Mutagenetix > Incidental Mutation

Incidental Mutation 'R8197:Or5h18'

635513

Institutional Source

Beutler Lab

Gene Symbol

Or5h18

Ensembl Gene

ENSMUSG00000047960

Gene Name

olfactory receptor family 5 subfamily H member 18

Synonyms

Olfr186, GA_x54KRFPKG5P-55257214-55256285, MOR183-9

MMRRC Submission

067620-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R8197 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58847286-58848290 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58847448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 274 (D274V)

Ref Sequence

ENSEMBL: ENSMUSP00000056448 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062380] [ENSMUST00000206463]

AlphaFold

Q8VEX5

Predicted Effect

probably benign
Transcript: ENSMUST00000062380
AA Change: D274V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000056448
Gene: ENSMUSG00000047960
AA Change: D274V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	9.4e-49	PFAM
Pfam:7tm_1	41	290	7e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000206463

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.7%

Validation Efficiency

96% (46/48)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	A	8: 111,780,628 (GRCm39)	D836E	probably benign	Het
Abca6	A	C	11: 110,102,641 (GRCm39)	L861R	probably damaging	Het
Adamts18	G	T	8: 114,481,227 (GRCm39)	A560E	probably damaging	Het
Adra2b	A	T	2: 127,206,578 (GRCm39)	Q365L	possibly damaging	Het
Anxa3	A	G	5: 96,982,651 (GRCm39)	T250A	probably benign	Het
B4galt5	T	A	2: 167,144,023 (GRCm39)	N309I	probably benign	Het
Bub1	G	T	2: 127,643,177 (GRCm39)	R1056S	probably damaging	Het
Ccdc185	G	T	1: 182,576,324 (GRCm39)	P122T	possibly damaging	Het
Cdk5rap3	A	G	11: 96,806,975 (GRCm39)		probably null	Het
Cntnap4	T	A	8: 113,296,857 (GRCm39)	Y31N	probably benign	Het
Crygc	T	C	1: 65,112,365 (GRCm39)	M70V	probably benign	Het
Dnah14	A	G	1: 181,517,666 (GRCm39)	E2000G	possibly damaging	Het
Dpp4	T	C	2: 62,203,171 (GRCm39)	N266S	probably benign	Het
Edrf1	T	A	7: 133,249,088 (GRCm39)	D304E	probably benign	Het
Fabp9	T	G	3: 10,259,887 (GRCm39)	K42T	probably benign	Het
Fhl4	T	A	10: 84,934,101 (GRCm39)	I227F	probably damaging	Het
Gm13941	T	C	2: 110,926,921 (GRCm39)		probably null	Het
Gsdmd	T	C	15: 75,736,186 (GRCm39)	I105T	possibly damaging	Het
Gys1	A	G	7: 45,092,348 (GRCm39)	D317G	possibly damaging	Het
Hrh4	A	G	18: 13,154,986 (GRCm39)	Y175C	probably damaging	Het
Igfals	A	G	17: 25,099,278 (GRCm39)	N123S	probably benign	Het
Igkv5-37	A	G	6: 69,940,841 (GRCm39)	V2A	possibly damaging	Het
Iqsec3	A	G	6: 121,389,971 (GRCm39)	L500P	unknown	Het
Itgae	G	A	11: 73,011,210 (GRCm39)	R660Q	probably benign	Het
Kcnip2	T	C	19: 45,782,730 (GRCm39)	I204V	possibly damaging	Het
Kndc1	A	G	7: 139,493,447 (GRCm39)	E471G	probably damaging	Het
Lrrtm3	T	A	10: 63,924,295 (GRCm39)	T291S	possibly damaging	Het
Mast1	T	A	8: 85,639,450 (GRCm39)	H1293L	possibly damaging	Het
Mrnip	A	G	11: 50,090,607 (GRCm39)	E257G	probably benign	Het
Myo9b	T	C	8: 71,743,607 (GRCm39)	Y223H	probably damaging	Het
Nab1	G	A	1: 52,529,127 (GRCm39)	R257*	probably null	Het
Ncapd3	C	A	9: 26,997,329 (GRCm39)	L1217I	probably damaging	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Pde4d	T	A	13: 110,084,870 (GRCm39)	I489N	probably damaging	Het
Pdyn	C	T	2: 129,530,277 (GRCm39)	G131R	probably benign	Het
Qrich2	CACCTGCTTGCAACACACCAGGCTGAACTGGACCT	CACCT	11: 116,347,861 (GRCm39)		probably benign	Het
Rps6ka1	T	C	4: 133,592,673 (GRCm39)	K276E	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,121 (GRCm39)		probably benign	Het
Scube2	T	A	7: 109,407,684 (GRCm39)	N752I	possibly damaging	Het
Scyl2	T	C	10: 89,498,228 (GRCm39)	I194V	probably benign	Het
Sec31b	T	G	19: 44,512,955 (GRCm39)	R511S	probably benign	Het
Serpinb6d	T	C	13: 33,851,588 (GRCm39)	F115S	probably damaging	Het
Skint6	T	G	4: 112,752,040 (GRCm39)		probably null	Het
Supt16	G	A	14: 52,411,542 (GRCm39)	P614S	possibly damaging	Het
Tmem114	T	C	16: 8,227,516 (GRCm39)	I182M	probably damaging	Het
Vmn1r125	G	A	7: 21,006,851 (GRCm39)	V250I	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Zfp1005	A	T	2: 150,109,577 (GRCm39)	H89L	possibly damaging	Het
Zfp959	A	T	17: 56,204,677 (GRCm39)	D238V	probably damaging	Het

Other mutations in Or5h18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00951:Or5h18	APN	16	58,848,216 (GRCm39)	missense	probably benign	0.00
IGL00969:Or5h18	APN	16	58,847,994 (GRCm39)	missense	possibly damaging	0.48
IGL01102:Or5h18	APN	16	58,848,192 (GRCm39)	missense	probably benign	0.03
IGL01348:Or5h18	APN	16	58,848,157 (GRCm39)	missense	probably damaging	1.00
IGL01399:Or5h18	APN	16	58,847,629 (GRCm39)	missense	probably benign	0.05
IGL02088:Or5h18	APN	16	58,847,415 (GRCm39)	missense	probably damaging	1.00
R0047:Or5h18	UTSW	16	58,847,587 (GRCm39)	missense	probably benign	0.00
R0479:Or5h18	UTSW	16	58,847,491 (GRCm39)	missense	possibly damaging	0.64
R0866:Or5h18	UTSW	16	58,847,791 (GRCm39)	missense	probably benign
R0926:Or5h18	UTSW	16	58,848,051 (GRCm39)	missense	possibly damaging	0.80
R1760:Or5h18	UTSW	16	58,847,350 (GRCm39)	missense	probably benign	0.01
R1955:Or5h18	UTSW	16	58,847,774 (GRCm39)	missense	probably damaging	0.99
R2085:Or5h18	UTSW	16	58,848,232 (GRCm39)	missense	probably benign	0.02
R2118:Or5h18	UTSW	16	58,848,178 (GRCm39)	missense	possibly damaging	0.78
R4156:Or5h18	UTSW	16	58,847,931 (GRCm39)	missense	probably damaging	1.00
R4287:Or5h18	UTSW	16	58,847,976 (GRCm39)	missense	probably benign	0.00
R4783:Or5h18	UTSW	16	58,848,260 (GRCm39)	missense	probably benign
R4885:Or5h18	UTSW	16	58,847,518 (GRCm39)	missense	probably damaging	1.00
R4947:Or5h18	UTSW	16	58,847,808 (GRCm39)	missense	probably damaging	0.98
R4965:Or5h18	UTSW	16	58,847,696 (GRCm39)	missense	probably damaging	1.00
R6314:Or5h18	UTSW	16	58,847,820 (GRCm39)	missense	probably benign	0.18
R7624:Or5h18	UTSW	16	58,847,382 (GRCm39)	missense	possibly damaging	0.80
R7683:Or5h18	UTSW	16	58,847,469 (GRCm39)	missense	probably benign
R9048:Or5h18	UTSW	16	58,847,598 (GRCm39)	missense	probably benign	0.20
R9117:Or5h18	UTSW	16	58,847,653 (GRCm39)	missense	probably benign	0.12
R9309:Or5h18	UTSW	16	58,848,186 (GRCm39)	missense	probably damaging	1.00
R9444:Or5h18	UTSW	16	58,848,018 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TACCAACCTGGCAAATTCTGTG -3'
(R):5'- CAGTATTCATAGGTGGCTTTCTTC -3'

Sequencing Primer
(F):5'- CTGGCAAATTCTGTGGCTGTTTTATG -3'
(R):5'- GTCTGGTTCAATACAGGTATTCACC -3'

Posted On

2020-07-13