Incidental Mutation 'R8394:Or52z13'
| ID |
647530 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or52z13
|
| Ensembl Gene |
ENSMUSG00000073945 |
| Gene Name |
olfactory receptor family 52 subfamily Z member 13 |
| Synonyms |
MOR31-9, GA_x6K02T2PBJ9-6320148-6321104, Olfr618 |
| MMRRC Submission |
067758-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R8394 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
103246525-103247481 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 103247404 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 294
(I294F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151147
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098197]
[ENSMUST00000214883]
[ENSMUST00000215732]
|
| AlphaFold |
K7N6B3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098197
AA Change: I294F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000095799
Gene: ENSMUSG00000073945
AA Change: I294F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
34 |
314 |
3.1e-109 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
38 |
311 |
6.3e-12 |
PFAM |
|
Pfam:7tm_1
|
44 |
296 |
8.2e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214883
AA Change: I294F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215732
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| 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 |
|---|
| 1700129C05Rik |
T |
C |
14: 59,379,623 (GRCm39) |
N137S |
probably benign |
Het |
| 4930505A04Rik |
T |
A |
11: 30,404,880 (GRCm39) |
|
probably null |
Het |
| Abcc8 |
A |
G |
7: 45,803,977 (GRCm39) |
I399T |
probably benign |
Het |
| Aldh3b2 |
A |
C |
19: 4,029,461 (GRCm39) |
Q278P |
probably benign |
Het |
| Arl8b |
A |
G |
6: 108,760,244 (GRCm39) |
D10G |
possibly damaging |
Het |
| Baiap3 |
T |
C |
17: 25,469,096 (GRCm39) |
N229S |
probably benign |
Het |
| Chrdl2 |
T |
C |
7: 99,666,292 (GRCm39) |
S71P |
possibly damaging |
Het |
| Cmbl |
A |
G |
15: 31,585,541 (GRCm39) |
M142V |
possibly damaging |
Het |
| Cpt1b |
A |
G |
15: 89,306,490 (GRCm39) |
|
probably null |
Het |
| Crybg3 |
T |
C |
16: 59,378,651 (GRCm39) |
K868E |
probably benign |
Het |
| Efl1 |
A |
G |
7: 82,411,986 (GRCm39) |
I792V |
probably benign |
Het |
| Evx2 |
A |
G |
2: 74,486,321 (GRCm39) |
L356S |
probably benign |
Het |
| Hspa14 |
C |
T |
2: 3,513,670 (GRCm39) |
|
probably null |
Het |
| Ighv5-8 |
C |
T |
12: 113,618,813 (GRCm39) |
A76V |
unknown |
Het |
| Il7r |
A |
G |
15: 9,516,504 (GRCm39) |
F99S |
probably damaging |
Het |
| Klra2 |
A |
T |
6: 131,222,273 (GRCm39) |
V6D |
possibly damaging |
Het |
| Lce3c |
T |
C |
3: 92,852,760 (GRCm39) |
S74P |
unknown |
Het |
| Nectin2 |
C |
T |
7: 19,467,137 (GRCm39) |
|
probably null |
Het |
| Nfil3 |
A |
G |
13: 53,121,849 (GRCm39) |
S352P |
probably benign |
Het |
| Nme6 |
T |
A |
9: 109,664,394 (GRCm39) |
M1K |
probably null |
Het |
| Otogl |
A |
G |
10: 107,722,326 (GRCm39) |
|
probably null |
Het |
| Plcb1 |
T |
C |
2: 135,159,710 (GRCm39) |
V391A |
probably damaging |
Het |
| Ptf1a |
T |
A |
2: 19,450,746 (GRCm39) |
D25E |
probably damaging |
Het |
| Ralbp1 |
C |
T |
17: 66,159,748 (GRCm39) |
R505H |
probably benign |
Het |
| Scube1 |
T |
C |
15: 83,492,492 (GRCm39) |
Y944C |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,729,542 (GRCm39) |
I1039T |
probably benign |
Het |
| Senp7 |
G |
T |
16: 55,990,190 (GRCm39) |
W646L |
possibly damaging |
Het |
| Sphkap |
A |
T |
1: 83,253,797 (GRCm39) |
N1317K |
probably benign |
Het |
| Strc |
G |
T |
2: 121,209,490 (GRCm39) |
Q278K |
probably benign |
Het |
| Tbc1d30 |
T |
A |
10: 121,183,013 (GRCm39) |
R142* |
probably null |
Het |
| Tmtc3 |
T |
C |
10: 100,282,808 (GRCm39) |
I916V |
probably damaging |
Het |
| Tomm40l |
A |
T |
1: 171,048,776 (GRCm39) |
H79Q |
probably damaging |
Het |
| Txndc12 |
T |
A |
4: 108,713,420 (GRCm39) |
|
probably null |
Het |
| Vmn2r2 |
T |
C |
3: 64,044,858 (GRCm39) |
N96S |
probably damaging |
Het |
| Vmn2r27 |
T |
C |
6: 124,168,776 (GRCm39) |
T785A |
possibly damaging |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
| Zfp462 |
A |
G |
4: 55,011,862 (GRCm39) |
D1276G |
probably damaging |
Het |
|
| Other mutations in Or52z13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00926:Or52z13
|
APN |
7 |
103,247,369 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL00963:Or52z13
|
APN |
7 |
103,246,844 (GRCm39) |
splice site |
probably null |
|
|
IGL01772:Or52z13
|
APN |
7 |
103,247,120 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02014:Or52z13
|
APN |
7 |
103,246,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03409:Or52z13
|
APN |
7 |
103,246,574 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0087:Or52z13
|
UTSW |
7 |
103,246,928 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0831:Or52z13
|
UTSW |
7 |
103,247,338 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1779:Or52z13
|
UTSW |
7 |
103,247,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1909:Or52z13
|
UTSW |
7 |
103,246,550 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5903:Or52z13
|
UTSW |
7 |
103,247,128 (GRCm39) |
nonsense |
probably null |
|
|
R5952:Or52z13
|
UTSW |
7 |
103,247,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6328:Or52z13
|
UTSW |
7 |
103,247,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7264:Or52z13
|
UTSW |
7 |
103,246,955 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7573:Or52z13
|
UTSW |
7 |
103,246,735 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7870:Or52z13
|
UTSW |
7 |
103,247,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8833:Or52z13
|
UTSW |
7 |
103,247,444 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9563:Or52z13
|
UTSW |
7 |
103,247,225 (GRCm39) |
missense |
probably benign |
|
|
R9601:Or52z13
|
UTSW |
7 |
103,246,598 (GRCm39) |
missense |
probably benign |
0.20 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGGCTCTGGGTACATGTG -3'
(R):5'- GGAACAGATATTAAGCCATCCTCAG -3'
Sequencing Primer
(F):5'- GGTACATGTGGCTCCCATGTC -3'
(R):5'- CCCTTTGACTACAAAATGACTGTC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation