Incidental Mutation 'R7346:Vmn2r96'
| ID |
570234 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r96
|
| Ensembl Gene |
ENSMUSG00000091679 |
| Gene Name |
vomeronasal 2, receptor 96 |
| Synonyms |
EG433070 |
| MMRRC Submission |
045373-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
R7346 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
18793282-18818419 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18803029 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 313
(M313T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135095
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165692]
[ENSMUST00000177244]
[ENSMUST00000231261]
[ENSMUST00000231286]
|
| AlphaFold |
E9PZU5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165692
AA Change: M121T
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000131564
Gene: ENSMUSG00000091679
AA Change: M121T
| 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 benign
Transcript: ENSMUST00000177244
AA Change: M313T
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000135095
Gene: ENSMUSG00000091679
AA Change: M313T
| 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 benign
Transcript: ENSMUST00000231286
AA Change: M313T
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.1%
|
| Validation Efficiency |
100% (71/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
G |
A |
9: 55,914,587 (GRCm39) |
P52S |
unknown |
Het |
| Adarb2 |
A |
G |
13: 8,620,420 (GRCm39) |
E302G |
probably damaging |
Het |
| Adgrf5 |
T |
A |
17: 43,762,070 (GRCm39) |
L1255H |
probably damaging |
Het |
| Adra1a |
T |
A |
14: 66,875,733 (GRCm39) |
I236N |
probably benign |
Het |
| As3mt |
T |
C |
19: 46,708,891 (GRCm39) |
F295S |
probably damaging |
Het |
| Bmp5 |
G |
A |
9: 75,780,642 (GRCm39) |
R313Q |
probably damaging |
Het |
| Ccnj |
T |
A |
19: 40,833,394 (GRCm39) |
S191T |
probably benign |
Het |
| Clk2 |
T |
A |
3: 89,080,852 (GRCm39) |
|
probably null |
Het |
| Cpz |
T |
C |
5: 35,675,000 (GRCm39) |
E83G |
probably damaging |
Het |
| Cts3 |
A |
G |
13: 61,715,434 (GRCm39) |
I133T |
probably benign |
Het |
| Dars2 |
C |
T |
1: 160,874,342 (GRCm39) |
|
probably null |
Het |
| Dsel |
A |
T |
1: 111,788,798 (GRCm39) |
V579D |
probably damaging |
Het |
| Dync1h1 |
C |
A |
12: 110,602,076 (GRCm39) |
A2038E |
probably damaging |
Het |
| Eaf1 |
A |
G |
14: 31,216,777 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
A |
C |
2: 82,828,524 (GRCm39) |
I6774L |
probably benign |
Het |
| Glis2 |
T |
C |
16: 4,431,432 (GRCm39) |
F320L |
possibly damaging |
Het |
| Hcar1 |
A |
G |
5: 124,017,693 (GRCm39) |
|
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,797,104 (GRCm39) |
H2211Q |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,559,496 (GRCm39) |
I2385T |
probably damaging |
Het |
| Ifi44 |
T |
A |
3: 151,438,094 (GRCm39) |
M398L |
probably benign |
Het |
| Il16 |
C |
T |
7: 83,293,249 (GRCm39) |
E1273K |
probably damaging |
Het |
| Inpp5j |
G |
A |
11: 3,451,065 (GRCm39) |
T528I |
probably damaging |
Het |
| Kbtbd6 |
C |
T |
14: 79,690,627 (GRCm39) |
P441S |
probably damaging |
Het |
| Kcnt1 |
C |
T |
2: 25,753,855 (GRCm39) |
|
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,358,306 (GRCm39) |
L139P |
probably damaging |
Het |
| Klb |
C |
T |
5: 65,505,974 (GRCm39) |
Q74* |
probably null |
Het |
| L3mbtl1 |
G |
A |
2: 162,808,926 (GRCm39) |
V600I |
probably benign |
Het |
| Lcp1 |
C |
T |
14: 75,447,946 (GRCm39) |
A317V |
possibly damaging |
Het |
| Lipc |
C |
T |
9: 70,720,029 (GRCm39) |
G326D |
probably damaging |
Het |
| Mbnl2 |
T |
A |
14: 120,616,694 (GRCm39) |
F103I |
probably benign |
Het |
| Mdm1 |
G |
T |
10: 118,000,193 (GRCm39) |
E609* |
probably null |
Het |
| Med16 |
A |
G |
10: 79,744,650 (GRCm39) |
|
probably null |
Het |
| Mga |
T |
C |
2: 119,766,008 (GRCm39) |
V1424A |
possibly damaging |
Het |
| Mocs2 |
G |
T |
13: 114,964,710 (GRCm39) |
|
probably null |
Het |
| Morc1 |
C |
T |
16: 48,451,263 (GRCm39) |
|
probably null |
Het |
| Mpc2 |
T |
A |
1: 165,307,080 (GRCm39) |
W94R |
probably damaging |
Het |
| Mrm3 |
G |
A |
11: 76,141,002 (GRCm39) |
V337I |
possibly damaging |
Het |
| N4bp3 |
T |
C |
11: 51,536,433 (GRCm39) |
H133R |
probably benign |
Het |
| Ncam2 |
G |
T |
16: 81,420,256 (GRCm39) |
G810V |
probably damaging |
Het |
| Nipbl |
T |
C |
15: 8,373,090 (GRCm39) |
E1052G |
possibly damaging |
Het |
| Nlrp12 |
C |
T |
7: 3,297,887 (GRCm39) |
V95M |
probably damaging |
Het |
| Nrip1 |
T |
C |
16: 76,090,244 (GRCm39) |
N438D |
possibly damaging |
Het |
| Nsun4 |
C |
A |
4: 115,909,035 (GRCm39) |
M508I |
probably benign |
Het |
| Pla2g2c |
T |
C |
4: 138,461,650 (GRCm39) |
S40P |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,082,178 (GRCm39) |
|
probably null |
Het |
| Ppfia2 |
G |
T |
10: 106,693,356 (GRCm39) |
M620I |
possibly damaging |
Het |
| Ppp6c |
A |
G |
2: 39,116,229 (GRCm39) |
Y9H |
probably damaging |
Het |
| Prkd1 |
A |
T |
12: 50,695,617 (GRCm39) |
I47N |
possibly damaging |
Het |
| Prr14l |
T |
C |
5: 32,988,028 (GRCm39) |
D489G |
probably benign |
Het |
| Ptch2 |
T |
A |
4: 116,971,849 (GRCm39) |
Y1124N |
probably benign |
Het |
| Ptpra |
T |
G |
2: 130,395,320 (GRCm39) |
Y808D |
probably damaging |
Het |
| Rint1 |
T |
A |
5: 24,020,651 (GRCm39) |
F558Y |
possibly damaging |
Het |
| Rnf215 |
T |
A |
11: 4,089,792 (GRCm39) |
C268* |
probably null |
Het |
| Slc25a13 |
T |
C |
6: 6,181,100 (GRCm39) |
E28G |
possibly damaging |
Het |
| Slc38a8 |
G |
T |
8: 120,226,554 (GRCm39) |
Y78* |
probably null |
Het |
| Slc4a7 |
T |
C |
14: 14,775,000 (GRCm38) |
M810T |
probably damaging |
Het |
| Slitrk1 |
A |
G |
14: 109,150,591 (GRCm39) |
V40A |
possibly damaging |
Het |
| Sobp |
A |
T |
10: 42,898,831 (GRCm39) |
S251R |
probably damaging |
Het |
| Spata31d1a |
G |
A |
13: 59,851,015 (GRCm39) |
S371L |
probably benign |
Het |
| Tada2b |
T |
C |
5: 36,634,180 (GRCm39) |
T133A |
possibly damaging |
Het |
| Tbc1d20 |
A |
G |
2: 152,146,881 (GRCm39) |
D90G |
probably benign |
Het |
| Tek |
T |
A |
4: 94,715,533 (GRCm39) |
I408K |
probably benign |
Het |
| Tgfb2 |
A |
G |
1: 186,382,077 (GRCm39) |
F150S |
probably benign |
Het |
| Tmem63b |
T |
C |
17: 45,977,517 (GRCm39) |
T370A |
probably benign |
Het |
| Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
| Tspan17 |
C |
G |
13: 54,940,434 (GRCm39) |
L34V |
probably benign |
Het |
| Vmn1r238 |
A |
T |
18: 3,123,151 (GRCm39) |
Y88N |
probably damaging |
Het |
| Vmn1r85 |
A |
G |
7: 12,818,964 (GRCm39) |
I60T |
probably damaging |
Het |
| Zp3r |
G |
A |
1: 130,511,217 (GRCm39) |
S387F |
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 |
|
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 |
|
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'- TGGAGAGAAATGGCATCTGC -3'
(R):5'- TGACAGTTTTCCAACACATGAC -3'
Sequencing Primer
(F):5'- GCCTAGCTTTTGTAAAAATGACCCC -3'
(R):5'- GTTTTCCAACACATGACAATTAGTG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation