Mutagenetix > Incidental Mutation

Incidental Mutation 'R6126:Olfr530'

487398

Institutional Source

Beutler Lab

Gene Symbol

Olfr530

Ensembl Gene

ENSMUSG00000060974

Gene Name

olfactory receptor 530

Synonyms

GA_x6K02T2PBJ9-42523824-42522901, MOR252-2

MMRRC Submission

044273-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R6126 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140371872-140376331 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 140373253 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 119 (Y119S)

Ref Sequence

ENSEMBL: ENSMUSP00000149475 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074177] [ENSMUST00000216727]

AlphaFold

Q8VFE8

Predicted Effect

probably damaging
Transcript: ENSMUST00000074177
AA Change: Y119S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000073808
Gene: ENSMUSG00000060974
AA Change: Y119S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	307	4.8e-48	PFAM
Pfam:7TM_GPCR_Srsx	35	304	1.8e-6	PFAM
Pfam:7tm_1	41	289	1.4e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211097

Predicted Effect

probably damaging
Transcript: ENSMUST00000216727
AA Change: Y119S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Meta Mutation Damage Score

0.2012

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

93% (51/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	G	A	3: 90,056,574 (GRCm38)	R111H	probably damaging	Het
Alk	G	A	17: 71,875,042 (GRCm38)	L1329F	possibly damaging	Het
Apoh	A	T	11: 108,397,373 (GRCm38)	I106F	probably damaging	Het
Atp8a2	C	T	14: 60,044,326 (GRCm38)	M126I	probably benign	Het
Cactin	G	A	10: 81,324,309 (GRCm38)	R412H	possibly damaging	Het
Chd7	T	C	4: 8,826,482 (GRCm38)	S949P	probably damaging	Het
Clec11a	C	T	7: 44,304,921 (GRCm38)	A203T	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038 (GRCm38)		probably null	Het
Dst	T	A	1: 34,228,183 (GRCm38)	I5080K	probably damaging	Het
Ecd	T	C	14: 20,338,425 (GRCm38)		probably null	Het
Eml2	G	A	7: 19,201,163 (GRCm38)	V432I	probably damaging	Het
Fan1	T	A	7: 64,364,570 (GRCm38)	K638*	probably null	Het
Fblim1	G	A	4: 141,584,722 (GRCm38)	R231C	probably damaging	Het
Fig4	A	G	10: 41,265,447 (GRCm38)	I272T	probably damaging	Het
Foxd2	C	A	4: 114,908,505 (GRCm38)	G106V	unknown	Het
Ggcx	A	T	6: 72,417,983 (GRCm38)	M115L	possibly damaging	Het
Gm21976	G	A	13: 98,287,313 (GRCm38)	R72H	unknown	Het
Gm906	G	T	13: 50,246,290 (GRCm38)	Q667K	probably benign	Het
Hsf2	T	C	10: 57,495,917 (GRCm38)	V38A	probably damaging	Het
Ifi208	A	G	1: 173,677,708 (GRCm38)	Y8C	possibly damaging	Het
Il31ra	A	C	13: 112,530,374 (GRCm38)	L390R	probably damaging	Het
Kif1a	A	T	1: 93,019,899 (GRCm38)	Y1614N	probably damaging	Het
Mef2b	C	A	8: 70,166,876 (GRCm38)	T267K	probably benign	Het
Mfsd8	A	G	3: 40,832,011 (GRCm38)		probably null	Het
Mnx1	G	T	5: 29,478,112 (GRCm38)	A55E	possibly damaging	Het
Muc5ac	A	T	7: 141,801,232 (GRCm38)	I949F	possibly damaging	Het
Muc6	G	T	7: 141,638,772 (GRCm38)	T1996N	possibly damaging	Het
Ntpcr	G	A	8: 125,735,887 (GRCm38)		probably null	Het
Otx1	T	C	11: 21,996,457 (GRCm38)		probably benign	Het
Panx1	T	A	9: 15,007,790 (GRCm38)	I258F	probably benign	Het
Pask	T	C	1: 93,314,359 (GRCm38)	Y1212C	probably damaging	Het
Pdgfra	A	G	5: 75,170,529 (GRCm38)	K265R	probably benign	Het
Phf20l1	A	G	15: 66,636,824 (GRCm38)	H844R	probably benign	Het
Ppp6r1	T	C	7: 4,643,377 (GRCm38)	T136A	possibly damaging	Het
Rab35	A	G	5: 115,645,708 (GRCm38)	N185D	probably benign	Het
Rdh1	A	T	10: 127,763,214 (GRCm38)	D188V	probably damaging	Het
Rimbp3	A	T	16: 17,212,276 (GRCm38)	D1188V	probably benign	Het
Robo2	C	T	16: 73,920,682 (GRCm38)	G100S	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904 (GRCm38)		probably benign	Het
Ryr1	A	C	7: 29,076,239 (GRCm38)	D2282E	probably null	Het
Ryr3	A	G	2: 112,757,670 (GRCm38)	L2642P	probably damaging	Het
Sez6	A	T	11: 77,973,804 (GRCm38)	Y530F	probably damaging	Het
Slc12a2	A	G	18: 57,944,044 (GRCm38)	Y1205C	possibly damaging	Het
Slc4a5	A	T	6: 83,226,265 (GRCm38)	H49L	probably benign	Het
Smchd1	A	T	17: 71,370,285 (GRCm38)	V1503D	probably damaging	Het
Srsf11	C	T	3: 158,023,344 (GRCm38)		probably benign	Het
Tex15	A	G	8: 33,573,563 (GRCm38)	N1007S	probably benign	Het
Tpk1	A	T	6: 43,423,660 (GRCm38)	C143S	probably damaging	Het
Wdr20	A	T	12: 110,794,102 (GRCm38)	H474L	probably benign	Het
Wnk4	A	G	11: 101,276,348 (GRCm38)		probably benign	Het
Zfp292	T	C	4: 34,808,497 (GRCm38)	T1516A	probably benign	Het
Zfp462	G	A	4: 55,023,573 (GRCm38)	A2121T	probably benign	Het
Zfp647	G	A	15: 76,912,085 (GRCm38)	P125L	probably damaging	Het

Other mutations in Olfr530

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01071:Olfr530	APN	7	140,373,185 (GRCm38)	missense	probably benign	0.01
IGL01785:Olfr530	APN	7	140,373,125 (GRCm38)	missense	probably benign
IGL01786:Olfr530	APN	7	140,373,125 (GRCm38)	missense	probably benign
IGL03087:Olfr530	APN	7	140,373,092 (GRCm38)	missense	probably damaging	1.00
R0543:Olfr530	UTSW	7	140,373,394 (GRCm38)	missense	probably benign	0.07
R0634:Olfr530	UTSW	7	140,373,397 (GRCm38)	missense	possibly damaging	0.88
R1470:Olfr530	UTSW	7	140,373,113 (GRCm38)	missense	probably benign	0.03
R1470:Olfr530	UTSW	7	140,373,113 (GRCm38)	missense	probably benign	0.03
R1553:Olfr530	UTSW	7	140,373,038 (GRCm38)	missense	probably damaging	1.00
R1702:Olfr530	UTSW	7	140,372,742 (GRCm38)	nonsense	probably null
R1767:Olfr530	UTSW	7	140,373,476 (GRCm38)	missense	possibly damaging	0.95
R2379:Olfr530	UTSW	7	140,372,835 (GRCm38)	nonsense	probably null
R4243:Olfr530	UTSW	7	140,372,944 (GRCm38)	missense	probably benign	0.01
R4281:Olfr530	UTSW	7	140,373,472 (GRCm38)	missense	probably benign	0.10
R4717:Olfr530	UTSW	7	140,373,415 (GRCm38)	missense	probably damaging	0.99
R4923:Olfr530	UTSW	7	140,373,007 (GRCm38)	missense	probably benign	0.11
R5763:Olfr530	UTSW	7	140,373,655 (GRCm38)	critical splice acceptor site	probably null
R6528:Olfr530	UTSW	7	140,373,441 (GRCm38)	missense	possibly damaging	0.81
R7469:Olfr530	UTSW	7	140,373,137 (GRCm38)	missense	possibly damaging	0.93
R8081:Olfr530	UTSW	7	140,373,059 (GRCm38)	missense	probably damaging	1.00
R8881:Olfr530	UTSW	7	140,372,785 (GRCm38)	missense	probably benign	0.01
R8922:Olfr530	UTSW	7	140,373,476 (GRCm38)	missense	possibly damaging	0.88
R9161:Olfr530	UTSW	7	140,373,076 (GRCm38)	missense	probably damaging	1.00
R9389:Olfr530	UTSW	7	140,373,017 (GRCm38)	missense	probably benign	0.02
Z1177:Olfr530	UTSW	7	140,372,803 (GRCm38)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- GTGTGATGAGATTGGGACCAC -3'
(R):5'- AATGGCCTGATCATCGCAAC -3'

Sequencing Primer
(F):5'- TTGGGACCACAGAAAGACAATG -3'
(R):5'- GCCTGATCATCGCAACCATCC -3'

Posted On

2017-10-10