Mutagenetix > Incidental Mutation

Incidental Mutation 'R4589:Or52h1'

342679

Institutional Source

Beutler Lab

Gene Symbol

Or52h1

Ensembl Gene

ENSMUSG00000042909

Gene Name

olfactory receptor family 52 subfamily H member 1

Synonyms

Olfr648, GA_x6K02T2PBJ9-6914780-6913830, MOR31-12

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.452) question?

Stock #

R4589 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103828663-103829613 bp(-) (GRCm39)

Type of Mutation

splice site (27 bp from exon)

DNA Base Change (assembly)

C to A at 103828636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052659] [ENSMUST00000216612]

AlphaFold

Q8VG19

Predicted Effect

probably null
Transcript: ENSMUST00000052659

SMART Domains

Protein: ENSMUSP00000062529
Gene: ENSMUSG00000042909

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	2e-111	PFAM
Pfam:7TM_GPCR_Srsx	37	309	7.7e-7	PFAM
Pfam:7tm_1	43	294	3.1e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000104877

SMART Domains

Protein: ENSMUSP00000100471
Gene: ENSMUSG00000042909

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	37	309	1.1e-8	PFAM
Pfam:7tm_1	43	294	3.6e-28	PFAM
Pfam:7tm_4	141	287	1.9e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216612

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	G	T	16: 14,211,895 (GRCm39)	V157L	probably benign	Het
Actn1	G	A	12: 80,218,573 (GRCm39)	T737I	possibly damaging	Het
Ada	T	C	2: 163,574,868 (GRCm39)	K90E	possibly damaging	Het
Ap2b1	T	A	11: 83,223,837 (GRCm39)	L184*	probably null	Het
Arfgef3	T	C	10: 18,521,947 (GRCm39)	D693G	probably damaging	Het
Arid4a	A	T	12: 71,116,738 (GRCm39)	I277F	probably damaging	Het
Armh4	A	G	14: 50,011,039 (GRCm39)	S223P	probably damaging	Het
Ccdc171	A	G	4: 83,467,855 (GRCm39)	S67G	probably benign	Het
Ccr5	T	A	9: 123,924,539 (GRCm39)	F47L	probably benign	Het
Clip4	T	A	17: 72,117,862 (GRCm39)	C302*	probably null	Het
Cyth1	C	T	11: 118,075,811 (GRCm39)	V142I	possibly damaging	Het
Ddx59	T	A	1: 136,367,480 (GRCm39)		probably null	Het
Def6	G	T	17: 28,447,121 (GRCm39)	R584L	probably benign	Het
Dnah7c	C	A	1: 46,553,743 (GRCm39)	Y340*	probably null	Het
Eif2ak4	T	G	2: 118,247,819 (GRCm39)	C173W	probably damaging	Het
Gm14403	C	T	2: 177,200,428 (GRCm39)	H125Y	probably benign	Het
Grk3	T	C	5: 113,089,584 (GRCm39)	I323V	possibly damaging	Het
Homez	G	T	14: 55,094,487 (GRCm39)	T407K	probably damaging	Het
Igdcc4	A	G	9: 65,037,910 (GRCm39)	T763A	probably damaging	Het
Ighg2b	A	T	12: 113,270,104 (GRCm39)	W305R	unknown	Het
Il27ra	G	T	8: 84,763,038 (GRCm39)	N296K	probably damaging	Het
Lzic	G	T	4: 149,572,561 (GRCm39)	L50F	probably damaging	Het
Mbtd1	T	C	11: 93,812,245 (GRCm39)	V183A	probably damaging	Het
Mme	T	A	3: 63,287,693 (GRCm39)	D731E	probably benign	Het
Mocos	T	C	18: 24,787,095 (GRCm39)	L38P	probably damaging	Het
Mrps18a	T	C	17: 46,428,899 (GRCm39)		probably null	Het
Msh2	T	A	17: 87,987,460 (GRCm39)	V200D	possibly damaging	Het
Mug1	A	T	6: 121,834,310 (GRCm39)	I364F	probably benign	Het
Mycbp2	G	T	14: 103,414,749 (GRCm39)	S2554R	probably benign	Het
Nat10	A	G	2: 103,584,415 (GRCm39)	C121R	probably damaging	Het
Nfatc3	T	A	8: 106,805,705 (GRCm39)	D183E	probably damaging	Het
Odr4	C	T	1: 150,260,238 (GRCm39)	V127I	probably benign	Het
Or4d10c	T	C	19: 12,065,305 (GRCm39)	I284V	possibly damaging	Het
Or51ac3	A	T	7: 103,213,639 (GRCm39)	F282L	probably damaging	Het
Or5d14	T	C	2: 87,880,823 (GRCm39)	I48M	probably benign	Het
Pak6	T	A	2: 118,527,021 (GRCm39)	I672K	probably damaging	Het
Pan3	A	T	5: 147,479,983 (GRCm39)	I830F	probably damaging	Het
Pcdh9	A	T	14: 94,125,628 (GRCm39)	L181I	probably damaging	Het
Pigg	G	A	5: 108,480,556 (GRCm39)	A447T	probably benign	Het
Pitpnb	T	A	5: 111,519,214 (GRCm39)	S165T	probably damaging	Het
Pla2g2a	A	G	4: 138,560,590 (GRCm39)	Y67C	probably damaging	Het
Plch1	A	G	3: 63,688,928 (GRCm39)	I80T	probably damaging	Het
Pnma1	A	G	12: 84,194,235 (GRCm39)	I156T	probably benign	Het
Prss21	G	T	17: 24,091,796 (GRCm39)	D255Y	possibly damaging	Het
Prune1	T	A	3: 95,169,642 (GRCm39)	I187F	possibly damaging	Het
Rab7b	T	C	1: 131,633,385 (GRCm39)	F78L	probably benign	Het
Riok3	T	A	18: 12,269,844 (GRCm39)	Y92N	probably benign	Het
Rpap2	T	C	5: 107,768,361 (GRCm39)	S400P	probably benign	Het
Ryr3	C	A	2: 112,705,478 (GRCm39)	G792V	probably damaging	Het
Septin3	A	G	15: 82,170,092 (GRCm39)	E206G	probably damaging	Het
Stkld1	T	C	2: 26,840,679 (GRCm39)	S454P	probably damaging	Het
Tdh	A	T	14: 63,733,326 (GRCm39)	L140Q	probably damaging	Het
Tex15	T	A	8: 34,047,401 (GRCm39)	H159Q	probably damaging	Het
Tmed6	C	T	8: 107,790,793 (GRCm39)	V85I	probably benign	Het
Vmn1r174	T	A	7: 23,454,204 (GRCm39)	L290*	probably null	Het
Vmn1r31	A	G	6: 58,449,596 (GRCm39)	S90P	probably damaging	Het
Vmn2r55	T	C	7: 12,404,822 (GRCm39)	T194A	probably damaging	Het
Vmn2r82	A	T	10: 79,192,548 (GRCm39)	I42F	probably damaging	Het
Vps35	G	A	8: 86,014,331 (GRCm39)	P106L	probably damaging	Het
Xrcc6	T	A	15: 81,906,661 (GRCm39)	Y69N	probably damaging	Het
Zbtb14	C	T	17: 69,695,465 (GRCm39)	P388S	probably damaging	Het
Zfp541	C	T	7: 15,817,261 (GRCm39)	A902V	probably benign	Het

Other mutations in Or52h1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02121:Or52h1	APN	7	103,829,432 (GRCm39)	missense	probably damaging	1.00
IGL02488:Or52h1	APN	7	103,829,478 (GRCm39)	missense	possibly damaging	0.66
IGL02956:Or52h1	APN	7	103,829,334 (GRCm39)	missense	probably damaging	1.00
R0001:Or52h1	UTSW	7	103,828,680 (GRCm39)	nonsense	probably null
R0057:Or52h1	UTSW	7	103,829,536 (GRCm39)	missense	probably benign	0.13
R1054:Or52h1	UTSW	7	103,829,498 (GRCm39)	missense	probably benign	0.02
R1262:Or52h1	UTSW	7	103,828,623 (GRCm39)	splice site	probably null
R4975:Or52h1	UTSW	7	103,828,736 (GRCm39)	missense	probably damaging	1.00
R5068:Or52h1	UTSW	7	103,829,448 (GRCm39)	missense	probably damaging	1.00
R5643:Or52h1	UTSW	7	103,829,091 (GRCm39)	missense	probably benign	0.00
R6195:Or52h1	UTSW	7	103,828,961 (GRCm39)	missense	possibly damaging	0.78
R6211:Or52h1	UTSW	7	103,828,954 (GRCm39)	nonsense	probably null
R6233:Or52h1	UTSW	7	103,828,961 (GRCm39)	missense	possibly damaging	0.78
R6259:Or52h1	UTSW	7	103,829,261 (GRCm39)	missense	possibly damaging	0.53
R7138:Or52h1	UTSW	7	103,829,504 (GRCm39)	missense	probably damaging	1.00
R7357:Or52h1	UTSW	7	103,828,978 (GRCm39)	missense	probably damaging	1.00
R7570:Or52h1	UTSW	7	103,828,955 (GRCm39)	missense	probably damaging	1.00
R8352:Or52h1	UTSW	7	103,829,103 (GRCm39)	missense	probably damaging	1.00
R8452:Or52h1	UTSW	7	103,829,103 (GRCm39)	missense	probably damaging	1.00
R8712:Or52h1	UTSW	7	103,829,025 (GRCm39)	missense	probably damaging	1.00
R8937:Or52h1	UTSW	7	103,828,949 (GRCm39)	missense	possibly damaging	0.88
X0018:Or52h1	UTSW	7	103,828,797 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCTGTCAGTGCCATTACACAAC -3'
(R):5'- GCGGTTCCCATGTCTGTGTC -3'

Sequencing Primer
(F):5'- TGTCAGTGCCATTACACAACAAAGG -3'
(R):5'- GCTCATCGCTTTGGACACAATG -3'

Posted On

2015-09-24