Mutagenetix > Incidental Mutation

Incidental Mutation 'R7357:Or52h1'

571030

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

045443-MU

Accession Numbers

Essential gene?

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

Stock #

R7357 (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 103828978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 212 (D212E)

Ref Sequence

ENSEMBL: ENSMUSP00000149047 (fasta)

Gene Model

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

AlphaFold

Q8VG19

Predicted Effect

probably damaging
Transcript: ENSMUST00000052659
AA Change: D212E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000062529
Gene: ENSMUSG00000042909
AA Change: D212E

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 damaging
Transcript: ENSMUST00000216612
AA Change: D212E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

97% (64/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	A	T	2: 155,845,787 (GRCm39)	H23Q	unknown	Het
9530068E07Rik	A	T	11: 52,297,821 (GRCm39)	K233I	probably damaging	Het
Aldh1l2	T	C	10: 83,350,408 (GRCm39)	M320V	possibly damaging	Het
C2cd3	A	G	7: 100,079,310 (GRCm39)	N838S		Het
Cacna1s	T	C	1: 135,998,759 (GRCm39)	F218S	probably damaging	Het
Carmil3	G	T	14: 55,728,590 (GRCm39)		probably benign	Het
Cd300a	A	T	11: 114,784,153 (GRCm39)	T54S	probably benign	Het
Celf3	G	A	3: 94,387,637 (GRCm39)	E70K	probably damaging	Het
Celsr1	A	C	15: 85,914,715 (GRCm39)	M1086R	probably benign	Het
Ces2f	G	A	8: 105,676,595 (GRCm39)	M96I	probably benign	Het
Chrdl2	G	A	7: 99,678,414 (GRCm39)	V329I	probably benign	Het
Ctc1	T	A	11: 68,925,568 (GRCm39)	L1035Q	probably benign	Het
Dbi	A	G	1: 120,047,623 (GRCm39)		probably null	Het
Dock3	A	G	9: 106,882,568 (GRCm39)	I405T	probably benign	Het
Dpp4	A	T	2: 62,217,421 (GRCm39)	W59R	probably benign	Het
Dsg3	T	A	18: 20,672,840 (GRCm39)	I837N	probably damaging	Het
Fbxw15	A	G	9: 109,387,308 (GRCm39)	V229A	probably benign	Het
Fermt3	T	C	19: 6,980,211 (GRCm39)	T395A	probably benign	Het
Focad	A	T	4: 88,147,572 (GRCm39)	I404F	probably benign	Het
Gm8104	T	C	14: 42,959,068 (GRCm39)	I86T	probably damaging	Het
Gm9857	A	C	3: 108,847,478 (GRCm39)	L95R	unknown	Het
Hoxa1	A	T	6: 52,133,929 (GRCm39)	S266T	probably benign	Het
Kif19b	A	G	5: 140,480,806 (GRCm39)	R979G	possibly damaging	Het
Leng8	T	A	7: 4,147,932 (GRCm39)	Y625*	probably null	Het
Mast3	A	G	8: 71,237,503 (GRCm39)	V557A	probably damaging	Het
Morc1	T	C	16: 48,442,953 (GRCm39)	F813L	probably benign	Het
Ntf3	T	A	6: 126,078,961 (GRCm39)	I182F	probably damaging	Het
Nup153	G	T	13: 46,870,642 (GRCm39)	A91E	probably benign	Het
Or13l2	G	C	3: 97,317,971 (GRCm39)	N175K	probably damaging	Het
Pamr1	G	A	2: 102,417,049 (GRCm39)	W120*	probably null	Het
Pcsk1	A	G	13: 75,274,079 (GRCm39)	N436S	probably damaging	Het
Pde4dip	T	C	3: 97,622,857 (GRCm39)	K1451E	probably benign	Het
Pebp4	G	A	14: 70,285,864 (GRCm39)	V176I	possibly damaging	Het
Phgdh	G	A	3: 98,247,138 (GRCm39)	A4V	probably benign	Het
Pik3c2g	T	C	6: 139,610,791 (GRCm39)		probably null	Het
Ppic	T	C	18: 53,544,139 (GRCm39)	Y82C	probably damaging	Het
Ppip5k2	A	G	1: 97,686,941 (GRCm39)	V94A	possibly damaging	Het
Ppp1r9b	T	C	11: 94,895,424 (GRCm39)	V704A	probably benign	Het
Pramel6	G	T	2: 87,340,856 (GRCm39)	R396L	not run	Het
Prss48	A	T	3: 85,904,528 (GRCm39)	D223E	probably damaging	Het
Psd3	T	C	8: 68,574,149 (GRCm39)	K11E	probably benign	Het
Rabgap1l	T	C	1: 160,169,608 (GRCm39)	K780E	probably damaging	Het
Retreg1	A	T	15: 25,972,029 (GRCm39)	D323V	probably damaging	Het
Samd11	A	T	4: 156,340,067 (GRCm39)		probably null	Het
Sec14l3	T	A	11: 4,020,127 (GRCm39)	F188Y	probably benign	Het
Serpina5	A	T	12: 104,069,639 (GRCm39)	T284S	possibly damaging	Het
Setx	A	G	2: 29,020,313 (GRCm39)	D100G	probably benign	Het
Sis	A	T	3: 72,832,404 (GRCm39)	V1035D	probably damaging	Het
Slco4a1	A	G	2: 180,113,930 (GRCm39)	I456V	probably benign	Het
Snx14	A	T	9: 88,286,369 (GRCm39)	C393S	possibly damaging	Het
Stil	T	C	4: 114,871,423 (GRCm39)		probably null	Het
Sult6b1	A	G	17: 79,202,059 (GRCm39)	S148P	probably damaging	Het
Sycp2	G	T	2: 178,045,597 (GRCm39)		probably null	Het
Tesmin	T	C	19: 3,447,042 (GRCm39)	I273T	probably benign	Het
Tmem39a	T	A	16: 38,406,592 (GRCm39)	Y310N	probably damaging	Het
Trp53bp1	A	T	2: 121,041,781 (GRCm39)	D1258E	probably damaging	Het
Ttc12	A	C	9: 49,349,687 (GRCm39)	D703E	probably benign	Het
Unc13c	TATAA	TATAATAA	9: 73,840,810 (GRCm39)		probably benign	Het
Unc13c	ATA	ATAGTA	9: 73,840,811 (GRCm39)		probably benign	Het
Usp18	T	C	6: 121,230,808 (GRCm39)	I79T	possibly damaging	Het
Usp9y	A	T	Y: 1,333,656 (GRCm39)	D1596E	possibly damaging	Het
Vmn2r109	A	T	17: 20,761,536 (GRCm39)	V607E	probably damaging	Het
Vwa8	G	A	14: 79,275,641 (GRCm39)	R808K	probably null	Het
Zfp248	A	G	6: 118,406,618 (GRCm39)	Y324H	probably damaging	Het
Zfp513	G	A	5: 31,357,132 (GRCm39)	P387S	possibly damaging	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
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
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'- ATTGTGTCCAAAGCGATGAGC -3'
(R):5'- ATGTGGCCATCTGTTCACCC -3'

Sequencing Primer
(F):5'- GCGATGAGCGAGGATGG -3'
(R):5'- CCAAGACTATCGTCAAGATTGCTGTG -3'

Posted On

2019-09-13