Mutagenetix > Incidental Mutation

Incidental Mutation 'R8393:Or52ab2'

647471

Institutional Source

Beutler Lab

Gene Symbol

Or52ab2

Ensembl Gene

ENSMUSG00000073952

Gene Name

olfactory receptor family 52 subfamily AB member 2

Synonyms

Olfr597, MOR23-2, GA_x6K02T2PBJ9-6029614-6030561

MMRRC Submission

067811-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R8393 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102969620-102970567 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102969668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 17 (I17F)

Ref Sequence

ENSEMBL: ENSMUSP00000150238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098203] [ENSMUST00000214765] [ENSMUST00000216456]

AlphaFold

L7N224

Predicted Effect

SMART Domains

Protein: ENSMUSP00000095804
Gene: ENSMUSG00000073952
AA Change: I17F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	315	2.2e-89	PFAM
Pfam:7TM_GPCR_Srsx	41	312	5.7e-7	PFAM
Pfam:7tm_1	47	297	3e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214765

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	T	C	4: 106,617,390 (GRCm39)	T239A	probably benign	Het
Adgrg7	A	G	16: 56,582,477 (GRCm39)	S258P	probably damaging	Het
Capn10	T	A	1: 92,871,130 (GRCm39)	D313E	probably benign	Het
Caprin2	A	G	6: 148,770,650 (GRCm39)	V448A	probably benign	Het
Casr	A	G	16: 36,330,566 (GRCm39)	V256A	probably benign	Het
Cped1	A	G	6: 22,222,465 (GRCm39)	T742A	possibly damaging	Het
Cyp2c39	G	T	19: 39,525,255 (GRCm39)	R186L	possibly damaging	Het
Dazl	A	T	17: 50,588,294 (GRCm39)	S294T	probably benign	Het
Dnah17	C	A	11: 117,947,855 (GRCm39)	V2982F	probably damaging	Het
Enpp3	C	A	10: 24,702,139 (GRCm39)	C71F	probably damaging	Het
Fam234a	A	G	17: 26,437,149 (GRCm39)	C177R	probably damaging	Het
Fbxl5	A	C	5: 43,925,433 (GRCm39)	Y186D	possibly damaging	Het
Fbxo43	T	C	15: 36,162,494 (GRCm39)	T238A	probably benign	Het
Fcgbp	A	G	7: 27,806,815 (GRCm39)	H2261R	probably benign	Het
Gm20939	C	T	17: 95,183,207 (GRCm39)	H148Y	probably damaging	Het
Gpat4	GTGTT	GT	8: 23,669,498 (GRCm39)		probably benign	Het
Gpr45	C	A	1: 43,071,395 (GRCm39)	H13N	probably benign	Het
Irf4	A	G	13: 30,947,610 (GRCm39)	D438G	probably damaging	Het
Kcnk1	T	C	8: 126,751,964 (GRCm39)	V190A	probably benign	Het
Klre1	A	T	6: 129,557,025 (GRCm39)	K42N	probably damaging	Het
Lmbrd2	C	T	15: 9,178,437 (GRCm39)	T499M	probably damaging	Het
Lrrc14	G	T	15: 76,598,398 (GRCm39)	G345C	probably damaging	Het
Matn2	A	G	15: 34,355,748 (GRCm39)	H251R	possibly damaging	Het
Mpnd	A	G	17: 56,323,568 (GRCm39)	E477G	probably damaging	Het
Muc17	C	T	5: 137,171,179 (GRCm39)	V151I		Het
Nckap5l	A	C	15: 99,325,050 (GRCm39)	C484W	probably damaging	Het
Npas1	C	T	7: 16,195,266 (GRCm39)	S354N	probably damaging	Het
Or1e25	T	C	11: 73,494,261 (GRCm39)	L285P	probably damaging	Het
Or4k2	C	A	14: 50,424,342 (GRCm39)	E112*	probably null	Het
Or52e3	T	C	7: 102,869,399 (GRCm39)	V158A	probably benign	Het
Or5w11	T	C	2: 87,459,197 (GRCm39)	L14P	probably damaging	Het
Or6c65	G	T	10: 129,604,304 (GRCm39)	*313L	probably null	Het
Or8d4	T	A	9: 40,038,360 (GRCm39)	H299L	probably benign	Het
Pabpc6	G	A	17: 9,887,435 (GRCm39)	P372L	probably damaging	Het
Pkd1	A	G	17: 24,791,621 (GRCm39)	N1103D	probably damaging	Het
Prelid2	C	T	18: 42,014,313 (GRCm39)	C171Y	probably benign	Het
R3hcc1	T	C	14: 69,942,890 (GRCm39)	Q229R	probably benign	Het
Rapgef6	T	C	11: 54,578,487 (GRCm39)	V1003A	probably benign	Het
Rbp3	T	A	14: 33,678,156 (GRCm39)	H701Q	possibly damaging	Het
Resf1	A	T	6: 149,229,998 (GRCm39)	T1015S	possibly damaging	Het
Rmdn2	T	C	17: 79,975,459 (GRCm39)		probably null	Het
Robo2	A	T	16: 73,775,382 (GRCm39)	W451R	probably damaging	Het
Sacs	T	A	14: 61,410,655 (GRCm39)	M1K	probably null	Het
Senp2	G	A	16: 21,850,864 (GRCm39)	G294R	probably damaging	Het
Setdb2	T	A	14: 59,650,180 (GRCm39)	H478L	probably benign	Het
Slc12a4	G	T	8: 106,678,451 (GRCm39)	A295E	probably damaging	Het
Slc12a9	C	T	5: 137,319,698 (GRCm39)	V606M	probably damaging	Het
Slc25a30	T	C	14: 76,012,451 (GRCm39)	K66E	probably benign	Het
Slc39a6	T	C	18: 24,732,331 (GRCm39)	E319G	possibly damaging	Het
Sorbs3	T	A	14: 70,422,360 (GRCm39)	T617S	probably benign	Het
Speer4a3	A	T	5: 26,158,076 (GRCm39)	V92E	probably damaging	Het
Spef2	T	G	15: 9,676,615 (GRCm39)	D652A	probably benign	Het
Stag3	T	C	5: 138,295,017 (GRCm39)	M347T	probably damaging	Het
Tecpr2	A	T	12: 110,911,191 (GRCm39)	D1076V	probably damaging	Het
Tor2a	G	A	2: 32,651,648 (GRCm39)	V288I	probably benign	Het
Usp30	C	T	5: 114,259,826 (GRCm39)	R511*	probably null	Het
Vezt	T	C	10: 93,832,704 (GRCm39)	T236A	probably damaging	Het
Zmynd12	A	T	4: 119,305,352 (GRCm39)	D264V	probably damaging	Het

Other mutations in Or52ab2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01864:Or52ab2	APN	7	102,970,541 (GRCm39)	missense	probably benign	0.27
IGL01872:Or52ab2	APN	7	102,970,179 (GRCm39)	missense	probably benign	0.17
IGL02797:Or52ab2	APN	7	102,970,058 (GRCm39)	missense	probably benign
IGL02811:Or52ab2	APN	7	102,970,140 (GRCm39)	missense	probably benign
PIT4131001:Or52ab2	UTSW	7	102,970,076 (GRCm39)	nonsense	probably null
R1800:Or52ab2	UTSW	7	102,969,621 (GRCm39)	start codon destroyed	probably null	0.98
R4921:Or52ab2	UTSW	7	102,969,750 (GRCm39)	missense	probably damaging	1.00
R6288:Or52ab2	UTSW	7	102,970,286 (GRCm39)	missense	probably damaging	0.97
R6993:Or52ab2	UTSW	7	102,969,998 (GRCm39)	unclassified	probably benign
R7043:Or52ab2	UTSW	7	102,970,292 (GRCm39)	unclassified	probably benign
R7322:Or52ab2	UTSW	7	102,970,494 (GRCm39)	missense
R7472:Or52ab2	UTSW	7	102,969,656 (GRCm39)	missense
R7704:Or52ab2	UTSW	7	102,969,978 (GRCm39)	missense
R8418:Or52ab2	UTSW	7	102,970,278 (GRCm39)	missense
R8830:Or52ab2	UTSW	7	102,970,212 (GRCm39)	missense
R8867:Or52ab2	UTSW	7	102,970,449 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- GCCTTTGATGACCAACTGAACAAG -3'
(R):5'- ATGTCTGTACCTGCCAGCAC -3'

Sequencing Primer
(F):5'- TGACCAACTGAACAAGGTCTACTGG -3'
(R):5'- TGCCAGCACAGCCAGGAAG -3'

Posted On

2020-09-02