Incidental Mutation 'R5113:Vmn1r28'
| ID |
394013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r28
|
| Ensembl Gene |
ENSMUSG00000115705 |
| Gene Name |
vomeronasal 1 receptor 28 |
| Synonyms |
V1rc25 |
| MMRRC Submission |
042701-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R5113 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
58239279-58243645 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58242843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 229
(T229A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153785
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000176874]
[ENSMUST00000226813]
[ENSMUST00000227805]
[ENSMUST00000228678]
|
| AlphaFold |
Q8R2C9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176874
AA Change: T229A
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000135311
Gene: ENSMUSG00000094291
AA Change: T229A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
28 |
293 |
8.4e-59 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226813
AA Change: T229A
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227805
AA Change: T229A
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228678
AA Change: T229A
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox12e |
A |
G |
11: 70,206,821 (GRCm39) |
V622A |
possibly damaging |
Het |
| Ankef1 |
A |
G |
2: 136,394,361 (GRCm39) |
N590S |
probably benign |
Het |
| Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
| Ano3 |
A |
T |
2: 110,491,825 (GRCm39) |
N867K |
possibly damaging |
Het |
| Ash1l |
T |
C |
3: 88,973,582 (GRCm39) |
V2547A |
probably damaging |
Het |
| Chil5 |
A |
T |
3: 105,925,294 (GRCm39) |
V209E |
possibly damaging |
Het |
| Cltc |
A |
T |
11: 86,613,147 (GRCm39) |
C459S |
probably damaging |
Het |
| Col6a4 |
T |
A |
9: 105,944,159 (GRCm39) |
D1105V |
possibly damaging |
Het |
| Cyp2c66 |
A |
G |
19: 39,151,882 (GRCm39) |
D199G |
probably benign |
Het |
| Cyp4f18 |
A |
G |
8: 72,742,902 (GRCm39) |
|
probably null |
Het |
| Cysrt1 |
A |
T |
2: 25,129,363 (GRCm39) |
C50S |
possibly damaging |
Het |
| Dapk1 |
A |
G |
13: 60,869,592 (GRCm39) |
K278R |
probably benign |
Het |
| Eefsec |
C |
A |
6: 88,258,557 (GRCm39) |
S512I |
probably damaging |
Het |
| Emilin1 |
T |
C |
5: 31,077,964 (GRCm39) |
F908L |
possibly damaging |
Het |
| Eml1 |
T |
C |
12: 108,503,596 (GRCm39) |
V731A |
possibly damaging |
Het |
| Erc2 |
T |
C |
14: 27,374,829 (GRCm39) |
S16P |
probably benign |
Het |
| Gfpt2 |
A |
G |
11: 49,714,626 (GRCm39) |
R342G |
probably damaging |
Het |
| Gpr142 |
A |
T |
11: 114,695,143 (GRCm39) |
Q36L |
probably benign |
Het |
| Grik5 |
A |
G |
7: 24,714,952 (GRCm39) |
S681P |
probably damaging |
Het |
| Hecw1 |
A |
T |
13: 14,520,614 (GRCm39) |
S208T |
possibly damaging |
Het |
| Hmgcr |
G |
A |
13: 96,793,240 (GRCm39) |
A464V |
probably benign |
Het |
| Igkv2-109 |
A |
G |
6: 68,280,069 (GRCm39) |
T97A |
possibly damaging |
Het |
| Ino80 |
G |
T |
2: 119,262,426 (GRCm39) |
Q687K |
probably damaging |
Het |
| Kdm4d |
T |
C |
9: 14,375,409 (GRCm39) |
N150D |
probably damaging |
Het |
| Klf4 |
A |
G |
4: 55,530,481 (GRCm39) |
I210T |
possibly damaging |
Het |
| Klkb1 |
C |
A |
8: 45,723,734 (GRCm39) |
Q560H |
probably benign |
Het |
| Lce1a2 |
A |
T |
3: 92,576,442 (GRCm39) |
V40E |
unknown |
Het |
| Maob |
T |
C |
X: 16,582,662 (GRCm39) |
T400A |
probably benign |
Het |
| Mipol1 |
C |
T |
12: 57,543,285 (GRCm39) |
T393I |
probably benign |
Het |
| Mst1 |
A |
G |
9: 107,959,446 (GRCm39) |
D244G |
probably damaging |
Het |
| Nexn |
G |
A |
3: 151,949,525 (GRCm39) |
R258C |
probably damaging |
Het |
| Optc |
T |
C |
1: 133,828,715 (GRCm39) |
|
probably benign |
Het |
| Or10d5 |
T |
C |
9: 39,861,221 (GRCm39) |
N282S |
probably damaging |
Het |
| Or11h23 |
A |
C |
14: 50,948,371 (GRCm39) |
I195L |
probably benign |
Het |
| Or6c207 |
A |
G |
10: 129,104,535 (GRCm39) |
I219T |
probably damaging |
Het |
| Or7a37 |
A |
G |
10: 78,806,037 (GRCm39) |
I185V |
probably benign |
Het |
| Pabpc2 |
C |
A |
18: 39,908,436 (GRCm39) |
P567Q |
probably benign |
Het |
| Pierce2 |
T |
A |
9: 72,887,175 (GRCm39) |
R111* |
probably null |
Het |
| Ppm1j |
A |
G |
3: 104,691,990 (GRCm39) |
H324R |
possibly damaging |
Het |
| Reg3g |
A |
T |
6: 78,443,544 (GRCm39) |
|
probably null |
Het |
| Sipa1l1 |
C |
T |
12: 82,487,682 (GRCm39) |
A1652V |
probably benign |
Het |
| Ski |
T |
C |
4: 155,243,849 (GRCm39) |
T554A |
probably benign |
Het |
| Slfn5 |
G |
A |
11: 82,852,522 (GRCm39) |
V883M |
probably benign |
Het |
| Stradb |
T |
C |
1: 59,030,333 (GRCm39) |
|
probably benign |
Het |
| Tex19.1 |
A |
G |
11: 121,038,625 (GRCm39) |
T328A |
probably benign |
Het |
| Tpsab1 |
T |
C |
17: 25,564,373 (GRCm39) |
N27S |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,643,244 (GRCm39) |
L13225Q |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,446,711 (GRCm39) |
K600E |
probably damaging |
Het |
| Zfp217 |
T |
C |
2: 169,955,978 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Vmn1r28 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01365:Vmn1r28
|
APN |
6 |
58,242,176 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL01712:Vmn1r28
|
APN |
6 |
58,242,393 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01788:Vmn1r28
|
APN |
6 |
58,242,522 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02629:Vmn1r28
|
APN |
6 |
58,242,801 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0001:Vmn1r28
|
UTSW |
6 |
58,242,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0009:Vmn1r28
|
UTSW |
6 |
58,242,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0040:Vmn1r28
|
UTSW |
6 |
58,242,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0078:Vmn1r28
|
UTSW |
6 |
58,242,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0079:Vmn1r28
|
UTSW |
6 |
58,242,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0081:Vmn1r28
|
UTSW |
6 |
58,242,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0164:Vmn1r28
|
UTSW |
6 |
58,242,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0164:Vmn1r28
|
UTSW |
6 |
58,242,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0165:Vmn1r28
|
UTSW |
6 |
58,242,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0166:Vmn1r28
|
UTSW |
6 |
58,242,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0167:Vmn1r28
|
UTSW |
6 |
58,242,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0172:Vmn1r28
|
UTSW |
6 |
58,242,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0173:Vmn1r28
|
UTSW |
6 |
58,242,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0284:Vmn1r28
|
UTSW |
6 |
58,242,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0288:Vmn1r28
|
UTSW |
6 |
58,242,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0704:Vmn1r28
|
UTSW |
6 |
58,242,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1143:Vmn1r28
|
UTSW |
6 |
58,242,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1225:Vmn1r28
|
UTSW |
6 |
58,242,951 (GRCm39) |
nonsense |
probably null |
|
|
R1464:Vmn1r28
|
UTSW |
6 |
58,242,217 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1464:Vmn1r28
|
UTSW |
6 |
58,242,217 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1836:Vmn1r28
|
UTSW |
6 |
58,242,237 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1882:Vmn1r28
|
UTSW |
6 |
58,242,963 (GRCm39) |
missense |
probably benign |
|
|
R1905:Vmn1r28
|
UTSW |
6 |
58,242,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4912:Vmn1r28
|
UTSW |
6 |
58,242,525 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5071:Vmn1r28
|
UTSW |
6 |
58,242,894 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5261:Vmn1r28
|
UTSW |
6 |
58,242,524 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5265:Vmn1r28
|
UTSW |
6 |
58,242,949 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5839:Vmn1r28
|
UTSW |
6 |
58,242,280 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6180:Vmn1r28
|
UTSW |
6 |
58,242,476 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6643:Vmn1r28
|
UTSW |
6 |
58,242,945 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6884:Vmn1r28
|
UTSW |
6 |
58,242,633 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7393:Vmn1r28
|
UTSW |
6 |
58,242,574 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7471:Vmn1r28
|
UTSW |
6 |
58,242,850 (GRCm39) |
nonsense |
probably null |
|
|
R7738:Vmn1r28
|
UTSW |
6 |
58,243,039 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7961:Vmn1r28
|
UTSW |
6 |
58,242,178 (GRCm39) |
missense |
probably benign |
|
|
R8009:Vmn1r28
|
UTSW |
6 |
58,242,178 (GRCm39) |
missense |
probably benign |
|
|
R8156:Vmn1r28
|
UTSW |
6 |
58,242,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8167:Vmn1r28
|
UTSW |
6 |
58,243,052 (GRCm39) |
missense |
noncoding transcript |
|
|
R8879:Vmn1r28
|
UTSW |
6 |
58,242,669 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9639:Vmn1r28
|
UTSW |
6 |
58,242,996 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAACTACATCATCAGGGGATCG -3'
(R):5'- AAATCTGGTGGAACTTGGAGTG -3'
Sequencing Primer
(F):5'- CATCAGGGGATCGATTTTAACAGTG -3'
(R):5'- AACTTGGAGTGCATGTTTTTCAG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation