Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02111:Or5d36'

280132

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: 0.073) question?

Stock #

IGL02111

Quality Score

Status

Chromosome

Chromosomal Location

87900709-87901751 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87901571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 52 (N52Y)

Ref Sequence

ENSEMBL: ENSMUSP00000149399 (fasta)

Gene Model

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

AlphaFold

Q8VFR4

Predicted Effect

probably benign
Transcript: ENSMUST00000099835
AA Change: N52Y

PolyPhen 2 Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000097423
Gene: ENSMUSG00000075137
AA Change: N52Y

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

probably benign
Transcript: ENSMUST00000215268
AA Change: N52Y

PolyPhen 2 Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg3	G	A	8: 95,761,627 (GRCm39)	R130Q	probably damaging	Het
Adipor2	A	T	6: 119,347,157 (GRCm39)	L42*	probably null	Het
Ankrd45	A	G	1: 160,990,921 (GRCm39)	K259E	probably damaging	Het
Apoc3	T	C	9: 46,145,772 (GRCm39)	K79R	possibly damaging	Het
Arhgap40	T	C	2: 158,381,764 (GRCm39)	Y416H	probably damaging	Het
Armc5	A	G	7: 127,843,255 (GRCm39)	T683A	probably benign	Het
Bora	T	C	14: 99,284,813 (GRCm39)	V21A	probably damaging	Het
Cacna1b	C	T	2: 24,497,003 (GRCm39)	S2189N	probably damaging	Het
Cct2	G	A	10: 116,889,017 (GRCm39)	T57I	probably damaging	Het
Cd200r1	A	T	16: 44,609,144 (GRCm39)	N34Y	probably damaging	Het
Cd300ld2	T	A	11: 114,903,219 (GRCm39)		probably benign	Het
Cntnap5a	G	A	1: 116,017,082 (GRCm39)	R225H	probably benign	Het
Cntnap5c	A	T	17: 58,409,103 (GRCm39)	D447V	probably damaging	Het
Cpne7	T	C	8: 123,852,392 (GRCm39)		probably benign	Het
Dap3	G	A	3: 88,836,725 (GRCm39)	T92I	probably benign	Het
Dnmbp	A	G	19: 43,855,994 (GRCm39)	L254P	probably damaging	Het
Egfem1	G	A	3: 29,705,045 (GRCm39)		probably null	Het
Fam120b	T	C	17: 15,622,847 (GRCm39)	L275P	possibly damaging	Het
Fam161a	A	T	11: 22,970,026 (GRCm39)	H68L	probably benign	Het
Fam193a	A	G	5: 34,568,001 (GRCm39)	E100G	possibly damaging	Het
Ftmt	A	T	18: 52,465,125 (GRCm39)	D147V	possibly damaging	Het
Gm10136	T	C	19: 28,981,122 (GRCm39)	K41E	probably benign	Het
Gm10797	C	T	10: 67,408,397 (GRCm39)		noncoding transcript	Het
Hsf1	A	G	15: 76,380,281 (GRCm39)		probably benign	Het
Ipo8	A	G	6: 148,701,278 (GRCm39)	V514A	probably damaging	Het
Itfg2	T	C	6: 128,387,344 (GRCm39)	H422R	probably benign	Het
Lrp4	G	T	2: 91,336,404 (GRCm39)	L1738F	probably damaging	Het
Matcap2	T	C	9: 22,335,475 (GRCm39)	I31T	probably benign	Het
Mettl17	A	G	14: 52,128,843 (GRCm39)	E371G	probably damaging	Het
Mfsd6	A	T	1: 52,747,503 (GRCm39)	L454Q	probably damaging	Het
Myh10	A	T	11: 68,680,938 (GRCm39)	E956V	probably damaging	Het
Ncoa1	A	T	12: 4,324,944 (GRCm39)	M1K	probably null	Het
Or2d3c	A	C	7: 106,525,823 (GRCm39)	V281G	probably damaging	Het
Or52e4	A	G	7: 104,706,152 (GRCm39)	D233G	probably benign	Het
Otop1	T	A	5: 38,435,045 (GRCm39)	C89S	probably benign	Het
Pitrm1	G	T	13: 6,623,181 (GRCm39)	R775L	probably benign	Het
Prpf19	A	G	19: 10,882,458 (GRCm39)	T512A	probably benign	Het
Prpf4b	T	A	13: 35,067,944 (GRCm39)	S258T	probably benign	Het
Rhbdl2	T	C	4: 123,716,630 (GRCm39)	Y196H	probably damaging	Het
Rnf187	T	C	11: 58,828,006 (GRCm39)	D148G	probably damaging	Het
Sbds	A	G	5: 130,279,782 (GRCm39)	I74T	probably damaging	Het
Sec63	T	C	10: 42,686,884 (GRCm39)	V468A	probably damaging	Het
Slc35b3	A	T	13: 39,139,758 (GRCm39)	M23K	probably damaging	Het
Slc6a9	A	T	4: 117,721,210 (GRCm39)	Y208F	probably benign	Het
Slfn8	A	T	11: 82,895,324 (GRCm39)	L494Q	probably damaging	Het
Sorcs1	T	G	19: 50,218,683 (GRCm39)	M600L	probably benign	Het
Supt7l	T	C	5: 31,673,022 (GRCm39)		probably null	Het
Tecrl	T	A	5: 83,502,639 (GRCm39)	Q70L	probably damaging	Het
Tedc2	A	T	17: 24,437,140 (GRCm39)		probably benign	Het
Tespa1	A	G	10: 130,191,353 (GRCm39)	D99G	probably damaging	Het
Tmem126b	G	T	7: 90,118,269 (GRCm39)	Q204K	probably damaging	Het
Tmem181c-ps	A	T	17: 6,887,766 (GRCm39)		noncoding transcript	Het
Tmem184a	G	T	5: 139,798,856 (GRCm39)	T31K	possibly damaging	Het
Tmprss11e	T	A	5: 86,867,660 (GRCm39)	I137F	possibly damaging	Het
Tmprss13	C	T	9: 45,247,403 (GRCm39)	T255I	probably damaging	Het
Top1mt	G	A	15: 75,537,555 (GRCm39)		probably benign	Het
Treh	C	T	9: 44,594,258 (GRCm39)	T168I	probably benign	Het
Ttn	A	T	2: 76,597,672 (GRCm39)	I11420N	probably benign	Het
Zp2	T	C	7: 119,731,641 (GRCm39)	K705E	possibly damaging	Het
Zw10	T	C	9: 48,980,054 (GRCm39)	I395T	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
IGL01472:Or5d36	APN	2	87,901,322 (GRCm39)	missense	possibly damaging	0.56
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

2015-04-16