Mutagenetix > Incidental Mutation

Incidental Mutation 'R0502:Or2z2'

47213

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

038697-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R0502 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58345741-58346806 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58346140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 212 (I212V)

Ref Sequence

ENSEMBL: ENSMUSP00000148907 (fasta)

Gene Model

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

AlphaFold

Q8VGD8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055204
AA Change: I212V

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000055961
Gene: ENSMUSG00000043314
AA Change: I212V

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

possibly damaging
Transcript: ENSMUST00000215691
AA Change: I212V

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,838,322 (GRCm39)	H755R	possibly damaging	Het
Ano1	A	G	7: 144,150,952 (GRCm39)	L821P	probably damaging	Het
Apol10b	T	A	15: 77,476,349 (GRCm39)		probably benign	Het
Atp2c2	A	G	8: 120,461,316 (GRCm39)	E279G	probably null	Het
Ccar2	A	G	14: 70,378,431 (GRCm39)	S625P	probably benign	Het
Ccdc110	A	G	8: 46,387,761 (GRCm39)		probably benign	Het
Cep350	A	T	1: 155,776,629 (GRCm39)		probably null	Het
Chd3	A	G	11: 69,244,931 (GRCm39)	V1203A	probably damaging	Het
Col24a1	A	G	3: 145,251,071 (GRCm39)		probably benign	Het
Col6a6	A	T	9: 105,644,550 (GRCm39)	M1246K	probably benign	Het
Crot	A	G	5: 9,026,075 (GRCm39)	V304A	possibly damaging	Het
Dapk1	T	A	13: 60,878,662 (GRCm39)		probably null	Het
Dicer1	A	T	12: 104,671,319 (GRCm39)	S984T	probably damaging	Het
Dmbt1	G	A	7: 130,699,403 (GRCm39)		probably null	Het
Dnah7b	A	T	1: 46,258,704 (GRCm39)	E1965V	probably damaging	Het
Dpp4	G	T	2: 62,195,332 (GRCm39)	N315K	probably damaging	Het
Eeig2	G	A	3: 108,900,001 (GRCm39)	R116C	probably damaging	Het
Fat4	T	A	3: 39,057,073 (GRCm39)	S4256R	probably damaging	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Gpatch4	A	G	3: 87,962,672 (GRCm39)	D295G	probably benign	Het
Gpbar1	A	T	1: 74,318,551 (GRCm39)	I265F	probably benign	Het
Gria1	T	G	11: 57,080,542 (GRCm39)	V175G	probably damaging	Het
Hacl1	A	T	14: 31,344,941 (GRCm39)		probably benign	Het
Hnrnpc	A	G	14: 52,312,629 (GRCm39)		probably benign	Het
Hoxa13	CCG	CCGCG	6: 52,237,618 (GRCm39)		probably null	Het
Ifnar1	T	A	16: 91,298,639 (GRCm39)	C419S	probably damaging	Het
Irx4	T	A	13: 73,414,703 (GRCm39)		probably null	Het
Itga2	T	G	13: 114,982,392 (GRCm39)	N1038H	probably benign	Het
Kif16b	C	T	2: 142,554,075 (GRCm39)	D908N	probably benign	Het
Lamc1	A	G	1: 153,122,678 (GRCm39)		probably benign	Het
Lrig3	A	G	10: 125,844,605 (GRCm39)	T690A	probably damaging	Het
Lrp2	T	C	2: 69,341,361 (GRCm39)	K940E	probably damaging	Het
Macf1	A	G	4: 123,363,608 (GRCm39)	S1775P	probably damaging	Het
Mrps27	G	T	13: 99,546,303 (GRCm39)		probably benign	Het
Ncam1	A	G	9: 49,481,118 (GRCm39)		probably benign	Het
Nopchap1	A	G	10: 83,197,920 (GRCm39)	D42G	probably damaging	Het
Or51a5	A	T	7: 102,771,643 (GRCm39)	M112K	possibly damaging	Het
Pbrm1	T	G	14: 30,786,777 (GRCm39)	D631E	probably benign	Het
Pdc	A	T	1: 150,204,165 (GRCm39)		probably benign	Het
Pkd1	T	C	17: 24,793,766 (GRCm39)	S1818P	probably damaging	Het
Ptpru	T	C	4: 131,520,954 (GRCm39)	N784S	probably benign	Het
Rab35	G	A	5: 115,783,723 (GRCm39)	R170Q	probably benign	Het
Rerg	A	T	6: 137,033,305 (GRCm39)	C123*	probably null	Het
Ros1	A	G	10: 52,070,919 (GRCm39)		probably benign	Het
Siglece	A	G	7: 43,309,355 (GRCm39)	Y68H	probably damaging	Het
Slc28a2	T	A	2: 122,288,762 (GRCm39)		probably null	Het
Slc4a11	T	C	2: 130,530,077 (GRCm39)	K234E	probably damaging	Het
Sqor	C	T	2: 122,639,970 (GRCm39)	P158S	probably benign	Het
Tcerg1	C	T	18: 42,656,021 (GRCm39)	P110S	unknown	Het
Tm6sf2	T	A	8: 70,530,591 (GRCm39)	Y224N	probably damaging	Het
Tmem39b	A	C	4: 129,580,779 (GRCm39)	Y238D	possibly damaging	Het
Ttll10	T	C	4: 156,132,005 (GRCm39)		probably benign	Het
Ubap2l	A	T	3: 89,916,520 (GRCm39)	L898Q	probably damaging	Het
Uggt1	A	T	1: 36,199,027 (GRCm39)	V1207E	probably damaging	Het
Uhrf2	A	G	19: 30,070,176 (GRCm39)	D775G	probably damaging	Het
Utp25	A	T	1: 192,797,136 (GRCm39)		probably benign	Het
Vmn1r196	G	A	13: 22,477,557 (GRCm39)	M65I	probably benign	Het
Vmn1r87	T	G	7: 12,865,583 (GRCm39)	T235P	probably damaging	Het
Vmn2r96	T	A	17: 18,804,262 (GRCm39)	M504K	probably benign	Het
Zdbf2	A	T	1: 63,344,449 (GRCm39)	I943F	possibly damaging	Het
Zfp78	A	G	7: 6,376,157 (GRCm39)	D22G	probably damaging	Het
Zfp827	C	T	8: 79,905,706 (GRCm39)		probably null	Het
Zfyve9	A	T	4: 108,576,961 (GRCm39)	L40*	probably null	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
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
R7566:Or2z2	UTSW	11	58,346,489 (GRCm39)	missense	probably benign	0.02
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'- AGGCATTTCTATTGACGCCACACC -3'
(R):5'- GCTATCTGCAACCCTCTGCGATAC -3'

Sequencing Primer
(F):5'- GACAGATACTACATCGTCTTGGC -3'
(R):5'- CCTCTGCGATACCCAGTG -3'

Posted On

2013-06-12