Incidental Mutation 'R8050:Vmn2r3'
| ID |
618973 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r3
|
| Ensembl Gene |
ENSMUSG00000091572 |
| Gene Name |
vomeronasal 2, receptor 3 |
| Synonyms |
EG637004 |
| MMRRC Submission |
067487-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8050 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
64166225-64197130 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 64178714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 517
(V517D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170244]
[ENSMUST00000176328]
|
| AlphaFold |
H3BJ88 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170244
AA Change: V489D
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126165
Gene: ENSMUSG00000091572
AA Change: V489D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
64 |
479 |
4e-64 |
PFAM |
|
Pfam:NCD3G
|
521 |
574 |
1.1e-17 |
PFAM |
|
Pfam:7tm_3
|
605 |
842 |
2.9e-75 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176328
AA Change: V517D
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000134891
Gene: ENSMUSG00000091572
AA Change: V517D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
92 |
507 |
9.5e-66 |
PFAM |
|
Pfam:NCD3G
|
549 |
602 |
8.8e-17 |
PFAM |
|
Pfam:7tm_3
|
635 |
869 |
8.5e-48 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410002F23Rik |
T |
A |
7: 43,900,677 (GRCm39) |
V194E |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,561,296 (GRCm39) |
N5406S |
probably damaging |
Het |
| Arhgef38 |
T |
A |
3: 132,843,323 (GRCm39) |
R416* |
probably null |
Het |
| Asb7 |
T |
A |
7: 66,328,932 (GRCm39) |
Q36L |
probably benign |
Het |
| Bbof1 |
G |
A |
12: 84,457,991 (GRCm39) |
M85I |
probably benign |
Het |
| Bin1 |
T |
G |
18: 32,539,198 (GRCm39) |
F44V |
probably damaging |
Het |
| Bnc2 |
C |
A |
4: 84,210,573 (GRCm39) |
V599L |
probably benign |
Het |
| Bnip3l |
A |
G |
14: 67,226,651 (GRCm39) |
S181P |
probably damaging |
Het |
| Btnl9 |
A |
G |
11: 49,066,442 (GRCm39) |
L374P |
probably benign |
Het |
| Cd109 |
T |
C |
9: 78,571,633 (GRCm39) |
I424T |
probably benign |
Het |
| Cdhr2 |
G |
A |
13: 54,882,035 (GRCm39) |
V1162M |
probably damaging |
Het |
| Dgkb |
G |
A |
12: 38,174,216 (GRCm39) |
E181K |
probably benign |
Het |
| Dnase1 |
A |
T |
16: 3,855,861 (GRCm39) |
D64V |
probably damaging |
Het |
| E130308A19Rik |
T |
C |
4: 59,719,767 (GRCm39) |
I433T |
probably damaging |
Het |
| Ecsit |
C |
T |
9: 21,987,592 (GRCm39) |
R149H |
probably benign |
Het |
| Eif1ad8 |
G |
A |
12: 87,563,911 (GRCm39) |
R82Q |
possibly damaging |
Het |
| Enpep |
A |
T |
3: 129,099,165 (GRCm39) |
V437E |
probably damaging |
Het |
| Esrp1 |
A |
T |
4: 11,338,767 (GRCm39) |
V679D |
probably damaging |
Het |
| Fa2h |
T |
A |
8: 112,074,817 (GRCm39) |
|
probably null |
Het |
| Fabp1 |
G |
A |
6: 71,176,956 (GRCm39) |
E16K |
probably damaging |
Het |
| Fstl5 |
T |
A |
3: 76,614,810 (GRCm39) |
S624T |
probably benign |
Het |
| Gemin5 |
G |
A |
11: 58,019,686 (GRCm39) |
R1128W |
probably benign |
Het |
| H2bc8 |
T |
C |
13: 23,755,841 (GRCm39) |
S79P |
probably damaging |
Het |
| Hps3 |
T |
C |
3: 20,057,492 (GRCm39) |
H896R |
probably benign |
Het |
| Hsf1 |
T |
A |
15: 76,382,481 (GRCm39) |
I284K |
probably benign |
Het |
| Igkv3-2 |
T |
A |
6: 70,675,988 (GRCm39) |
I99N |
probably damaging |
Het |
| Iqub |
T |
A |
6: 24,503,784 (GRCm39) |
I163F |
possibly damaging |
Het |
| Jak2 |
T |
C |
19: 29,275,732 (GRCm39) |
I724T |
probably damaging |
Het |
| Kbtbd3 |
A |
T |
9: 4,330,408 (GRCm39) |
T261S |
probably benign |
Het |
| Kctd20 |
G |
T |
17: 29,171,732 (GRCm39) |
|
probably null |
Het |
| Kif28 |
C |
T |
1: 179,537,014 (GRCm39) |
V490M |
probably benign |
Het |
| Kif9 |
T |
C |
9: 110,348,208 (GRCm39) |
L677P |
probably damaging |
Het |
| Klhl18 |
T |
C |
9: 110,257,829 (GRCm39) |
Y537C |
probably damaging |
Het |
| Mmut |
T |
A |
17: 41,254,784 (GRCm39) |
I331K |
probably benign |
Het |
| Myo5a |
T |
A |
9: 75,089,228 (GRCm39) |
S1119R |
probably damaging |
Het |
| Napepld |
C |
A |
5: 21,870,319 (GRCm39) |
E366D |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,895,402 (GRCm39) |
V1540A |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,111,738 (GRCm39) |
I130L |
probably benign |
Het |
| Opcml |
T |
C |
9: 28,724,640 (GRCm39) |
V146A |
probably damaging |
Het |
| Or2g7 |
T |
C |
17: 38,378,370 (GRCm39) |
S103P |
probably damaging |
Het |
| Or2r11 |
A |
T |
6: 42,437,764 (GRCm39) |
L63H |
probably damaging |
Het |
| Or7e178 |
C |
T |
9: 20,225,941 (GRCm39) |
D92N |
probably damaging |
Het |
| Pappa2 |
A |
C |
1: 158,675,970 (GRCm39) |
C925W |
probably damaging |
Het |
| Parp12 |
T |
A |
6: 39,066,038 (GRCm39) |
N562Y |
probably damaging |
Het |
| Patj |
C |
A |
4: 98,427,201 (GRCm39) |
H1198Q |
probably benign |
Het |
| Pcyox1 |
T |
A |
6: 86,366,128 (GRCm39) |
K362M |
possibly damaging |
Het |
| Pcyt2 |
T |
C |
11: 120,501,765 (GRCm39) |
Y350C |
probably benign |
Het |
| Pkd1 |
A |
T |
17: 24,784,617 (GRCm39) |
T388S |
probably benign |
Het |
| Prl3d1 |
T |
A |
13: 27,284,011 (GRCm39) |
Y193* |
probably null |
Het |
| Psme1 |
A |
T |
14: 55,817,056 (GRCm39) |
D15V |
possibly damaging |
Het |
| Qrsl1 |
G |
A |
10: 43,750,631 (GRCm39) |
R476C |
probably damaging |
Het |
| Ranbp2 |
A |
G |
10: 58,315,441 (GRCm39) |
N2054D |
probably damaging |
Het |
| Serpinb1c |
T |
A |
13: 33,066,052 (GRCm39) |
K298* |
probably null |
Het |
| Slc22a27 |
A |
T |
19: 7,857,532 (GRCm39) |
M355K |
probably benign |
Het |
| Spp1 |
T |
A |
5: 104,588,280 (GRCm39) |
H227Q |
probably benign |
Het |
| Stam2 |
T |
A |
2: 52,609,785 (GRCm39) |
N75I |
probably damaging |
Het |
| Tacc1 |
T |
C |
8: 25,659,230 (GRCm39) |
T579A |
probably benign |
Het |
| Tbx3 |
A |
G |
5: 119,821,132 (GRCm39) |
D734G |
probably benign |
Het |
| Tmem233 |
G |
T |
5: 116,221,141 (GRCm39) |
S35* |
probably null |
Het |
| Trim43c |
A |
T |
9: 88,722,390 (GRCm39) |
E12V |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,891,540 (GRCm39) |
S463P |
unknown |
Het |
| Uggt2 |
A |
T |
14: 119,263,834 (GRCm39) |
D1065E |
probably damaging |
Het |
| Usp1 |
A |
G |
4: 98,817,150 (GRCm39) |
N114S |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,396,787 (GRCm39) |
E2377G |
|
Het |
| Virma |
T |
A |
4: 11,528,643 (GRCm39) |
H1243Q |
probably benign |
Het |
| Zfp931 |
T |
C |
2: 177,709,889 (GRCm39) |
K166E |
probably damaging |
Het |
| Zp3 |
T |
A |
5: 136,011,604 (GRCm39) |
Y141N |
probably damaging |
Het |
|
| Other mutations in Vmn2r3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01019:Vmn2r3
|
APN |
3 |
64,167,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01468:Vmn2r3
|
APN |
3 |
64,182,382 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL02032:Vmn2r3
|
APN |
3 |
64,182,476 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02405:Vmn2r3
|
APN |
3 |
64,178,620 (GRCm39) |
splice site |
probably benign |
|
|
IGL02640:Vmn2r3
|
APN |
3 |
64,194,816 (GRCm39) |
missense |
probably benign |
|
|
IGL02719:Vmn2r3
|
APN |
3 |
64,183,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02746:Vmn2r3
|
APN |
3 |
64,167,239 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02952:Vmn2r3
|
APN |
3 |
64,186,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03390:Vmn2r3
|
APN |
3 |
64,182,767 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
G1citation:Vmn2r3
|
UTSW |
3 |
64,194,876 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0023:Vmn2r3
|
UTSW |
3 |
64,182,787 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0433:Vmn2r3
|
UTSW |
3 |
64,183,054 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0647:Vmn2r3
|
UTSW |
3 |
64,183,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1071:Vmn2r3
|
UTSW |
3 |
64,182,697 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1536:Vmn2r3
|
UTSW |
3 |
64,182,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1806:Vmn2r3
|
UTSW |
3 |
64,194,810 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1806:Vmn2r3
|
UTSW |
3 |
64,182,893 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1852:Vmn2r3
|
UTSW |
3 |
64,166,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1868:Vmn2r3
|
UTSW |
3 |
64,166,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2072:Vmn2r3
|
UTSW |
3 |
64,182,493 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2240:Vmn2r3
|
UTSW |
3 |
64,166,483 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2446:Vmn2r3
|
UTSW |
3 |
64,182,733 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4133:Vmn2r3
|
UTSW |
3 |
64,183,138 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4159:Vmn2r3
|
UTSW |
3 |
64,194,850 (GRCm39) |
nonsense |
probably null |
|
|
R4494:Vmn2r3
|
UTSW |
3 |
64,182,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4860:Vmn2r3
|
UTSW |
3 |
64,183,022 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4895:Vmn2r3
|
UTSW |
3 |
64,167,182 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4912:Vmn2r3
|
UTSW |
3 |
64,166,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5018:Vmn2r3
|
UTSW |
3 |
64,178,774 (GRCm39) |
missense |
probably benign |
|
|
R5033:Vmn2r3
|
UTSW |
3 |
64,167,220 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5126:Vmn2r3
|
UTSW |
3 |
64,166,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5148:Vmn2r3
|
UTSW |
3 |
64,186,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5414:Vmn2r3
|
UTSW |
3 |
64,166,978 (GRCm39) |
nonsense |
probably null |
|
|
R5785:Vmn2r3
|
UTSW |
3 |
64,166,444 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5905:Vmn2r3
|
UTSW |
3 |
64,182,698 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5992:Vmn2r3
|
UTSW |
3 |
64,167,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6028:Vmn2r3
|
UTSW |
3 |
64,182,698 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6331:Vmn2r3
|
UTSW |
3 |
64,186,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6378:Vmn2r3
|
UTSW |
3 |
64,182,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6775:Vmn2r3
|
UTSW |
3 |
64,183,039 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6822:Vmn2r3
|
UTSW |
3 |
64,194,876 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6826:Vmn2r3
|
UTSW |
3 |
64,182,327 (GRCm39) |
nonsense |
probably null |
|
|
R6886:Vmn2r3
|
UTSW |
3 |
64,166,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6971:Vmn2r3
|
UTSW |
3 |
64,166,668 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7154:Vmn2r3
|
UTSW |
3 |
64,194,732 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7192:Vmn2r3
|
UTSW |
3 |
64,167,364 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7282:Vmn2r3
|
UTSW |
3 |
64,168,825 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7472:Vmn2r3
|
UTSW |
3 |
64,182,953 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7563:Vmn2r3
|
UTSW |
3 |
64,182,770 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7726:Vmn2r3
|
UTSW |
3 |
64,182,939 (GRCm39) |
nonsense |
probably null |
|
|
R7966:Vmn2r3
|
UTSW |
3 |
64,186,235 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8025:Vmn2r3
|
UTSW |
3 |
64,182,871 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8300:Vmn2r3
|
UTSW |
3 |
64,182,347 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8402:Vmn2r3
|
UTSW |
3 |
64,178,617 (GRCm39) |
splice site |
probably benign |
|
|
R8486:Vmn2r3
|
UTSW |
3 |
64,186,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8523:Vmn2r3
|
UTSW |
3 |
64,182,311 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8678:Vmn2r3
|
UTSW |
3 |
64,166,896 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8885:Vmn2r3
|
UTSW |
3 |
64,182,383 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8886:Vmn2r3
|
UTSW |
3 |
64,194,892 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8905:Vmn2r3
|
UTSW |
3 |
64,166,695 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8937:Vmn2r3
|
UTSW |
3 |
64,166,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8955:Vmn2r3
|
UTSW |
3 |
64,168,803 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9172:Vmn2r3
|
UTSW |
3 |
64,186,403 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9485:Vmn2r3
|
UTSW |
3 |
64,183,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9575:Vmn2r3
|
UTSW |
3 |
64,178,735 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9618:Vmn2r3
|
UTSW |
3 |
64,178,724 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0022:Vmn2r3
|
UTSW |
3 |
64,182,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Vmn2r3
|
UTSW |
3 |
64,178,669 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTAAAAGCTTTACATCAGTTGC -3'
(R):5'- GTGGCTTCAGGATATCAGAGCTG -3'
Sequencing Primer
(F):5'- ACATCAGTTGCATTTATTCAGTGCC -3'
(R):5'- ATATCAGAGCTGGTAATAAAAAGAGC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation