Mutagenetix > Incidental Mutation

Incidental Mutation 'R6259:Or52h1'

506553

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

044376-MU

Accession Numbers

Essential gene?

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

Stock #

R6259 (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 103829261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 118 (M118K)

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: M118K

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000062529
Gene: ENSMUSG00000042909
AA Change: M118K

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: M118K

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

99% (74/75)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730507C01Rik	C	A	12: 18,584,120 (GRCm39)	N393K	probably benign	Het
Acap3	A	T	4: 155,980,575 (GRCm39)	I19F	possibly damaging	Het
Acsbg3	A	G	17: 57,184,513 (GRCm39)	Y96C	probably benign	Het
Adamts5	C	T	16: 85,696,641 (GRCm39)	R172H	probably benign	Het
Adgra3	A	G	5: 50,156,483 (GRCm39)	F416L	possibly damaging	Het
Amy1	T	C	3: 113,363,059 (GRCm39)	D96G	possibly damaging	Het
Ank2	A	G	3: 126,810,635 (GRCm39)	S484P	probably benign	Het
Arsa	A	G	15: 89,359,724 (GRCm39)	C68R	probably damaging	Het
Asprv1	A	G	6: 86,605,361 (GRCm39)	Y69C	probably benign	Het
Ass1	A	G	2: 31,378,654 (GRCm39)	E162G	possibly damaging	Het
Atf7	G	T	15: 102,455,673 (GRCm39)	N230K	probably damaging	Het
Atp10b	A	G	11: 43,092,065 (GRCm39)	M367V	probably benign	Het
Atp11b	A	G	3: 35,861,050 (GRCm39)	Y179C	probably damaging	Het
BC004004	A	T	17: 29,517,686 (GRCm39)	Q300L	possibly damaging	Het
Bglap3	A	T	3: 88,276,067 (GRCm39)	I95N	probably damaging	Het
Cacna1h	T	C	17: 25,616,630 (GRCm39)		probably null	Het
Caskin2	C	T	11: 115,691,279 (GRCm39)	G1141D	probably damaging	Het
Clcn4	G	A	7: 7,294,529 (GRCm39)	R351W	possibly damaging	Het
Col11a1	T	C	3: 113,932,096 (GRCm39)	C89R	probably benign	Het
Csrp1	T	G	1: 135,667,252 (GRCm39)		probably null	Het
Cwf19l2	T	C	9: 3,458,879 (GRCm39)	I776T	probably damaging	Het
Cyp2b19	A	T	7: 26,470,817 (GRCm39)	Q486L	possibly damaging	Het
Cyp2j9	T	A	4: 96,472,243 (GRCm39)	Y165F	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dennd1c	G	A	17: 57,374,104 (GRCm39)	R522C	probably damaging	Het
Dmgdh	T	C	13: 93,888,816 (GRCm39)	V818A	probably benign	Het
Dst	T	A	1: 34,221,477 (GRCm39)	V2427E	probably benign	Het
Duox1	C	T	2: 122,175,264 (GRCm39)	T1354M	probably benign	Het
Ehbp1	A	G	11: 22,235,684 (GRCm39)		probably benign	Het
Epc2	T	A	2: 49,378,866 (GRCm39)		probably null	Het
Eya2	T	C	2: 165,558,019 (GRCm39)	V205A	probably benign	Het
Fat4	A	G	3: 39,061,395 (GRCm39)	H4326R	probably benign	Het
Gaa	C	A	11: 119,171,997 (GRCm39)	A700D	probably benign	Het
Gm10100	G	T	10: 77,562,498 (GRCm39)	C60F	possibly damaging	Het
Hhip	T	A	8: 80,699,033 (GRCm39)	R678W	probably damaging	Het
Il21r	T	A	7: 125,229,891 (GRCm39)	I266K	possibly damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kif26b	T	C	1: 178,744,970 (GRCm39)	S1689P	probably damaging	Het
L3mbtl2	A	G	15: 81,566,128 (GRCm39)	E317G	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lratd1	T	A	12: 14,200,646 (GRCm39)	D27V	probably damaging	Het
Lrr1	A	G	12: 69,221,589 (GRCm39)	N244D	probably damaging	Het
Lrrk2	A	T	15: 91,586,450 (GRCm39)	H422L	probably benign	Het
Map4k5	A	G	12: 69,899,514 (GRCm39)	S46P	probably damaging	Het
Ngf	A	G	3: 102,417,113 (GRCm39)		probably benign	Het
Nploc4	T	C	11: 120,276,691 (GRCm39)	I452V	probably benign	Het
Oas1d	T	A	5: 121,057,244 (GRCm39)	Y283*	probably null	Het
Or56b35	A	T	7: 104,963,264 (GRCm39)	I18F	probably benign	Het
Or5b109	A	G	19: 13,211,785 (GRCm39)	H57R	probably damaging	Het
Or5l13	T	C	2: 87,779,779 (GRCm39)	N266S	probably benign	Het
Pdzrn4	A	T	15: 92,655,562 (GRCm39)	E485V	probably damaging	Het
Peg3	A	G	7: 6,712,810 (GRCm39)	V804A	probably damaging	Het
Piezo2	T	A	18: 63,250,749 (GRCm39)	Y450F	possibly damaging	Het
Pprc1	T	A	19: 46,052,849 (GRCm39)	V789E	probably damaging	Het
Prcc	A	G	3: 87,769,454 (GRCm39)	M436T	possibly damaging	Het
Prepl	A	T	17: 85,377,859 (GRCm39)	V507D	probably damaging	Het
Rag1	T	A	2: 101,474,797 (GRCm39)	N115I	possibly damaging	Het
Rap1gap	T	C	4: 137,409,068 (GRCm39)		probably null	Het
Reln	A	C	5: 22,265,331 (GRCm39)	F454V	probably damaging	Het
Slc39a11	A	T	11: 113,354,780 (GRCm39)	S150T	probably benign	Het
Slc45a1	T	A	4: 150,722,817 (GRCm39)	I356F	possibly damaging	Het
Snrnp200	G	A	2: 127,060,343 (GRCm39)	G529D	possibly damaging	Het
Stkld1	A	T	2: 26,839,393 (GRCm39)	D353V	possibly damaging	Het
Susd2	T	C	10: 75,473,880 (GRCm39)	S572G	probably damaging	Het
Synrg	T	A	11: 83,899,484 (GRCm39)	D563E	probably damaging	Het
Tmem131	C	T	1: 36,858,209 (GRCm39)	V713I	probably benign	Het
Tnfrsf8	A	G	4: 145,004,094 (GRCm39)		probably null	Het
Trim26	C	T	17: 37,167,110 (GRCm39)	A267V	probably benign	Het
Trpm1	T	G	7: 63,918,226 (GRCm39)	F522C	possibly damaging	Het
Uggt1	T	C	1: 36,273,997 (GRCm39)	I29V	probably benign	Het
Unc5d	C	T	8: 29,156,820 (GRCm39)	M808I	probably benign	Het
Vmn2r108	T	A	17: 20,683,371 (GRCm39)	D611V	possibly damaging	Het
Vps13a	A	C	19: 16,664,534 (GRCm39)	Y1436*	probably null	Het
Wdfy3	C	T	5: 102,020,831 (GRCm39)	R2491Q	possibly damaging	Het
Zfp518a	G	T	19: 40,901,225 (GRCm39)	V385F	probably benign	Het
Zfp541	C	T	7: 15,829,451 (GRCm39)	A1222V	probably benign	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		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
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
R6233:Or52h1	UTSW	7	103,828,961 (GRCm39)	missense	possibly damaging	0.78
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'- ACAGTACGTGTGAGGTATGATACG -3'
(R):5'- TCTACCTCATCACAGTGGAGC -3'

Sequencing Primer
(F):5'- GAGGTATGATACGTGTCCTACAG -3'
(R):5'- CGGAGCCTTCATGAGCC -3'

Posted On

2018-03-15