Incidental Mutation 'R4574:Vmn2r19'
| ID |
342334 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r19
|
| Ensembl Gene |
ENSMUSG00000091260 |
| Gene Name |
vomeronasal 2, receptor 19 |
| Synonyms |
EG232358 |
| MMRRC Submission |
041797-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R4574 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
123285292-123313496 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 123292939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 327
(S327L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073604
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073948]
|
| AlphaFold |
G5E8G4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073948
AA Change: S327L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000073604
Gene: ENSMUSG00000091260
AA Change: S327L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
81 |
476 |
2.9e-35 |
PFAM |
|
Pfam:NCD3G
|
518 |
571 |
8.3e-23 |
PFAM |
|
Pfam:7tm_3
|
603 |
839 |
7.2e-52 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
97% (63/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1b |
A |
C |
5: 121,638,856 (GRCm39) |
S730A |
probably benign |
Het |
| Adamts9 |
G |
A |
6: 92,856,940 (GRCm39) |
R319* |
probably null |
Het |
| Anapc1 |
G |
T |
2: 128,469,115 (GRCm39) |
S1575R |
probably damaging |
Het |
| Appbp2 |
A |
T |
11: 85,100,764 (GRCm39) |
|
probably null |
Het |
| Bcas2 |
C |
T |
3: 103,081,666 (GRCm39) |
P90S |
probably benign |
Het |
| Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
| Cd101 |
T |
C |
3: 100,920,469 (GRCm39) |
N477D |
probably benign |
Het |
| Cdk12 |
A |
G |
11: 98,111,814 (GRCm39) |
|
probably benign |
Het |
| Clcn4 |
T |
C |
7: 7,290,804 (GRCm39) |
E634G |
probably benign |
Het |
| Cltb |
C |
T |
13: 54,746,574 (GRCm39) |
R64H |
probably damaging |
Het |
| Cpt1b |
G |
T |
15: 89,308,247 (GRCm39) |
|
probably null |
Het |
| Ctf2 |
T |
G |
7: 127,318,556 (GRCm39) |
T148P |
possibly damaging |
Het |
| Ddx23 |
G |
A |
15: 98,545,505 (GRCm39) |
T601I |
probably damaging |
Het |
| Dlx6 |
G |
T |
6: 6,865,305 (GRCm39) |
|
probably benign |
Het |
| Dmrtb1 |
A |
T |
4: 107,534,265 (GRCm39) |
N183K |
possibly damaging |
Het |
| Dnah11 |
A |
G |
12: 117,975,990 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
C |
T |
15: 28,367,909 (GRCm39) |
P2765S |
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,063,164 (GRCm39) |
N2698I |
probably damaging |
Het |
| Fpr-rs6 |
T |
A |
17: 20,403,359 (GRCm39) |
M1L |
probably damaging |
Het |
| Gm4841 |
T |
C |
18: 60,402,998 (GRCm39) |
N365S |
probably benign |
Het |
| Gsdmc2 |
C |
T |
15: 63,699,872 (GRCm39) |
|
probably null |
Het |
| Irx5 |
G |
A |
8: 93,084,890 (GRCm39) |
V27I |
probably damaging |
Het |
| Kmt2e |
T |
A |
5: 23,697,405 (GRCm39) |
V101D |
possibly damaging |
Het |
| Maip1 |
A |
C |
1: 57,452,404 (GRCm39) |
K219Q |
possibly damaging |
Het |
| Mpp7 |
G |
T |
18: 7,353,228 (GRCm39) |
R493S |
probably benign |
Het |
| Ms4a14 |
T |
C |
19: 11,281,335 (GRCm39) |
T408A |
probably benign |
Het |
| Mthfr |
A |
G |
4: 148,127,998 (GRCm39) |
N117S |
possibly damaging |
Het |
| Mtres1 |
T |
A |
10: 43,409,006 (GRCm39) |
S46C |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,176,893 (GRCm39) |
I613V |
probably benign |
Het |
| Neurl1b |
A |
G |
17: 26,650,860 (GRCm39) |
Q44R |
probably benign |
Het |
| Nup54 |
T |
A |
5: 92,573,641 (GRCm39) |
N187I |
probably benign |
Het |
| Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
| Or5ak22 |
C |
A |
2: 85,230,370 (GRCm39) |
C169F |
probably damaging |
Het |
| Pate2 |
C |
A |
9: 35,596,969 (GRCm39) |
|
probably benign |
Het |
| Pccb |
T |
C |
9: 100,867,252 (GRCm39) |
S445G |
probably damaging |
Het |
| Pex3 |
G |
A |
10: 13,411,315 (GRCm39) |
Q188* |
probably null |
Het |
| Pikfyve |
T |
A |
1: 65,231,351 (GRCm39) |
W74R |
probably damaging |
Het |
| Plcl2 |
T |
C |
17: 50,914,874 (GRCm39) |
S628P |
probably damaging |
Het |
| Pnldc1 |
T |
C |
17: 13,111,669 (GRCm39) |
H346R |
probably benign |
Het |
| Pom121l2 |
T |
A |
13: 22,168,572 (GRCm39) |
C948S |
probably benign |
Het |
| Pspc1 |
A |
T |
14: 56,999,404 (GRCm39) |
M284K |
possibly damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,277,919 (GRCm39) |
L414S |
probably damaging |
Het |
| Rgs13 |
T |
A |
1: 144,016,583 (GRCm39) |
K53N |
probably damaging |
Het |
| Rorc |
T |
C |
3: 94,296,291 (GRCm39) |
S163P |
probably benign |
Het |
| Rpl3l |
A |
C |
17: 24,952,984 (GRCm39) |
T315P |
possibly damaging |
Het |
| Rsph3b |
A |
G |
17: 7,172,438 (GRCm39) |
V487A |
probably benign |
Het |
| Rusc2 |
A |
G |
4: 43,416,080 (GRCm39) |
E462G |
probably damaging |
Het |
| Sez6l |
T |
C |
5: 112,576,344 (GRCm39) |
T838A |
probably damaging |
Het |
| Slc22a14 |
A |
G |
9: 119,008,561 (GRCm39) |
Y236H |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,442,457 (GRCm39) |
R1984H |
probably damaging |
Het |
| Steap3 |
G |
T |
1: 120,169,186 (GRCm39) |
D370E |
probably benign |
Het |
| Sumf1 |
A |
G |
6: 108,085,393 (GRCm39) |
|
probably benign |
Het |
| Telo2 |
T |
C |
17: 25,320,647 (GRCm39) |
E754G |
probably damaging |
Het |
| Tjp1 |
A |
G |
7: 64,972,353 (GRCm39) |
F604L |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,639,131 (GRCm39) |
D1734E |
probably benign |
Het |
| Tsfm |
A |
C |
10: 126,864,242 (GRCm39) |
Y158D |
probably damaging |
Het |
| Ubtf |
T |
C |
11: 102,197,591 (GRCm39) |
|
probably benign |
Het |
| Upk3a |
G |
T |
15: 84,904,752 (GRCm39) |
V167F |
possibly damaging |
Het |
| Vps13c |
T |
A |
9: 67,858,965 (GRCm39) |
I2805N |
probably damaging |
Het |
| Zfp592 |
A |
G |
7: 80,673,534 (GRCm39) |
D166G |
possibly damaging |
Het |
|
| Other mutations in Vmn2r19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01407:Vmn2r19
|
APN |
6 |
123,306,826 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02294:Vmn2r19
|
APN |
6 |
123,306,937 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02442:Vmn2r19
|
APN |
6 |
123,286,621 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02871:Vmn2r19
|
APN |
6 |
123,313,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8562:Vmn2r19
|
UTSW |
6 |
123,292,861 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0025:Vmn2r19
|
UTSW |
6 |
123,308,506 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0389:Vmn2r19
|
UTSW |
6 |
123,312,945 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0402:Vmn2r19
|
UTSW |
6 |
123,313,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0411:Vmn2r19
|
UTSW |
6 |
123,286,703 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0554:Vmn2r19
|
UTSW |
6 |
123,313,102 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0578:Vmn2r19
|
UTSW |
6 |
123,312,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1102:Vmn2r19
|
UTSW |
6 |
123,313,132 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1652:Vmn2r19
|
UTSW |
6 |
123,292,656 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1663:Vmn2r19
|
UTSW |
6 |
123,313,411 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1817:Vmn2r19
|
UTSW |
6 |
123,307,011 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1866:Vmn2r19
|
UTSW |
6 |
123,308,597 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1928:Vmn2r19
|
UTSW |
6 |
123,308,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1997:Vmn2r19
|
UTSW |
6 |
123,292,880 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2013:Vmn2r19
|
UTSW |
6 |
123,292,954 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2015:Vmn2r19
|
UTSW |
6 |
123,292,954 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2088:Vmn2r19
|
UTSW |
6 |
123,312,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2126:Vmn2r19
|
UTSW |
6 |
123,293,033 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2128:Vmn2r19
|
UTSW |
6 |
123,285,289 (GRCm39) |
splice site |
probably null |
|
|
R2256:Vmn2r19
|
UTSW |
6 |
123,306,845 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2517:Vmn2r19
|
UTSW |
6 |
123,306,937 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3753:Vmn2r19
|
UTSW |
6 |
123,292,548 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3817:Vmn2r19
|
UTSW |
6 |
123,286,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3929:Vmn2r19
|
UTSW |
6 |
123,292,587 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3934:Vmn2r19
|
UTSW |
6 |
123,292,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4232:Vmn2r19
|
UTSW |
6 |
123,306,871 (GRCm39) |
missense |
probably benign |
|
|
R4886:Vmn2r19
|
UTSW |
6 |
123,286,800 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4995:Vmn2r19
|
UTSW |
6 |
123,306,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5107:Vmn2r19
|
UTSW |
6 |
123,286,602 (GRCm39) |
nonsense |
probably null |
|
|
R5232:Vmn2r19
|
UTSW |
6 |
123,312,916 (GRCm39) |
missense |
probably benign |
|
|
R6102:Vmn2r19
|
UTSW |
6 |
123,306,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6105:Vmn2r19
|
UTSW |
6 |
123,293,054 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6280:Vmn2r19
|
UTSW |
6 |
123,313,212 (GRCm39) |
missense |
probably benign |
|
|
R6393:Vmn2r19
|
UTSW |
6 |
123,293,112 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6502:Vmn2r19
|
UTSW |
6 |
123,293,067 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6617:Vmn2r19
|
UTSW |
6 |
123,313,494 (GRCm39) |
makesense |
probably null |
|
|
R6742:Vmn2r19
|
UTSW |
6 |
123,306,917 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7662:Vmn2r19
|
UTSW |
6 |
123,308,521 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8041:Vmn2r19
|
UTSW |
6 |
123,312,750 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8054:Vmn2r19
|
UTSW |
6 |
123,292,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8074:Vmn2r19
|
UTSW |
6 |
123,312,904 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8267:Vmn2r19
|
UTSW |
6 |
123,313,221 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8287:Vmn2r19
|
UTSW |
6 |
123,308,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8937:Vmn2r19
|
UTSW |
6 |
123,293,283 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9058:Vmn2r19
|
UTSW |
6 |
123,313,021 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9119:Vmn2r19
|
UTSW |
6 |
123,292,527 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9384:Vmn2r19
|
UTSW |
6 |
123,292,923 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0058:Vmn2r19
|
UTSW |
6 |
123,285,308 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Vmn2r19
|
UTSW |
6 |
123,285,298 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Vmn2r19
|
UTSW |
6 |
123,313,036 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGAATTTCCTGCTAAAGACAC -3'
(R):5'- TGTGCTCAGGCTGCCATTTG -3'
Sequencing Primer
(F):5'- GGAAAGATTCTCATTGACACGTG -3'
(R):5'- CCATTTGGCTCACATTTACTTGG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation