Mutagenetix > Incidental Mutation

Incidental Mutation 'R4710:Or5h19'

353235

Institutional Source

Beutler Lab

Gene Symbol

Or5h19

Ensembl Gene

ENSMUSG00000043357

Gene Name

olfactory receptor family 5 subfamily H member 19

Synonyms

Olfr187, GA_x54KRFPKG5P-55265713-55264787, MOR183-8

MMRRC Submission

042019-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R4710 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58856143-58860112 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58856638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 154 (H154L)

Ref Sequence

ENSEMBL: ENSMUSP00000147035 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000206428] [ENSMUST00000207673]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054385
AA Change: H154L

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000052477
Gene: ENSMUSG00000043357
AA Change: H154L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	2e-50	PFAM
Pfam:7tm_1	40	289	8.7e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206408

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206428
AA Change: H154L

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207673
AA Change: H154L

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.3476

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

99% (75/76)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,618,262 (GRCm39)	Q185L	probably benign	Het
Acaca	T	A	11: 84,283,163 (GRCm39)	I2243N	possibly damaging	Het
Adamts18	A	G	8: 114,433,558 (GRCm39)	S1059P	probably damaging	Het
Aox4	A	T	1: 58,294,797 (GRCm39)	K1002M	probably damaging	Het
Ap1b1	A	G	11: 4,981,664 (GRCm39)	Y524C	probably damaging	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Bpifb6	T	A	2: 153,750,436 (GRCm39)	I309N	possibly damaging	Het
Cd209b	T	C	8: 3,974,215 (GRCm39)	E99G	probably damaging	Het
Cntn2	T	A	1: 132,455,963 (GRCm39)	H185L	possibly damaging	Het
Col4a2	C	A	8: 11,459,462 (GRCm39)	P299Q	probably benign	Het
Commd3	A	G	2: 18,679,093 (GRCm39)	N106S	probably benign	Het
Coro7	T	G	16: 4,452,797 (GRCm39)		probably benign	Het
Ctf1	C	A	7: 127,316,252 (GRCm39)	P66Q	probably damaging	Het
Dclre1c	T	C	2: 3,441,898 (GRCm39)		probably null	Het
Dnaaf3	A	T	7: 4,529,493 (GRCm39)	L317Q	probably damaging	Het
Dnah2	A	G	11: 69,368,903 (GRCm39)	L1667P	probably damaging	Het
Dpp4	A	G	2: 62,190,659 (GRCm39)	I399T	probably benign	Het
Dysf	C	A	6: 84,074,697 (GRCm39)	D499E	probably damaging	Het
Erg	T	C	16: 95,190,893 (GRCm39)	D90G	possibly damaging	Het
F11	T	C	8: 45,703,183 (GRCm39)	Y169C	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fcgbp	A	T	7: 27,794,386 (GRCm39)	M1197L	probably benign	Het
Gimd1	T	C	3: 132,340,609 (GRCm39)	S42P	possibly damaging	Het
Gm5526	T	A	1: 45,896,579 (GRCm39)		noncoding transcript	Het
Gnl2	T	A	4: 124,947,252 (GRCm39)	S625T	probably benign	Het
H2-Q2	A	G	17: 35,562,278 (GRCm39)	E175G	probably damaging	Het
Hmgxb3	G	A	18: 61,270,547 (GRCm39)	P926S	probably damaging	Het
Ifi213	G	A	1: 173,394,738 (GRCm39)		probably benign	Het
Inhba	T	C	13: 16,201,068 (GRCm39)	V210A	probably benign	Het
Kansl1l	G	A	1: 66,840,655 (GRCm39)	A215V	possibly damaging	Het
Kcnk1	T	A	8: 126,756,267 (GRCm39)	V263D	probably damaging	Het
Kcnk9	A	G	15: 72,384,824 (GRCm39)	I118T	probably damaging	Het
Lamb1	A	G	12: 31,332,582 (GRCm39)	I283V	probably benign	Het
Larp7-ps	T	C	4: 92,079,212 (GRCm39)	E203G	possibly damaging	Het
Lias	A	G	5: 65,555,070 (GRCm39)	D88G	probably benign	Het
Lrrk2	G	A	15: 91,584,130 (GRCm39)	V297M	possibly damaging	Het
Maea	C	T	5: 33,526,034 (GRCm39)	R237C	probably benign	Het
Mdfi	T	A	17: 48,135,511 (GRCm39)	N73I	probably damaging	Het
Mphosph6	T	A	8: 118,528,641 (GRCm39)	M1L	probably damaging	Het
Mta2	T	A	19: 8,926,517 (GRCm39)	I486N	probably damaging	Het
Nbr1	C	T	11: 101,466,101 (GRCm39)	P769L	probably damaging	Het
Ncam2	T	A	16: 81,262,594 (GRCm39)		probably null	Het
Ndel1	A	G	11: 68,736,163 (GRCm39)	Y26H	probably damaging	Het
Neb	T	C	2: 52,150,610 (GRCm39)	R2473G	probably benign	Het
Or10ag53	T	A	2: 87,082,384 (GRCm39)	D34E	possibly damaging	Het
Or2t46	A	T	11: 58,472,548 (GRCm39)	I293F	probably damaging	Het
Or4c3d	T	C	2: 89,882,494 (GRCm39)	Y58C	probably damaging	Het
Or6d13	T	C	6: 116,517,611 (GRCm39)	Y66H	possibly damaging	Het
Or9a2	G	T	6: 41,748,442 (GRCm39)	Q264K	probably benign	Het
Prkn	A	C	17: 12,073,720 (GRCm39)	Q346P	possibly damaging	Het
Prrc2b	T	A	2: 32,083,869 (GRCm39)	S236R	possibly damaging	Het
Rae1	G	T	2: 172,857,185 (GRCm39)		probably benign	Het
Rnf112	T	C	11: 61,340,657 (GRCm39)	D491G	probably damaging	Het
Rnf220	C	T	4: 117,146,411 (GRCm39)		probably benign	Het
Ryr3	G	A	2: 112,596,646 (GRCm39)	L2483F	probably damaging	Het
Sema6a	T	C	18: 47,403,750 (GRCm39)	N624S	probably benign	Het
Sgms1	C	T	19: 32,137,537 (GRCm39)	V10M	probably damaging	Het
Slc23a2	T	C	2: 131,898,629 (GRCm39)	N636S	probably benign	Het
Slc25a48	C	T	13: 56,611,379 (GRCm39)	T162I	probably damaging	Het
Smtn	G	A	11: 3,474,663 (GRCm39)	S716F	probably damaging	Het
Snrnp200	T	C	2: 127,068,053 (GRCm39)	L850P	probably damaging	Het
Sost	G	A	11: 101,857,670 (GRCm39)	P44S	probably damaging	Het
Sox18	A	G	2: 181,312,688 (GRCm39)	Y148H	probably damaging	Het
Stk-ps1	A	G	17: 36,708,562 (GRCm39)		noncoding transcript	Het
Tas2r104	T	A	6: 131,662,407 (GRCm39)	T101S	probably damaging	Het
Traf3ip2	C	T	10: 39,515,256 (GRCm39)	P345S	possibly damaging	Het
Ttn	A	G	2: 76,582,428 (GRCm39)	Y22822H	probably damaging	Het
Vmn2r4	A	G	3: 64,317,201 (GRCm39)		probably null	Het
Vmn2r53	T	A	7: 12,335,129 (GRCm39)	H177L	probably benign	Het
Zbtb20	G	T	16: 43,431,039 (GRCm39)	A517S	probably damaging	Het
Zfat	A	T	15: 68,052,131 (GRCm39)	D554E	probably benign	Het
Zfp719	C	T	7: 43,239,656 (GRCm39)	H415Y	probably damaging	Het

Other mutations in Or5h19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01333:Or5h19	APN	16	58,856,269 (GRCm39)	missense	probably damaging	1.00
R0218:Or5h19	UTSW	16	58,856,456 (GRCm39)	missense	probably benign	0.00
R1023:Or5h19	UTSW	16	58,856,178 (GRCm39)	missense	probably benign	0.00
R1086:Or5h19	UTSW	16	58,856,626 (GRCm39)	missense	probably damaging	1.00
R1472:Or5h19	UTSW	16	58,856,920 (GRCm39)	missense	probably damaging	1.00
R4738:Or5h19	UTSW	16	58,856,558 (GRCm39)	missense	probably benign	0.00
R5265:Or5h19	UTSW	16	58,856,506 (GRCm39)	missense	possibly damaging	0.94
R6053:Or5h19	UTSW	16	58,856,351 (GRCm39)	missense	probably damaging	1.00
R6704:Or5h19	UTSW	16	58,856,225 (GRCm39)	missense	probably damaging	1.00
R6854:Or5h19	UTSW	16	58,856,428 (GRCm39)	missense	possibly damaging	0.75
R7178:Or5h19	UTSW	16	58,856,296 (GRCm39)	missense	probably benign	0.06
R7198:Or5h19	UTSW	16	58,856,456 (GRCm39)	missense	probably benign	0.00
R7404:Or5h19	UTSW	16	58,856,603 (GRCm39)	missense	possibly damaging	0.81
R7462:Or5h19	UTSW	16	58,856,379 (GRCm39)	nonsense	probably null
R7938:Or5h19	UTSW	16	58,856,325 (GRCm39)	nonsense	probably null
R8785:Or5h19	UTSW	16	58,856,530 (GRCm39)	missense	probably damaging	1.00
R8790:Or5h19	UTSW	16	58,856,580 (GRCm39)	missense	possibly damaging	0.96
R8912:Or5h19	UTSW	16	58,856,263 (GRCm39)	missense	probably benign	0.21
R9198:Or5h19	UTSW	16	58,856,263 (GRCm39)	missense	probably benign	0.21
R9234:Or5h19	UTSW	16	58,856,789 (GRCm39)	missense	probably benign	0.05
R9368:Or5h19	UTSW	16	58,856,678 (GRCm39)	missense	probably benign	0.04
R9568:Or5h19	UTSW	16	58,856,213 (GRCm39)	missense	probably damaging	1.00
R9679:Or5h19	UTSW	16	58,856,521 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- TAGTGAAAACCTGGATCGAGC -3'
(R):5'- GGTCCCAAAGATGCTTCTTAAC -3'

Sequencing Primer
(F):5'- TGGATCGAGCCAGAGAAAATAAAAAC -3'
(R):5'- AGAGCAAGGTGATCACTCTCTCTG -3'

Posted On

2015-10-21