Mutagenetix > Incidental Mutation

Incidental Mutation 'R7566:Or2z2'

585464

Institutional Source

Beutler Lab

Gene Symbol

Or2z2

Ensembl Gene

ENSMUSG00000043314

Gene Name

olfactory receptor family 2 subfamily Z member 2

Synonyms

MOR281-1, MTPCR07, GA_x6K02T2NKPP-957001-957948, Olfr30

MMRRC Submission

045628-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R7566 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58345741-58346806 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 58346489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 95 (F95L)

Ref Sequence

ENSEMBL: ENSMUSP00000148907 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055204] [ENSMUST00000064614] [ENSMUST00000215691]

AlphaFold

Q8VGD8

Predicted Effect

probably benign
Transcript: ENSMUST00000055204
AA Change: F95L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000055961
Gene: ENSMUSG00000043314
AA Change: F95L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	1.9e-53	PFAM
Pfam:7TM_GPCR_Srsx	36	252	1.7e-6	PFAM
Pfam:7tm_1	42	291	8.3e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000064614

SMART Domains

Protein: ENSMUSP00000063665
Gene: ENSMUSG00000052642

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:UPAR_LY6	47	124	1.3e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215691
AA Change: F95L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (57/57)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	T	G	1: 12,021,252 (GRCm39)	S420R	probably damaging	Het
Acat2	C	T	17: 13,166,346 (GRCm39)	D219N	probably damaging	Het
Anapc10	G	A	8: 80,446,308 (GRCm39)	R46Q	possibly damaging	Het
Ankub1	G	A	3: 57,573,039 (GRCm39)	R228*	probably null	Het
Arhgap21	T	C	2: 20,917,102 (GRCm39)	N91S	probably benign	Het
Arhgap32	T	A	9: 32,162,018 (GRCm39)	V323D	probably benign	Het
Bcas1	C	T	2: 170,212,369 (GRCm39)		probably null	Het
Cd109	C	T	9: 78,588,119 (GRCm39)	P716S	probably damaging	Het
Chd4	C	T	6: 125,078,866 (GRCm39)	P267L	possibly damaging	Het
Cpne7	G	T	8: 123,860,552 (GRCm39)	V502F	probably damaging	Het
Cracd	G	A	5: 77,014,122 (GRCm39)		probably null	Het
Dlgap4	C	T	2: 156,604,657 (GRCm39)	A921V	probably benign	Het
Faap24	G	T	7: 35,092,465 (GRCm39)	R151S	probably benign	Het
Fam98a	A	G	17: 75,854,657 (GRCm39)	S51P	probably damaging	Het
Fbxl8	A	G	8: 105,994,938 (GRCm39)	D150G	possibly damaging	Het
Fut10	A	G	8: 31,749,950 (GRCm39)	K412R	probably benign	Het
G0s2	T	C	1: 192,955,076 (GRCm39)	S3G	probably benign	Het
Gm1527	T	C	3: 28,974,767 (GRCm39)	Y527H	probably benign	Het
Gsdmc3	T	C	15: 63,733,510 (GRCm39)	K227R	possibly damaging	Het
Gtf2ird2	A	G	5: 134,242,848 (GRCm39)	Y354C	probably damaging	Het
Hmcn2	T	A	2: 31,344,869 (GRCm39)	N4685K	probably damaging	Het
Itgad	A	T	7: 127,791,279 (GRCm39)	Y717F	probably benign	Het
Kcnh5	C	T	12: 75,161,166 (GRCm39)	W247*	probably null	Het
Kcnt1	C	A	2: 25,806,048 (GRCm39)	S1212R	probably benign	Het
Kirrel1	A	G	3: 86,995,791 (GRCm39)	V381A	probably damaging	Het
Loxl1	T	A	9: 58,219,481 (GRCm39)	Q230L	probably damaging	Het
Magi1	T	C	6: 93,655,308 (GRCm39)	E1446G	probably benign	Het
Man1a	A	G	10: 53,795,330 (GRCm39)	V550A	possibly damaging	Het
Mgat4d	T	C	8: 84,084,652 (GRCm39)	S132P	probably damaging	Het
Muc16	T	A	9: 18,549,925 (GRCm39)	H5456L	probably benign	Het
Nhsl1	A	G	10: 18,391,867 (GRCm39)	K207R	probably damaging	Het
Nlrp4a	A	C	7: 26,148,670 (GRCm39)		probably null	Het
Nr6a1	T	C	2: 38,621,085 (GRCm39)	M407V	possibly damaging	Het
Or13c7b	A	G	4: 43,820,711 (GRCm39)	S217P	probably damaging	Het
Or2b2b	T	G	13: 21,858,737 (GRCm39)	I126L	possibly damaging	Het
Or6c206	T	C	10: 129,097,469 (GRCm39)	I213T	probably damaging	Het
Ovgp1	A	G	3: 105,881,626 (GRCm39)		probably benign	Het
Ovol3	G	T	7: 29,933,791 (GRCm39)	F110L	probably damaging	Het
Pcsk5	T	C	19: 17,549,821 (GRCm39)	T724A	probably benign	Het
Phtf2	G	T	5: 20,970,799 (GRCm39)	T653N	probably damaging	Het
Plch1	A	T	3: 63,688,663 (GRCm39)		probably null	Het
Prkce	A	T	17: 86,800,757 (GRCm39)	E391V	probably benign	Het
Prob1	A	G	18: 35,788,038 (GRCm39)	V72A	probably benign	Het
Prrc2b	C	A	2: 32,084,402 (GRCm39)	P289Q	probably benign	Het
Ptbp3	A	T	4: 59,514,280 (GRCm39)	N114K	probably benign	Het
Rho	T	A	6: 115,909,135 (GRCm39)	L57H	probably damaging	Het
Slc44a5	A	C	3: 153,975,626 (GRCm39)	D679A	probably damaging	Het
Slit2	A	T	5: 48,407,239 (GRCm39)	D898V	probably damaging	Het
Spag16	C	T	1: 69,909,487 (GRCm39)	R195C	probably damaging	Het
Tmprss11a	T	G	5: 86,591,993 (GRCm39)	D60A	possibly damaging	Het
Ttn	T	A	2: 76,565,293 (GRCm39)	R28311S	probably damaging	Het
Wfikkn1	T	C	17: 26,097,352 (GRCm39)	D324G	probably damaging	Het
Zan	A	C	5: 137,410,845 (GRCm39)		probably null	Het
Zfp945	A	T	17: 23,070,727 (GRCm39)	C412S	possibly damaging	Het

Other mutations in Or2z2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:Or2z2	APN	11	58,346,088 (GRCm39)	missense	probably damaging	1.00
IGL02001:Or2z2	APN	11	58,346,335 (GRCm39)	missense	probably benign	0.33
IGL02170:Or2z2	APN	11	58,345,906 (GRCm39)	missense	probably damaging	1.00
IGL02638:Or2z2	APN	11	58,345,873 (GRCm39)	missense	probably damaging	1.00
ANU22:Or2z2	UTSW	11	58,346,088 (GRCm39)	missense	probably damaging	1.00
R0502:Or2z2	UTSW	11	58,346,140 (GRCm39)	missense	possibly damaging	0.54
R0784:Or2z2	UTSW	11	58,346,131 (GRCm39)	missense	possibly damaging	0.63
R1300:Or2z2	UTSW	11	58,346,667 (GRCm39)	missense	probably damaging	1.00
R1451:Or2z2	UTSW	11	58,346,358 (GRCm39)	missense	probably benign	0.00
R1642:Or2z2	UTSW	11	58,346,664 (GRCm39)	missense	probably benign
R1754:Or2z2	UTSW	11	58,346,088 (GRCm39)	missense	probably damaging	1.00
R1854:Or2z2	UTSW	11	58,346,257 (GRCm39)	missense	probably damaging	1.00
R2920:Or2z2	UTSW	11	58,346,403 (GRCm39)	missense	probably damaging	1.00
R3160:Or2z2	UTSW	11	58,346,053 (GRCm39)	missense	probably damaging	1.00
R3162:Or2z2	UTSW	11	58,346,053 (GRCm39)	missense	probably damaging	1.00
R4791:Or2z2	UTSW	11	58,346,370 (GRCm39)	missense	possibly damaging	0.83
R4964:Or2z2	UTSW	11	58,346,733 (GRCm39)	missense	probably benign	0.05
R5433:Or2z2	UTSW	11	58,346,680 (GRCm39)	missense	probably damaging	0.99
R5543:Or2z2	UTSW	11	58,345,993 (GRCm39)	missense	probably damaging	1.00
R6649:Or2z2	UTSW	11	58,346,394 (GRCm39)	missense	probably damaging	0.98
R6653:Or2z2	UTSW	11	58,346,394 (GRCm39)	missense	probably damaging	0.98
R7388:Or2z2	UTSW	11	58,346,481 (GRCm39)	missense	probably damaging	1.00
R7492:Or2z2	UTSW	11	58,346,715 (GRCm39)	missense	probably benign	0.28
R7567:Or2z2	UTSW	11	58,345,992 (GRCm39)	missense	probably damaging	1.00
R8557:Or2z2	UTSW	11	58,346,562 (GRCm39)	missense	probably damaging	1.00
R8777:Or2z2	UTSW	11	58,346,757 (GRCm39)	nonsense	probably null
R8777-TAIL:Or2z2	UTSW	11	58,346,757 (GRCm39)	nonsense	probably null
R8810:Or2z2	UTSW	11	58,345,936 (GRCm39)	missense	possibly damaging	0.54
R9139:Or2z2	UTSW	11	58,345,999 (GRCm39)	missense	possibly damaging	0.92
Z1177:Or2z2	UTSW	11	58,346,363 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGTCTGAATGGAGGCGTTG -3'
(R):5'- CCTGTTCCTGTTCAGCATGG -3'

Sequencing Primer
(F):5'- TGGAGGCGTTGAGGGACC -3'
(R):5'- GGTCTACATCCTTGCTATGGC -3'

Posted On

2019-10-17