Incidental Mutation 'R6696:Vmn2r7'
| ID |
528569 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r7
|
| Ensembl Gene |
ENSMUSG00000116028 |
| Gene Name |
vomeronasal 2, receptor 7 |
| Synonyms |
4933425M15Rik |
| MMRRC Submission |
044814-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R6696 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
64598081-64627023 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 64614495 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 440
(F440I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161972]
[ENSMUST00000168072]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161972
AA Change: F531I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000124192
Gene: ENSMUSG00000062200
AA Change: F531I
| 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 |
probably benign
Transcript: ENSMUST00000168072
AA Change: F440I
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000131220
Gene: ENSMUSG00000116028
AA Change: F440I
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap25 |
G |
T |
6: 87,442,633 (GRCm39) |
H350Q |
probably damaging |
Het |
| Arhgap25 |
C |
A |
6: 87,443,545 (GRCm39) |
V305F |
probably damaging |
Het |
| Atg3 |
A |
T |
16: 44,995,644 (GRCm39) |
I126F |
possibly damaging |
Het |
| Best2 |
A |
T |
8: 85,737,873 (GRCm39) |
L174* |
probably null |
Het |
| Ccdc134 |
T |
A |
15: 82,015,722 (GRCm39) |
D67E |
probably damaging |
Het |
| Coasy |
G |
T |
11: 100,973,927 (GRCm39) |
R31L |
possibly damaging |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Dhrs7l |
C |
T |
12: 72,666,255 (GRCm39) |
A139T |
possibly damaging |
Het |
| Eipr1 |
C |
A |
12: 28,909,357 (GRCm39) |
T208N |
probably benign |
Het |
| Epha2 |
A |
G |
4: 141,048,850 (GRCm39) |
T606A |
probably benign |
Het |
| Fan1 |
A |
T |
7: 63,999,826 (GRCm39) |
I853N |
probably damaging |
Het |
| Fbxw18 |
A |
C |
9: 109,517,832 (GRCm39) |
S385A |
probably benign |
Het |
| Galnt11 |
T |
C |
5: 25,460,112 (GRCm39) |
V307A |
probably benign |
Het |
| Gata3 |
A |
T |
2: 9,879,303 (GRCm39) |
Y224* |
probably null |
Het |
| Gm527 |
T |
C |
12: 64,967,866 (GRCm39) |
M96T |
possibly damaging |
Het |
| Hivep2 |
T |
C |
10: 14,009,503 (GRCm39) |
F1720S |
probably benign |
Het |
| Hltf |
T |
G |
3: 20,119,470 (GRCm39) |
|
probably null |
Het |
| Imp4 |
T |
C |
1: 34,483,327 (GRCm39) |
V247A |
probably benign |
Het |
| Iqca1 |
G |
A |
1: 90,057,922 (GRCm39) |
T259I |
probably benign |
Het |
| Klra6 |
A |
G |
6: 129,993,696 (GRCm39) |
F192L |
probably benign |
Het |
| Lnp1 |
T |
C |
16: 56,748,149 (GRCm39) |
K48E |
possibly damaging |
Het |
| Lrp4 |
A |
G |
2: 91,327,690 (GRCm39) |
D1513G |
probably benign |
Het |
| Lrrc25 |
G |
A |
8: 71,071,015 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
A |
4: 123,403,596 (GRCm39) |
Y590F |
probably damaging |
Het |
| Mms19 |
C |
A |
19: 41,942,452 (GRCm39) |
V359L |
probably benign |
Het |
| Mns1 |
G |
A |
9: 72,360,044 (GRCm39) |
R398Q |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nme3 |
G |
T |
17: 25,116,268 (GRCm39) |
C158F |
possibly damaging |
Het |
| Pam |
T |
A |
1: 97,813,452 (GRCm39) |
H326L |
possibly damaging |
Het |
| Plcxd1 |
A |
G |
5: 110,249,751 (GRCm39) |
N151S |
possibly damaging |
Het |
| Prep |
A |
T |
10: 45,029,174 (GRCm39) |
N525Y |
probably damaging |
Het |
| Rab11fip5 |
T |
C |
6: 85,318,928 (GRCm39) |
I654V |
possibly damaging |
Het |
| Sbf2 |
T |
A |
7: 110,159,505 (GRCm39) |
Q35L |
probably benign |
Het |
| Shcbp1 |
A |
G |
8: 4,789,262 (GRCm39) |
F519S |
probably damaging |
Het |
| Slc18a3 |
T |
C |
14: 32,186,270 (GRCm39) |
I38V |
possibly damaging |
Het |
| Slc5a2 |
A |
T |
7: 127,869,215 (GRCm39) |
I332F |
probably damaging |
Het |
| Slc7a7 |
C |
T |
14: 54,615,218 (GRCm39) |
|
probably null |
Het |
| Srbd1 |
C |
T |
17: 86,446,619 (GRCm39) |
V47I |
possibly damaging |
Het |
| Synj1 |
C |
G |
16: 90,757,340 (GRCm39) |
V877L |
probably damaging |
Het |
| Tgfbr3 |
C |
T |
5: 107,284,796 (GRCm39) |
V618I |
probably benign |
Het |
| Tmem191 |
C |
T |
16: 17,100,886 (GRCm39) |
|
probably null |
Het |
| Tmem67 |
C |
A |
4: 12,061,754 (GRCm39) |
|
probably null |
Het |
| Tmem94 |
C |
T |
11: 115,682,814 (GRCm39) |
A617V |
probably damaging |
Het |
| Vmn1r71 |
T |
A |
7: 10,482,401 (GRCm39) |
I96F |
probably damaging |
Het |
| Wdr7 |
A |
G |
18: 63,872,401 (GRCm39) |
Q445R |
probably benign |
Het |
| Wnk1 |
A |
G |
6: 119,925,243 (GRCm39) |
L1407P |
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 |
|
R5091:Vmn2r7
|
UTSW |
3 |
64,598,205 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
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 |
|
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'- TGTGTTCCAATGAAACATTCTCAA -3'
(R):5'- TCATTATTAGCTATGGTTGTACTTGAC -3'
Sequencing Primer
(F):5'- ACAAAAAGACCATATGCTACATTCAG -3'
(R):5'- CCTCAATTGGCACATGGA -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation