Mutagenetix > Incidental Mutation

Incidental Mutation 'R6233:Or52h1'

504754

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

MMRRC Submission

044361-MU

Accession Numbers

Essential gene?

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

Stock #

R6233 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103828663-103829613 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103828961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 218 (V218D)

Ref Sequence

ENSEMBL: ENSMUSP00000149047 (fasta)

Gene Model

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

AlphaFold

Q8VG19

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052659
AA Change: V218D

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000062529
Gene: ENSMUSG00000042909
AA Change: V218D

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

possibly damaging
Transcript: ENSMUST00000216612
AA Change: V218D

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

Meta Mutation Damage Score

0.1246

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.2%
20x: 94.8%

Validation Efficiency

98% (79/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1	T	A	2: 58,338,411 (GRCm39)	N437I	probably benign	Het
Adam34l	T	G	8: 44,078,949 (GRCm39)	N425T	probably benign	Het
Adgrg7	T	A	16: 56,599,005 (GRCm39)	T57S	possibly damaging	Het
Agbl2	T	A	2: 90,643,657 (GRCm39)	D792E	probably benign	Het
Ankrd9	A	T	12: 110,943,554 (GRCm39)	I160N	probably damaging	Het
Aoc1l2	A	G	6: 48,907,899 (GRCm39)	T300A	probably benign	Het
Baz2b	T	A	2: 59,737,855 (GRCm39)	Q1818L	possibly damaging	Het
Bod1	A	G	11: 31,616,740 (GRCm39)	*174Q	probably null	Het
Cacna1a	A	G	8: 85,315,382 (GRCm39)	Y1539C	probably damaging	Het
Clmn	A	C	12: 104,751,714 (GRCm39)	L247R	probably damaging	Het
Cyp1b1	G	T	17: 80,021,695 (GRCm39)	L16M	probably damaging	Het
Dhrs7l	T	C	12: 72,666,341 (GRCm39)	Y110C	probably damaging	Het
Dhx29	T	A	13: 113,101,071 (GRCm39)	S1205T	probably benign	Het
Dmkn	C	A	7: 30,479,104 (GRCm39)	A280E	probably damaging	Het
Dnah7b	G	A	1: 46,243,429 (GRCm39)	D1578N	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dsc3	C	T	18: 20,098,852 (GRCm39)	G776R	possibly damaging	Het
Eefsec	A	G	6: 88,335,526 (GRCm39)		probably null	Het
Efhb	A	G	17: 53,769,580 (GRCm39)	F243S	possibly damaging	Het
Eif2ak2	A	T	17: 79,178,662 (GRCm39)	Y137*	probably null	Het
Eny2	A	G	15: 44,297,056 (GRCm39)		probably null	Het
F2rl3	A	G	8: 73,489,513 (GRCm39)	T247A	probably benign	Het
Fan1	A	T	7: 64,004,119 (GRCm39)	H782Q	probably damaging	Het
Fbxo28	A	G	1: 182,169,073 (GRCm39)	S22P	unknown	Het
Fcgbpl1	T	C	7: 27,830,885 (GRCm39)	C33R	probably damaging	Het
Fcrlb	A	G	1: 170,736,458 (GRCm39)	I106T	probably damaging	Het
Fer1l5	T	C	1: 36,414,367 (GRCm39)		probably null	Het
Fgfbp1	T	C	5: 44,136,704 (GRCm39)	D196G	possibly damaging	Het
Gab1	A	T	8: 81,606,161 (GRCm39)	Y24*	probably null	Het
Gcc2	T	C	10: 58,106,806 (GRCm39)	S681P	probably damaging	Het
Git2	T	C	5: 114,905,175 (GRCm39)	N94S	probably benign	Het
Gm5799	T	G	14: 43,782,088 (GRCm39)	L87V	probably damaging	Het
Gna12	A	G	5: 140,746,447 (GRCm39)	F333L	possibly damaging	Het
Gria2	A	G	3: 80,614,510 (GRCm39)	I510T	probably damaging	Het
Hace1	T	A	10: 45,546,539 (GRCm39)	I391N	possibly damaging	Het
Il1rap	A	G	16: 26,529,256 (GRCm39)	T310A	probably benign	Het
Itpr3	T	C	17: 27,305,934 (GRCm39)	I164T	probably damaging	Het
Kcnk4	T	C	19: 6,905,697 (GRCm39)	N90S	probably benign	Het
Krt40	G	A	11: 99,433,920 (GRCm39)	A22V	possibly damaging	Het
Lamc1	A	T	1: 153,099,412 (GRCm39)	D1520E	probably benign	Het
Lrrc37	A	T	11: 103,504,214 (GRCm39)	L2585I	probably damaging	Het
Mipep	T	A	14: 61,109,554 (GRCm39)	W644R	probably damaging	Het
Mycl	A	G	4: 122,893,713 (GRCm39)	D171G	probably damaging	Het
Myh7b	C	T	2: 155,473,719 (GRCm39)	A1584V	possibly damaging	Het
Nf1	A	G	11: 79,456,801 (GRCm39)	Y629C	probably damaging	Het
Obscn	T	A	11: 58,888,033 (GRCm39)	E2164V	probably damaging	Het
Or5b118	T	C	19: 13,449,104 (GRCm39)	Y257H	probably damaging	Het
Or5w19	T	C	2: 87,698,904 (GRCm39)	S190P	possibly damaging	Het
Or6c209	T	C	10: 129,483,165 (GRCm39)	M56T	probably benign	Het
Or8k25	T	C	2: 86,243,551 (GRCm39)	I282V	probably damaging	Het
Pcdh20	T	C	14: 88,705,488 (GRCm39)	E604G	probably benign	Het
Pilra	T	C	5: 137,821,763 (GRCm39)	T291A	possibly damaging	Het
Ppp1r9a	G	T	6: 5,077,610 (GRCm39)	D630Y	probably damaging	Het
Pros1	A	C	16: 62,719,284 (GRCm39)	Q102P	possibly damaging	Het
Rad21l	T	C	2: 151,495,462 (GRCm39)	D407G	probably benign	Het
Rapgef5	G	A	12: 117,703,453 (GRCm39)		probably null	Het
Rbm25	G	A	12: 83,706,200 (GRCm39)	A182T	probably benign	Het
Rnf13	A	G	3: 57,740,391 (GRCm39)	E236G	possibly damaging	Het
Robo3	T	G	9: 37,332,225 (GRCm39)	Y891S	probably damaging	Het
Rsrp1	T	A	4: 134,654,113 (GRCm39)	I255K	probably damaging	Het
Scn1a	T	A	2: 66,107,962 (GRCm39)	Y1588F	possibly damaging	Het
Sdr16c6	T	A	4: 4,069,984 (GRCm39)	I119F	probably damaging	Het
Shoc1	T	A	4: 59,076,245 (GRCm39)	D566V	possibly damaging	Het
Slc12a7	T	C	13: 73,953,590 (GRCm39)	S767P	possibly damaging	Het
Slc23a1	A	G	18: 35,757,497 (GRCm39)	I258T	probably damaging	Het
Spata13	G	A	14: 60,929,456 (GRCm39)	R338H	probably benign	Het
Sufu	G	A	19: 46,464,071 (GRCm39)	G428R	probably damaging	Het
Sult2a1	T	C	7: 13,566,600 (GRCm39)	D125G	probably damaging	Het
Tapbp	T	C	17: 34,138,956 (GRCm39)	L41P	probably damaging	Het
Tbc1d16	T	A	11: 119,101,391 (GRCm39)	K40*	probably null	Het
Tdrd6	A	G	17: 43,940,643 (GRCm39)	V135A	probably damaging	Het
Tenm3	A	C	8: 48,870,094 (GRCm39)	V233G	probably damaging	Het
Tmem87a	A	T	2: 120,222,656 (GRCm39)		probably null	Het
Tspan11	T	C	6: 127,915,227 (GRCm39)	Y114H	probably damaging	Het
Ttn	T	A	2: 76,567,997 (GRCm39)	Y27632F	probably benign	Het
Usp44	G	A	10: 93,686,202 (GRCm39)	C539Y	probably damaging	Het
Vmn2r73	G	A	7: 85,519,099 (GRCm39)	P508S	probably benign	Het
Zfp831	A	G	2: 174,488,490 (GRCm39)	D1055G	possibly damaging	Het
Zfp871	CCACAC	CC	17: 32,994,494 (GRCm39)		probably null	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
R4589:Or52h1	UTSW	7	103,828,636 (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
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'- TTGGCGAACATGATGTGGAATG -3'
(R):5'- CTATCGTCAAGATTGCTGTGGG -3'

Sequencing Primer
(F):5'- TGTGAGGGAGACATTGTGTCCAAAG -3'
(R):5'- TGTGGGCATCTCCTTCCGAAG -3'

Posted On

2018-02-28