Incidental Mutation 'R5599:Or7g29'
ID |
438947 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or7g29
|
Ensembl Gene |
ENSMUSG00000059821 |
Gene Name |
olfactory receptor family 7 subfamily G member 29 |
Synonyms |
Olfr847, GA_x6K02T2PVTD-13113073-13112135, MOR149-2 |
MMRRC Submission |
043151-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.132)
|
Stock # |
R5599 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
19286237-19287175 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 19286925 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Threonine
at position 84
(N84T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151112
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079620]
[ENSMUST00000216839]
|
AlphaFold |
Q8VFF4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079620
AA Change: N84T
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000078568 Gene: ENSMUSG00000059821 AA Change: N84T
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
31 |
308 |
1.9e-56 |
PFAM |
Pfam:7tm_1
|
41 |
290 |
2.1e-22 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212306
AA Change: N84T
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216839
AA Change: N84T
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd2 |
T |
A |
7: 78,946,746 (GRCm39) |
|
probably null |
Het |
Agpat3 |
T |
C |
10: 78,110,103 (GRCm39) |
D282G |
probably benign |
Het |
Ankhd1 |
G |
A |
18: 36,693,860 (GRCm39) |
A24T |
probably damaging |
Het |
Cracdl |
T |
C |
1: 37,652,424 (GRCm39) |
N1128D |
possibly damaging |
Het |
Cry1 |
A |
T |
10: 84,980,114 (GRCm39) |
M398K |
probably benign |
Het |
Dpp10 |
A |
G |
1: 123,832,803 (GRCm39) |
I47T |
probably damaging |
Het |
Fpr-rs6 |
C |
T |
17: 20,402,375 (GRCm39) |
D329N |
probably benign |
Het |
Gfm2 |
G |
A |
13: 97,299,659 (GRCm39) |
A406T |
probably damaging |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Gxylt1 |
CTCATCCGGGTCAT |
CTCAT |
15: 93,152,198 (GRCm39) |
|
probably benign |
Het |
Hnrnpul1 |
G |
A |
7: 25,454,097 (GRCm39) |
|
probably benign |
Het |
Lbx1 |
T |
A |
19: 45,223,519 (GRCm39) |
S50C |
probably damaging |
Het |
Lims2 |
A |
G |
18: 32,090,324 (GRCm39) |
N183S |
probably benign |
Het |
Lrp1 |
T |
C |
10: 127,429,738 (GRCm39) |
N444S |
probably damaging |
Het |
Mast4 |
A |
T |
13: 102,873,987 (GRCm39) |
C1626S |
probably damaging |
Het |
Mgat5 |
A |
G |
1: 127,325,303 (GRCm39) |
Y390C |
probably damaging |
Het |
Nf2 |
T |
C |
11: 4,732,269 (GRCm39) |
E553G |
probably damaging |
Het |
Nfatc4 |
A |
T |
14: 56,069,733 (GRCm39) |
T704S |
probably benign |
Het |
Or4c3d |
A |
G |
2: 89,882,563 (GRCm39) |
V35A |
probably benign |
Het |
Or56a3 |
T |
C |
7: 104,735,757 (GRCm39) |
|
probably null |
Het |
Or9m1b |
T |
G |
2: 87,836,349 (GRCm39) |
I258L |
probably benign |
Het |
Plekha7 |
T |
A |
7: 115,776,117 (GRCm39) |
|
probably null |
Het |
Polr1a |
T |
C |
6: 71,944,346 (GRCm39) |
M1271T |
possibly damaging |
Het |
Ppip5k2 |
A |
G |
1: 97,668,323 (GRCm39) |
M595T |
probably damaging |
Het |
Ppox |
A |
T |
1: 171,105,033 (GRCm39) |
V412D |
probably damaging |
Het |
Ppp1r12b |
A |
G |
1: 134,793,645 (GRCm39) |
V573A |
probably benign |
Het |
Prkcb |
T |
C |
7: 122,181,701 (GRCm39) |
Y430H |
probably benign |
Het |
Psmd6 |
A |
C |
14: 14,120,144 (GRCm38) |
M65R |
probably benign |
Het |
Rbm12 |
G |
A |
2: 155,938,713 (GRCm39) |
R520* |
probably null |
Het |
Rin3 |
T |
C |
12: 102,356,188 (GRCm39) |
F830L |
probably damaging |
Het |
Sema4b |
A |
G |
7: 79,863,039 (GRCm39) |
K104R |
probably benign |
Het |
Slitrk1 |
T |
C |
14: 109,149,244 (GRCm39) |
D489G |
probably benign |
Het |
Spef2 |
T |
C |
15: 9,729,789 (GRCm39) |
T110A |
possibly damaging |
Het |
Sult2a6 |
T |
A |
7: 13,988,629 (GRCm39) |
K44* |
probably null |
Het |
Tasor |
A |
G |
14: 27,201,886 (GRCm39) |
N1427D |
probably benign |
Het |
Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
Tcstv2c |
A |
C |
13: 120,616,458 (GRCm39) |
Q99P |
probably damaging |
Het |
Tnxb |
G |
T |
17: 34,909,176 (GRCm39) |
G1445V |
probably damaging |
Het |
Tnxb |
T |
C |
17: 34,909,179 (GRCm39) |
V1569A |
probably benign |
Het |
Zcchc2 |
A |
G |
1: 105,959,880 (GRCm39) |
D1163G |
probably damaging |
Het |
Zfp365 |
C |
T |
10: 67,745,197 (GRCm39) |
E194K |
probably damaging |
Het |
|
Other mutations in Or7g29 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01150:Or7g29
|
APN |
9 |
19,286,535 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01293:Or7g29
|
APN |
9 |
19,286,632 (GRCm39) |
missense |
probably benign |
0.23 |
IGL01879:Or7g29
|
APN |
9 |
19,286,703 (GRCm39) |
nonsense |
probably null |
|
IGL03298:Or7g29
|
APN |
9 |
19,286,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R1350:Or7g29
|
UTSW |
9 |
19,286,710 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1400:Or7g29
|
UTSW |
9 |
19,286,358 (GRCm39) |
missense |
probably damaging |
0.98 |
R2894:Or7g29
|
UTSW |
9 |
19,286,588 (GRCm39) |
nonsense |
probably null |
|
R4468:Or7g29
|
UTSW |
9 |
19,286,944 (GRCm39) |
missense |
probably benign |
0.00 |
R4694:Or7g29
|
UTSW |
9 |
19,286,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R4791:Or7g29
|
UTSW |
9 |
19,287,105 (GRCm39) |
missense |
probably benign |
0.28 |
R4794:Or7g29
|
UTSW |
9 |
19,286,841 (GRCm39) |
missense |
probably benign |
0.00 |
R5517:Or7g29
|
UTSW |
9 |
19,287,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R5777:Or7g29
|
UTSW |
9 |
19,287,014 (GRCm39) |
missense |
probably benign |
0.29 |
R6505:Or7g29
|
UTSW |
9 |
19,286,237 (GRCm39) |
makesense |
probably null |
|
R6509:Or7g29
|
UTSW |
9 |
19,286,439 (GRCm39) |
missense |
probably benign |
|
R7246:Or7g29
|
UTSW |
9 |
19,286,761 (GRCm39) |
nonsense |
probably null |
|
R7659:Or7g29
|
UTSW |
9 |
19,286,854 (GRCm39) |
missense |
probably benign |
0.03 |
R7789:Or7g29
|
UTSW |
9 |
19,286,361 (GRCm39) |
missense |
probably benign |
0.33 |
R7886:Or7g29
|
UTSW |
9 |
19,287,202 (GRCm39) |
splice site |
probably null |
|
R8948:Or7g29
|
UTSW |
9 |
19,286,262 (GRCm39) |
missense |
probably benign |
0.03 |
R9326:Or7g29
|
UTSW |
9 |
19,286,346 (GRCm39) |
missense |
probably damaging |
1.00 |
R9612:Or7g29
|
UTSW |
9 |
19,286,677 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9784:Or7g29
|
UTSW |
9 |
19,287,116 (GRCm39) |
missense |
probably damaging |
0.99 |
R9798:Or7g29
|
UTSW |
9 |
19,286,577 (GRCm39) |
missense |
probably benign |
0.30 |
Z1088:Or7g29
|
UTSW |
9 |
19,286,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CGCAGTGCTAATGATCAAGGAC -3'
(R):5'- CTACAGTAGAGCCCCTCATCTTTG -3'
Sequencing Primer
(F):5'- TCAGCAAACCACAGAATTGGG -3'
(R):5'- TGGCTTCTTTATGTTTACATATCTGG -3'
|
Posted On |
2016-10-26 |