Mutagenetix > Incidental Mutation

Incidental Mutation 'R7659:Or2b4'

591467

Institutional Source

Beutler Lab

Gene Symbol

Or2b4

Ensembl Gene

ENSMUSG00000044985

Gene Name

olfactory receptor family 2 subfamily B member 4

Synonyms

MOR256-3, A3, Olfr124, SR1, GA_x6K02T2PSCP-2264806-2265753

MMRRC Submission

045734-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R7659 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38115960-38117081 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38116054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 6 (Q6L)

Ref Sequence

ENSEMBL: ENSMUSP00000148904 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053599] [ENSMUST00000215168] [ENSMUST00000216478] [ENSMUST00000217365]

AlphaFold

Q8VGW6

Predicted Effect

probably benign
Transcript: ENSMUST00000053599
AA Change: Q6L

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000050544
Gene: ENSMUSG00000044985
AA Change: Q6L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1e-49	PFAM
Pfam:7TM_GPCR_Srsx	35	305	9e-6	PFAM
Pfam:7tm_1	41	290	7.3e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215168
AA Change: Q6L

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000216478
AA Change: Q6L

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000217365
AA Change: Q6L

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (66/66)

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]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a significantly reduced density of olfactory sensory neurons in the septal organ, and show altered patterns of odorant responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh2	T	C	5: 121,707,023 (GRCm39)	E498G	probably damaging	Het
Ankar	T	C	1: 72,729,294 (GRCm39)	T284A	possibly damaging	Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Atp6v0a4	A	G	6: 38,048,907 (GRCm39)	I452T	probably damaging	Het
Azgp1	G	T	5: 137,985,775 (GRCm39)	A133S	probably damaging	Het
Bmp2k	T	C	5: 97,222,578 (GRCm39)	S667P	unknown	Het
C1qtnf9	T	A	14: 61,009,753 (GRCm39)	I3N	possibly damaging	Het
C530025M09Rik	T	G	2: 149,672,539 (GRCm39)	T199P	unknown	Het
Casc3	C	G	11: 98,700,699 (GRCm39)	R4G	unknown	Het
Cass4	A	G	2: 172,268,947 (GRCm39)	D343G	probably damaging	Het
Cenatac	T	C	9: 44,324,790 (GRCm39)	E164G	probably damaging	Het
Col6a3	T	A	1: 90,709,467 (GRCm39)	T2517S	unknown	Het
Dbr1	A	G	9: 99,458,663 (GRCm39)	T78A	probably damaging	Het
Dnah9	A	G	11: 65,880,606 (GRCm39)	F2664L	probably damaging	Het
Eif2ak1	T	C	5: 143,826,280 (GRCm39)	I431T	probably damaging	Het
Got1	A	G	19: 43,493,078 (GRCm39)	V281A	probably benign	Het
Gpld1	A	C	13: 25,163,964 (GRCm39)	R555S	probably benign	Het
Gpr149	T	C	3: 62,511,256 (GRCm39)	R248G	probably benign	Het
Hps3	G	A	3: 20,076,978 (GRCm39)	R395*	probably null	Het
Inpp5b	T	C	4: 124,689,219 (GRCm39)	L833P	probably damaging	Het
Itgb4	A	T	11: 115,870,557 (GRCm39)	S129C	probably damaging	Het
Kif1a	T	A	1: 92,974,542 (GRCm39)		probably benign	Het
Lgr4	T	A	2: 109,827,111 (GRCm39)	V205E	probably damaging	Het
Mbd3	T	C	10: 80,231,019 (GRCm39)	N96S	probably damaging	Het
Mcam	T	A	9: 44,048,067 (GRCm39)	C136S	unknown	Het
Mki67	A	G	7: 135,299,155 (GRCm39)	S1960P	probably damaging	Het
Mogs	G	A	6: 83,093,806 (GRCm39)		probably null	Het
Muc6	T	C	7: 141,216,973 (GRCm39)	T2567A	possibly damaging	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Nae1	A	G	8: 105,242,796 (GRCm39)	V432A	probably benign	Het
Nav3	T	G	10: 109,602,851 (GRCm39)	T1233P	probably benign	Het
Nme9	G	A	9: 99,352,910 (GRCm39)	A287T	possibly damaging	Het
Nmrk1	A	G	19: 18,613,499 (GRCm39)	I8V	probably benign	Het
Noa1	T	C	5: 77,457,237 (GRCm39)	N223D	not run	Het
Nr4a3	T	C	4: 48,051,269 (GRCm39)	Y8H	probably damaging	Het
Or12e1	T	A	2: 87,022,709 (GRCm39)	V226E	possibly damaging	Het
Or1j15	T	A	2: 36,458,637 (GRCm39)	V9E	possibly damaging	Het
Or4n4b	T	C	14: 50,536,698 (GRCm39)	I23V	probably benign	Het
Or4p20	T	C	2: 88,254,270 (GRCm39)	Y33C	probably damaging	Het
Or52h2	T	C	7: 103,839,394 (GRCm39)	S7G	probably benign	Het
Or7g29	C	T	9: 19,286,854 (GRCm39)	A108T	probably benign	Het
Or8c9	T	C	9: 38,241,012 (GRCm39)	V40A	possibly damaging	Het
Otoa	T	A	7: 120,733,267 (GRCm39)	H711Q	probably benign	Het
Otogl	T	A	10: 107,612,981 (GRCm39)	E2048D	probably benign	Het
Paip1	C	T	13: 119,587,306 (GRCm39)	T390I	possibly damaging	Het
Pcdha3	A	G	18: 37,081,219 (GRCm39)	T654A	probably benign	Het
Pigg	G	A	5: 108,486,485 (GRCm39)	V713I	probably benign	Het
Ppt1	T	A	4: 122,730,126 (GRCm39)	H26Q	probably benign	Het
Prim1	T	C	10: 127,862,458 (GRCm39)		probably null	Het
Prmt7	G	T	8: 106,963,918 (GRCm39)	A271S	probably benign	Het
Ptprd	T	C	4: 76,047,153 (GRCm39)	D124G	probably benign	Het
Rad54l2	T	C	9: 106,590,777 (GRCm39)	K450E	probably benign	Het
Rasgrp2	G	T	19: 6,451,857 (GRCm39)	V13L	probably damaging	Het
Sapcd2	A	G	2: 25,265,978 (GRCm39)		probably null	Het
Siglecf	A	G	7: 43,001,194 (GRCm39)	Y54C	probably damaging	Het
Stk31	T	A	6: 49,400,340 (GRCm39)	N388K	probably benign	Het
Timm23	A	C	14: 31,920,935 (GRCm39)	Y52*	probably null	Het
Tm9sf1	A	T	14: 55,873,792 (GRCm39)	F569I	probably damaging	Het
Tmprss9	C	A	10: 80,728,843 (GRCm39)	A592E	probably damaging	Het
Trim30d	A	T	7: 104,121,554 (GRCm39)	V397E	probably benign	Het
Tshz1	A	T	18: 84,034,200 (GRCm39)	N69K	probably damaging	Het
Upk2	A	C	9: 44,364,808 (GRCm39)	S130R	probably damaging	Het
Vmn1r80	A	G	7: 11,926,977 (GRCm39)	Y29C	probably damaging	Het
Vmn2r96	T	C	17: 18,793,749 (GRCm39)	I31T	probably benign	Het
Zfp975	T	C	7: 42,311,848 (GRCm39)	Q255R	probably benign	Het

Other mutations in Or2b4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01160:Or2b4	APN	17	38,116,941 (GRCm39)	missense	probably benign	0.00
IGL01512:Or2b4	APN	17	38,116,503 (GRCm39)	missense	probably damaging	0.99
IGL01986:Or2b4	APN	17	38,116,957 (GRCm39)	missense	probably damaging	1.00
IGL03151:Or2b4	APN	17	38,116,159 (GRCm39)	missense	probably damaging	1.00
R0060:Or2b4	UTSW	17	38,116,891 (GRCm39)	missense	probably damaging	0.99
R0060:Or2b4	UTSW	17	38,116,891 (GRCm39)	missense	probably damaging	0.99
R1075:Or2b4	UTSW	17	38,116,660 (GRCm39)	nonsense	probably null
R1177:Or2b4	UTSW	17	38,116,843 (GRCm39)	missense	probably benign	0.36
R1422:Or2b4	UTSW	17	38,116,254 (GRCm39)	missense	probably damaging	0.98
R1875:Or2b4	UTSW	17	38,115,996 (GRCm39)	start gained	probably benign
R2088:Or2b4	UTSW	17	38,116,686 (GRCm39)	missense	probably benign	0.22
R4712:Or2b4	UTSW	17	38,116,591 (GRCm39)	nonsense	probably null
R6025:Or2b4	UTSW	17	38,116,312 (GRCm39)	missense	probably damaging	1.00
R6241:Or2b4	UTSW	17	38,116,432 (GRCm39)	missense	probably damaging	1.00
R6992:Or2b4	UTSW	17	38,116,754 (GRCm39)	missense	probably damaging	1.00
R7221:Or2b4	UTSW	17	38,116,452 (GRCm39)	missense	probably benign	0.04
R7383:Or2b4	UTSW	17	38,116,972 (GRCm39)	missense	probably benign	0.00
R7881:Or2b4	UTSW	17	38,116,320 (GRCm39)	missense	probably damaging	1.00
R8018:Or2b4	UTSW	17	38,116,038 (GRCm39)	start codon destroyed	probably null	0.00
R8341:Or2b4	UTSW	17	38,116,543 (GRCm39)	missense	probably damaging	1.00
R9638:Or2b4	UTSW	17	38,116,509 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACTACAACCATGCTGAGACG -3'
(R):5'- CAACATCTGAGGGACAGTGC -3'

Sequencing Primer
(F):5'- CATGCTGAGACGACATTATACAG -3'
(R):5'- GCTCGTAGTATAGCAGAGGTCC -3'

Posted On

2019-11-12