Mutagenetix > Incidental Mutation

Incidental Mutation 'R6241:Or2b4'

505265

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

044402-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R6241 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38115960-38117081 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38116432 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 132 (Y132C)

Ref Sequence

ENSEMBL: ENSMUSP00000149754 (fasta)

Gene Model

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

AlphaFold

Q8VGW6

Predicted Effect

probably damaging
Transcript: ENSMUST00000053599
AA Change: Y132C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000050544
Gene: ENSMUSG00000044985
AA Change: Y132C

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 damaging
Transcript: ENSMUST00000215168
AA Change: Y132C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216478
AA Change: Y132C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217365
AA Change: Y132C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

98% (51/52)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,623,788 (GRCm39)	I385V	probably benign	Het
Ablim2	A	G	5: 36,032,241 (GRCm39)	D622G	probably damaging	Het
Acsbg1	A	T	9: 54,549,946 (GRCm39)	S86T	probably damaging	Het
Adam34l	T	A	8: 44,079,133 (GRCm39)	I364L	probably benign	Het
Ank2	A	C	3: 126,846,397 (GRCm39)	D199E	probably damaging	Het
Art2a	T	A	7: 101,204,452 (GRCm39)	M29L	probably benign	Het
Bbs2	C	A	8: 94,824,863 (GRCm39)		probably null	Het
Brwd1	A	T	16: 95,815,074 (GRCm39)	I1402N	probably damaging	Het
C1qtnf9	C	A	14: 61,017,069 (GRCm39)	P200T	possibly damaging	Het
Ciita	T	C	16: 10,329,767 (GRCm39)	Y684H	probably damaging	Het
Dennd1c	T	C	17: 57,373,272 (GRCm39)	N734D	probably benign	Het
Depdc1b	A	T	13: 108,460,653 (GRCm39)	I88F	possibly damaging	Het
Dsg2	A	G	18: 20,723,274 (GRCm39)		probably null	Het
Foxp2	A	G	6: 15,394,761 (GRCm39)	T154A	probably damaging	Het
Gmeb1	A	T	4: 131,969,688 (GRCm39)	V95D	possibly damaging	Het
Gmeb1	A	G	4: 131,973,324 (GRCm39)	S62P	probably benign	Het
Golga5	T	A	12: 102,438,732 (GRCm39)	V149D	probably damaging	Het
H1f7	A	C	15: 98,154,652 (GRCm39)	S166A	unknown	Het
Hivep1	T	C	13: 42,311,846 (GRCm39)	L1362P	probably benign	Het
Ift81	T	C	5: 122,740,414 (GRCm39)	M205V	probably benign	Het
Iglv3	T	A	16: 19,059,968 (GRCm39)	Q120L	possibly damaging	Het
Ints9	C	T	14: 65,217,659 (GRCm39)	T62I	possibly damaging	Het
Itga1	G	T	13: 115,096,673 (GRCm39)		probably null	Het
Katnip	C	T	7: 125,472,006 (GRCm39)	H1532Y	probably benign	Het
Krt77	A	C	15: 101,773,988 (GRCm39)	I222S	probably damaging	Het
Mrps25	A	G	6: 92,160,819 (GRCm39)		probably null	Het
Mrps27	A	G	13: 99,548,754 (GRCm39)	T297A	probably benign	Het
Mup15	A	T	4: 61,357,850 (GRCm39)	L7Q	unknown	Het
Naip1	T	A	13: 100,562,169 (GRCm39)	I999F	probably damaging	Het
Ndst1	A	G	18: 60,836,901 (GRCm39)	F387L	probably damaging	Het
Nudt9	T	C	5: 104,202,151 (GRCm39)	S71P	probably damaging	Het
Or14c41	C	A	7: 86,235,245 (GRCm39)	A254D	probably benign	Het
Or5al1	T	G	2: 85,990,380 (GRCm39)	E111D	probably damaging	Het
Pak4	C	T	7: 28,264,690 (GRCm39)	V71I	possibly damaging	Het
Pcolce	A	C	5: 137,603,496 (GRCm39)	S446A	probably benign	Het
Per2	T	A	1: 91,349,251 (GRCm39)	N1040I	probably damaging	Het
Pla2g6	A	T	15: 79,188,592 (GRCm39)	S422T	probably benign	Het
Pla2r1	G	T	2: 60,332,543 (GRCm39)		probably null	Het
Plcb4	T	C	2: 135,752,094 (GRCm39)	V100A	possibly damaging	Het
Polr1d	C	T	5: 147,015,533 (GRCm39)	T72M	probably benign	Het
Psd3	A	C	8: 68,270,791 (GRCm39)		probably benign	Het
Radil	T	C	5: 142,480,697 (GRCm39)	E586G	probably damaging	Het
Rnf150	A	G	8: 83,591,093 (GRCm39)	N152S	possibly damaging	Het
Serpina1b	T	A	12: 103,695,515 (GRCm39)		probably null	Het
Setd3	C	T	12: 108,124,114 (GRCm39)	E192K	probably benign	Het
Ssu2	G	A	6: 112,351,781 (GRCm39)	H315Y	probably damaging	Het
Taok3	T	A	5: 117,410,262 (GRCm39)	M818K	probably benign	Het
Tmem131l	T	C	3: 83,829,471 (GRCm39)	N1062S	probably benign	Het
Tmx4	C	T	2: 134,481,425 (GRCm39)		probably benign	Het
Traip	G	A	9: 107,845,933 (GRCm39)	C342Y	probably benign	Het
Traj9	G	T	14: 54,446,890 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vegfc	T	C	8: 54,634,289 (GRCm39)	S323P	probably benign	Het
Vinac1	T	C	2: 128,879,301 (GRCm39)	D875G	possibly damaging	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
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
R7659:Or2b4	UTSW	17	38,116,054 (GRCm39)	missense	probably benign	0.43
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'- CACTGTCCCTCAGATGTTGG -3'
(R):5'- ATAGGTACCCAGGATGAGGCTG -3'

Sequencing Primer
(F):5'- CCTCAGATGTTGGTCAACCTTAGAG -3'
(R):5'- ACACTTGTGTCAGTGCAAGC -3'

Posted On

2018-02-28