Mutagenetix > Incidental Mutation

Incidental Mutation 'R8878:Or52ab7'

676694

Institutional Source

Beutler Lab

Gene Symbol

Or52ab7

Ensembl Gene

ENSMUSG00000073951

Gene Name

olfactory receptor family 52 subfamily AB member 7

Synonyms

MOR23-4P, GA_x6K02T2PBJ9-6037823-6038782, MOR23-5, Olfr598

MMRRC Submission

068746-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

R8878 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102977695-102978654 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102978212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 173 (H173L)

Ref Sequence

ENSEMBL: ENSMUSP00000149199 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098202] [ENSMUST00000214765]

AlphaFold

Q7TRR2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098202
AA Change: H173L

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000100474
Gene: ENSMUSG00000073951
AA Change: H173L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	315	2.3e-89	PFAM
Pfam:7TM_GPCR_Srsx	41	312	9e-7	PFAM
Pfam:7tm_1	47	297	2e-15	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214765
AA Change: H173L

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (73/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	C	A	2: 155,398,324 (GRCm39)	H348Q	probably benign	Het
Ago1	T	A	4: 126,357,516 (GRCm39)	Y53F	probably benign	Het
Arrdc5	A	G	17: 56,601,342 (GRCm39)	L261P	probably benign	Het
Asb2	C	A	12: 103,290,138 (GRCm39)	W551L	possibly damaging	Het
Atl2	T	C	17: 80,160,232 (GRCm39)	I452V	probably benign	Het
Atxn7l3	T	C	11: 102,183,545 (GRCm39)	S203G	probably benign	Het
Bche	A	G	3: 73,608,506 (GRCm39)	F307L	probably benign	Het
C6	T	C	15: 4,826,454 (GRCm39)	V679A	probably benign	Het
Cd163	A	T	6: 124,297,469 (GRCm39)	N872Y	probably damaging	Het
Cdkal1	C	A	13: 29,658,607 (GRCm39)	V380F	probably damaging	Het
Ceacam11	A	T	7: 17,709,536 (GRCm39)	I245L	probably benign	Het
Ceacam16	G	T	7: 19,592,656 (GRCm39)	T84K	possibly damaging	Het
Ceacam2	T	A	7: 25,227,351 (GRCm39)	Q172L	probably benign	Het
Chga	T	G	12: 102,527,720 (GRCm39)	S125A	possibly damaging	Het
Col9a1	T	C	1: 24,236,048 (GRCm39)		probably null	Het
Crybg3	C	A	16: 59,380,547 (GRCm39)	A236S	probably benign	Het
Csmd1	A	G	8: 15,960,528 (GRCm39)	Y3296H	probably damaging	Het
Cyp2j8	C	A	4: 96,358,807 (GRCm39)	V371L	possibly damaging	Het
Des	C	A	1: 75,337,137 (GRCm39)	L26M	unknown	Het
Edc3	A	G	9: 57,623,484 (GRCm39)	S140G	possibly damaging	Het
Fam161a	C	T	11: 22,970,092 (GRCm39)	T90I	probably benign	Het
Fancm	T	C	12: 65,173,522 (GRCm39)	Y1945H	probably damaging	Het
Fbn2	C	T	18: 58,257,318 (GRCm39)	V350I	probably benign	Het
Git2	A	G	5: 114,899,649 (GRCm39)	C235R	possibly damaging	Het
Gk2	T	C	5: 97,604,341 (GRCm39)	K166E	probably benign	Het
Gm12258	G	A	11: 58,750,112 (GRCm39)	R429H	unknown	Het
Gm7247	T	G	14: 51,666,210 (GRCm39)		probably benign	Het
Gmppa	A	G	1: 75,414,932 (GRCm39)	Y59C	probably damaging	Het
Has1	G	T	17: 18,070,321 (GRCm39)	A200E	possibly damaging	Het
Hbs1l	T	C	10: 21,234,711 (GRCm39)	I588T	possibly damaging	Het
Helz2	A	G	2: 180,874,560 (GRCm39)	V1978A	possibly damaging	Het
Hoxb9	T	C	11: 96,165,557 (GRCm39)	Y209H	probably damaging	Het
Hps5	T	C	7: 46,421,345 (GRCm39)	D706G	probably benign	Het
Hydin	T	C	8: 111,035,720 (GRCm39)	V137A	probably benign	Het
Ifngr2	T	C	16: 91,359,847 (GRCm39)	I318T	probably benign	Het
Iqgap3	C	T	3: 88,020,532 (GRCm39)	T1290I	probably damaging	Het
Jrk	A	T	15: 74,578,988 (GRCm39)	V99E	probably benign	Het
Kalrn	G	A	16: 34,018,830 (GRCm39)	P1311S	probably benign	Het
Kalrn	G	A	16: 34,025,696 (GRCm39)	T931M	probably damaging	Het
Kirrel3	A	G	9: 34,850,561 (GRCm39)		probably benign	Het
Klk1b9	T	C	7: 43,443,782 (GRCm39)	F99L	possibly damaging	Het
Lamb3	T	C	1: 193,013,124 (GRCm39)	C450R	probably damaging	Het
Lyst	T	A	13: 13,815,661 (GRCm39)	S1182T	probably benign	Het
Map1a	T	C	2: 121,138,125 (GRCm39)	V2933A	probably damaging	Het
Map2k5	A	T	9: 63,250,667 (GRCm39)		probably null	Het
Mcm6	A	G	1: 128,283,248 (GRCm39)		probably null	Het
Mmp17	G	A	5: 129,683,378 (GRCm39)	V505M	probably damaging	Het
Mpped2	A	G	2: 106,575,065 (GRCm39)	D50G	probably damaging	Het
Mtf1	T	A	4: 124,715,023 (GRCm39)	L216*	probably null	Het
Niban2	A	T	2: 32,811,105 (GRCm39)	M372L	probably benign	Het
Obscn	T	C	11: 58,890,638 (GRCm39)	E7298G	unknown	Het
Or56a3	T	C	7: 104,735,763 (GRCm39)	L280P	probably damaging	Het
Or6c205	T	C	10: 129,086,883 (GRCm39)	L160P	probably benign	Het
Or7d9	A	G	9: 20,197,358 (GRCm39)	D129G	probably damaging	Het
Otulinl	T	A	15: 27,664,884 (GRCm39)	H24L	probably benign	Het
Pax2	G	A	19: 44,777,215 (GRCm39)		probably null	Het
Pcnt	T	A	10: 76,244,675 (GRCm39)	E1135V	probably damaging	Het
Pgap3	A	T	11: 98,281,924 (GRCm39)	V129D	probably benign	Het
Polq	A	G	16: 36,860,869 (GRCm39)	N497S	probably benign	Het
Ppfia4	T	C	1: 134,227,122 (GRCm39)	T1138A		Het
Prickle4	A	G	17: 48,001,587 (GRCm39)	L32P		Het
Prl2c2	C	T	13: 13,171,896 (GRCm39)	G158R	probably damaging	Het
Psd3	A	G	8: 68,210,750 (GRCm39)	I752T	probably benign	Het
Sag	A	T	1: 87,756,158 (GRCm39)	Y255F	probably benign	Het
Scn7a	A	T	2: 66,506,199 (GRCm39)	D1563E	probably damaging	Het
Secisbp2	A	G	13: 51,837,404 (GRCm39)	N855S	probably benign	Het
Setd2	T	C	9: 110,421,467 (GRCm39)	V2011A	probably benign	Het
Slc30a6	T	C	17: 74,730,112 (GRCm39)	V334A	probably damaging	Het
Spen	A	G	4: 141,204,520 (GRCm39)	V1369A	unknown	Het
Stac2	T	C	11: 97,932,373 (GRCm39)	T207A	probably benign	Het
Syne2	T	C	12: 75,952,067 (GRCm39)	V445A	probably benign	Het
Tas2r131	C	A	6: 132,934,467 (GRCm39)	W114L	probably damaging	Het
Tgfbrap1	G	A	1: 43,088,959 (GRCm39)	R815*	probably null	Het
Trpv2	A	T	11: 62,481,112 (GRCm39)	I404L	probably benign	Het
Zfp236	G	A	18: 82,617,122 (GRCm39)	T1791M	probably damaging	Het

Other mutations in Or52ab7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00955:Or52ab7	APN	7	102,978,528 (GRCm39)	missense	probably damaging	1.00
IGL01911:Or52ab7	APN	7	102,978,480 (GRCm39)	missense	probably benign	0.30
IGL02225:Or52ab7	APN	7	102,978,373 (GRCm39)	missense	probably damaging	1.00
IGL02687:Or52ab7	APN	7	102,978,607 (GRCm39)	nonsense	probably null
IGL03214:Or52ab7	APN	7	102,977,873 (GRCm39)	missense	possibly damaging	0.95
R0544:Or52ab7	UTSW	7	102,977,858 (GRCm39)	missense	probably damaging	1.00
R0555:Or52ab7	UTSW	7	102,978,170 (GRCm39)	missense	probably benign
R1081:Or52ab7	UTSW	7	102,978,245 (GRCm39)	missense	probably damaging	1.00
R1802:Or52ab7	UTSW	7	102,977,854 (GRCm39)	missense	probably benign	0.09
R2092:Or52ab7	UTSW	7	102,978,316 (GRCm39)	missense	probably damaging	1.00
R2197:Or52ab7	UTSW	7	102,977,831 (GRCm39)	nonsense	probably null
R3974:Or52ab7	UTSW	7	102,978,285 (GRCm39)	missense	probably damaging	0.98
R4227:Or52ab7	UTSW	7	102,978,026 (GRCm39)	missense	probably damaging	0.97
R4809:Or52ab7	UTSW	7	102,977,730 (GRCm39)	nonsense	probably null
R4977:Or52ab7	UTSW	7	102,978,040 (GRCm39)	missense	probably benign	0.00
R5324:Or52ab7	UTSW	7	102,978,257 (GRCm39)	missense	probably damaging	1.00
R5478:Or52ab7	UTSW	7	102,978,032 (GRCm39)	missense	probably damaging	1.00
R6238:Or52ab7	UTSW	7	102,978,115 (GRCm39)	missense	possibly damaging	0.95
R6797:Or52ab7	UTSW	7	102,978,328 (GRCm39)	missense	probably benign
R7062:Or52ab7	UTSW	7	102,978,293 (GRCm39)	missense	probably benign	0.10
R7079:Or52ab7	UTSW	7	102,978,391 (GRCm39)	missense	probably benign	0.00
R7539:Or52ab7	UTSW	7	102,977,701 (GRCm39)	missense	probably benign	0.01
R8669:Or52ab7	UTSW	7	102,978,281 (GRCm39)	missense	probably benign	0.00
R8854:Or52ab7	UTSW	7	102,978,023 (GRCm39)	missense	probably damaging	0.98
R9297:Or52ab7	UTSW	7	102,978,583 (GRCm39)	missense	probably damaging	1.00
R9318:Or52ab7	UTSW	7	102,978,583 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGGAGTCCGGCATTCTGTTG -3'
(R):5'- AGCTGTGCAGGTGTTAAAGGC -3'

Sequencing Primer
(F):5'- GGCAATGGCTTTTGATCGATAC -3'
(R):5'- CCTCCTTCTGTTTAAGGCGAAAAAC -3'

Posted On

2021-07-15