Incidental Mutation 'R4375:Or52ae7'
ID |
325071 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or52ae7
|
Ensembl Gene |
ENSMUSG00000073948 |
Gene Name |
olfactory receptor family 52 subfamily AE member 7 |
Synonyms |
MOR26-3, GA_x6K02T2PBJ9-6191595-6192545, Olfr608 |
MMRRC Submission |
041119-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
R4375 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
103119248-103120198 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 103119278 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 11
(S11P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150595
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000213546]
|
AlphaFold |
E9Q564 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098199
AA Change: S11P
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000095801 Gene: ENSMUSG00000073948 AA Change: S11P
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
32 |
311 |
4.7e-101 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
36 |
308 |
7.1e-8 |
PFAM |
Pfam:7tm_1
|
42 |
293 |
6.4e-16 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000213546
AA Change: S11P
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (37/37) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adhfe1 |
A |
T |
1: 9,631,853 (GRCm39) |
|
probably benign |
Het |
Cd209c |
T |
C |
8: 4,004,635 (GRCm39) |
|
noncoding transcript |
Het |
Cntnap1 |
A |
G |
11: 101,073,079 (GRCm39) |
D561G |
probably damaging |
Het |
Csf1 |
T |
A |
3: 107,664,055 (GRCm39) |
T38S |
probably damaging |
Het |
Cyp4b1 |
T |
C |
4: 115,493,510 (GRCm39) |
T191A |
probably benign |
Het |
Dapk1 |
A |
T |
13: 60,909,403 (GRCm39) |
M1339L |
probably benign |
Het |
Dpm3 |
T |
C |
3: 89,174,215 (GRCm39) |
Y59H |
probably damaging |
Het |
Eif2ak4 |
A |
G |
2: 118,258,405 (GRCm39) |
Y585C |
probably damaging |
Het |
Ercc1 |
G |
A |
7: 19,081,057 (GRCm39) |
|
probably benign |
Het |
Fam184b |
T |
C |
5: 45,699,685 (GRCm39) |
D577G |
probably benign |
Het |
Gon4l |
C |
A |
3: 88,814,694 (GRCm39) |
P1888T |
probably benign |
Het |
Hsf2bp |
C |
T |
17: 32,206,322 (GRCm39) |
D270N |
probably null |
Het |
Lactbl1 |
T |
C |
4: 136,364,902 (GRCm39) |
V418A |
possibly damaging |
Het |
Lifr |
A |
T |
15: 7,196,379 (GRCm39) |
M188L |
probably benign |
Het |
Ltbp1 |
G |
T |
17: 75,619,992 (GRCm39) |
G760V |
probably damaging |
Het |
Marchf11 |
A |
G |
15: 26,309,532 (GRCm39) |
E62G |
probably damaging |
Het |
Nlrp12 |
A |
G |
7: 3,289,576 (GRCm39) |
L312P |
possibly damaging |
Het |
Or1l4 |
T |
A |
2: 37,091,574 (GRCm39) |
M107K |
probably benign |
Het |
Or8c20 |
T |
C |
9: 38,260,465 (GRCm39) |
F23L |
probably benign |
Het |
Pcdh17 |
T |
C |
14: 84,685,711 (GRCm39) |
V726A |
possibly damaging |
Het |
Pdia4 |
G |
A |
6: 47,775,326 (GRCm39) |
R495W |
probably damaging |
Het |
Phf20l1 |
T |
C |
15: 66,487,071 (GRCm39) |
S369P |
probably benign |
Het |
Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
Prcc |
A |
G |
3: 87,774,714 (GRCm39) |
Y363H |
probably damaging |
Het |
Proser3 |
A |
G |
7: 30,240,096 (GRCm39) |
V336A |
possibly damaging |
Het |
Rbbp8 |
C |
T |
18: 11,858,467 (GRCm39) |
T646M |
probably benign |
Het |
Rgs1 |
T |
C |
1: 144,123,644 (GRCm39) |
T94A |
probably benign |
Het |
Rpl11 |
G |
A |
4: 135,778,454 (GRCm39) |
|
probably benign |
Het |
Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
Snx9 |
G |
A |
17: 5,958,901 (GRCm39) |
W292* |
probably null |
Het |
St14 |
T |
C |
9: 31,001,754 (GRCm39) |
I784V |
probably benign |
Het |
Steep1 |
C |
A |
X: 36,087,812 (GRCm39) |
C206F |
probably benign |
Het |
Strc |
A |
G |
2: 121,211,304 (GRCm39) |
S14P |
unknown |
Het |
Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
Ubap1 |
G |
A |
4: 41,371,850 (GRCm39) |
|
probably null |
Het |
Zfr |
T |
C |
15: 12,118,426 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Or52ae7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01735:Or52ae7
|
APN |
7 |
103,119,530 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02428:Or52ae7
|
APN |
7 |
103,119,590 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02832:Or52ae7
|
APN |
7 |
103,119,905 (GRCm39) |
missense |
probably benign |
0.00 |
R0546:Or52ae7
|
UTSW |
7 |
103,119,907 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1518:Or52ae7
|
UTSW |
7 |
103,119,249 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
R1696:Or52ae7
|
UTSW |
7 |
103,119,384 (GRCm39) |
missense |
probably benign |
0.18 |
R1735:Or52ae7
|
UTSW |
7 |
103,119,353 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2927:Or52ae7
|
UTSW |
7 |
103,120,089 (GRCm39) |
missense |
probably damaging |
1.00 |
R3856:Or52ae7
|
UTSW |
7 |
103,119,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R4374:Or52ae7
|
UTSW |
7 |
103,119,278 (GRCm39) |
missense |
probably damaging |
0.97 |
R4377:Or52ae7
|
UTSW |
7 |
103,119,278 (GRCm39) |
missense |
probably damaging |
0.97 |
R5059:Or52ae7
|
UTSW |
7 |
103,119,488 (GRCm39) |
nonsense |
probably null |
|
R5174:Or52ae7
|
UTSW |
7 |
103,119,610 (GRCm39) |
missense |
probably benign |
0.14 |
R5579:Or52ae7
|
UTSW |
7 |
103,120,121 (GRCm39) |
missense |
probably damaging |
1.00 |
R6762:Or52ae7
|
UTSW |
7 |
103,119,596 (GRCm39) |
missense |
probably benign |
0.02 |
R7888:Or52ae7
|
UTSW |
7 |
103,120,006 (GRCm39) |
nonsense |
probably null |
|
R7980:Or52ae7
|
UTSW |
7 |
103,119,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R8150:Or52ae7
|
UTSW |
7 |
103,119,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R8966:Or52ae7
|
UTSW |
7 |
103,119,524 (GRCm39) |
missense |
probably benign |
0.07 |
R9369:Or52ae7
|
UTSW |
7 |
103,119,555 (GRCm39) |
missense |
probably benign |
0.14 |
R9683:Or52ae7
|
UTSW |
7 |
103,119,157 (GRCm39) |
start gained |
probably benign |
|
R9713:Or52ae7
|
UTSW |
7 |
103,119,914 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGCTGCACAGGATGACATTTTG -3'
(R):5'- AGCATTTTCAGGGACGTGGAAC -3'
Sequencing Primer
(F):5'- CTGCACAGGATGACATTTTGGAAAC -3'
(R):5'- GAATGTCATTCATTGCCAACATGC -3'
|
Posted On |
2015-07-06 |