Incidental Mutation 'R7385:Vmn2r96'
| ID |
573060 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r96
|
| Ensembl Gene |
ENSMUSG00000091679 |
| Gene Name |
vomeronasal 2, receptor 96 |
| Synonyms |
EG433070 |
| MMRRC Submission |
045467-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.157)
|
| Stock # |
R7385 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
18793282-18818419 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18803302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 404
(Y404C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135095
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165692]
[ENSMUST00000177244]
[ENSMUST00000231261]
[ENSMUST00000231286]
|
| AlphaFold |
E9PZU5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165692
AA Change: Y212C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131564
Gene: ENSMUSG00000091679
AA Change: Y212C
| 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: Y404C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135095
Gene: ENSMUSG00000091679
AA Change: Y404C
| 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: Y404C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (75/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
T |
C |
1: 179,580,946 (GRCm39) |
E1752G |
possibly damaging |
Het |
| Aqp3 |
T |
C |
4: 41,095,178 (GRCm39) |
T68A |
probably damaging |
Het |
| Arhgap40 |
A |
G |
2: 158,385,147 (GRCm39) |
K463R |
probably damaging |
Het |
| Asb10 |
A |
T |
5: 24,738,736 (GRCm39) |
C440* |
probably null |
Het |
| Bach1 |
A |
G |
16: 87,526,385 (GRCm39) |
T616A |
probably damaging |
Het |
| Braf |
T |
A |
6: 39,642,042 (GRCm39) |
|
probably null |
Het |
| Cacna1s |
A |
T |
1: 136,020,371 (GRCm39) |
N803Y |
probably damaging |
Het |
| Cald1 |
A |
G |
6: 34,663,000 (GRCm39) |
E21G |
probably damaging |
Het |
| Caskin1 |
G |
T |
17: 24,722,898 (GRCm39) |
G589C |
probably damaging |
Het |
| Cdc37l1 |
T |
C |
19: 28,968,071 (GRCm39) |
|
probably null |
Het |
| Cntnap5b |
G |
A |
1: 100,306,815 (GRCm39) |
G844D |
probably damaging |
Het |
| Col5a1 |
T |
C |
2: 27,914,762 (GRCm39) |
L1615P |
unknown |
Het |
| Cpt1a |
C |
A |
19: 3,430,155 (GRCm39) |
P672T |
probably damaging |
Het |
| Defb22 |
A |
G |
2: 152,328,117 (GRCm39) |
Y23H |
probably damaging |
Het |
| Depdc1b |
G |
C |
13: 108,500,166 (GRCm39) |
K226N |
probably damaging |
Het |
| Derl2 |
A |
G |
11: 70,909,764 (GRCm39) |
|
probably benign |
Het |
| Dnaja2 |
T |
C |
8: 86,265,982 (GRCm39) |
T368A |
probably benign |
Het |
| Dsg3 |
C |
A |
18: 20,673,254 (GRCm39) |
T975K |
possibly damaging |
Het |
| Eif4enif1 |
T |
A |
11: 3,170,269 (GRCm39) |
D107E |
probably damaging |
Het |
| Fut11 |
A |
G |
14: 20,746,325 (GRCm39) |
D389G |
probably damaging |
Het |
| Gopc |
C |
T |
10: 52,225,328 (GRCm39) |
G299E |
probably damaging |
Het |
| Gprin1 |
T |
C |
13: 54,886,423 (GRCm39) |
D617G |
probably benign |
Het |
| Grin2d |
A |
G |
7: 45,506,960 (GRCm39) |
V505A |
probably damaging |
Het |
| Heatr6 |
T |
C |
11: 83,650,161 (GRCm39) |
Y206H |
probably damaging |
Het |
| Hhex |
C |
A |
19: 37,425,713 (GRCm39) |
N147K |
probably damaging |
Het |
| Igkv4-80 |
G |
A |
6: 68,993,699 (GRCm39) |
S64F |
probably damaging |
Het |
| Jakmip3 |
A |
G |
7: 138,625,068 (GRCm39) |
K360R |
possibly damaging |
Het |
| Kat5 |
AG |
A |
19: 5,658,297 (GRCm39) |
|
probably null |
Het |
| Kat5 |
T |
A |
19: 5,658,302 (GRCm39) |
N191I |
probably benign |
Het |
| Kifc5b |
A |
G |
17: 27,144,597 (GRCm39) |
D572G |
probably damaging |
Het |
| Lrp5 |
C |
A |
19: 3,662,197 (GRCm39) |
|
probably null |
Het |
| Lrtm1 |
A |
G |
14: 28,749,673 (GRCm39) |
M345V |
probably benign |
Het |
| Mbd5 |
T |
C |
2: 49,162,461 (GRCm39) |
V981A |
probably benign |
Het |
| Mier3 |
G |
A |
13: 111,841,783 (GRCm39) |
G115S |
possibly damaging |
Het |
| Mrgprd |
A |
G |
7: 144,875,261 (GRCm39) |
N44S |
probably damaging |
Het |
| Mrps10 |
C |
A |
17: 47,689,146 (GRCm39) |
P181Q |
probably damaging |
Het |
| Myot |
T |
A |
18: 44,470,075 (GRCm39) |
C17* |
probably null |
Het |
| Myt1 |
A |
G |
2: 181,409,498 (GRCm39) |
|
probably null |
Het |
| Ncoa6 |
C |
A |
2: 155,249,721 (GRCm39) |
L1194F |
probably damaging |
Het |
| Or4d11 |
T |
C |
19: 12,013,363 (GRCm39) |
T248A |
probably benign |
Het |
| Or4d6 |
T |
C |
19: 12,086,061 (GRCm39) |
N57S |
probably damaging |
Het |
| Or4e5 |
T |
C |
14: 52,727,638 (GRCm39) |
Y261C |
probably damaging |
Het |
| Or7a39 |
C |
A |
10: 78,715,288 (GRCm39) |
T94K |
probably damaging |
Het |
| Or7e165 |
T |
A |
9: 19,694,507 (GRCm39) |
I26N |
possibly damaging |
Het |
| Osbpl6 |
G |
A |
2: 76,379,794 (GRCm39) |
G128E |
probably damaging |
Het |
| P3h3 |
A |
T |
6: 124,832,233 (GRCm39) |
Y218N |
probably damaging |
Het |
| Paxip1 |
A |
G |
5: 27,986,418 (GRCm39) |
|
probably null |
Het |
| Pdia5 |
T |
C |
16: 35,250,284 (GRCm39) |
Y225C |
probably damaging |
Het |
| Pik3c2g |
T |
G |
6: 139,801,079 (GRCm39) |
M526R |
|
Het |
| Prox1 |
A |
G |
1: 189,894,323 (GRCm39) |
F41L |
probably benign |
Het |
| Psd3 |
A |
T |
8: 68,453,408 (GRCm39) |
F284I |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,699,678 (GRCm39) |
C1392S |
probably benign |
Het |
| Rfxank |
A |
T |
8: 70,587,285 (GRCm39) |
V212E |
probably damaging |
Het |
| Ros1 |
T |
C |
10: 52,031,222 (GRCm39) |
D482G |
probably benign |
Het |
| Sat2 |
A |
T |
11: 69,513,763 (GRCm39) |
I94F |
probably damaging |
Het |
| Scarf2 |
T |
C |
16: 17,621,702 (GRCm39) |
L384P |
probably damaging |
Het |
| Sec14l2 |
C |
A |
11: 4,066,750 (GRCm39) |
E21* |
probably null |
Het |
| Slitrk5 |
T |
A |
14: 111,918,131 (GRCm39) |
V585E |
probably benign |
Het |
| Spata31h1 |
T |
A |
10: 82,123,571 (GRCm39) |
E3146D |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,123,729 (GRCm39) |
S3094G |
probably benign |
Het |
| Tas2r130 |
T |
A |
6: 131,607,226 (GRCm39) |
M190L |
probably benign |
Het |
| Ticrr |
G |
A |
7: 79,341,597 (GRCm39) |
S1061N |
possibly damaging |
Het |
| Tlr9 |
C |
A |
9: 106,102,463 (GRCm39) |
H585N |
probably damaging |
Het |
| Tmem219 |
A |
T |
7: 126,495,947 (GRCm39) |
I142N |
probably damaging |
Het |
| Tnni2 |
A |
G |
7: 141,996,915 (GRCm39) |
N8S |
probably benign |
Het |
| Tnpo2 |
G |
A |
8: 85,776,748 (GRCm39) |
R485H |
probably damaging |
Het |
| Ttc8 |
A |
G |
12: 98,908,547 (GRCm39) |
E72G |
possibly damaging |
Het |
| Upf1 |
A |
G |
8: 70,793,268 (GRCm39) |
Y297H |
probably damaging |
Het |
| Vmn1r4 |
A |
G |
6: 56,933,721 (GRCm39) |
K75R |
probably damaging |
Het |
| Vmn2r78 |
G |
A |
7: 86,571,633 (GRCm39) |
G481D |
probably benign |
Het |
| Vps50 |
T |
A |
6: 3,602,708 (GRCm39) |
S942T |
probably benign |
Het |
| Xkr7 |
C |
A |
2: 152,895,983 (GRCm39) |
S279* |
probably null |
Het |
| Zan |
G |
A |
5: 137,432,416 (GRCm39) |
Q2294* |
probably null |
Het |
| Zan |
T |
C |
5: 137,448,753 (GRCm39) |
Y1700C |
unknown |
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 |
|
R5507:Vmn2r96
|
UTSW |
17 |
18,818,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TTAGACTCATTCCATGGGAGCC -3'
(R):5'- AGATTGCCTAAGTTAGTTGTCTTGC -3'
Sequencing Primer
(F):5'- GGGAGCCTCATTTTTAAGCAC -3'
(R):5'- GCAAATCTCTTATGCCAGAATGCTG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation