Mutagenetix > Incidental Mutation

Incidental Mutation 'R3177:Olfr552'

476046

Institutional Source

Beutler Lab

Gene Symbol

Olfr552

Ensembl Gene

ENSMUSG00000073973

Gene Name

olfactory receptor 552

Synonyms

GA_x6K02T2PBJ9-5323062-5324015, MOR28-1

MMRRC Submission

040615-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R3177 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102597770-102608125 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102604576 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 74 (V74A)

Ref Sequence

ENSEMBL: ENSMUSP00000150317 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098223] [ENSMUST00000215712]

AlphaFold

E9Q545

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098223
AA Change: V74A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000095826
Gene: ENSMUSG00000073973
AA Change: V74A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	6e-118	PFAM
Pfam:7TM_GPCR_Srsx	37	270	4.4e-8	PFAM
Pfam:7tm_1	43	294	9.6e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215712
AA Change: V74A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

100% (21/21)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,472,100	R553G	possibly damaging	Het
Adarb2	A	G	13: 8,752,627	N646S	probably damaging	Het
Adcy8	C	T	15: 64,699,159	G1242S	probably benign	Het
Ano9	T	A	7: 141,104,124	T543S	probably damaging	Het
Btnl10	A	G	11: 58,922,390	K282E	probably benign	Het
Btnl9	T	C	11: 49,169,676	D330G	probably damaging	Het
Ccdc178	G	T	18: 22,067,652	A416E	possibly damaging	Het
Cdx2	A	T	5: 147,303,192	S225T	probably benign	Het
Clca4b	T	C	3: 144,911,359	I843M	probably benign	Het
Cntn4	G	A	6: 106,437,964		probably null	Het
Cyb561	T	C	11: 105,935,787		probably benign	Het
Cyp4f18	T	C	8: 71,993,200	D317G	possibly damaging	Het
Dennd4a	G	T	9: 64,888,993	R767L	probably damaging	Het
Dgkb	G	A	12: 38,084,217	V41M	probably damaging	Het
Duox1	T	C	2: 122,340,116	Y1206H	probably damaging	Het
Dync1i1	T	C	6: 5,972,211		probably null	Het
Fbxw2	T	C	2: 34,822,750	T100A	probably benign	Het
Fcgbp	C	A	7: 28,091,661	H782Q	probably damaging	Het
Flg2	A	T	3: 93,214,888	Q1455L	unknown	Het
Frrs1	T	C	3: 116,899,224	F49S	probably damaging	Het
Gli3	A	T	13: 15,725,982	Q1318L	probably benign	Het
Gm5581	C	G	6: 131,166,965		noncoding transcript	Het
Gm5592	A	G	7: 41,288,380	E362G	probably benign	Het
Gm7104	A	T	12: 88,285,728		noncoding transcript	Het
Gpatch2l	A	G	12: 86,244,315	T91A	possibly damaging	Het
Hacd4	T	C	4: 88,437,510	H46R	probably damaging	Het
Hao2	T	C	3: 98,880,328		probably benign	Het
Herc2	T	C	7: 56,153,428	V2175A	probably benign	Het
Hey1	T	C	3: 8,664,891	S169G	probably benign	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Hlf	T	C	11: 90,345,835	K199E	probably damaging	Het
Hpgd	C	A	8: 56,298,413	A92E	probably damaging	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Itgad	C	A	7: 128,190,981	H651N	possibly damaging	Het
Itgav	A	G	2: 83,776,542	D409G	probably damaging	Het
Kif2a	A	G	13: 106,976,756	I455T	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lamc3	G	T	2: 31,908,625	G448C	probably damaging	Het
Ltbp1	G	A	17: 75,276,480	G425D	possibly damaging	Het
Ltbp1	T	A	17: 75,359,278		probably null	Het
Mag	C	T	7: 30,901,648		probably null	Het
Mdh1b	G	A	1: 63,711,531	T426M	possibly damaging	Het
Nr1h4	G	A	10: 89,478,788	T282I	possibly damaging	Het
Nsf	C	T	11: 103,930,752	E26K	possibly damaging	Het
Olfr1231	C	T	2: 89,303,218	V125M	possibly damaging	Het
Olfr1412	A	G	1: 92,588,813	N161S	probably benign	Het
Padi6	A	G	4: 140,735,389	L307P	probably damaging	Het
Parp9	T	C	16: 35,948,208	S20P	probably damaging	Het
Pdcd11	T	C	19: 47,113,264	F963L	probably damaging	Het
Pwp1	C	T	10: 85,882,079	L294F	probably benign	Het
Radil	A	G	5: 142,506,856	L339P	probably damaging	Het
Raver1	G	A	9: 21,079,277	P316S	possibly damaging	Het
Rell1	A	G	5: 63,926,987		probably null	Het
Rxrg	A	G	1: 167,635,700	D257G	possibly damaging	Het
Sema4c	C	T	1: 36,549,879	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,996,601	R171W	probably damaging	Het
Spata7	A	G	12: 98,637,598	N75D	possibly damaging	Het
Ttc23l	A	G	15: 10,547,232	F99L	possibly damaging	Het
Unc13a	A	C	8: 71,629,695	C1642G	probably benign	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Wrn	A	G	8: 33,317,554	M292T	probably damaging	Het
Zfp423	A	G	8: 87,782,331	Y462H	probably damaging	Het
Zscan5b	T	A	7: 6,231,346	Y124N	possibly damaging	Het
Zswim9	T	C	7: 13,277,270	T51A	possibly damaging	Het

Other mutations in Olfr552

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00937:Olfr552	APN	7	102604357	start codon destroyed	probably null	0.99
IGL03061:Olfr552	APN	7	102604739	missense	probably damaging	0.99
R0989:Olfr552	UTSW	7	102604483	missense	probably damaging	1.00
R1513:Olfr552	UTSW	7	102605302	missense	probably benign	0.09
R1969:Olfr552	UTSW	7	102604570	missense	probably damaging	0.99
R3277:Olfr552	UTSW	7	102604576	missense	possibly damaging	0.94
R4019:Olfr552	UTSW	7	102604642	missense	probably damaging	1.00
R4028:Olfr552	UTSW	7	102605293	missense	possibly damaging	0.62
R5216:Olfr552	UTSW	7	102604821	missense	probably benign	0.00
R5444:Olfr552	UTSW	7	102604869	nonsense	probably null
R5461:Olfr552	UTSW	7	102604408	missense	probably damaging	0.99
R7706:Olfr552	UTSW	7	102604646	missense	probably benign	0.12
R8348:Olfr552	UTSW	7	102605000	missense	probably benign	0.01
R8448:Olfr552	UTSW	7	102605000	missense	probably benign	0.01
R8919:Olfr552	UTSW	7	102604504	missense	probably damaging	1.00
R8933:Olfr552	UTSW	7	102604430	missense	probably damaging	1.00
R9009:Olfr552	UTSW	7	102604435	missense	probably benign	0.00
R9139:Olfr552	UTSW	7	102604978	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-05-11