Mutagenetix > Incidental Mutation

Incidental Mutation 'R5478:Or52ab7'

434161

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

043039-MU

Accession Numbers

Essential gene?

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

Stock #

R5478 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102977695-102978654 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102978032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 113 (L113P)

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: L113P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000100474
Gene: ENSMUSG00000073951
AA Change: L113P

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: L113P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.4%
3x: 97.4%
10x: 95.4%
20x: 91.6%

Validation Efficiency

98% (63/64)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	C	19: 43,827,904 (GRCm39)		probably benign	Het
Adamts2	T	C	11: 50,683,478 (GRCm39)	V920A	possibly damaging	Het
Alpk1	A	G	3: 127,471,368 (GRCm39)	V1038A	probably damaging	Het
Amotl1	A	G	9: 14,504,048 (GRCm39)		probably null	Het
Apba2	T	A	7: 64,344,934 (GRCm39)	Y41*	probably null	Het
BC048562	G	A	9: 108,322,363 (GRCm39)		probably benign	Het
Braf	A	G	6: 39,654,508 (GRCm39)	L86P	possibly damaging	Het
Capn3	A	G	2: 120,294,666 (GRCm39)		probably null	Het
Carmil1	T	C	13: 24,296,028 (GRCm39)	D371G	probably damaging	Het
Cdhr4	G	A	9: 107,872,790 (GRCm39)	V280I	possibly damaging	Het
Cdkl2	T	A	5: 92,187,108 (GRCm39)	K53*	probably null	Het
Chl1	A	T	6: 103,660,182 (GRCm39)	E353D	probably damaging	Het
Col4a2	T	A	8: 11,448,697 (GRCm39)	N72K	probably benign	Het
Comtd1	A	T	14: 21,898,981 (GRCm39)		probably benign	Het
Ctsm	A	T	13: 61,685,543 (GRCm39)	S290T	probably benign	Het
Defa35	A	T	8: 21,555,836 (GRCm39)	Y65F	probably benign	Het
Dock8	T	A	19: 25,057,186 (GRCm39)	C198S	probably benign	Het
Epha3	A	C	16: 63,403,896 (GRCm39)	M734R	probably damaging	Het
Fastkd2	T	C	1: 63,778,345 (GRCm39)	I406T	probably benign	Het
Fshr	C	T	17: 89,309,143 (GRCm39)	V222I	probably benign	Het
Gm16686	A	T	4: 88,673,714 (GRCm39)		probably benign	Het
Gm4922	T	C	10: 18,659,885 (GRCm39)	E279G	probably benign	Het
Gm5709	A	T	3: 59,543,095 (GRCm39)		noncoding transcript	Het
Grin3a	C	A	4: 49,792,481 (GRCm39)	M417I	probably benign	Het
Hnf4a	A	T	2: 163,410,926 (GRCm39)	M408L	probably benign	Het
Idh1	A	T	1: 65,200,997 (GRCm39)	M318K	probably benign	Het
Krt222	A	G	11: 99,125,774 (GRCm39)	S286P	probably damaging	Het
Mmrn2	A	T	14: 34,118,539 (GRCm39)	T142S	probably benign	Het
Myocd	G	T	11: 65,123,914 (GRCm39)		probably null	Het
Ncam2	C	T	16: 81,231,766 (GRCm39)	R77*	probably null	Het
Or5h17	A	T	16: 58,820,425 (GRCm39)	I126L	possibly damaging	Het
Pcdhgc4	C	T	18: 37,950,375 (GRCm39)	T597M	probably damaging	Het
Pdrg1	A	G	2: 152,857,152 (GRCm39)		probably benign	Het
Per2	T	A	1: 91,360,590 (GRCm39)	I521F	probably benign	Het
Pkhd1	G	A	1: 20,271,380 (GRCm39)	L3058F	probably damaging	Het
Plaat5	A	C	19: 7,592,036 (GRCm39)		probably benign	Het
Pnliprp1	A	T	19: 58,723,423 (GRCm39)		probably null	Het
Ppargc1b	T	A	18: 61,440,639 (GRCm39)	M744L	probably benign	Het
Prpf18	A	T	2: 4,643,705 (GRCm39)	N155K	probably benign	Het
Pum1	T	A	4: 130,478,795 (GRCm39)	N472K	possibly damaging	Het
Reln	A	T	5: 22,209,201 (GRCm39)	S1126T	probably benign	Het
Rnase11	A	G	14: 51,287,332 (GRCm39)	L74P	probably damaging	Het
Slc25a23	T	A	17: 57,359,780 (GRCm39)	I324F	probably damaging	Het
Slc26a10	C	A	10: 127,009,818 (GRCm39)	R576L	probably benign	Het
Slc4a1	T	A	11: 102,241,140 (GRCm39)	E921D	probably damaging	Het
Slc9c1	A	T	16: 45,374,609 (GRCm39)	M296L	probably damaging	Het
Sos1	T	C	17: 80,741,276 (GRCm39)	D503G	probably damaging	Het
Srpk2	G	A	5: 23,729,181 (GRCm39)	T486I	possibly damaging	Het
Sult6b1	A	T	17: 79,202,101 (GRCm39)		probably null	Het
Tbc1d16	T	C	11: 119,045,917 (GRCm39)	E509G	probably benign	Het
Tktl2	T	C	8: 66,966,050 (GRCm39)	V536A	probably damaging	Het
Ugt2b36	A	T	5: 87,237,341 (GRCm39)	V188D	probably damaging	Het
Veph1	T	C	3: 66,162,443 (GRCm39)	T72A	probably damaging	Het
Vmn2r73	A	T	7: 85,518,996 (GRCm39)	I542N	probably damaging	Het
Vps13d	G	A	4: 144,894,120 (GRCm39)	P480S	probably damaging	Het
Zfp319	A	G	8: 96,052,193 (GRCm39)		probably benign	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
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
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'- AGCCGAGCATAGCTTACACC -3'
(R):5'- AGCCATGTGTTCACAGTAAGAGTG -3'

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

Posted On

2016-10-06