Mutagenetix > Incidental Mutation

Incidental Mutation 'R1451:Or2z2'

161681

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

039506-MU

Accession Numbers

Essential gene?

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

Stock #

R1451 (G1)

Quality Score

211

Status

Validated

Chromosome

Chromosomal Location

58345741-58346806 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 58346358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 139 (R139H)

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: R139H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000055961
Gene: ENSMUSG00000043314
AA Change: R139H

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: R139H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.0757

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.4%
20x: 86.3%

Validation Efficiency

96% (55/57)

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
1700024G13Rik	T	C	14: 32,098,588 (GRCm39)	E83G	possibly damaging	Het
Abca9	A	G	11: 110,018,273 (GRCm39)	S1116P	probably damaging	Het
Abcc12	T	A	8: 87,284,322 (GRCm39)	T296S	probably damaging	Het
Adarb2	A	G	13: 8,389,657 (GRCm39)		probably benign	Het
Arhgef12	C	T	9: 42,903,874 (GRCm39)		probably benign	Het
Asah1	A	G	8: 41,807,049 (GRCm39)		probably null	Het
C1ra	A	T	6: 124,498,600 (GRCm39)	Q431L	probably benign	Het
C1s2	A	T	6: 124,602,453 (GRCm39)	I580N	probably benign	Het
Cacna2d4	C	T	6: 119,213,785 (GRCm39)	T68I	probably benign	Het
Car8	A	T	4: 8,189,327 (GRCm39)	H162Q	probably benign	Het
Ccdc106	A	G	7: 5,062,527 (GRCm39)	R116G	probably damaging	Het
Ccdc136	T	A	6: 29,419,376 (GRCm39)	N965K	probably benign	Het
Cd200r3	A	G	16: 44,771,910 (GRCm39)	E58G	possibly damaging	Het
Cnksr3	T	A	10: 7,076,830 (GRCm39)	S121C	probably null	Het
Cog6	T	C	3: 52,916,534 (GRCm39)	M212V	possibly damaging	Het
Ebna1bp2	C	A	4: 118,478,269 (GRCm39)		probably null	Het
Epha1	C	A	6: 42,338,385 (GRCm39)	M730I	probably damaging	Het
Fcgbpl1	T	C	7: 27,836,582 (GRCm39)	F167S	probably damaging	Het
Fscn2	A	T	11: 120,252,848 (GRCm39)	E105V	probably damaging	Het
Gars1	T	C	6: 55,030,108 (GRCm39)		probably benign	Het
Itgb4	G	T	11: 115,881,710 (GRCm39)	G753V	probably damaging	Het
Kif23	C	T	9: 61,832,084 (GRCm39)	V634M	probably damaging	Het
Krt8	T	C	15: 101,907,264 (GRCm39)	Y273C	possibly damaging	Het
Lgmn	A	G	12: 102,372,151 (GRCm39)		probably benign	Het
Lrig3	T	C	10: 125,845,926 (GRCm39)	I785T	possibly damaging	Het
Lrriq1	A	G	10: 103,038,376 (GRCm39)		probably benign	Het
Lta4h	A	G	10: 93,316,590 (GRCm39)	D491G	probably damaging	Het
Megf10	A	T	18: 57,385,931 (GRCm39)	S315C	probably damaging	Het
Mphosph8	C	T	14: 56,905,878 (GRCm39)	R24C	possibly damaging	Het
Neurog2	A	G	3: 127,427,490 (GRCm39)	D38G	possibly damaging	Het
Or1j11	G	T	2: 36,311,877 (GRCm39)	A156S	probably benign	Het
Or2w2	A	T	13: 21,758,457 (GRCm39)	Y56*	probably null	Het
Or6b3	T	A	1: 92,439,517 (GRCm39)	I78F	possibly damaging	Het
Or8b50	A	T	9: 38,518,234 (GRCm39)	I158F	probably benign	Het
Or8g50	T	A	9: 39,648,612 (GRCm39)	V167D	probably benign	Het
Pcdhb17	A	T	18: 37,619,989 (GRCm39)	D593V	probably damaging	Het
Pde2a	G	T	7: 101,071,198 (GRCm39)	E23*	probably null	Het
Prex2	G	A	1: 11,226,483 (GRCm39)	V749I	probably benign	Het
Ptchd4	A	G	17: 42,813,809 (GRCm39)	Y570C	probably damaging	Het
Robo3	C	T	9: 37,329,007 (GRCm39)	R1237K	probably benign	Het
Slc6a1	C	A	6: 114,284,756 (GRCm39)	Y87*	probably null	Het
Snx13	G	A	12: 35,128,983 (GRCm39)	A34T	probably benign	Het
Sppl3	T	C	5: 115,226,424 (GRCm39)	L193P	probably damaging	Het
Tia1	A	T	6: 86,407,321 (GRCm39)	Y277F	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trappc2l	T	C	8: 123,342,134 (GRCm39)	F127L	probably damaging	Het
Ushbp1	G	T	8: 71,838,663 (GRCm39)	Q588K	possibly damaging	Het
Usp43	T	A	11: 67,747,007 (GRCm39)	H895L	probably benign	Het
Vmn1r179	T	A	7: 23,628,275 (GRCm39)	C155*	probably null	Het
Vmn2r8	T	A	5: 108,945,933 (GRCm39)	D558V	probably damaging	Het
Vps13a	T	C	19: 16,688,228 (GRCm39)	T860A	probably benign	Het
Vps50	A	G	6: 3,565,628 (GRCm39)	N522S	possibly damaging	Het
Zfp180	T	C	7: 23,804,643 (GRCm39)	F354S	probably benign	Het
Zgpat	A	G	2: 181,021,984 (GRCm39)		probably benign	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
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'- ACCCGTCACAAATAGTACCTGCTTG -3'
(R):5'- ATTTGGATGGACACCCGACTCCAC -3'

Sequencing Primer
(F):5'- TCCACAGTAGGGGAACTGAA -3'
(R):5'- GTCCCCAAGATGATAGTAGGCTTTC -3'

Posted On

2014-03-14