Incidental Mutation 'R6929:Or52z12'
| ID |
539901 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or52z12
|
| Ensembl Gene |
ENSMUSG00000073946 |
| Gene Name |
olfactory receptor family 52 subfamily Z member 12 |
| Synonyms |
GA_x6K02T2PBJ9-6306819-6307775, Olfr617, MOR31-10 |
| MMRRC Submission |
045007-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R6929 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
103233231-103234187 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 103233651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 141
(I141F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149045
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048265]
[ENSMUST00000215755]
[ENSMUST00000216516]
|
| AlphaFold |
Q8VGA1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048265
AA Change: I141F
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000040319
Gene: ENSMUSG00000073946
AA Change: I141F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
37 |
316 |
8.5e-109 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
41 |
225 |
2.3e-10 |
PFAM |
|
Pfam:7tm_1
|
47 |
299 |
4.6e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215755
AA Change: I141F
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216516
AA Change: I141F
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.4%
|
| Validation Efficiency |
92% (35/38) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
A |
T |
2: 26,896,275 (GRCm39) |
R1223* |
probably null |
Het |
| Adgrb3 |
A |
T |
1: 25,150,852 (GRCm39) |
L1127* |
probably null |
Het |
| Ankrd17 |
A |
T |
5: 90,433,384 (GRCm39) |
V727D |
possibly damaging |
Het |
| Ankub1 |
A |
T |
3: 57,572,854 (GRCm39) |
C289* |
probably null |
Het |
| C2 |
T |
A |
17: 35,083,323 (GRCm39) |
I242F |
possibly damaging |
Het |
| C2cd3 |
T |
C |
7: 100,100,826 (GRCm39) |
L653P |
probably damaging |
Het |
| Cacna1b |
A |
G |
2: 24,522,022 (GRCm39) |
V1696A |
probably damaging |
Het |
| Cep295 |
A |
G |
9: 15,244,358 (GRCm39) |
I1366T |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,769,573 (GRCm39) |
L2553P |
probably damaging |
Het |
| Cited4 |
C |
A |
4: 120,524,244 (GRCm39) |
T82K |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,021,756 (GRCm39) |
M3470K |
probably damaging |
Het |
| Exosc3 |
G |
T |
4: 45,320,482 (GRCm39) |
P37Q |
probably damaging |
Het |
| Fam120b |
C |
A |
17: 15,643,290 (GRCm39) |
Q690K |
possibly damaging |
Het |
| Fyb1 |
T |
C |
15: 6,668,388 (GRCm39) |
I527T |
probably damaging |
Het |
| Gm32742 |
A |
G |
9: 51,065,579 (GRCm39) |
L459P |
probably benign |
Het |
| Gm45861 |
A |
G |
8: 28,014,462 (GRCm39) |
D655G |
unknown |
Het |
| Ifi203 |
A |
G |
1: 173,756,340 (GRCm39) |
|
probably benign |
Het |
| Ifnar2 |
T |
A |
16: 91,190,766 (GRCm39) |
L93* |
probably null |
Het |
| Kdr |
A |
G |
5: 76,138,764 (GRCm39) |
V22A |
probably benign |
Het |
| Llgl1 |
C |
T |
11: 60,601,179 (GRCm39) |
Q706* |
probably null |
Het |
| Lrrc9 |
A |
T |
12: 72,497,546 (GRCm39) |
K121N |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,917,909 (GRCm39) |
F3323S |
probably damaging |
Het |
| Mc4r |
A |
G |
18: 66,992,253 (GRCm39) |
Y287H |
probably damaging |
Het |
| Nlrp4e |
A |
C |
7: 23,036,156 (GRCm39) |
|
probably null |
Het |
| Or8b42 |
A |
G |
9: 38,342,444 (GRCm39) |
I289V |
probably benign |
Het |
| Pear1 |
T |
A |
3: 87,666,872 (GRCm39) |
K38* |
probably null |
Het |
| Pik3c2g |
G |
A |
6: 139,903,502 (GRCm39) |
R585Q |
possibly damaging |
Het |
| Prpf40a |
A |
G |
2: 53,034,875 (GRCm39) |
V771A |
possibly damaging |
Het |
| Rnd3 |
G |
T |
2: 51,027,187 (GRCm39) |
D103E |
probably damaging |
Het |
| Sfpq |
GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC |
GCCGCCGCAGCAGCC |
4: 126,915,419 (GRCm39) |
|
probably benign |
Het |
| Spats2l |
A |
T |
1: 57,918,695 (GRCm39) |
N43I |
probably damaging |
Het |
| Tmem202 |
C |
A |
9: 59,426,504 (GRCm39) |
G221C |
probably benign |
Het |
| Ubiad1 |
T |
C |
4: 148,528,579 (GRCm39) |
D110G |
probably damaging |
Het |
| Ulk4 |
A |
T |
9: 120,903,081 (GRCm39) |
V1132D |
probably benign |
Het |
| Vmn2r118 |
C |
T |
17: 55,917,440 (GRCm39) |
M357I |
probably benign |
Het |
| Zfp663 |
G |
C |
2: 165,195,178 (GRCm39) |
P347R |
probably benign |
Het |
|
| Other mutations in Or52z12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01306:Or52z12
|
APN |
7 |
103,233,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01355:Or52z12
|
APN |
7 |
103,233,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01411:Or52z12
|
APN |
7 |
103,233,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01412:Or52z12
|
APN |
7 |
103,234,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02379:Or52z12
|
APN |
7 |
103,234,099 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
ANU23:Or52z12
|
UTSW |
7 |
103,233,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03054:Or52z12
|
UTSW |
7 |
103,234,047 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0536:Or52z12
|
UTSW |
7 |
103,233,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4222:Or52z12
|
UTSW |
7 |
103,233,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4224:Or52z12
|
UTSW |
7 |
103,233,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5342:Or52z12
|
UTSW |
7 |
103,234,035 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5587:Or52z12
|
UTSW |
7 |
103,233,738 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5607:Or52z12
|
UTSW |
7 |
103,233,506 (GRCm39) |
nonsense |
probably null |
|
|
R5608:Or52z12
|
UTSW |
7 |
103,233,506 (GRCm39) |
nonsense |
probably null |
|
|
R6904:Or52z12
|
UTSW |
7 |
103,233,727 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7399:Or52z12
|
UTSW |
7 |
103,233,588 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7607:Or52z12
|
UTSW |
7 |
103,234,137 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7771:Or52z12
|
UTSW |
7 |
103,233,297 (GRCm39) |
missense |
probably benign |
0.33 |
|
Z1177:Or52z12
|
UTSW |
7 |
103,234,154 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Or52z12
|
UTSW |
7 |
103,233,906 (GRCm39) |
missense |
probably benign |
0.41 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGTCTATGTTGGCACTCG -3'
(R):5'- ATTGACCTTGATGCTGTCACAGG -3'
Sequencing Primer
(F):5'- ATGTTGGCACTCGCTGATATC -3'
(R):5'- TTGATGCTGTCACAGGCCAAC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation