Mutagenetix > Incidental Mutation

Incidental Mutation 'R6314:Or5h18'

509964

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

044471-MU

Accession Numbers

Essential gene?

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

Stock #

R6314 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58847286-58848290 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58847820 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 150 (I150K)

Ref Sequence

ENSEMBL: ENSMUSP00000150366 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062380] [ENSMUST00000206463] [ENSMUST00000216415]

AlphaFold

Q8VEX5

Predicted Effect

probably benign
Transcript: ENSMUST00000062380
AA Change: I150K

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000056448
Gene: ENSMUSG00000047960
AA Change: I150K

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

noncoding transcript
Transcript: ENSMUST00000205894

Predicted Effect

probably benign
Transcript: ENSMUST00000206463
AA Change: I150K

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000216415
AA Change: I150K

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.5%

Validation Efficiency

98% (54/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	A	C	5: 146,441,702 (GRCm39)	E283A	possibly damaging	Het
Aadacl2	A	T	3: 59,924,824 (GRCm39)	R130S	probably damaging	Het
Adam22	A	T	5: 8,177,365 (GRCm39)	C581*	probably null	Het
Adss2	T	A	1: 177,595,334 (GRCm39)	Y402F	probably damaging	Het
Agfg1	A	T	1: 82,836,155 (GRCm39)	Q13H	probably damaging	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Armc8	A	G	9: 99,417,937 (GRCm39)	S74P	probably benign	Het
Atn1	A	T	6: 124,724,013 (GRCm39)		probably benign	Het
Ddx5	T	C	11: 106,679,347 (GRCm39)		probably benign	Het
Depdc1a	T	A	3: 159,204,051 (GRCm39)	H33Q	probably damaging	Het
Dnmt3l	A	T	10: 77,895,521 (GRCm39)	Y58F	probably benign	Het
Efemp1	C	T	11: 28,864,603 (GRCm39)	T219I	probably benign	Het
Enpp2	T	C	15: 54,729,366 (GRCm39)	N436D	probably damaging	Het
Epb41l4a	A	G	18: 34,007,208 (GRCm39)	V261A	probably damaging	Het
Erap1	A	T	13: 74,822,894 (GRCm39)	K802N	probably damaging	Het
Fads2b	T	C	2: 85,332,520 (GRCm39)	N168S	probably benign	Het
Fcrl6	T	A	1: 172,426,186 (GRCm39)		probably null	Het
Fv1	A	T	4: 147,954,156 (GRCm39)		probably null	Het
Gdpd4	T	A	7: 97,623,160 (GRCm39)	M257K	probably damaging	Het
Gorab	T	C	1: 163,224,658 (GRCm39)	S48G	probably damaging	Het
Gxylt2	A	T	6: 100,775,164 (GRCm39)	H361L	probably damaging	Het
Hk1	A	G	10: 62,128,223 (GRCm39)	Y300H	possibly damaging	Het
Hk3	T	C	13: 55,161,393 (GRCm39)	R156G	probably benign	Het
Hook3	T	A	8: 26,578,136 (GRCm39)	M118L	probably benign	Het
Lmnb2	G	A	10: 80,745,804 (GRCm39)	R92C	probably damaging	Het
Lsr	A	G	7: 30,658,024 (GRCm39)	L380P	probably damaging	Het
Mettl16	A	T	11: 74,686,832 (GRCm39)	R204*	probably null	Het
Or7a37	A	G	10: 78,806,179 (GRCm39)	H232R	probably benign	Het
Or7e173	C	A	9: 19,938,958 (GRCm39)	S92I	probably damaging	Het
Orc3	C	A	4: 34,579,797 (GRCm39)	G494C	possibly damaging	Het
Pcare	T	G	17: 72,059,452 (GRCm39)	Q75P	probably benign	Het
Pip5k1a	G	T	3: 94,975,432 (GRCm39)	T346K	probably damaging	Het
Pitx1	A	T	13: 55,974,166 (GRCm39)	S222T	possibly damaging	Het
Pm20d1	T	C	1: 131,743,754 (GRCm39)	V473A	possibly damaging	Het
Pnpla6	C	T	8: 3,571,572 (GRCm39)	L168F	probably benign	Het
Pramel13	T	C	4: 144,121,157 (GRCm39)	D289G	probably damaging	Het
Reln	C	A	5: 22,357,482 (GRCm39)	E195*	probably null	Het
S100a7l2	A	T	3: 90,995,683 (GRCm39)	V73E	possibly damaging	Het
Sec24b	A	T	3: 129,800,894 (GRCm39)		probably null	Het
Selenbp1	A	G	3: 94,844,576 (GRCm39)	N78D	probably damaging	Het
Serpina1d	T	A	12: 103,730,959 (GRCm39)	T340S	probably benign	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Snap29	T	C	16: 17,237,183 (GRCm39)	M98T	probably benign	Het
Son	G	T	16: 91,457,298 (GRCm39)		probably benign	Het
Spef1l	A	C	7: 139,556,402 (GRCm39)	L195R	possibly damaging	Het
Tgfbi	A	T	13: 56,773,976 (GRCm39)	T252S	probably benign	Het
Thsd7a	T	C	6: 12,554,996 (GRCm39)	N296S	possibly damaging	Het
Tmem225	C	G	9: 40,062,016 (GRCm39)	T210S	probably benign	Het
Tmem245	A	T	4: 56,888,592 (GRCm39)	V778D	possibly damaging	Het
Tor4a	T	C	2: 25,084,794 (GRCm39)	R370G	possibly damaging	Het
Tubgcp3	T	C	8: 12,698,625 (GRCm39)	H442R	probably benign	Het
Vmn1r20	A	T	6: 57,409,042 (GRCm39)	M123L	probably benign	Het
Zfp622	T	C	15: 25,987,067 (GRCm39)	V273A	probably benign	Het
Zhx1	C	T	15: 57,917,398 (GRCm39)	V283I	probably benign	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
R7624:Or5h18	UTSW	16	58,847,382 (GRCm39)	missense	possibly damaging	0.80
R7683:Or5h18	UTSW	16	58,847,469 (GRCm39)	missense	probably benign
R8197:Or5h18	UTSW	16	58,847,448 (GRCm39)	missense	probably benign	0.03
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'- GGTGAATACCTGTATTGAACCAGAC -3'
(R):5'- GCAGTGACTCCTAATATGTTGTTTG -3'

Sequencing Primer
(F):5'- TTAAGAGTAGGATCAGTACAGGA -3'
(R):5'- GAACAAGATGATATCACTTTCCGAG -3'

Posted On

2018-04-02