Mutagenetix > Incidental Mutation

Incidental Mutation 'R8854:Or52ab7'

675179

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

068676-MU

Accession Numbers

Essential gene?

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

Stock #

R8854 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102977695-102978654 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102978023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 110 (I110T)

Ref Sequence

ENSEMBL: ENSMUSP00000149199 (fasta)

Gene Model

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

AlphaFold

Q7TRR2

Predicted Effect

probably damaging
Transcript: ENSMUST00000098202
AA Change: I110T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000100474
Gene: ENSMUSG00000073951
AA Change: I110T

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

probably damaging
Transcript: ENSMUST00000214765
AA Change: I110T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (64/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a1	G	A	19: 20,588,297 (GRCm39)	W29*	probably null	Het
Ankib1	C	A	5: 3,777,489 (GRCm39)	W467L	probably null	Het
Arhgef10	A	G	8: 15,029,798 (GRCm39)		probably null	Het
Arpc1b	C	A	5: 145,060,405 (GRCm39)	R66S	probably benign	Het
Atoh1	A	T	6: 64,706,189 (GRCm39)		probably benign	Het
Bach2	T	A	4: 32,575,263 (GRCm39)	D619E	possibly damaging	Het
Bbs9	T	C	9: 22,490,060 (GRCm39)	I277T	probably damaging	Het
Cadps2	G	A	6: 23,385,507 (GRCm39)	P772S	probably damaging	Het
Cd1d1	T	A	3: 86,905,480 (GRCm39)	D171V	probably damaging	Het
Cfap20dc	A	T	14: 8,518,638 (GRCm38)	S273T	probably damaging	Het
Clca3a2	C	T	3: 144,783,852 (GRCm39)	A588T	possibly damaging	Het
Cps1	A	G	1: 67,200,048 (GRCm39)	K399E	probably damaging	Het
Cpt1a	T	C	19: 3,406,327 (GRCm39)	S98P	probably benign	Het
Cryzl2	A	G	1: 157,286,370 (GRCm39)	K36R	possibly damaging	Het
Cxcl13	T	C	5: 96,104,861 (GRCm39)	L11P	unknown	Het
Dbf4	T	A	5: 8,458,562 (GRCm39)	D151V	probably damaging	Het
Eogt	A	T	6: 97,108,359 (GRCm39)	C227*	probably null	Het
Fermt3	T	A	19: 6,991,310 (GRCm39)	D231V	probably damaging	Het
Il2rb	T	C	15: 78,369,953 (GRCm39)	T229A	probably benign	Het
Ildr1	T	A	16: 36,535,910 (GRCm39)	Y142N	probably damaging	Het
Kcnv2	A	T	19: 27,311,258 (GRCm39)	T542S	probably benign	Het
Kif26b	G	A	1: 178,743,948 (GRCm39)	G1348E	possibly damaging	Het
Lancl1	C	T	1: 67,073,358 (GRCm39)	E42K	possibly damaging	Het
Lrp1	T	A	10: 127,378,968 (GRCm39)	D4010V	probably damaging	Het
Mark2	A	G	19: 7,258,369 (GRCm39)	V640A	probably benign	Het
Megf6	C	T	4: 154,352,469 (GRCm39)	T1276M	probably damaging	Het
Meioc	T	C	11: 102,566,589 (GRCm39)	M735T	probably damaging	Het
Mfsd4b5	C	A	10: 39,846,735 (GRCm39)	V282L	probably damaging	Het
Mlx	T	A	11: 100,981,951 (GRCm39)	V286E		Het
Ms4a18	G	A	19: 10,990,887 (GRCm39)	T69I	probably benign	Het
Muc1	C	T	3: 89,139,412 (GRCm39)	P604L	probably damaging	Het
Net1	G	T	13: 3,934,214 (GRCm39)	D548E	probably benign	Het
Ngly1	T	C	14: 16,281,769 (GRCm38)	S342P	probably damaging	Het
Niban1	A	G	1: 151,584,950 (GRCm39)	K516E	probably damaging	Het
Nipbl	A	T	15: 8,330,210 (GRCm39)	I2405N	probably damaging	Het
Nkx2-1	A	T	12: 56,580,206 (GRCm39)	C245S	probably benign	Het
Or5p76	T	A	7: 108,122,936 (GRCm39)	I74L	probably benign	Het
Pcare	T	C	17: 72,056,326 (GRCm39)	Y1117C	probably benign	Het
Pcdhgb5	C	T	18: 37,865,501 (GRCm39)	T432I	probably benign	Het
Plpp4	T	A	7: 128,909,362 (GRCm39)	L24*	probably null	Het
Pnma8a	T	C	7: 16,695,104 (GRCm39)	S320P	possibly damaging	Het
Sass6	C	A	3: 116,399,384 (GRCm39)	Q93K	possibly damaging	Het
Sirpb1c	T	C	3: 15,887,308 (GRCm39)	N177S	possibly damaging	Het
Slc22a30	A	G	19: 8,363,754 (GRCm39)		probably null	Het
Snd1	A	G	6: 28,526,968 (GRCm39)	H217R	probably benign	Het
Spata31d1c	C	A	13: 65,183,804 (GRCm39)	Q449K	possibly damaging	Het
Spidr	A	G	16: 15,707,630 (GRCm39)	V889A	probably damaging	Het
Suclg2	A	T	6: 95,572,650 (GRCm39)	V105D	probably damaging	Het
Syne1	A	T	10: 5,078,503 (GRCm39)	M974K	probably benign	Het
Tbrg4	A	T	11: 6,566,691 (GRCm39)	D605E	probably benign	Het
Tcn2	A	G	11: 3,876,074 (GRCm39)	F118S	possibly damaging	Het
Tcstv2b	T	A	13: 120,377,825 (GRCm39)		probably benign	Het
Tfap4	T	C	16: 4,367,238 (GRCm39)	H208R	probably benign	Het
Trf	A	G	9: 103,107,529 (GRCm39)		probably benign	Het
Trpc4	A	T	3: 54,102,122 (GRCm39)	K7*	probably null	Het
Uap1	G	T	1: 169,976,984 (GRCm39)	P405Q	probably damaging	Het
Usp33	C	A	3: 152,073,967 (GRCm39)	T271N	probably benign	Het
Usp42	T	C	5: 143,702,632 (GRCm39)	D663G	possibly damaging	Het
Vmn2r10	T	C	5: 109,144,126 (GRCm39)	D608G	probably benign	Het
Wfdc16	G	A	2: 164,480,486 (GRCm39)	P3L	probably benign	Het
Zfp28	T	C	7: 6,397,938 (GRCm39)	I791T	probably benign	Het
Zfp970	A	T	2: 177,165,088 (GRCm39)	T5S	probably damaging	Het
Zfy1	A	T	Y: 726,501 (GRCm39)	H421Q	possibly 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
R8878:Or52ab7	UTSW	7	102,978,212 (GRCm39)	missense	possibly damaging	0.67
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'- ATCATCCCAGCCGAGCATAG -3'
(R):5'- CATGTGTTCACAGTAAGAGTGGG -3'

Sequencing Primer
(F):5'- TCCCAGCCGAGCATAGCTTAC -3'
(R):5'- TTCACAGTAAGAGTGGGCAATTTG -3'

Posted On

2021-07-15