Incidental Mutation 'R4767:Vmn2r4'
| ID |
366203 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r4
|
| Ensembl Gene |
ENSMUSG00000092049 |
| Gene Name |
vomeronasal 2, receptor 4 |
| Synonyms |
EG637053 |
| MMRRC Submission |
042408-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R4767 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
64388621-64415296 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 64390976 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 577
(C577Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135228
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170280]
[ENSMUST00000175724]
|
| AlphaFold |
K7N784 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170280
AA Change: C488Y
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127513
Gene: ENSMUSG00000092049
AA Change: C488Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
1 |
416 |
2.7e-72 |
PFAM |
|
Pfam:Peripla_BP_6
|
61 |
240 |
1.9e-9 |
PFAM |
|
Pfam:NCD3G
|
458 |
511 |
1.1e-17 |
PFAM |
|
Pfam:7tm_3
|
542 |
779 |
1.8e-75 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000175724
AA Change: C577Y
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135228
Gene: ENSMUSG00000092049
AA Change: C577Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
88 |
505 |
2.3e-75 |
PFAM |
|
Pfam:NCD3G
|
547 |
600 |
4.7e-17 |
PFAM |
|
Pfam:7tm_3
|
633 |
867 |
8.2e-47 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
95% (62/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
T |
C |
11: 46,138,977 (GRCm38) |
|
probably null |
Het |
| Aig1 |
T |
C |
10: 13,801,858 (GRCm38) |
N130S |
probably damaging |
Het |
| Alx1 |
A |
T |
10: 103,025,186 (GRCm38) |
Y160* |
probably null |
Het |
| Ap4e1 |
T |
C |
2: 127,060,438 (GRCm38) |
I755T |
probably benign |
Het |
| Apoc3 |
C |
A |
9: 46,234,535 (GRCm38) |
E21* |
probably null |
Het |
| Atp9b |
G |
T |
18: 80,753,070 (GRCm38) |
H919Q |
probably damaging |
Het |
| Cemip |
T |
G |
7: 83,973,306 (GRCm38) |
Y555S |
probably damaging |
Het |
| Cic |
T |
C |
7: 25,271,600 (GRCm38) |
V252A |
possibly damaging |
Het |
| Cracr2a |
A |
T |
6: 127,611,507 (GRCm38) |
N210Y |
probably damaging |
Het |
| Crocc2 |
G |
A |
1: 93,202,856 (GRCm38) |
R953Q |
possibly damaging |
Het |
| Csnk1d |
A |
G |
11: 120,969,128 (GRCm38) |
S318P |
probably benign |
Het |
| Ddx21 |
A |
G |
10: 62,591,972 (GRCm38) |
L384P |
probably damaging |
Het |
| Dnah5 |
C |
T |
15: 28,270,474 (GRCm38) |
T974I |
probably benign |
Het |
| Duox1 |
A |
G |
2: 122,333,441 (GRCm38) |
Y863C |
possibly damaging |
Het |
| Epg5 |
C |
A |
18: 78,023,283 (GRCm38) |
P2133T |
possibly damaging |
Het |
| Ephb6 |
A |
T |
6: 41,614,185 (GRCm38) |
Q92L |
possibly damaging |
Het |
| Ercc4 |
C |
A |
16: 13,122,095 (GRCm38) |
A73D |
probably damaging |
Het |
| Eva1c |
A |
T |
16: 90,904,347 (GRCm38) |
Y290F |
probably damaging |
Het |
| Galnt5 |
T |
A |
2: 58,028,144 (GRCm38) |
V798E |
possibly damaging |
Het |
| Haus4 |
T |
C |
14: 54,548,885 (GRCm38) |
E149G |
probably damaging |
Het |
| Ighv1-13 |
A |
G |
12: 114,630,936 (GRCm38) |
Y86C |
unknown |
Het |
| Igkv9-120 |
G |
T |
6: 68,050,367 (GRCm38) |
R88S |
possibly damaging |
Het |
| Lama3 |
T |
C |
18: 12,500,563 (GRCm38) |
V1584A |
probably benign |
Het |
| Lamb1 |
A |
G |
12: 31,308,011 (GRCm38) |
E1119G |
probably damaging |
Het |
| Lao1 |
T |
C |
4: 118,967,988 (GRCm38) |
L335P |
probably damaging |
Het |
| Mindy4 |
A |
G |
6: 55,260,565 (GRCm38) |
D375G |
probably damaging |
Het |
| Myo5a |
T |
C |
9: 75,144,076 (GRCm38) |
I317T |
probably damaging |
Het |
| Nhlrc2 |
G |
A |
19: 56,570,466 (GRCm38) |
V128I |
probably benign |
Het |
| Nlrp2 |
C |
T |
7: 5,328,024 (GRCm38) |
D458N |
probably damaging |
Het |
| Or1j18 |
A |
T |
2: 36,734,323 (GRCm38) |
M1L |
probably benign |
Het |
| Or1o1 |
T |
A |
17: 37,406,200 (GRCm38) |
C217* |
probably null |
Het |
| Or5a1 |
G |
T |
19: 12,119,936 (GRCm38) |
H247N |
probably damaging |
Het |
| Or8g24 |
T |
C |
9: 39,078,692 (GRCm38) |
T18A |
possibly damaging |
Het |
| Or9q2 |
A |
T |
19: 13,795,045 (GRCm38) |
C189S |
probably damaging |
Het |
| Parp8 |
T |
C |
13: 116,868,536 (GRCm38) |
H663R |
probably damaging |
Het |
| Pax6 |
T |
C |
2: 105,695,360 (GRCm38) |
S377P |
probably benign |
Het |
| Pi15 |
A |
G |
1: 17,602,766 (GRCm38) |
D63G |
probably benign |
Het |
| Plaa |
A |
G |
4: 94,586,258 (GRCm38) |
|
probably benign |
Het |
| Rbm5 |
C |
A |
9: 107,745,213 (GRCm38) |
W546C |
probably damaging |
Het |
| Rnf123 |
C |
A |
9: 108,052,089 (GRCm38) |
C1257F |
probably damaging |
Het |
| Rnf185 |
A |
G |
11: 3,432,551 (GRCm38) |
S45P |
possibly damaging |
Het |
| Sh3bp1 |
T |
C |
15: 78,904,497 (GRCm38) |
S241P |
possibly damaging |
Het |
| Slfn8 |
G |
A |
11: 83,003,197 (GRCm38) |
A872V |
possibly damaging |
Het |
| Smoc1 |
G |
A |
12: 81,104,773 (GRCm38) |
|
probably null |
Het |
| Sox14 |
A |
T |
9: 99,875,633 (GRCm38) |
W18R |
probably damaging |
Het |
| Spata31d1a |
T |
C |
13: 59,701,155 (GRCm38) |
E1053G |
probably benign |
Het |
| Syne1 |
T |
A |
10: 5,344,866 (GRCm38) |
K1246* |
probably null |
Het |
| Tbrg4 |
A |
C |
11: 6,620,909 (GRCm38) |
S188A |
probably benign |
Het |
| Thnsl2 |
A |
T |
6: 71,134,295 (GRCm38) |
D196E |
probably damaging |
Het |
| Tmem266 |
C |
T |
9: 55,380,741 (GRCm38) |
T34I |
probably damaging |
Het |
| Tmem59l |
C |
A |
8: 70,486,098 (GRCm38) |
R111L |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,430,529 (GRCm38) |
|
probably benign |
Het |
| Trpc6 |
T |
C |
9: 8,643,686 (GRCm38) |
S491P |
probably damaging |
Het |
| Tspan10 |
A |
T |
11: 120,446,166 (GRCm38) |
N254I |
probably damaging |
Het |
| Ubox5 |
A |
T |
2: 130,591,894 (GRCm38) |
L511Q |
probably damaging |
Het |
| Vmn1r183 |
TATCCATC |
TATC |
7: 24,055,106 (GRCm38) |
|
probably null |
Het |
| Vmn2r86 |
A |
T |
10: 130,455,737 (GRCm38) |
M53K |
probably benign |
Het |
| Zfp948 |
T |
A |
17: 21,588,307 (GRCm38) |
I587N |
possibly damaging |
Het |
|
| Other mutations in Vmn2r4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01310:Vmn2r4
|
APN |
3 |
64,409,779 (GRCm38) |
splice site |
probably null |
|
|
IGL01448:Vmn2r4
|
APN |
3 |
64,406,395 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01452:Vmn2r4
|
APN |
3 |
64,406,395 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01454:Vmn2r4
|
APN |
3 |
64,406,395 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01456:Vmn2r4
|
APN |
3 |
64,406,395 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01463:Vmn2r4
|
APN |
3 |
64,406,395 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01467:Vmn2r4
|
APN |
3 |
64,406,395 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01468:Vmn2r4
|
APN |
3 |
64,406,395 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01470:Vmn2r4
|
APN |
3 |
64,406,395 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01476:Vmn2r4
|
APN |
3 |
64,406,395 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01481:Vmn2r4
|
APN |
3 |
64,406,395 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01534:Vmn2r4
|
APN |
3 |
64,406,423 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01636:Vmn2r4
|
APN |
3 |
64,406,236 (GRCm38) |
missense |
probably benign |
0.21 |
|
IGL01879:Vmn2r4
|
APN |
3 |
64,391,010 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02147:Vmn2r4
|
APN |
3 |
64,398,361 (GRCm38) |
splice site |
probably benign |
|
|
IGL02276:Vmn2r4
|
APN |
3 |
64,406,456 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL02432:Vmn2r4
|
APN |
3 |
64,406,400 (GRCm38) |
missense |
probably benign |
0.38 |
|
IGL02533:Vmn2r4
|
APN |
3 |
64,398,419 (GRCm38) |
nonsense |
probably null |
|
|
IGL02655:Vmn2r4
|
APN |
3 |
64,398,465 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02666:Vmn2r4
|
APN |
3 |
64,389,012 (GRCm38) |
missense |
probably benign |
0.10 |
|
IGL02902:Vmn2r4
|
APN |
3 |
64,406,916 (GRCm38) |
missense |
probably benign |
0.22 |
|
IGL03189:Vmn2r4
|
APN |
3 |
64,389,168 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
IGL03250:Vmn2r4
|
APN |
3 |
64,406,642 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03271:Vmn2r4
|
APN |
3 |
64,398,429 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0310:Vmn2r4
|
UTSW |
3 |
64,389,434 (GRCm38) |
nonsense |
probably null |
|
|
R0504:Vmn2r4
|
UTSW |
3 |
64,389,363 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1546:Vmn2r4
|
UTSW |
3 |
64,406,888 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1562:Vmn2r4
|
UTSW |
3 |
64,389,444 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1863:Vmn2r4
|
UTSW |
3 |
64,406,989 (GRCm38) |
missense |
probably benign |
0.33 |
|
R1873:Vmn2r4
|
UTSW |
3 |
64,391,058 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1939:Vmn2r4
|
UTSW |
3 |
64,398,555 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2103:Vmn2r4
|
UTSW |
3 |
64,415,283 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R3083:Vmn2r4
|
UTSW |
3 |
64,389,367 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3687:Vmn2r4
|
UTSW |
3 |
64,389,475 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R3707:Vmn2r4
|
UTSW |
3 |
64,389,474 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3963:Vmn2r4
|
UTSW |
3 |
64,415,151 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4428:Vmn2r4
|
UTSW |
3 |
64,415,169 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4710:Vmn2r4
|
UTSW |
3 |
64,409,780 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4737:Vmn2r4
|
UTSW |
3 |
64,409,963 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4776:Vmn2r4
|
UTSW |
3 |
64,388,661 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4834:Vmn2r4
|
UTSW |
3 |
64,410,063 (GRCm38) |
missense |
probably benign |
0.40 |
|
R4893:Vmn2r4
|
UTSW |
3 |
64,406,255 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4908:Vmn2r4
|
UTSW |
3 |
64,389,055 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R5049:Vmn2r4
|
UTSW |
3 |
64,398,598 (GRCm38) |
splice site |
probably null |
|
|
R5092:Vmn2r4
|
UTSW |
3 |
64,390,952 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5234:Vmn2r4
|
UTSW |
3 |
64,398,457 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R5240:Vmn2r4
|
UTSW |
3 |
64,406,937 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R5704:Vmn2r4
|
UTSW |
3 |
64,409,949 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5897:Vmn2r4
|
UTSW |
3 |
64,415,266 (GRCm38) |
nonsense |
probably null |
|
|
R5907:Vmn2r4
|
UTSW |
3 |
64,391,066 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5924:Vmn2r4
|
UTSW |
3 |
64,389,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6145:Vmn2r4
|
UTSW |
3 |
64,406,943 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6191:Vmn2r4
|
UTSW |
3 |
64,415,281 (GRCm38) |
missense |
probably benign |
0.34 |
|
R6192:Vmn2r4
|
UTSW |
3 |
64,415,278 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6207:Vmn2r4
|
UTSW |
3 |
64,406,505 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6457:Vmn2r4
|
UTSW |
3 |
64,409,957 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6533:Vmn2r4
|
UTSW |
3 |
64,415,098 (GRCm38) |
missense |
probably benign |
|
|
R6545:Vmn2r4
|
UTSW |
3 |
64,406,356 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R6594:Vmn2r4
|
UTSW |
3 |
64,389,310 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7049:Vmn2r4
|
UTSW |
3 |
64,389,129 (GRCm38) |
missense |
probably benign |
0.14 |
|
R7150:Vmn2r4
|
UTSW |
3 |
64,398,477 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7187:Vmn2r4
|
UTSW |
3 |
64,415,260 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7363:Vmn2r4
|
UTSW |
3 |
64,407,011 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7477:Vmn2r4
|
UTSW |
3 |
64,398,429 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7675:Vmn2r4
|
UTSW |
3 |
64,415,236 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7858:Vmn2r4
|
UTSW |
3 |
64,409,805 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7888:Vmn2r4
|
UTSW |
3 |
64,406,522 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8678:Vmn2r4
|
UTSW |
3 |
64,406,970 (GRCm38) |
missense |
probably benign |
|
|
R8743:Vmn2r4
|
UTSW |
3 |
64,409,826 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8841:Vmn2r4
|
UTSW |
3 |
64,406,637 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9671:Vmn2r4
|
UTSW |
3 |
64,409,850 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9778:Vmn2r4
|
UTSW |
3 |
64,415,076 (GRCm38) |
missense |
probably benign |
0.15 |
|
X0019:Vmn2r4
|
UTSW |
3 |
64,406,636 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAAGTCTTTTCCAACTGCAGTAG -3'
(R):5'- TGTAATGGGAAATATGTCTCCATGG -3'
Sequencing Primer
(F):5'- TCCAACTGCAGTAGGAAAAACAG -3'
(R):5'- TGGGAAATATGTCTCCATGGATATAC -3'
|
| Posted On |
2015-12-21 |
Incidental Mutation