Incidental Mutation 'R5924:Vmn2r4'
| ID |
461702 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r4
|
| Ensembl Gene |
ENSMUSG00000092049 |
| Gene Name |
vomeronasal 2, receptor 4 |
| Synonyms |
EG637053 |
| MMRRC Submission |
044119-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R5924 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
64388621-64415296 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 64389264 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 700
(C700Y)
|
| 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: C611Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127513
Gene: ENSMUSG00000092049
AA Change: C611Y
| 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: C700Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135228
Gene: ENSMUSG00000092049
AA Change: C700Y
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd3 |
T |
C |
18: 10,706,085 (GRCm38) |
Y76C |
probably damaging |
Het |
| Agbl1 |
C |
T |
7: 76,409,234 (GRCm38) |
T204I |
probably benign |
Het |
| Apc2 |
A |
T |
10: 80,312,150 (GRCm38) |
I984F |
probably damaging |
Het |
| Art3 |
A |
T |
5: 92,412,232 (GRCm38) |
|
probably benign |
Het |
| B4galnt4 |
A |
G |
7: 141,070,829 (GRCm38) |
M839V |
probably damaging |
Het |
| Bnip2 |
A |
G |
9: 69,997,162 (GRCm38) |
D67G |
probably benign |
Het |
| Cdhr2 |
A |
C |
13: 54,726,683 (GRCm38) |
D856A |
probably benign |
Het |
| Cep78 |
A |
T |
19: 15,961,066 (GRCm38) |
L506Q |
probably damaging |
Het |
| Col6a1 |
A |
G |
10: 76,718,371 (GRCm38) |
|
probably null |
Het |
| Cyp3a44 |
A |
T |
5: 145,794,327 (GRCm38) |
F221Y |
possibly damaging |
Het |
| Dcakd |
C |
A |
11: 102,999,820 (GRCm38) |
R47L |
probably benign |
Het |
| Ddr2 |
A |
G |
1: 169,994,628 (GRCm38) |
V417A |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,307,327 (GRCm38) |
T1734S |
probably benign |
Het |
| Eefsec |
A |
T |
6: 88,355,547 (GRCm38) |
M227K |
probably damaging |
Het |
| Eif4g3 |
T |
G |
4: 138,201,926 (GRCm38) |
N1628K |
probably damaging |
Het |
| Epha5 |
A |
T |
5: 84,233,674 (GRCm38) |
Y439* |
probably null |
Het |
| Esrp1 |
G |
T |
4: 11,361,174 (GRCm38) |
T324K |
probably damaging |
Het |
| Flnb |
T |
A |
14: 7,890,765 (GRCm38) |
M549K |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 7,773,610 (GRCm38) |
Q418L |
unknown |
Het |
| Ggnbp2 |
A |
G |
11: 84,858,537 (GRCm38) |
S144P |
possibly damaging |
Het |
| Gk5 |
T |
C |
9: 96,150,510 (GRCm38) |
|
probably null |
Het |
| Gpr137 |
A |
G |
19: 6,939,361 (GRCm38) |
L228P |
probably damaging |
Het |
| Gpt2 |
C |
A |
8: 85,493,004 (GRCm38) |
S26R |
probably damaging |
Het |
| Hras |
C |
T |
7: 141,192,461 (GRCm38) |
E91K |
possibly damaging |
Het |
| Ighv1-36 |
G |
A |
12: 114,880,157 (GRCm38) |
P28S |
possibly damaging |
Het |
| Kalrn |
G |
A |
16: 34,243,833 (GRCm38) |
T807M |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,172,972 (GRCm38) |
T365A |
probably benign |
Het |
| Lpin1 |
A |
T |
12: 16,544,657 (GRCm38) |
S795T |
possibly damaging |
Het |
| Magi2 |
A |
C |
5: 20,611,069 (GRCm38) |
M1128L |
probably benign |
Het |
| Magi3 |
A |
T |
3: 104,054,538 (GRCm38) |
|
probably null |
Het |
| Mier1 |
T |
A |
4: 103,159,702 (GRCm38) |
L380* |
probably null |
Het |
| Mtmr14 |
A |
G |
6: 113,253,789 (GRCm38) |
Y118C |
probably damaging |
Het |
| Myof |
A |
T |
19: 37,982,973 (GRCm38) |
M277K |
probably damaging |
Het |
| Nlrp6 |
T |
C |
7: 140,923,490 (GRCm38) |
V473A |
probably damaging |
Het |
| Nsfl1c |
T |
A |
2: 151,505,400 (GRCm38) |
N164K |
probably benign |
Het |
| Olfm3 |
A |
T |
3: 115,122,538 (GRCm38) |
Q353L |
probably benign |
Het |
| Opn5 |
A |
T |
17: 42,611,308 (GRCm38) |
M1K |
probably null |
Het |
| Or2y3 |
A |
G |
17: 38,082,363 (GRCm38) |
V205A |
probably benign |
Het |
| Or4k15 |
A |
G |
14: 50,126,682 (GRCm38) |
Y35C |
probably damaging |
Het |
| Or5d41 |
T |
C |
2: 88,224,547 (GRCm38) |
I162V |
probably benign |
Het |
| Pax8 |
A |
G |
2: 24,421,622 (GRCm38) |
S434P |
probably damaging |
Het |
| Pigo |
G |
A |
4: 43,023,389 (GRCm38) |
Q256* |
probably null |
Het |
| Pik3ap1 |
A |
C |
19: 41,296,456 (GRCm38) |
F597V |
probably damaging |
Het |
| Pkd2 |
A |
G |
5: 104,498,558 (GRCm38) |
K744E |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,004,963 (GRCm38) |
T729A |
probably benign |
Het |
| Rasal1 |
T |
C |
5: 120,675,517 (GRCm38) |
L652P |
probably damaging |
Het |
| Sebox |
T |
C |
11: 78,504,191 (GRCm38) |
|
probably null |
Het |
| Setd2 |
A |
T |
9: 110,574,044 (GRCm38) |
I1918F |
probably benign |
Het |
| Slc24a2 |
A |
T |
4: 87,011,588 (GRCm38) |
|
probably null |
Het |
| Slc28a1 |
G |
T |
7: 81,115,612 (GRCm38) |
G25V |
probably benign |
Het |
| Slc51a |
A |
G |
16: 32,477,172 (GRCm38) |
F259L |
possibly damaging |
Het |
| Slco2a1 |
T |
A |
9: 103,046,699 (GRCm38) |
C37* |
probably null |
Het |
| Speer4f2 |
A |
G |
5: 17,376,624 (GRCm38) |
D188G |
probably damaging |
Het |
| Stim2 |
A |
G |
5: 54,102,643 (GRCm38) |
K156E |
probably benign |
Het |
| Strn4 |
T |
C |
7: 16,838,321 (GRCm38) |
I653T |
probably damaging |
Het |
| Tacr3 |
G |
T |
3: 134,932,299 (GRCm38) |
D406Y |
possibly damaging |
Het |
| Utp20 |
G |
A |
10: 88,815,922 (GRCm38) |
R400C |
probably benign |
Het |
| V1rd19 |
C |
T |
7: 24,003,949 (GRCm38) |
S280L |
probably benign |
Het |
| Zup1 |
A |
T |
10: 33,927,547 (GRCm38) |
C514S |
probably 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 |
|
R4767:Vmn2r4
|
UTSW |
3 |
64,390,976 (GRCm38) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- TTCTTGAACAGGCTTGGAGG -3'
(R):5'- TCCTTGCTTATGAGGAGGCC -3'
Sequencing Primer
(F):5'- GGCTCCAAAACTAAGTAAGCTGTGC -3'
(R):5'- CAGTTACTGTTGTGTATGTGATCCAC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation