Incidental Mutation 'R5227:Vmn2r124'
| ID |
402705 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r124
|
| Ensembl Gene |
ENSMUSG00000094396 |
| Gene Name |
vomeronasal 2, receptor 124 |
| Synonyms |
Vmn2r-ps113, Gm7196 |
| MMRRC Submission |
042800-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.308)
|
| Stock # |
R5227 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
18269746-18294482 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18269819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 25
(I25T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155888
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000176802]
[ENSMUST00000231546]
|
| AlphaFold |
K7N789 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176802
AA Change: I25T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000135613
Gene: ENSMUSG00000094396
AA Change: I25T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
84 |
449 |
2.2e-37 |
PFAM |
|
Pfam:NCD3G
|
510 |
563 |
9.3e-21 |
PFAM |
|
Pfam:7tm_3
|
596 |
831 |
1.6e-52 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231546
AA Change: I25T
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 98.2%
- 20x: 97.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
T |
C |
17: 84,999,249 (GRCm39) |
L115P |
probably damaging |
Het |
| Adgrb3 |
A |
C |
1: 25,133,033 (GRCm39) |
M481R |
possibly damaging |
Het |
| Adgrd1 |
C |
A |
5: 129,199,647 (GRCm39) |
N161K |
probably benign |
Het |
| Alx4 |
T |
A |
2: 93,507,725 (GRCm39) |
V340D |
probably damaging |
Het |
| Arid1a |
A |
G |
4: 133,407,716 (GRCm39) |
S2264P |
unknown |
Het |
| Azi2 |
A |
T |
9: 117,876,526 (GRCm39) |
H14L |
probably damaging |
Het |
| Camsap2 |
A |
G |
1: 136,202,629 (GRCm39) |
|
probably benign |
Het |
| Ccpg1 |
T |
A |
9: 72,919,354 (GRCm39) |
L323* |
probably null |
Het |
| Cpsf1 |
A |
T |
15: 76,483,148 (GRCm39) |
I943N |
probably damaging |
Het |
| Crebrf |
T |
A |
17: 26,978,739 (GRCm39) |
Y476N |
probably damaging |
Het |
| Defb10 |
T |
A |
8: 22,351,894 (GRCm39) |
Y46* |
probably null |
Het |
| Dock3 |
A |
G |
9: 106,863,269 (GRCm39) |
L703P |
probably damaging |
Het |
| Ebf2 |
A |
T |
14: 67,484,518 (GRCm39) |
I181F |
probably damaging |
Het |
| Eif3e |
T |
A |
15: 43,114,917 (GRCm39) |
M420L |
probably benign |
Het |
| Emilin3 |
T |
A |
2: 160,751,185 (GRCm39) |
Q188L |
probably damaging |
Het |
| Fbxl4 |
C |
T |
4: 22,376,840 (GRCm39) |
T92M |
probably damaging |
Het |
| Fer1l6 |
C |
T |
15: 58,453,752 (GRCm39) |
Q687* |
probably null |
Het |
| Fkrp |
T |
C |
7: 16,544,635 (GRCm39) |
E409G |
possibly damaging |
Het |
| Fzd9 |
T |
C |
5: 135,278,460 (GRCm39) |
D475G |
probably benign |
Het |
| Gabbr1 |
C |
T |
17: 37,380,958 (GRCm39) |
T767I |
possibly damaging |
Het |
| Gdf2 |
G |
A |
14: 33,663,451 (GRCm39) |
|
probably null |
Het |
| Gpatch1 |
T |
C |
7: 35,008,776 (GRCm39) |
N82D |
probably benign |
Het |
| Heg1 |
T |
A |
16: 33,583,961 (GRCm39) |
L1256Q |
probably damaging |
Het |
| Ireb2 |
T |
A |
9: 54,803,885 (GRCm39) |
|
probably null |
Het |
| Kansl1 |
T |
G |
11: 104,247,640 (GRCm39) |
H570P |
probably benign |
Het |
| Kcna10 |
T |
G |
3: 107,101,744 (GRCm39) |
M125R |
probably damaging |
Het |
| Lrp1b |
T |
G |
2: 40,741,805 (GRCm39) |
I3041L |
possibly damaging |
Het |
| Mbtd1 |
T |
C |
11: 93,815,474 (GRCm39) |
F354S |
possibly damaging |
Het |
| Mideas |
A |
T |
12: 84,199,661 (GRCm39) |
F1020I |
probably benign |
Het |
| Mov10 |
T |
C |
3: 104,709,894 (GRCm39) |
T331A |
probably benign |
Het |
| Ms4a8a |
A |
T |
19: 11,045,780 (GRCm39) |
S243T |
probably damaging |
Het |
| Ndufa11 |
T |
C |
17: 57,024,867 (GRCm39) |
S10P |
probably benign |
Het |
| Olfml3 |
A |
G |
3: 103,643,737 (GRCm39) |
Y215H |
possibly damaging |
Het |
| Or2t45 |
T |
A |
11: 58,669,705 (GRCm39) |
F251I |
possibly damaging |
Het |
| Or56b2j |
A |
G |
7: 104,353,529 (GRCm39) |
I252V |
possibly damaging |
Het |
| Pclo |
T |
C |
5: 14,763,574 (GRCm39) |
S4016P |
probably benign |
Het |
| Pcyox1 |
G |
C |
6: 86,368,726 (GRCm39) |
A264G |
probably damaging |
Het |
| Pdzrn3 |
C |
T |
6: 101,130,272 (GRCm39) |
D515N |
probably damaging |
Het |
| Pnisr |
A |
G |
4: 21,874,587 (GRCm39) |
|
probably benign |
Het |
| Prc1 |
T |
C |
7: 79,962,927 (GRCm39) |
S574P |
probably damaging |
Het |
| Ranbp3l |
T |
A |
15: 9,037,186 (GRCm39) |
V16D |
probably damaging |
Het |
| Rfx1 |
T |
C |
8: 84,800,687 (GRCm39) |
V96A |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sfmbt1 |
T |
C |
14: 30,537,211 (GRCm39) |
|
probably null |
Het |
| Siglecf |
T |
C |
7: 43,001,364 (GRCm39) |
Y111H |
probably damaging |
Het |
| Snx14 |
G |
A |
9: 88,280,347 (GRCm39) |
T536I |
possibly damaging |
Het |
| Spindoc |
A |
G |
19: 7,351,512 (GRCm39) |
V204A |
probably benign |
Het |
| Sptbn5 |
A |
G |
2: 119,915,812 (GRCm39) |
|
probably benign |
Het |
| Swt1 |
G |
A |
1: 151,278,727 (GRCm39) |
Q227* |
probably null |
Het |
| Tg |
A |
G |
15: 66,631,416 (GRCm39) |
I562V |
possibly damaging |
Het |
| Trip11 |
T |
A |
12: 101,851,179 (GRCm39) |
I677F |
probably damaging |
Het |
| Vmn1r49 |
G |
A |
6: 90,049,753 (GRCm39) |
T83I |
probably benign |
Het |
| Vmn1r90 |
T |
C |
7: 14,295,601 (GRCm39) |
K166E |
possibly damaging |
Het |
| Vps13d |
A |
T |
4: 144,907,777 (GRCm39) |
|
probably null |
Het |
| Zfp106 |
T |
C |
2: 120,354,449 (GRCm39) |
I170V |
probably benign |
Het |
|
| Other mutations in Vmn2r124 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00988:Vmn2r124
|
APN |
17 |
18,282,932 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01356:Vmn2r124
|
APN |
17 |
18,293,733 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01387:Vmn2r124
|
APN |
17 |
18,283,188 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01413:Vmn2r124
|
APN |
17 |
18,282,827 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01550:Vmn2r124
|
APN |
17 |
18,283,617 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01759:Vmn2r124
|
APN |
17 |
18,284,330 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01762:Vmn2r124
|
APN |
17 |
18,283,434 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02132:Vmn2r124
|
APN |
17 |
18,284,491 (GRCm39) |
splice site |
probably benign |
|
|
IGL02290:Vmn2r124
|
APN |
17 |
18,293,597 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02370:Vmn2r124
|
APN |
17 |
18,284,453 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02527:Vmn2r124
|
APN |
17 |
18,286,764 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
PIT4280001:Vmn2r124
|
UTSW |
17 |
18,283,487 (GRCm39) |
missense |
probably benign |
0.22 |
|
PIT4514001:Vmn2r124
|
UTSW |
17 |
18,293,974 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0362:Vmn2r124
|
UTSW |
17 |
18,284,486 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0401:Vmn2r124
|
UTSW |
17 |
18,284,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0513:Vmn2r124
|
UTSW |
17 |
18,293,991 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1139:Vmn2r124
|
UTSW |
17 |
18,294,052 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1513:Vmn2r124
|
UTSW |
17 |
18,283,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1669:Vmn2r124
|
UTSW |
17 |
18,283,206 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1710:Vmn2r124
|
UTSW |
17 |
18,282,187 (GRCm39) |
splice site |
probably benign |
|
|
R1852:Vmn2r124
|
UTSW |
17 |
18,283,436 (GRCm39) |
missense |
probably benign |
|
|
R1860:Vmn2r124
|
UTSW |
17 |
18,269,759 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1953:Vmn2r124
|
UTSW |
17 |
18,283,122 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2233:Vmn2r124
|
UTSW |
17 |
18,269,927 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2234:Vmn2r124
|
UTSW |
17 |
18,269,927 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2235:Vmn2r124
|
UTSW |
17 |
18,269,927 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2397:Vmn2r124
|
UTSW |
17 |
18,269,859 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2519:Vmn2r124
|
UTSW |
17 |
18,294,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3845:Vmn2r124
|
UTSW |
17 |
18,293,953 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3846:Vmn2r124
|
UTSW |
17 |
18,293,953 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4594:Vmn2r124
|
UTSW |
17 |
18,294,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4612:Vmn2r124
|
UTSW |
17 |
18,283,284 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4790:Vmn2r124
|
UTSW |
17 |
18,269,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4809:Vmn2r124
|
UTSW |
17 |
18,294,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5254:Vmn2r124
|
UTSW |
17 |
18,283,339 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5609:Vmn2r124
|
UTSW |
17 |
18,294,102 (GRCm39) |
missense |
probably benign |
|
|
R6145:Vmn2r124
|
UTSW |
17 |
18,283,113 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6181:Vmn2r124
|
UTSW |
17 |
18,294,019 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6271:Vmn2r124
|
UTSW |
17 |
18,283,145 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7297:Vmn2r124
|
UTSW |
17 |
18,293,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7397:Vmn2r124
|
UTSW |
17 |
18,282,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7406:Vmn2r124
|
UTSW |
17 |
18,282,306 (GRCm39) |
missense |
unknown |
|
|
R7699:Vmn2r124
|
UTSW |
17 |
18,293,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7859:Vmn2r124
|
UTSW |
17 |
18,282,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8121:Vmn2r124
|
UTSW |
17 |
18,282,433 (GRCm39) |
missense |
probably benign |
|
|
R8138:Vmn2r124
|
UTSW |
17 |
18,283,610 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8756:Vmn2r124
|
UTSW |
17 |
18,294,094 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8796:Vmn2r124
|
UTSW |
17 |
18,282,933 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8841:Vmn2r124
|
UTSW |
17 |
18,283,299 (GRCm39) |
missense |
|
|
|
R8960:Vmn2r124
|
UTSW |
17 |
18,283,291 (GRCm39) |
nonsense |
probably null |
|
|
R8970:Vmn2r124
|
UTSW |
17 |
18,294,439 (GRCm39) |
missense |
probably benign |
|
|
R9128:Vmn2r124
|
UTSW |
17 |
18,294,439 (GRCm39) |
missense |
probably benign |
|
|
R9566:Vmn2r124
|
UTSW |
17 |
18,293,581 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9680:Vmn2r124
|
UTSW |
17 |
18,293,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAATGATTAGTGTGATAGACTGAGTC -3'
(R):5'- TGGCTACACACTCTAAGTCATAAG -3'
Sequencing Primer
(F):5'- AGTGTGATAGACTGAGTCATCAAC -3'
(R):5'- ACACACTCTAAGTCATAAGAGTTCTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation