Mutagenetix > Incidental Mutation

Incidental Mutation 'R5443:Or52h7'

427273

Institutional Source

Beutler Lab

Gene Symbol

Or52h7

Ensembl Gene

ENSMUSG00000073927

Gene Name

olfactory receptor family 52 subfamily H member 7

Synonyms

MOR31-8, Olfr652, GA_x6K02T2PBJ9-7191524-7192471

MMRRC Submission

043008-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R5443 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104213359-104214419 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104213583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 52 (Y52H)

Ref Sequence

ENSEMBL: ENSMUSP00000152027 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098175] [ENSMUST00000215410] [ENSMUST00000216131] [ENSMUST00000219111]

AlphaFold

B9EHE6

Predicted Effect

probably benign
Transcript: ENSMUST00000098175
AA Change: Y52H

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000095777
Gene: ENSMUSG00000073927
AA Change: Y52H

Domain	Start	End	E-Value	Type
transmembrane domain	7	25	N/A	INTRINSIC
Pfam:7tm_4	36	315	2.6e-105	PFAM
Pfam:7TM_GPCR_Srsx	40	312	6.9e-9	PFAM
Pfam:7tm_1	46	297	4.7e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000104877
AA Change: Y49H

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000100471
Gene: ENSMUSG00000042909
AA Change: Y49H

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: ENSMUST00000215410
AA Change: Y52H

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000216131
AA Change: Y52H

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000219111
AA Change: Y52H

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

Meta Mutation Damage Score

0.1557

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.9%

Validation Efficiency

99% (68/69)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap12	A	T	10: 4,305,576 (GRCm39)	E795D	probably damaging	Het
Aldh6a1	T	C	12: 84,484,745 (GRCm39)		probably null	Het
Aox4	A	G	1: 58,273,151 (GRCm39)		probably null	Het
Arhgap39	G	A	15: 76,682,125 (GRCm39)		probably benign	Het
AW551984	T	C	9: 39,509,325 (GRCm39)	E272G	possibly damaging	Het
C1qc	G	A	4: 136,619,804 (GRCm39)		probably benign	Het
Carhsp1	C	A	16: 8,482,203 (GRCm39)	R26L	probably benign	Het
Cdh12	G	T	15: 21,237,935 (GRCm39)	V57L	probably benign	Het
Cfap298	G	T	16: 90,724,099 (GRCm39)	Q168K	probably benign	Het
Clec3a	A	G	8: 115,144,893 (GRCm39)	Y23C	probably benign	Het
Crebrf	G	C	17: 26,961,328 (GRCm39)	V150L	probably damaging	Het
Ddx41	G	T	13: 55,683,104 (GRCm39)	A201E	probably benign	Het
Doc2b	T	C	11: 75,670,921 (GRCm39)	K237E	probably damaging	Het
Dst	T	C	1: 34,267,620 (GRCm39)	S5199P	probably damaging	Het
Efnb2	A	G	8: 8,670,862 (GRCm39)	I129T	probably damaging	Het
Epg5	A	G	18: 78,070,712 (GRCm39)	E2329G	possibly damaging	Het
Esrrg	A	C	1: 187,775,622 (GRCm39)	T27P	possibly damaging	Het
Fah	T	A	7: 84,241,604 (GRCm39)	R316W	probably damaging	Het
Fat4	T	C	3: 39,064,519 (GRCm39)	L4825P	probably damaging	Het
Gabbr1	T	C	17: 37,381,648 (GRCm39)	V804A	probably damaging	Het
Gm1322	G	A	2: 67,015,012 (GRCm39)		noncoding transcript	Het
Gm5114	T	A	7: 39,058,289 (GRCm39)	K443N	probably benign	Het
Gnai2	T	C	9: 107,497,386 (GRCm39)	I3V	probably damaging	Het
Gp2	G	A	7: 119,053,821 (GRCm39)	P47S	possibly damaging	Het
Klf15	C	A	6: 90,444,342 (GRCm39)	Q306K	possibly damaging	Het
Ly6a2	A	T	15: 75,005,568 (GRCm39)		noncoding transcript	Het
Maco1	A	T	4: 134,560,619 (GRCm39)	C121*	probably null	Het
Necab2	A	T	8: 120,195,032 (GRCm39)	M295L	probably benign	Het
Nrg1	A	T	8: 32,339,348 (GRCm39)	Y208N	probably damaging	Het
Nup88	A	T	11: 70,849,256 (GRCm39)	Y232*	probably null	Het
Oacyl	A	G	18: 65,883,253 (GRCm39)	R611G	probably benign	Het
Oasl1	T	C	5: 115,074,129 (GRCm39)		probably null	Het
Or2n1e	T	A	17: 38,585,905 (GRCm39)	M81K	probably damaging	Het
Or2y14	G	T	11: 49,405,262 (GRCm39)	G266C	probably damaging	Het
Or8k25	A	C	2: 86,243,937 (GRCm39)	I153R	possibly damaging	Het
Pate4	A	C	9: 35,519,170 (GRCm39)	S66A	possibly damaging	Het
Pigl	T	A	11: 62,349,309 (GRCm39)	C8*	probably null	Het
Plg	G	A	17: 12,601,070 (GRCm39)	A51T	probably benign	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Ppig	A	T	2: 69,564,635 (GRCm39)	D97V	probably damaging	Het
Ppp1r16a	A	G	15: 76,578,846 (GRCm39)	K517E	possibly damaging	Het
Prr16	A	T	18: 51,436,225 (GRCm39)	S235C	probably damaging	Het
Psmd1	G	A	1: 86,017,905 (GRCm39)	R572H	probably damaging	Het
Sbf2	T	C	7: 109,977,135 (GRCm39)		probably benign	Het
Scrt2	A	T	2: 151,924,043 (GRCm39)	Y25F	probably benign	Het
Sema6d	A	T	2: 124,498,756 (GRCm39)	H222L	probably damaging	Het
Septin2	A	G	1: 93,425,174 (GRCm39)	N110S	possibly damaging	Het
Shpk	G	A	11: 73,113,607 (GRCm39)	G340D	possibly damaging	Het
Smg5	T	A	3: 88,261,896 (GRCm39)	L723H	probably damaging	Het
Sp110	C	T	1: 85,516,841 (GRCm39)	E219K	possibly damaging	Het
Spo11	T	C	2: 172,831,152 (GRCm39)		probably benign	Het
Srarp	T	A	4: 141,163,388 (GRCm39)		probably null	Het
Tbc1d5	A	G	17: 51,042,995 (GRCm39)	I831T	probably damaging	Het
Tm9sf2	A	T	14: 122,363,607 (GRCm39)	Y109F	probably damaging	Het
Tpcn2	A	T	7: 144,809,209 (GRCm39)	M699K	possibly damaging	Het
Trim34a	T	C	7: 103,909,420 (GRCm39)	F289S	possibly damaging	Het
Trim39	T	C	17: 36,571,645 (GRCm39)	H371R	probably damaging	Het
Usp48	T	A	4: 137,348,532 (GRCm39)	I11N	possibly damaging	Het
Zbtb10	T	C	3: 9,345,108 (GRCm39)	F677L	probably benign	Het
Zer1	C	T	2: 30,001,008 (GRCm39)	G138S	probably damaging	Het
Zfp612	A	G	8: 110,816,227 (GRCm39)	K439R	possibly damaging	Het

Other mutations in Or52h7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01311:Or52h7	APN	7	104,214,036 (GRCm39)	missense	probably damaging	1.00
IGL01620:Or52h7	APN	7	104,214,220 (GRCm39)	missense	probably damaging	0.97
IGL01712:Or52h7	APN	7	104,214,226 (GRCm39)	missense	probably benign
IGL02211:Or52h7	APN	7	104,214,333 (GRCm39)	nonsense	probably null
IGL03328:Or52h7	APN	7	104,213,677 (GRCm39)	missense	probably damaging	1.00
K7894:Or52h7	UTSW	7	104,213,739 (GRCm39)	missense	probably benign	0.12
R0138:Or52h7	UTSW	7	104,214,210 (GRCm39)	missense	probably benign
R0632:Or52h7	UTSW	7	104,213,544 (GRCm39)	missense	probably benign	0.00
R1457:Or52h7	UTSW	7	104,214,278 (GRCm39)	missense	probably damaging	1.00
R1494:Or52h7	UTSW	7	104,214,038 (GRCm39)	nonsense	probably null
R1879:Or52h7	UTSW	7	104,214,118 (GRCm39)	missense	possibly damaging	0.93
R2188:Or52h7	UTSW	7	104,213,883 (GRCm39)	missense	probably benign	0.00
R2323:Or52h7	UTSW	7	104,213,826 (GRCm39)	missense	probably benign	0.01
R3862:Or52h7	UTSW	7	104,214,145 (GRCm39)	missense	probably benign	0.01
R3908:Or52h7	UTSW	7	104,213,848 (GRCm39)	missense	probably benign	0.01
R4942:Or52h7	UTSW	7	104,214,212 (GRCm39)	missense	probably benign	0.00
R5572:Or52h7	UTSW	7	104,214,201 (GRCm39)	missense	probably benign	0.08
R6045:Or52h7	UTSW	7	104,213,974 (GRCm39)	missense	probably benign	0.42
R6973:Or52h7	UTSW	7	104,214,183 (GRCm39)	missense	probably benign	0.42
R7147:Or52h7	UTSW	7	104,213,273 (GRCm39)	start gained	probably benign
R7349:Or52h7	UTSW	7	104,213,857 (GRCm39)	missense	probably benign
R7968:Or52h7	UTSW	7	104,213,857 (GRCm39)	missense	probably benign	0.01
R8031:Or52h7	UTSW	7	104,214,316 (GRCm39)	missense	probably damaging	0.99
R8129:Or52h7	UTSW	7	104,213,584 (GRCm39)	missense	probably benign	0.07
R8198:Or52h7	UTSW	7	104,214,140 (GRCm39)	missense	probably benign	0.01
R8296:Or52h7	UTSW	7	104,213,593 (GRCm39)	missense	probably benign
R8345:Or52h7	UTSW	7	104,213,431 (GRCm39)	start codon destroyed	probably null	0.08
R8475:Or52h7	UTSW	7	104,214,066 (GRCm39)	missense	probably benign
R8875:Or52h7	UTSW	7	104,213,670 (GRCm39)	missense	probably benign	0.00
R8881:Or52h7	UTSW	7	104,213,619 (GRCm39)	missense	possibly damaging	0.58
R8927:Or52h7	UTSW	7	104,214,229 (GRCm39)	missense	probably damaging	1.00
R8928:Or52h7	UTSW	7	104,214,229 (GRCm39)	missense	probably damaging	1.00
X0024:Or52h7	UTSW	7	104,213,457 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GCTGGACCACTGTAACTATCATG -3'
(R):5'- TCCATAGCAAAGCTGAAGTGG -3'

Sequencing Primer
(F):5'- GACCACTGTAACTATCATGCCATTTC -3'
(R):5'- GAGGAAAAACATCTGAGTAAGACATC -3'

Posted On

2016-09-01