Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01472:Or5d36'

88307

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or5d36

Ensembl Gene

ENSMUSG00000075137

Gene Name

olfactory receptor family 5 subfamily D member 36

Synonyms

Olfr1163, MOR174-8, GA_x6K02T2Q125-49563265-49562315

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

IGL01472

Quality Score

Status

Chromosome

Chromosomal Location

87900709-87901751 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87901322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 135 (T135S)

Ref Sequence

ENSEMBL: ENSMUSP00000149399 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099835] [ENSMUST00000215268]

AlphaFold

Q8VFR4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099835
AA Change: T135S

PolyPhen 2 Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000097423
Gene: ENSMUSG00000075137
AA Change: T135S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	310	1.2e-44	PFAM
Pfam:7tm_1	43	292	2.3e-13	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215268
AA Change: T135S

PolyPhen 2 Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)

Coding Region Coverage

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	G	A	7: 119,153,759 (GRCm39)		probably null	Het
Adamts4	T	C	1: 171,080,419 (GRCm39)	F324S	probably damaging	Het
Alg10b	T	A	15: 90,111,900 (GRCm39)	L248Q	possibly damaging	Het
Antxr2	T	A	5: 98,175,358 (GRCm39)	T90S	probably benign	Het
Arhgap21	C	T	2: 20,854,392 (GRCm39)	E1657K	probably damaging	Het
Atp13a5	T	G	16: 29,094,175 (GRCm39)	D803A	probably damaging	Het
Bzw2	T	C	12: 36,159,795 (GRCm39)	D185G	probably damaging	Het
Camta2	A	G	11: 70,574,950 (GRCm39)	S62P	probably damaging	Het
Cep85	T	C	4: 133,861,477 (GRCm39)	Q599R	possibly damaging	Het
Chsy3	G	A	18: 59,309,439 (GRCm39)	V231I	probably damaging	Het
Cnbd2	C	T	2: 156,217,268 (GRCm39)	R457W	probably damaging	Het
Col20a1	A	G	2: 180,649,625 (GRCm39)	T1036A	probably benign	Het
Colgalt2	T	C	1: 152,382,629 (GRCm39)	Y494H	probably damaging	Het
Cox15	G	T	19: 43,732,104 (GRCm39)	Y237*	probably null	Het
Cpne9	C	A	6: 113,269,983 (GRCm39)	S281Y	possibly damaging	Het
D830013O20Rik	G	A	12: 73,411,090 (GRCm39)		noncoding transcript	Het
Dnah5	C	T	15: 28,331,872 (GRCm39)	R2153C	probably damaging	Het
Fam228a	A	G	12: 4,765,610 (GRCm39)	I267T	possibly damaging	Het
Fat4	G	A	3: 38,942,219 (GRCm39)	A371T	probably damaging	Het
Gm1818	T	C	12: 48,603,072 (GRCm39)		noncoding transcript	Het
Gm5592	T	C	7: 40,935,498 (GRCm39)		probably benign	Het
Golga4	C	A	9: 118,361,642 (GRCm39)	L207I	probably damaging	Het
Gtf3c1	A	G	7: 125,250,226 (GRCm39)		probably benign	Het
Hao1	C	T	2: 134,396,150 (GRCm39)	E35K	probably benign	Het
Iqch	T	C	9: 63,455,216 (GRCm39)	I194V	probably benign	Het
Ism1	A	T	2: 139,599,223 (GRCm39)	T392S	probably damaging	Het
Lcmt1	A	G	7: 123,027,376 (GRCm39)	Y313C	probably damaging	Het
Loxl4	A	G	19: 42,585,988 (GRCm39)	C718R	probably damaging	Het
Lyar	T	G	5: 38,382,066 (GRCm39)	I16R	possibly damaging	Het
Map3k20	T	C	2: 72,185,897 (GRCm39)		probably benign	Het
Mtus1	T	C	8: 41,455,449 (GRCm39)	T941A	probably benign	Het
Myh8	A	G	11: 67,179,205 (GRCm39)		probably benign	Het
Myof	T	C	19: 37,911,524 (GRCm39)	D1482G	probably benign	Het
Nr4a3	C	A	4: 48,071,133 (GRCm39)	A534D	probably damaging	Het
Oas1c	A	G	5: 120,940,986 (GRCm39)	V269A	probably damaging	Het
Odf2	T	A	2: 29,783,071 (GRCm39)	S5T	probably damaging	Het
Or5p4	T	C	7: 107,680,411 (GRCm39)	S137P	probably benign	Het
Or9s27	T	A	1: 92,516,694 (GRCm39)	M214K	possibly damaging	Het
Pbk	A	G	14: 66,054,159 (GRCm39)	T235A	probably benign	Het
Phrf1	T	C	7: 140,836,403 (GRCm39)		probably benign	Het
Prkci	A	G	3: 31,104,341 (GRCm39)	D568G	probably damaging	Het
Prom2	T	A	2: 127,374,802 (GRCm39)	Y578F	probably benign	Het
Prph	T	C	15: 98,956,474 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,502,593 (GRCm39)	V3527A	probably benign	Het
Scn10a	C	T	9: 119,446,829 (GRCm39)	V1400I	probably damaging	Het
Slc10a2	A	G	8: 5,141,652 (GRCm39)	L244P	probably damaging	Het
Tardbp	A	G	4: 148,706,521 (GRCm39)	V96A	probably benign	Het
Tbc1d4	C	A	14: 101,727,300 (GRCm39)	E504*	probably null	Het
Tmed3	T	C	9: 89,584,928 (GRCm39)	E109G	probably benign	Het
Tnc	C	T	4: 63,924,656 (GRCm39)	R1014H	probably benign	Het
Tpcn2	C	T	7: 144,821,115 (GRCm39)	R313Q	probably damaging	Het
Trim45	A	G	3: 100,835,381 (GRCm39)	T455A	probably benign	Het
Txlna	A	G	4: 129,525,908 (GRCm39)	I313T	probably damaging	Het
Vmn1r202	A	T	13: 22,686,159 (GRCm39)	I86K	possibly damaging	Het
Vmn2r14	C	A	5: 109,364,180 (GRCm39)	E579*	probably null	Het
Wrn	T	A	8: 33,819,200 (GRCm39)	I8F	possibly damaging	Het
Zc3h18	A	G	8: 123,143,396 (GRCm39)		probably benign	Het
Zfyve26	A	T	12: 79,323,117 (GRCm39)	H876Q	probably benign	Het
Znrf2	C	T	6: 54,840,957 (GRCm39)	T177I	probably damaging	Het

Other mutations in Or5d36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01447:Or5d36	APN	2	87,901,468 (GRCm39)	missense	possibly damaging	0.56
IGL02111:Or5d36	APN	2	87,901,571 (GRCm39)	missense	probably benign	0.22
R1274:Or5d36	UTSW	2	87,900,939 (GRCm39)	missense	probably damaging	1.00
R1938:Or5d36	UTSW	2	87,901,300 (GRCm39)	missense	probably damaging	1.00
R2012:Or5d36	UTSW	2	87,901,063 (GRCm39)	missense	probably benign	0.03
R3056:Or5d36	UTSW	2	87,901,583 (GRCm39)	missense	probably benign
R4127:Or5d36	UTSW	2	87,901,579 (GRCm39)	missense	probably benign	0.00
R4748:Or5d36	UTSW	2	87,900,956 (GRCm39)	missense	probably benign	0.44
R4749:Or5d36	UTSW	2	87,900,956 (GRCm39)	missense	probably benign	0.44
R4769:Or5d36	UTSW	2	87,901,073 (GRCm39)	missense	probably benign	0.25
R6647:Or5d36	UTSW	2	87,901,053 (GRCm39)	missense	probably benign	0.03
R7111:Or5d36	UTSW	2	87,901,000 (GRCm39)	missense	probably damaging	1.00
R7168:Or5d36	UTSW	2	87,900,921 (GRCm39)	missense	probably benign	0.37
R8222:Or5d36	UTSW	2	87,901,381 (GRCm39)	missense	probably benign	0.00
R8869:Or5d36	UTSW	2	87,901,753 (GRCm39)	critical splice acceptor site	probably null
R9043:Or5d36	UTSW	2	87,900,983 (GRCm39)	missense	possibly damaging	0.94
R9205:Or5d36	UTSW	2	87,900,778 (GRCm39)	missense	probably benign	0.16

Posted On

2013-11-18