Mutagenetix > Incidental Mutation

Incidental Mutation 'R8222:Or5d36'

636744

Institutional Source

Beutler Lab

Gene Symbol

Or5d36

Ensembl Gene

ENSMUSG00000075137

Gene Name

olfactory receptor family 5 subfamily D member 36

Synonyms

Olfr1163, MOR174-8, GA_x6K02T2Q125-49563265-49562315

MMRRC Submission

067640-MU

Accession Numbers

Essential gene?

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

Stock #

R8222 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87900709-87901751 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87901381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 115 (Y115F)

Ref Sequence

ENSEMBL: ENSMUSP00000097423 (fasta)

Gene Model

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

AlphaFold

Q8VFR4

Predicted Effect

probably benign
Transcript: ENSMUST00000099835
AA Change: Y115F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000097423
Gene: ENSMUSG00000075137
AA Change: Y115F

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

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

100% (56/56)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh18a1	C	T	19: 40,562,296 (GRCm39)	V243I	probably benign	Het
Ankrd11	A	T	8: 123,622,347 (GRCm39)	S481T	probably damaging	Het
Atg2b	A	G	12: 105,618,475 (GRCm39)	I859T	possibly damaging	Het
B4galt3	G	A	1: 171,100,253 (GRCm39)	R141Q	possibly damaging	Het
Bace1	T	C	9: 45,768,491 (GRCm39)	V262A	probably damaging	Het
BC106179	A	T	16: 23,043,055 (GRCm39)	I47N	noncoding transcript	Het
Brpf1	C	T	6: 113,286,999 (GRCm39)	P76S	probably benign	Het
Cdk1	A	G	10: 69,176,426 (GRCm39)	V227A	probably benign	Het
Ceacam20	T	C	7: 19,705,618 (GRCm39)	V203A	probably benign	Het
Cfap251	T	A	5: 123,440,486 (GRCm39)	Y1091N	probably damaging	Het
Cma2	T	C	14: 56,210,727 (GRCm39)	V194A	probably benign	Het
Cnnm4	A	G	1: 36,545,617 (GRCm39)	D749G	probably benign	Het
Cyp11b2	T	C	15: 74,728,059 (GRCm39)	T8A	probably benign	Het
Dlk2	A	G	17: 46,613,384 (GRCm39)	H170R	probably benign	Het
Esyt1	C	T	10: 128,347,647 (GRCm39)	R987Q	possibly damaging	Het
Ganc	T	C	2: 120,276,933 (GRCm39)	I665T	probably damaging	Het
Gas6	T	C	8: 13,520,276 (GRCm39)	T471A	probably benign	Het
Grik2	A	G	10: 49,449,744 (GRCm39)	F153L	probably benign	Het
Heatr5b	A	G	17: 79,109,130 (GRCm39)	V1043A	possibly damaging	Het
Ipo5	A	G	14: 121,157,414 (GRCm39)	D84G	probably benign	Het
Irak4	T	A	15: 94,459,110 (GRCm39)		probably null	Het
Lrp4	T	A	2: 91,305,086 (GRCm39)	C238S	probably damaging	Het
Mau2	A	T	8: 70,485,827 (GRCm39)		probably null	Het
Mdn1	T	C	4: 32,707,477 (GRCm39)	F1589L	probably benign	Het
Mlxip	T	G	5: 123,585,596 (GRCm39)	S662A	probably benign	Het
Mn1	A	T	5: 111,566,546 (GRCm39)	N172I	probably damaging	Het
Mup2	A	C	4: 60,138,454 (GRCm39)	D79E	probably benign	Het
Nab2	C	A	10: 127,498,645 (GRCm39)	V475L	probably benign	Het
Nlrp3	A	G	11: 59,439,614 (GRCm39)	E397G	probably damaging	Het
Odf2l	A	G	3: 144,833,799 (GRCm39)	E153G	probably damaging	Het
Or13p10	T	C	4: 118,523,113 (GRCm39)	L133P	probably damaging	Het
Or51f5	G	T	7: 102,424,099 (GRCm39)	D123Y	probably damaging	Het
Or5l13	T	C	2: 87,779,788 (GRCm39)	N263S	probably benign	Het
Pkdrej	T	A	15: 85,701,640 (GRCm39)	H1432L	probably benign	Het
Plec	C	T	15: 76,063,374 (GRCm39)	R2232H	possibly damaging	Het
Polk	T	C	13: 96,632,023 (GRCm39)	M317V	possibly damaging	Het
Ppp4r3a	A	G	12: 101,008,164 (GRCm39)	S758P	probably benign	Het
Pramel26	A	T	4: 143,536,893 (GRCm39)	D479E	possibly damaging	Het
Prdm9	A	G	17: 15,765,035 (GRCm39)	S582P	possibly damaging	Het
R3hcc1l	T	A	19: 42,564,616 (GRCm39)	L643H	probably damaging	Het
Rassf8	G	A	6: 145,765,783 (GRCm39)	V38M	unknown	Het
Reln	G	A	5: 22,136,475 (GRCm39)	Q2518*	probably null	Het
Sel1l3	A	G	5: 53,345,296 (GRCm39)		probably null	Het
Serpina3m	A	T	12: 104,358,960 (GRCm39)	D324V	possibly damaging	Het
Slc12a6	T	A	2: 112,169,870 (GRCm39)		probably null	Het
Slc25a3	A	G	10: 90,954,053 (GRCm39)	W219R	probably damaging	Het
Sort1	T	A	3: 108,241,951 (GRCm39)	V299E	probably benign	Het
Stx6	A	G	1: 155,073,889 (GRCm39)	D233G	possibly damaging	Het
Tefm	A	G	11: 80,031,230 (GRCm39)	V2A		Het
Tfdp2	T	C	9: 96,192,666 (GRCm39)	S190P	possibly damaging	Het
Tmprss7	A	T	16: 45,478,461 (GRCm39)	I755N	probably damaging	Het
Trpm8	A	G	1: 88,253,390 (GRCm39)		probably null	Het
Ube2q2l	A	G	6: 136,377,882 (GRCm39)	I316T	probably damaging	Het
Ugt2a2	A	G	5: 87,608,369 (GRCm39)	L490P	probably damaging	Het
Utp20	A	G	10: 88,614,234 (GRCm39)	L1240P	probably damaging	Het
Vmn1r159	G	T	7: 22,542,608 (GRCm39)	Y141*	probably null	Het
Vmn2r56	T	A	7: 12,444,960 (GRCm39)	Y431F	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACAATGAGGGCAGTATATTCACAG -3'
(R):5'- AAACCTTGGCATGACAGTGC -3'

Sequencing Primer
(F):5'- CAGTATATTCACAGAAGAAGTGGTTG -3'
(R):5'- TGGCATGACAGTGCTCATC -3'

Posted On

2020-07-13