Mutagenetix > Incidental Mutation

Incidental Mutation 'R9048:Or5h18'

688207

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

068874-MU

Accession Numbers

Essential gene?

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

Stock #

R9048 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58847286-58848290 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 58847598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 224 (T224I)

Ref Sequence

ENSEMBL: ENSMUSP00000146214 (fasta)

Gene Model

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

AlphaFold

Q8VEX5

Predicted Effect

probably benign
Transcript: ENSMUST00000062380
AA Change: T224I

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000056448
Gene: ENSMUSG00000047960
AA Change: T224I

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
AA Change: T224I

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000216415
AA Change: T224I

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (53/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahcyl	A	T	16: 45,974,558 (GRCm39)	V273D	probably damaging	Het
Als2	C	T	1: 59,225,670 (GRCm39)	V947M	possibly damaging	Het
Bltp1	T	C	3: 37,065,926 (GRCm39)	S67P		Het
Bmp6	C	T	13: 38,682,778 (GRCm39)	T453I	probably damaging	Het
Ccdc141	T	C	2: 76,853,872 (GRCm39)	K1092R	probably damaging	Het
Ces1f	T	C	8: 93,989,695 (GRCm39)	D407G	probably benign	Het
Cfap46	G	T	7: 139,207,259 (GRCm39)	H1887N	unknown	Het
Cldn10	G	A	14: 119,025,656 (GRCm39)	V30M	probably damaging	Het
Col4a1	T	A	8: 11,281,944 (GRCm39)		probably benign	Het
Cyria	G	A	12: 12,412,286 (GRCm39)	A183T	probably damaging	Het
Dmac2l	C	T	12: 69,787,752 (GRCm39)	R63C	probably damaging	Het
Enpp7	A	G	11: 118,881,455 (GRCm39)	H200R	probably damaging	Het
Entrep3	T	C	3: 89,093,048 (GRCm39)	Y269H	probably damaging	Het
Epb41l3	C	T	17: 69,517,218 (GRCm39)	A82V	probably benign	Het
Exph5	A	G	9: 53,284,935 (GRCm39)	H672R	possibly damaging	Het
Glce	A	T	9: 61,967,413 (GRCm39)	Y579*	probably null	Het
Gm9507	G	A	10: 77,647,245 (GRCm39)	P145S	unknown	Het
Igf2	A	T	7: 142,207,759 (GRCm39)	F113I	probably benign	Het
Il1a	T	C	2: 129,148,441 (GRCm39)	S90G	probably benign	Het
Kalrn	A	G	16: 33,854,854 (GRCm39)	I2002T	possibly damaging	Het
Kng2	G	A	16: 22,806,522 (GRCm39)	T559I	probably benign	Het
Leng8	A	G	7: 4,146,931 (GRCm39)		probably benign	Het
Lpcat2	G	T	8: 93,635,878 (GRCm39)	A427S	probably benign	Het
Mapk14	A	G	17: 28,947,358 (GRCm39)	T175A	probably benign	Het
Mei1	C	A	15: 81,969,036 (GRCm39)	S329*	probably null	Het
Mfsd2a	A	G	4: 122,854,768 (GRCm39)	I20T	probably benign	Het
Mtcl1	T	C	17: 66,678,331 (GRCm39)	N665S	probably benign	Het
Mup5	T	A	4: 61,750,612 (GRCm39)	Q177L	probably benign	Het
Nkx6-2	A	G	7: 139,161,876 (GRCm39)	F167S	probably damaging	Het
Or10j5	T	C	1: 172,784,929 (GRCm39)	V189A	probably benign	Het
Or13c7b	T	C	4: 43,820,584 (GRCm39)	Y259C	probably damaging	Het
Or2t26	G	A	11: 49,039,830 (GRCm39)	V249I	probably damaging	Het
Or2y1c	T	A	11: 49,361,880 (GRCm39)	W301R	probably benign	Het
Or55b3	A	T	7: 102,126,684 (GRCm39)	I131N	probably damaging	Het
Pgap6	T	C	17: 26,340,515 (GRCm39)	V633A	probably damaging	Het
Phyh	A	T	2: 4,932,249 (GRCm39)	M112L	probably benign	Het
Pip5k1c	C	A	10: 81,152,710 (GRCm39)		probably benign	Het
Pkn1	G	A	8: 84,424,663 (GRCm39)	R11C	possibly damaging	Het
Podn	G	C	4: 107,878,596 (GRCm39)	R424G	probably damaging	Het
Ptdss2	A	G	7: 140,732,797 (GRCm39)	D222G	probably damaging	Het
Ryk	A	T	9: 102,774,468 (GRCm39)	M401L	probably benign	Het
Sec61g	A	G	11: 16,458,129 (GRCm39)	V22A	probably benign	Het
Septin8	A	G	11: 53,427,530 (GRCm39)	N250D	probably damaging	Het
Siglecg	T	C	7: 43,058,003 (GRCm39)	L7P	probably benign	Het
Sin3a	A	G	9: 57,032,620 (GRCm39)	D1188G	probably damaging	Het
Sipa1l2	G	A	8: 126,174,465 (GRCm39)	T1271M	possibly damaging	Het
Stard9	T	A	2: 120,508,415 (GRCm39)	L241H	probably damaging	Het
Stx8	A	G	11: 67,902,211 (GRCm39)	T132A	probably damaging	Het
Stxbp2	A	G	8: 3,687,218 (GRCm39)	I403V		Het
Stxbp3	A	T	3: 108,723,704 (GRCm39)	M177K	probably benign	Het
Supt16	T	A	14: 52,418,513 (GRCm39)	Q248L	probably damaging	Het
Vmn2r91	A	T	17: 18,356,122 (GRCm39)	L596F	probably benign	Het
Zkscan3	T	C	13: 21,580,686 (GRCm39)	M1V	probably null	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
R8197:Or5h18	UTSW	16	58,847,448 (GRCm39)	missense	probably benign	0.03
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'- TGACCGTGTAAAACAGAGAGTCC -3'
(R):5'- TCAGTATTCATAGGTGGCTTTCTTC -3'

Sequencing Primer
(F):5'- AGAGTCCATCATACCTTGACCATCTG -3'
(R):5'- ATAGGTGGCTTTCTTCATTCCTTG -3'

Posted On

2021-11-19