Incidental Mutation 'R7611:Vmn2r88'
| ID |
588631 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r88
|
| Ensembl Gene |
ENSMUSG00000000606 |
| Gene Name |
vomeronasal 2, receptor 88 |
| Synonyms |
V2r3, V2r13 |
| MMRRC Submission |
045715-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
R7611 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
51410819-51419527 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 51413997 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Serine
at position 256
(Y256S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022438]
[ENSMUST00000159674]
[ENSMUST00000162998]
[ENSMUST00000228139]
|
| AlphaFold |
L7N1W8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022438
AA Change: Y264S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000022438
Gene: ENSMUSG00000000606
AA Change: Y264S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
76 |
457 |
8.3e-27 |
PFAM |
|
Pfam:NCD3G
|
516 |
570 |
1.2e-18 |
PFAM |
|
Pfam:7tm_3
|
603 |
838 |
1.9e-55 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000125126
Gene: ENSMUSG00000000606
AA Change: Y256S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
30 |
408 |
3.2e-30 |
PFAM |
|
Pfam:NCD3G
|
463 |
516 |
1.2e-19 |
PFAM |
|
Pfam:7tm_3
|
546 |
785 |
3.7e-81 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162998
|
| SMART Domains |
Protein: ENSMUSP00000125409
Gene: ENSMUSG00000068399
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
35 |
115 |
2.2e-25 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000124837
Gene: ENSMUSG00000000606
AA Change: Y231S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
52 |
399 |
3.7e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228139
AA Change: Y256S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029J07Rik |
A |
G |
8: 45,970,451 (GRCm38) |
Y75H |
probably damaging |
Het |
| Acta2 |
G |
A |
19: 34,252,531 (GRCm38) |
T8I |
probably benign |
Het |
| Adcy8 |
C |
T |
15: 64,921,033 (GRCm38) |
G25S |
probably benign |
Het |
| Ahnak2 |
G |
T |
12: 112,788,129 (GRCm38) |
D35E |
|
Het |
| Birc6 |
T |
C |
17: 74,662,718 (GRCm38) |
M4261T |
probably damaging |
Het |
| Caln1 |
T |
G |
5: 130,506,077 (GRCm38) |
F45V |
probably damaging |
Het |
| Camta2 |
A |
T |
11: 70,681,546 (GRCm38) |
I313N |
possibly damaging |
Het |
| Capns1 |
T |
A |
7: 30,190,114 (GRCm38) |
E220V |
probably damaging |
Het |
| Carmil1 |
C |
A |
13: 24,013,332 (GRCm38) |
V1374L |
probably benign |
Het |
| Casp2 |
T |
G |
6: 42,274,038 (GRCm38) |
L290R |
possibly damaging |
Het |
| Cdkn2b |
C |
A |
4: 89,310,743 (GRCm38) |
V19L |
probably benign |
Het |
| Ces1c |
T |
C |
8: 93,124,511 (GRCm38) |
N162D |
probably benign |
Het |
| Chd9 |
T |
C |
8: 91,036,389 (GRCm38) |
S2281P |
probably damaging |
Het |
| Chst13 |
T |
C |
6: 90,309,017 (GRCm38) |
D321G |
probably damaging |
Het |
| Ckap2l |
G |
T |
2: 129,285,680 (GRCm38) |
P193T |
possibly damaging |
Het |
| Clca4b |
T |
A |
3: 144,921,996 (GRCm38) |
T405S |
probably benign |
Het |
| Cmah |
T |
C |
13: 24,435,647 (GRCm38) |
V265A |
probably benign |
Het |
| Cyp3a11 |
A |
T |
5: 145,860,381 (GRCm38) |
M396K |
probably benign |
Het |
| Ddr2 |
A |
T |
1: 169,998,158 (GRCm38) |
M291K |
possibly damaging |
Het |
| Ddx43 |
T |
A |
9: 78,402,353 (GRCm38) |
I145N |
probably benign |
Het |
| Ddx58 |
T |
C |
4: 40,225,651 (GRCm38) |
E250G |
probably damaging |
Het |
| Ephb2 |
T |
A |
4: 136,660,901 (GRCm38) |
|
probably null |
Het |
| Fgfr1 |
A |
T |
8: 25,558,205 (GRCm38) |
K106* |
probably null |
Het |
| Gpr6 |
A |
G |
10: 41,070,879 (GRCm38) |
F236L |
probably benign |
Het |
| Grin2c |
A |
G |
11: 115,252,685 (GRCm38) |
S750P |
probably damaging |
Het |
| Hecw2 |
A |
G |
1: 53,913,300 (GRCm38) |
S925P |
probably damaging |
Het |
| Hivep3 |
CGG |
CG |
4: 120,097,911 (GRCm38) |
1141 |
probably null |
Het |
| Hmg20b |
T |
A |
10: 81,349,598 (GRCm38) |
|
probably benign |
Het |
| Kcnk10 |
T |
A |
12: 98,518,640 (GRCm38) |
Y79F |
probably damaging |
Het |
| Lrrc30 |
A |
T |
17: 67,632,429 (GRCm38) |
F52Y |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,200,571 (GRCm38) |
K907R |
possibly damaging |
Het |
| Mbd3 |
T |
C |
10: 80,395,518 (GRCm38) |
D63G |
probably damaging |
Het |
| Mettl21a |
C |
T |
1: 64,615,107 (GRCm38) |
A84T |
probably benign |
Het |
| Mmp19 |
A |
G |
10: 128,798,988 (GRCm38) |
D491G |
probably benign |
Het |
| Mug1 |
A |
T |
6: 121,875,428 (GRCm38) |
|
probably null |
Het |
| Myh1 |
A |
T |
11: 67,210,417 (GRCm38) |
H673L |
possibly damaging |
Het |
| Nlrc5 |
T |
C |
8: 94,512,648 (GRCm38) |
|
probably null |
Het |
| Nme9 |
T |
A |
9: 99,470,790 (GRCm38) |
S264R |
probably benign |
Het |
| Nup153 |
T |
C |
13: 46,687,322 (GRCm38) |
T937A |
probably benign |
Het |
| Obsl1 |
T |
C |
1: 75,505,380 (GRCm38) |
E282G |
probably damaging |
Het |
| Olfr1030 |
T |
A |
2: 85,984,063 (GRCm38) |
C74* |
probably null |
Het |
| Olfr1076 |
T |
A |
2: 86,509,053 (GRCm38) |
I198K |
possibly damaging |
Het |
| Olfr1364 |
A |
G |
13: 21,574,318 (GRCm38) |
V46A |
probably benign |
Het |
| Olfr1436 |
T |
A |
19: 12,298,878 (GRCm38) |
M85L |
probably damaging |
Het |
| Olfr1451 |
T |
A |
19: 12,999,067 (GRCm38) |
I27N |
possibly damaging |
Het |
| Olfr724 |
C |
A |
14: 49,960,911 (GRCm38) |
A54S |
probably benign |
Het |
| Olfr98 |
A |
G |
17: 37,262,854 (GRCm38) |
V270A |
probably benign |
Het |
| Pcdhga12 |
T |
C |
18: 37,768,425 (GRCm38) |
F770S |
possibly damaging |
Het |
| Pfkp |
T |
A |
13: 6,605,083 (GRCm38) |
|
probably null |
Het |
| Prr29 |
C |
G |
11: 106,376,332 (GRCm38) |
H58D |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 23,001,220 (GRCm38) |
M1103K |
probably benign |
Het |
| Rsph4a |
C |
T |
10: 33,905,477 (GRCm38) |
P108S |
probably benign |
Het |
| Setd1b |
A |
C |
5: 123,152,594 (GRCm38) |
M875L |
unknown |
Het |
| Slc15a2 |
A |
G |
16: 36,756,311 (GRCm38) |
S485P |
probably benign |
Het |
| Smoc1 |
A |
G |
12: 81,179,670 (GRCm38) |
D423G |
probably damaging |
Het |
| Spast |
T |
A |
17: 74,369,203 (GRCm38) |
V337D |
probably damaging |
Het |
| Spesp1 |
T |
C |
9: 62,272,705 (GRCm38) |
K307R |
possibly damaging |
Het |
| Sulf1 |
A |
G |
1: 12,836,243 (GRCm38) |
E503G |
probably benign |
Het |
| Susd6 |
T |
C |
12: 80,874,567 (GRCm38) |
Y313H |
probably damaging |
Het |
| Them4 |
A |
T |
3: 94,331,558 (GRCm38) |
D224V |
possibly damaging |
Het |
| Tpsg1 |
G |
T |
17: 25,373,210 (GRCm38) |
G86V |
probably damaging |
Het |
| Tspear |
A |
T |
10: 77,881,215 (GRCm38) |
T575S |
probably benign |
Het |
| Usp21 |
A |
T |
1: 171,285,569 (GRCm38) |
H211Q |
probably benign |
Het |
| Vmn1r189 |
T |
C |
13: 22,102,152 (GRCm38) |
S172G |
probably benign |
Het |
| Vmn2r114 |
T |
C |
17: 23,296,970 (GRCm38) |
S516G |
probably damaging |
Het |
| Vmn2r28 |
T |
A |
7: 5,481,256 (GRCm38) |
R648S |
probably benign |
Het |
| Vmn2r6 |
C |
A |
3: 64,565,142 (GRCm38) |
V53F |
probably damaging |
Het |
| Vmn2r76 |
A |
G |
7: 86,230,180 (GRCm38) |
I304T |
probably benign |
Het |
| Zfhx4 |
A |
T |
3: 5,403,771 (GRCm38) |
K3021N |
probably damaging |
Het |
| Zfp647 |
T |
C |
15: 76,911,788 (GRCm38) |
H224R |
probably damaging |
Het |
| Zfp865 |
A |
G |
7: 5,031,131 (GRCm38) |
E705G |
probably damaging |
Het |
|
| Other mutations in Vmn2r88 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Vmn2r88
|
APN |
14 |
51,413,256 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00990:Vmn2r88
|
APN |
14 |
51,413,060 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00990:Vmn2r88
|
APN |
14 |
51,413,125 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00990:Vmn2r88
|
APN |
14 |
51,416,802 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
IGL02308:Vmn2r88
|
APN |
14 |
51,417,980 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
IGL02481:Vmn2r88
|
APN |
14 |
51,414,154 (GRCm38) |
missense |
probably benign |
|
|
IGL02483:Vmn2r88
|
APN |
14 |
51,414,154 (GRCm38) |
missense |
probably benign |
|
|
IGL03241:Vmn2r88
|
APN |
14 |
51,418,373 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0052:Vmn2r88
|
UTSW |
14 |
51,418,700 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R0070:Vmn2r88
|
UTSW |
14 |
51,414,140 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0799:Vmn2r88
|
UTSW |
14 |
51,414,502 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R0906:Vmn2r88
|
UTSW |
14 |
51,418,209 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1322:Vmn2r88
|
UTSW |
14 |
51,414,108 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1352:Vmn2r88
|
UTSW |
14 |
51,418,550 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1639:Vmn2r88
|
UTSW |
14 |
51,416,787 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1780:Vmn2r88
|
UTSW |
14 |
51,418,572 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1834:Vmn2r88
|
UTSW |
14 |
51,413,030 (GRCm38) |
splice site |
probably benign |
|
|
R1911:Vmn2r88
|
UTSW |
14 |
51,418,214 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2113:Vmn2r88
|
UTSW |
14 |
51,418,194 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2120:Vmn2r88
|
UTSW |
14 |
51,413,208 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2126:Vmn2r88
|
UTSW |
14 |
51,413,807 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2348:Vmn2r88
|
UTSW |
14 |
51,414,004 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2881:Vmn2r88
|
UTSW |
14 |
51,418,689 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2884:Vmn2r88
|
UTSW |
14 |
51,413,934 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3081:Vmn2r88
|
UTSW |
14 |
51,418,632 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3933:Vmn2r88
|
UTSW |
14 |
51,413,978 (GRCm38) |
missense |
probably benign |
0.44 |
|
R3967:Vmn2r88
|
UTSW |
14 |
51,413,190 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4091:Vmn2r88
|
UTSW |
14 |
51,415,426 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4378:Vmn2r88
|
UTSW |
14 |
51,413,289 (GRCm38) |
nonsense |
probably null |
|
|
R4397:Vmn2r88
|
UTSW |
14 |
51,417,978 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4418:Vmn2r88
|
UTSW |
14 |
51,418,081 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4609:Vmn2r88
|
UTSW |
14 |
51,418,074 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4647:Vmn2r88
|
UTSW |
14 |
51,418,793 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4672:Vmn2r88
|
UTSW |
14 |
51,418,155 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4684:Vmn2r88
|
UTSW |
14 |
51,413,334 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4686:Vmn2r88
|
UTSW |
14 |
51,413,339 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4720:Vmn2r88
|
UTSW |
14 |
51,413,245 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5046:Vmn2r88
|
UTSW |
14 |
51,413,181 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5063:Vmn2r88
|
UTSW |
14 |
51,411,146 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5619:Vmn2r88
|
UTSW |
14 |
51,413,910 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5652:Vmn2r88
|
UTSW |
14 |
51,418,572 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6020:Vmn2r88
|
UTSW |
14 |
51,418,149 (GRCm38) |
nonsense |
probably null |
|
|
R6103:Vmn2r88
|
UTSW |
14 |
51,415,369 (GRCm38) |
missense |
probably benign |
0.17 |
|
R6674:Vmn2r88
|
UTSW |
14 |
51,414,338 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6799:Vmn2r88
|
UTSW |
14 |
51,413,969 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7089:Vmn2r88
|
UTSW |
14 |
51,418,643 (GRCm38) |
missense |
|
|
|
R7104:Vmn2r88
|
UTSW |
14 |
51,413,796 (GRCm38) |
missense |
|
|
|
R7265:Vmn2r88
|
UTSW |
14 |
51,418,319 (GRCm38) |
missense |
|
|
|
R7316:Vmn2r88
|
UTSW |
14 |
51,414,255 (GRCm38) |
missense |
|
|
|
R7552:Vmn2r88
|
UTSW |
14 |
51,410,858 (GRCm38) |
splice site |
probably null |
|
|
R7667:Vmn2r88
|
UTSW |
14 |
51,417,989 (GRCm38) |
missense |
|
|
|
R7682:Vmn2r88
|
UTSW |
14 |
51,418,449 (GRCm38) |
missense |
|
|
|
R7755:Vmn2r88
|
UTSW |
14 |
51,413,046 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7811:Vmn2r88
|
UTSW |
14 |
51,418,703 (GRCm38) |
missense |
|
|
|
R7882:Vmn2r88
|
UTSW |
14 |
51,413,046 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7957:Vmn2r88
|
UTSW |
14 |
51,413,132 (GRCm38) |
missense |
|
|
|
R7998:Vmn2r88
|
UTSW |
14 |
51,414,108 (GRCm38) |
missense |
|
|
|
R8142:Vmn2r88
|
UTSW |
14 |
51,414,107 (GRCm38) |
missense |
|
|
|
R8186:Vmn2r88
|
UTSW |
14 |
51,418,700 (GRCm38) |
missense |
|
|
|
R8348:Vmn2r88
|
UTSW |
14 |
51,418,796 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8448:Vmn2r88
|
UTSW |
14 |
51,418,796 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8483:Vmn2r88
|
UTSW |
14 |
51,413,073 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R8783:Vmn2r88
|
UTSW |
14 |
51,414,066 (GRCm38) |
missense |
|
|
|
R8859:Vmn2r88
|
UTSW |
14 |
51,418,806 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8916:Vmn2r88
|
UTSW |
14 |
51,411,136 (GRCm38) |
missense |
|
|
|
R8936:Vmn2r88
|
UTSW |
14 |
51,418,526 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R9004:Vmn2r88
|
UTSW |
14 |
51,413,167 (GRCm38) |
missense |
|
|
|
R9038:Vmn2r88
|
UTSW |
14 |
51,414,033 (GRCm38) |
missense |
|
|
|
R9063:Vmn2r88
|
UTSW |
14 |
51,410,872 (GRCm38) |
start gained |
probably benign |
|
|
R9311:Vmn2r88
|
UTSW |
14 |
51,413,046 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9382:Vmn2r88
|
UTSW |
14 |
51,418,740 (GRCm38) |
missense |
|
|
|
R9483:Vmn2r88
|
UTSW |
14 |
51,411,184 (GRCm38) |
missense |
|
|
|
R9602:Vmn2r88
|
UTSW |
14 |
51,413,732 (GRCm38) |
missense |
|
|
|
V5622:Vmn2r88
|
UTSW |
14 |
51,413,127 (GRCm38) |
missense |
probably benign |
|
|
X0024:Vmn2r88
|
UTSW |
14 |
51,413,832 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
X0025:Vmn2r88
|
UTSW |
14 |
51,416,802 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
Z1177:Vmn2r88
|
UTSW |
14 |
51,418,187 (GRCm38) |
missense |
|
|
|
Z1177:Vmn2r88
|
UTSW |
14 |
51,418,046 (GRCm38) |
frame shift |
probably null |
|
|
Z1190:Vmn2r88
|
UTSW |
14 |
51,413,201 (GRCm38) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACATTTGTCCCATGGCATTGTC -3'
(R):5'- GCGGTGTGCAAAAGTAATAGTC -3'
Sequencing Primer
(F):5'- CATGGCATTGTCTCCTTGATG -3'
(R):5'- CGGTGTGCAAAAGTAATAGTCCCATG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation