Mutagenetix > Incidental Mutation

Incidental Mutation 'R4227:Or52ab7'

320089

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

041047-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.293) question?

Stock #

R4227 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102977695-102978654 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102978026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 111 (H111L)

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: H111L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000100474
Gene: ENSMUSG00000073951
AA Change: H111L

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: H111L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

Meta Mutation Damage Score

0.6082

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (56/58)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,115,120 (GRCm39)	T609A	probably damaging	Het
Agbl2	T	G	2: 90,631,797 (GRCm39)	L385R	probably damaging	Het
Arfgef2	A	T	2: 166,709,244 (GRCm39)	D1107V	probably damaging	Het
Arhgef5	C	T	6: 43,256,432 (GRCm39)	A1180V	probably damaging	Het
B9d1	C	G	11: 61,403,483 (GRCm39)	R160G	probably damaging	Het
Birc6	T	C	17: 74,926,835 (GRCm39)		probably null	Het
Capn11	A	G	17: 45,953,392 (GRCm39)		probably null	Het
Ceacam12	G	T	7: 17,805,678 (GRCm39)	M288I	probably benign	Het
Cfhr3	T	A	1: 139,536,046 (GRCm39)		noncoding transcript	Het
Copa	A	G	1: 171,945,682 (GRCm39)		probably benign	Het
Cypt4	A	G	9: 24,536,788 (GRCm39)	M93V	probably benign	Het
Fat3	G	A	9: 16,288,989 (GRCm39)	T178I	probably damaging	Het
Gm15931	A	G	7: 4,277,793 (GRCm39)		noncoding transcript	Het
Gm9871	A	G	6: 101,773,654 (GRCm39)		noncoding transcript	Het
Gpsm1	T	C	2: 26,229,638 (GRCm39)		probably benign	Het
Grhl1	A	G	12: 24,661,850 (GRCm39)	T510A	probably benign	Het
Kcnn3	A	C	3: 89,428,482 (GRCm39)	H236P	possibly damaging	Het
Kif21b	T	A	1: 136,081,831 (GRCm39)		probably null	Het
Lcn3	G	T	2: 25,656,123 (GRCm39)	M59I	probably benign	Het
Mrps27	C	G	13: 99,547,848 (GRCm39)	P253A	probably damaging	Het
Mug2	A	T	6: 122,017,691 (GRCm39)	D476V	probably benign	Het
Naca	A	T	10: 127,877,530 (GRCm39)		probably benign	Het
Naip5	A	G	13: 100,349,276 (GRCm39)	S1351P	probably damaging	Het
Odf2	A	G	2: 29,791,296 (GRCm39)		probably benign	Het
Or2a56	A	G	6: 42,932,648 (GRCm39)	Y72C	possibly damaging	Het
Or4g17	A	G	2: 111,209,410 (GRCm39)	K22E	probably benign	Het
Or5w18	T	A	2: 87,633,219 (GRCm39)	I162N	probably damaging	Het
P3h2	G	T	16: 25,924,203 (GRCm39)	D77E	probably benign	Het
Pcbp2	A	G	15: 102,387,066 (GRCm39)	M87V	probably benign	Het
Plekhg6	A	G	6: 125,355,768 (GRCm39)	L12P	probably damaging	Het
Plekhh2	A	G	17: 84,874,223 (GRCm39)	T503A	probably benign	Het
Pnpla3	C	A	15: 84,063,391 (GRCm39)	N256K	probably benign	Het
Polh	A	G	17: 46,483,520 (GRCm39)	S582P	probably benign	Het
Ptprb	T	C	10: 116,138,130 (GRCm39)	Y345H	possibly damaging	Het
Rasl11b	T	A	5: 74,358,852 (GRCm39)	I119N	probably damaging	Het
Rnaseh2a	G	A	8: 85,686,702 (GRCm39)	T149I	possibly damaging	Het
Serpina10	A	G	12: 103,594,674 (GRCm39)	Y182H	probably damaging	Het
Serpina1d	A	G	12: 103,733,740 (GRCm39)	V188A	probably benign	Het
Setd1a	C	A	7: 127,395,819 (GRCm39)		probably benign	Het
Slc17a8	T	C	10: 89,434,575 (GRCm39)	N184S	probably damaging	Het
Spen	C	T	4: 141,249,458 (GRCm39)	S110N	unknown	Het
Tas1r1	T	C	4: 152,112,729 (GRCm39)	I775V	probably damaging	Het
Tktl2	A	G	8: 66,966,351 (GRCm39)		probably null	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Tmprss6	C	T	15: 78,330,899 (GRCm39)	V43M	probably damaging	Het
Try5	A	G	6: 41,290,401 (GRCm39)	Y28H	possibly damaging	Het
Urad	A	T	5: 147,252,100 (GRCm39)	F117L	probably damaging	Het
Vegfc	A	G	8: 54,612,445 (GRCm39)	Y156C	probably damaging	Het
Vmn2r45	A	T	7: 8,486,277 (GRCm39)	V337E	probably damaging	Het
Vmn2r6	A	T	3: 64,445,369 (GRCm39)	F696L	probably damaging	Het
Wnk2	C	T	13: 49,244,313 (GRCm39)	D508N	probably damaging	Het
Zfp131	T	C	13: 120,228,282 (GRCm39)	D455G	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
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
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'- TGTTCACAGTAAGAGTGGGC -3'

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

Posted On

2015-06-12