Incidental Mutation 'R5091:Vmn2r7'
| ID |
387738 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r7
|
| Ensembl Gene |
ENSMUSG00000116028 |
| Gene Name |
vomeronasal 2, receptor 7 |
| Synonyms |
4933425M15Rik |
| MMRRC Submission |
042680-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R5091 (G1)
|
| Quality Score |
81 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
64598081-64627023 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 64598205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 784
(K784R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161972]
[ENSMUST00000168072]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161972
AA Change: K875R
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000124192
Gene: ENSMUSG00000062200
AA Change: K875R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
90 |
507 |
3.8e-77 |
PFAM |
|
Pfam:NCD3G
|
549 |
602 |
3.4e-17 |
PFAM |
|
Pfam:7tm_3
|
635 |
869 |
1.1e-47 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168072
AA Change: K784R
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000131220
Gene: ENSMUSG00000116028
AA Change: K784R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
1 |
416 |
5.1e-72 |
PFAM |
|
Pfam:Peripla_BP_6
|
63 |
245 |
6.1e-10 |
PFAM |
|
Pfam:NCD3G
|
458 |
511 |
1.8e-17 |
PFAM |
|
Pfam:7tm_3
|
542 |
779 |
4.3e-76 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177146
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
96% (67/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833439L19Rik |
A |
G |
13: 54,701,057 (GRCm39) |
S174P |
probably damaging |
Het |
| 4931414P19Rik |
T |
C |
14: 54,823,168 (GRCm39) |
E343G |
probably damaging |
Het |
| Abca14 |
T |
C |
7: 119,851,497 (GRCm39) |
V825A |
probably damaging |
Het |
| Abca8b |
G |
T |
11: 109,827,210 (GRCm39) |
T1466K |
possibly damaging |
Het |
| Adcy8 |
A |
G |
15: 64,678,553 (GRCm39) |
S467P |
probably damaging |
Het |
| Agbl4 |
T |
C |
4: 110,976,237 (GRCm39) |
V198A |
possibly damaging |
Het |
| Agpat4 |
A |
G |
17: 12,417,699 (GRCm39) |
K80R |
probably benign |
Het |
| Akap8 |
T |
C |
17: 32,535,208 (GRCm39) |
T269A |
probably benign |
Het |
| Ankhd1 |
A |
T |
18: 36,758,080 (GRCm39) |
I925F |
possibly damaging |
Het |
| Aste1 |
A |
G |
9: 105,282,203 (GRCm39) |
Y57C |
probably damaging |
Het |
| Axdnd1 |
A |
G |
1: 156,247,980 (GRCm39) |
S7P |
possibly damaging |
Het |
| BC051019 |
T |
A |
7: 109,319,789 (GRCm39) |
R91S |
probably null |
Het |
| Cavin2 |
C |
A |
1: 51,340,398 (GRCm39) |
N358K |
probably benign |
Het |
| Cd2 |
T |
C |
3: 101,190,355 (GRCm39) |
N196S |
probably benign |
Het |
| Clca3a1 |
C |
T |
3: 144,436,483 (GRCm39) |
V867I |
probably benign |
Het |
| Col6a4 |
T |
A |
9: 105,952,262 (GRCm39) |
K545N |
probably damaging |
Het |
| Cps1 |
T |
A |
1: 67,268,679 (GRCm39) |
|
probably null |
Het |
| Cyp2c65 |
A |
T |
19: 39,076,009 (GRCm39) |
|
probably null |
Het |
| Dcaf6 |
T |
C |
1: 165,157,572 (GRCm39) |
D856G |
possibly damaging |
Het |
| Epcam |
T |
C |
17: 87,949,580 (GRCm39) |
I181T |
probably damaging |
Het |
| Esrp2 |
A |
G |
8: 106,859,061 (GRCm39) |
S562P |
probably damaging |
Het |
| Fcgbpl1 |
A |
C |
7: 27,856,383 (GRCm39) |
I2057L |
probably benign |
Het |
| Ffar4 |
A |
G |
19: 38,085,627 (GRCm39) |
D18G |
probably benign |
Het |
| Gen1 |
C |
T |
12: 11,296,347 (GRCm39) |
V337I |
probably damaging |
Het |
| Gimap8 |
C |
T |
6: 48,633,581 (GRCm39) |
P467S |
possibly damaging |
Het |
| Gnl3 |
T |
A |
14: 30,738,803 (GRCm39) |
H82L |
possibly damaging |
Het |
| Grid2 |
T |
C |
6: 64,053,862 (GRCm39) |
S354P |
probably benign |
Het |
| Ighmbp2 |
T |
A |
19: 3,315,084 (GRCm39) |
T779S |
possibly damaging |
Het |
| Ints15 |
C |
T |
5: 143,293,443 (GRCm39) |
E345K |
possibly damaging |
Het |
| Kif19a |
C |
A |
11: 114,673,923 (GRCm39) |
T348N |
probably damaging |
Het |
| Lrrc15 |
T |
A |
16: 30,092,172 (GRCm39) |
N389I |
probably damaging |
Het |
| Mrps26 |
A |
G |
2: 130,405,886 (GRCm39) |
Y63C |
probably damaging |
Het |
| Myd88 |
C |
A |
9: 119,166,889 (GRCm39) |
V223F |
possibly damaging |
Het |
| Nox4 |
T |
A |
7: 87,025,450 (GRCm39) |
W526R |
probably damaging |
Het |
| Nrg2 |
A |
T |
18: 36,185,838 (GRCm39) |
N300K |
probably damaging |
Het |
| Nsmf |
T |
C |
2: 24,950,464 (GRCm39) |
|
probably benign |
Het |
| Patl2 |
A |
C |
2: 121,954,283 (GRCm39) |
H429Q |
probably benign |
Het |
| Pcdhb12 |
A |
T |
18: 37,568,907 (GRCm39) |
K18* |
probably null |
Het |
| Peg10 |
T |
A |
6: 4,754,511 (GRCm39) |
D97E |
probably benign |
Het |
| Runx1t1 |
C |
T |
4: 13,846,830 (GRCm39) |
Q205* |
probably null |
Het |
| Selenon |
T |
C |
4: 134,275,284 (GRCm39) |
K138R |
probably damaging |
Het |
| Slc13a3 |
T |
C |
2: 165,262,000 (GRCm39) |
E369G |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,248,190 (GRCm39) |
|
probably null |
Het |
| Sptbn4 |
A |
T |
7: 27,068,816 (GRCm39) |
M499K |
probably damaging |
Het |
| Sra1 |
A |
T |
18: 36,803,012 (GRCm39) |
|
probably benign |
Het |
| Stra6 |
T |
C |
9: 58,048,429 (GRCm39) |
L174P |
probably damaging |
Het |
| Syngr1 |
T |
C |
15: 80,000,086 (GRCm39) |
Y66H |
probably damaging |
Het |
| Synpo |
G |
T |
18: 60,735,831 (GRCm39) |
S466* |
probably null |
Het |
| Tenm3 |
T |
A |
8: 48,795,343 (GRCm39) |
M595L |
probably benign |
Het |
| Tnks |
T |
C |
8: 35,308,963 (GRCm39) |
T1099A |
probably benign |
Het |
| Tram1l1 |
G |
T |
3: 124,115,400 (GRCm39) |
V187F |
possibly damaging |
Het |
| Trappc11 |
T |
C |
8: 47,965,639 (GRCm39) |
E529G |
probably benign |
Het |
| Usp17la |
T |
C |
7: 104,510,139 (GRCm39) |
V248A |
probably damaging |
Het |
| Virma |
T |
C |
4: 11,519,392 (GRCm39) |
Y880H |
probably benign |
Het |
| Vmn1r214 |
C |
T |
13: 23,219,571 (GRCm39) |
T355I |
possibly damaging |
Het |
| Wrap53 |
C |
T |
11: 69,453,273 (GRCm39) |
W389* |
probably null |
Het |
| Zfp748 |
A |
G |
13: 67,689,638 (GRCm39) |
S541P |
probably damaging |
Het |
|
| Other mutations in Vmn2r7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00961:Vmn2r7
|
APN |
3 |
64,623,234 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL01762:Vmn2r7
|
APN |
3 |
64,598,856 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL01903:Vmn2r7
|
APN |
3 |
64,626,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02263:Vmn2r7
|
APN |
3 |
64,598,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02458:Vmn2r7
|
APN |
3 |
64,600,446 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02593:Vmn2r7
|
APN |
3 |
64,600,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02797:Vmn2r7
|
APN |
3 |
64,598,666 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL03047:Vmn2r7
|
UTSW |
3 |
64,614,639 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
PIT4504001:Vmn2r7
|
UTSW |
3 |
64,623,397 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0193:Vmn2r7
|
UTSW |
3 |
64,598,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0329:Vmn2r7
|
UTSW |
3 |
64,598,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0609:Vmn2r7
|
UTSW |
3 |
64,623,900 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0735:Vmn2r7
|
UTSW |
3 |
64,623,788 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0941:Vmn2r7
|
UTSW |
3 |
64,624,000 (GRCm39) |
missense |
probably benign |
|
|
R1065:Vmn2r7
|
UTSW |
3 |
64,614,559 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1378:Vmn2r7
|
UTSW |
3 |
64,599,025 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1445:Vmn2r7
|
UTSW |
3 |
64,632,223 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1506:Vmn2r7
|
UTSW |
3 |
64,614,500 (GRCm39) |
missense |
probably benign |
|
|
R1509:Vmn2r7
|
UTSW |
3 |
64,623,881 (GRCm39) |
nonsense |
probably null |
|
|
R1519:Vmn2r7
|
UTSW |
3 |
64,623,876 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1706:Vmn2r7
|
UTSW |
3 |
64,598,880 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2113:Vmn2r7
|
UTSW |
3 |
64,599,025 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R3725:Vmn2r7
|
UTSW |
3 |
64,632,412 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R3874:Vmn2r7
|
UTSW |
3 |
64,627,032 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R3902:Vmn2r7
|
UTSW |
3 |
64,626,937 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4084:Vmn2r7
|
UTSW |
3 |
64,600,414 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4117:Vmn2r7
|
UTSW |
3 |
64,623,138 (GRCm39) |
intron |
probably benign |
|
|
R4333:Vmn2r7
|
UTSW |
3 |
64,598,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4551:Vmn2r7
|
UTSW |
3 |
64,598,110 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4643:Vmn2r7
|
UTSW |
3 |
64,623,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4654:Vmn2r7
|
UTSW |
3 |
64,626,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5109:Vmn2r7
|
UTSW |
3 |
64,598,088 (GRCm39) |
missense |
probably null |
0.84 |
|
R5372:Vmn2r7
|
UTSW |
3 |
64,623,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5415:Vmn2r7
|
UTSW |
3 |
64,623,658 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5740:Vmn2r7
|
UTSW |
3 |
64,614,654 (GRCm39) |
missense |
probably benign |
|
|
R5977:Vmn2r7
|
UTSW |
3 |
64,623,464 (GRCm39) |
nonsense |
probably null |
|
|
R6019:Vmn2r7
|
UTSW |
3 |
64,623,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6058:Vmn2r7
|
UTSW |
3 |
64,632,436 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6139:Vmn2r7
|
UTSW |
3 |
64,623,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6696:Vmn2r7
|
UTSW |
3 |
64,614,495 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6887:Vmn2r7
|
UTSW |
3 |
64,598,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6918:Vmn2r7
|
UTSW |
3 |
64,598,760 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6949:Vmn2r7
|
UTSW |
3 |
64,598,542 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6980:Vmn2r7
|
UTSW |
3 |
64,623,987 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7196:Vmn2r7
|
UTSW |
3 |
64,623,198 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7286:Vmn2r7
|
UTSW |
3 |
64,598,301 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7455:Vmn2r7
|
UTSW |
3 |
64,624,014 (GRCm39) |
missense |
probably benign |
|
|
R7557:Vmn2r7
|
UTSW |
3 |
64,632,394 (GRCm39) |
missense |
probably benign |
|
|
R7864:Vmn2r7
|
UTSW |
3 |
64,598,947 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8046:Vmn2r7
|
UTSW |
3 |
64,614,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8068:Vmn2r7
|
UTSW |
3 |
64,623,507 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8252:Vmn2r7
|
UTSW |
3 |
64,600,527 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8814:Vmn2r7
|
UTSW |
3 |
64,623,984 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9497:Vmn2r7
|
UTSW |
3 |
64,614,474 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9722:Vmn2r7
|
UTSW |
3 |
64,598,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTACCCATGAGCATCCGC -3'
(R):5'- ATGTATCACTTTTGGAATGCTGGTC -3'
Sequencing Primer
(F):5'- CGCAGCTGCTTGAAAAACAATGTTC -3'
(R):5'- CACTTTTGGAATGCTGGTCTTTTTC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation