03 |
R4709:Vmn2r96
|
UTSW |
17 |
18,803,088 (GRCm39) |
missense |
probably benign |
0.36 |
R4776:Vmn2r96
|
UTSW |
17 |
18,817,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R4882:Vmn2r96
|
UTSW |
17 |
18,817,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R4920:Vmn2r96
|
UTSW |
17 |
18,802,918 (GRCm39) |
missense |
probably benign |
0.07 |
R5143:Vmn2r96
|
UTSW |
17 |
18,804,120 (GRCm39) |
missense |
possibly damaging |
0.65 |
R5301:Vmn2r96
|
UTSW |
17 |
18,817,950 (GRCm39) |
missense |
probably damaging |
0.98 |
R6151:Vmn2r96
|
UTSW |
17 |
18,804,221 (GRCm39) |
missense |
probably benign |
0.01 |
R6181:Vmn2r96
|
UTSW |
17 |
18,804,126 (GRCm39) |
missense |
probably benign |
|
R6339:Vmn2r96
|
UTSW |
17 |
18,804,124 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6404:Vmn2r96
|
UTSW |
17 |
18,817,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R6452:Vmn2r96
|
UTSW |
17 |
18,804,117 (GRCm39) |
missense |
probably benign |
0.07 |
R6749:Vmn2r96
|
UTSW |
17 |
18,818,352 (GRCm39) |
missense |
probably damaging |
0.99 |
R6813:Vmn2r96
|
UTSW |
17 |
18,802,116 (GRCm39) |
missense |
probably benign |
0.04 |
R6851:Vmn2r96
|
UTSW |
17 |
18,802,800 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6944:Vmn2r96
|
UTSW |
17 |
18,817,891 (GRCm39) |
missense |
probably benign |
0.16 |
R6949:Vmn2r96
|
UTSW |
17 |
18,818,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R6962:Vmn2r96
|
UTSW |
17 |
18,818,283 (GRCm39) |
missense |
probably damaging |
0.99 |
R6990:Vmn2r96
|
UTSW |
17 |
18,804,082 (GRCm39) |
missense |
probably benign |
|
R7149:Vmn2r96
|
UTSW |
17 |
18,817,989 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7346:Vmn2r96
|
UTSW |
17 |
18,803,029 (GRCm39) |
missense |
probably benign |
0.15 |
R7385:Vmn2r96
|
UTSW |
17 |
18,803,302 (GRCm39) |
missense |
probably damaging |
1.00 |
R7442:Vmn2r96
|
UTSW |
17 |
18,793,662 (GRCm39) |
missense |
probably benign |
0.02 |
R7509:Vmn2r96
|
UTSW |
17 |
18,802,995 (GRCm39) |
missense |
probably benign |
0.02 |
R7652:Vmn2r96
|
UTSW |
17 |
18,793,832 (GRCm39) |
missense |
probably benign |
|
R7659:Vmn2r96
|
UTSW |
17 |
18,793,749 (GRCm39) |
missense |
probably benign |
0.00 |
R7753:Vmn2r96
|
UTSW |
17 |
18,806,663 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7855:Vmn2r96
|
UTSW |
17 |
18,818,130 (GRCm39) |
missense |
possibly damaging |
0.59 |
R8166:Vmn2r96
|
UTSW |
17 |
18,802,744 (GRCm39) |
missense |
probably damaging |
1.00 |
R8260:Vmn2r96
|
UTSW |
17 |
18,804,243 (GRCm39) |
missense |
probably benign |
0.04 |
R8323:Vmn2r96
|
UTSW |
17 |
18,803,023 (GRCm39) |
missense |
probably damaging |
0.99 |
R8787:Vmn2r96
|
UTSW |
17 |
18,818,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R8837:Vmn2r96
|
UTSW |
17 |
18,802,888 (GRCm39) |
missense |
probably benign |
|
R8933:Vmn2r96
|
UTSW |
17 |
18,804,241 (GRCm39) |
missense |
probably benign |
0.11 |
R9306:Vmn2r96
|
UTSW |
17 |
18,803,226 (GRCm39) |
missense |
probably benign |
0.00 |
R9481:Vmn2r96
|
UTSW |
17 |
18,793,621 (GRCm39) |
start gained |
probably benign |
|
R9626:Vmn2r96
|
UTSW |
17 |
18,793,758 (GRCm39) |
missense |
probably benign |
0.14 |
R9629:Vmn2r96
|
UTSW |
17 |
18,803,257 (GRCm39) |
missense |
probably benign |
0.15 |
Z1088:Vmn2r96
|
UTSW |
17 |
18,817,628 (GRCm39) |
missense |
possibly damaging |
0.86 |
Z1177:Vmn2r96
|
UTSW |
17 |
18,818,376 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAAGGGGTCCGAACTACATC -3'
(R):5'- TTGGGACCGAATATGAAGGC -3'
Sequencing Primer
(F):5'- GGGGTCCGAACTACATCATTCC -3'
(R):5'- GATAGAGAATACTTCCATGGCTACC -3'
|
Posted On |
2016-10-05 |