Mutagenetix > Incidental Mutation

Incidental Mutation 'R6649:Or2z2'

527695

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

044770-MU

Accession Numbers

Essential gene?

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

Stock #

R6649 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58345741-58346806 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58346394 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 127 (I127N)

Ref Sequence

ENSEMBL: ENSMUSP00000148907 (fasta)

Gene Model

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

AlphaFold

Q8VGD8

Predicted Effect

probably damaging
Transcript: ENSMUST00000055204
AA Change: I127N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000055961
Gene: ENSMUSG00000043314
AA Change: I127N

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 damaging
Transcript: ENSMUST00000215691
AA Change: I127N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	A	19: 43,800,941 (GRCm39)	H627Q	probably benign	Het
Abra	G	A	15: 41,732,629 (GRCm39)	L146F	probably benign	Het
Adamts7	T	C	9: 90,073,990 (GRCm39)	C857R	probably damaging	Het
Ankhd1	A	T	18: 36,733,836 (GRCm39)		probably null	Het
Asb15	A	G	6: 24,562,632 (GRCm39)	N198S	probably benign	Het
Asb16	A	T	11: 102,159,863 (GRCm39)	Q72L	possibly damaging	Het
Atosa	T	G	9: 74,917,432 (GRCm39)	L677R	probably damaging	Het
Bbox1	G	T	2: 110,135,914 (GRCm39)	H22N	probably benign	Het
Bcdin3d	T	C	15: 99,368,696 (GRCm39)	T168A	probably damaging	Het
Bmp1	A	T	14: 70,728,058 (GRCm39)	W624R	probably damaging	Het
Cdh18	A	T	15: 23,436,620 (GRCm39)	Y492F	possibly damaging	Het
Cep290	A	C	10: 100,354,393 (GRCm39)	D848A	probably benign	Het
Cip2a	A	T	16: 48,837,829 (GRCm39)	Q843L	probably damaging	Het
Cmya5	G	C	13: 93,234,533 (GRCm39)	S185C	possibly damaging	Het
Cops9	C	T	1: 92,568,136 (GRCm39)		probably benign	Het
Cutal	C	T	2: 34,775,933 (GRCm39)	T88I	probably benign	Het
Dlg4	G	T	11: 69,914,779 (GRCm39)		probably benign	Het
Dnah7c	C	A	1: 46,688,500 (GRCm39)	T1890K	probably benign	Het
Dnah7c	A	G	1: 46,688,511 (GRCm39)	S1894G	probably benign	Het
Eef2	CCC	CCCC	10: 81,014,602 (GRCm39)		probably null	Het
Erp44	T	C	4: 48,205,130 (GRCm39)	I288V	probably null	Het
Fat3	T	C	9: 16,288,038 (GRCm39)	D495G	probably damaging	Het
Fsip2	T	C	2: 82,798,161 (GRCm39)	V485A	possibly damaging	Het
Gm14496	A	T	2: 181,639,269 (GRCm39)	H453L	possibly damaging	Het
Gm17027	T	C	14: 41,981,236 (GRCm39)	T207A	unknown	Het
Gm6902	T	G	7: 22,973,159 (GRCm39)	T123P	possibly damaging	Het
Gpat2	T	G	2: 127,274,355 (GRCm39)	W366G	possibly damaging	Het
Heatr6	A	T	11: 83,650,191 (GRCm39)	T216S	probably benign	Het
Hsd17b14	T	C	7: 45,205,500 (GRCm39)	V11A	probably damaging	Het
Jak2	T	A	19: 29,266,110 (GRCm39)	I517N	probably benign	Het
Kmt5b	G	A	19: 3,857,295 (GRCm39)	G351R	probably damaging	Het
Mau2	G	T	8: 70,484,166 (GRCm39)	Q141K	possibly damaging	Het
Mfsd13a	T	C	19: 46,356,305 (GRCm39)	F137L	probably damaging	Het
Mfsd13a	A	G	19: 46,360,704 (GRCm39)	H394R	probably benign	Het
Mfsd14b	A	T	13: 65,214,599 (GRCm39)	I451N	probably damaging	Het
Milr1	C	T	11: 106,648,537 (GRCm39)	H143Y	probably benign	Het
Mon2	T	G	10: 122,874,385 (GRCm39)	K321T	possibly damaging	Het
Nlrp9c	T	A	7: 26,070,747 (GRCm39)	N945Y	probably damaging	Het
Nwd2	A	G	5: 63,882,527 (GRCm39)	R60G	possibly damaging	Het
Or52b2	T	C	7: 104,986,914 (GRCm39)	H3R	probably benign	Het
Or8g20	A	G	9: 39,396,048 (GRCm39)	V164A	probably benign	Het
Papola	A	T	12: 105,778,566 (GRCm39)	I315L	possibly damaging	Het
Phf3	A	T	1: 30,844,104 (GRCm39)	S1618R	possibly damaging	Het
Phyhipl	A	G	10: 70,404,843 (GRCm39)	F77L	probably damaging	Het
Ppp3cb	A	G	14: 20,581,094 (GRCm39)	L110P	probably damaging	Het
Prss53	T	G	7: 127,485,747 (GRCm39)	E531A	probably benign	Het
Raf1	A	T	6: 115,608,302 (GRCm39)	H236Q	probably benign	Het
Ryr2	A	G	13: 11,610,529 (GRCm39)	V4099A	probably damaging	Het
Sfxn3	G	A	19: 45,038,354 (GRCm39)		probably null	Het
Sh3pxd2b	T	C	11: 32,365,978 (GRCm39)		probably null	Het
Slco6c1	C	T	1: 97,053,436 (GRCm39)	S155N	probably benign	Het
Speer4f2	A	G	5: 17,580,767 (GRCm39)	T115A	probably benign	Het
Spry1	T	C	3: 37,696,871 (GRCm39)	I38T	probably damaging	Het
Tagap	T	C	17: 8,152,546 (GRCm39)	V577A	probably benign	Het
Ubr4	C	A	4: 139,200,935 (GRCm39)	H4706Q	possibly damaging	Het
Vmn2r112	T	A	17: 22,820,160 (GRCm39)	L11Q	probably null	Het
Zfp60	T	C	7: 27,448,151 (GRCm39)	F273S	probably benign	Het
Zfp938	A	T	10: 82,061,232 (GRCm39)	Y463N	probably 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
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'- CACCTCACAGAAGAAGTGGG -3'
(R):5'- GATTTGGATGGACACCCGAC -3'

Sequencing Primer
(F):5'- GAGATCTTCCGTGATCCACAGTAG -3'
(R):5'- AGCCAGCTGTCCTTCCTGG -3'

Posted On

2018-07-23