Incidental Mutation 'R4452:Or52i2'
| ID |
329008 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or52i2
|
| Ensembl Gene |
ENSMUSG00000073969 |
| Gene Name |
olfactory receptor family 52 subfamily J member 2 |
| Synonyms |
GA_x6K02T2PBJ9-5386601-5387575, MOR41-1, Olfr556 |
| MMRRC Submission |
041713-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.191)
|
| Stock # |
R4452 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
102319108-102320130 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102319256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 43
(V43A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150289
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098219]
[ENSMUST00000213485]
[ENSMUST00000217526]
|
| AlphaFold |
E9Q549 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098219
AA Change: V43A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000095822
Gene: ENSMUSG00000073969
AA Change: V43A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
35 |
315 |
1.2e-85 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
39 |
192 |
1.5e-13 |
PFAM |
|
Pfam:7tm_1
|
45 |
297 |
3.2e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213485
AA Change: V43A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217526
AA Change: V43A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
98% (48/49) |
| MGI Phenotype |
FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
A |
G |
7: 119,297,797 (GRCm39) |
T145A |
possibly damaging |
Het |
| Adgra1 |
G |
T |
7: 139,432,437 (GRCm39) |
A92S |
probably benign |
Het |
| Aim2 |
A |
G |
1: 173,283,010 (GRCm39) |
T31A |
possibly damaging |
Het |
| Cd46 |
G |
A |
1: 194,767,668 (GRCm39) |
A131V |
possibly damaging |
Het |
| Cdc27 |
A |
T |
11: 104,408,221 (GRCm39) |
M563K |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,704,308 (GRCm39) |
N721I |
probably damaging |
Het |
| Cnn2 |
A |
G |
10: 79,827,276 (GRCm39) |
D49G |
probably benign |
Het |
| Cul1 |
T |
A |
6: 47,485,923 (GRCm39) |
Y323* |
probably null |
Het |
| D5Ertd579e |
A |
G |
5: 36,773,814 (GRCm39) |
W194R |
probably damaging |
Het |
| Dhx15 |
G |
A |
5: 52,324,074 (GRCm39) |
P406L |
probably benign |
Het |
| Dnah9 |
C |
T |
11: 65,917,908 (GRCm39) |
A2249T |
probably damaging |
Het |
| Dppa4 |
T |
A |
16: 48,109,699 (GRCm39) |
D106E |
probably benign |
Het |
| Gja10 |
A |
G |
4: 32,601,313 (GRCm39) |
V357A |
probably benign |
Het |
| Gm20481 |
T |
G |
17: 35,191,109 (GRCm39) |
|
probably benign |
Het |
| Grxcr2 |
T |
C |
18: 42,119,609 (GRCm39) |
N244D |
probably damaging |
Het |
| Klk1b11 |
T |
A |
7: 43,645,335 (GRCm39) |
F3I |
probably damaging |
Het |
| Mid1 |
T |
C |
X: 168,710,421 (GRCm39) |
V139A |
possibly damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,393,094 (GRCm39) |
K3046E |
probably damaging |
Het |
| Nfasc |
T |
C |
1: 132,562,409 (GRCm39) |
N122S |
probably damaging |
Het |
| Or11j4 |
A |
T |
14: 50,630,369 (GRCm39) |
Y52F |
probably benign |
Het |
| Or4c124 |
T |
A |
2: 89,155,597 (GRCm39) |
D309V |
possibly damaging |
Het |
| Or52ac1 |
T |
A |
7: 104,245,846 (GRCm39) |
M181L |
probably damaging |
Het |
| Or8d1b |
T |
C |
9: 38,887,382 (GRCm39) |
S137P |
probably benign |
Het |
| Or8h9 |
C |
T |
2: 86,789,043 (GRCm39) |
G253D |
probably damaging |
Het |
| P2ry10b |
C |
T |
X: 106,214,724 (GRCm39) |
T28I |
probably damaging |
Het |
| Pdxdc1 |
T |
C |
16: 13,654,990 (GRCm39) |
Y675C |
possibly damaging |
Het |
| Plcl1 |
A |
G |
1: 55,736,045 (GRCm39) |
N462S |
probably benign |
Het |
| Ptf1a |
G |
T |
2: 19,451,092 (GRCm39) |
A141S |
possibly damaging |
Het |
| Pzp |
A |
G |
6: 128,468,203 (GRCm39) |
L1028P |
probably damaging |
Het |
| Qrsl1 |
A |
G |
10: 43,758,158 (GRCm39) |
S312P |
probably damaging |
Het |
| Sars2 |
A |
G |
7: 28,449,518 (GRCm39) |
T349A |
probably benign |
Het |
| Scarb1 |
A |
T |
5: 125,377,409 (GRCm39) |
F208I |
probably damaging |
Het |
| Scn8a |
A |
G |
15: 100,854,972 (GRCm39) |
N153S |
possibly damaging |
Het |
| Sema4c |
A |
T |
1: 36,592,837 (GRCm39) |
V127D |
probably benign |
Het |
| Smg6 |
C |
G |
11: 74,880,967 (GRCm39) |
S931C |
probably benign |
Het |
| Trpm2 |
A |
T |
10: 77,759,427 (GRCm39) |
L1119Q |
probably damaging |
Het |
| Ubtd2 |
T |
A |
11: 32,449,406 (GRCm39) |
N84K |
probably damaging |
Het |
| Ugt2b35 |
A |
T |
5: 87,151,237 (GRCm39) |
H281L |
probably damaging |
Het |
| Umodl1 |
T |
C |
17: 31,213,789 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Or52i2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01288:Or52i2
|
APN |
7 |
102,319,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01662:Or52i2
|
APN |
7 |
102,319,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02989:Or52i2
|
APN |
7 |
102,319,651 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0194:Or52i2
|
UTSW |
7 |
102,319,406 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1670:Or52i2
|
UTSW |
7 |
102,319,609 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1680:Or52i2
|
UTSW |
7 |
102,319,940 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1711:Or52i2
|
UTSW |
7 |
102,319,369 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1768:Or52i2
|
UTSW |
7 |
102,319,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1950:Or52i2
|
UTSW |
7 |
102,319,684 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5564:Or52i2
|
UTSW |
7 |
102,319,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6623:Or52i2
|
UTSW |
7 |
102,319,241 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7040:Or52i2
|
UTSW |
7 |
102,319,937 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7244:Or52i2
|
UTSW |
7 |
102,319,046 (GRCm39) |
start gained |
probably benign |
|
|
R7300:Or52i2
|
UTSW |
7 |
102,319,417 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8499:Or52i2
|
UTSW |
7 |
102,320,012 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9620:Or52i2
|
UTSW |
7 |
102,320,011 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9694:Or52i2
|
UTSW |
7 |
102,320,011 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGAGAGATCACTACTGGCAG -3'
(R):5'- AGTACATCTGAGTGAAACAGGC -3'
Sequencing Primer
(F):5'- GGTCATGAAAAATACCACCAAGATG -3'
(R):5'- CATCTGAGTGAAACAGGCATTAAAGC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation