Mutagenetix > Incidental Mutation

Incidental Mutation 'R9638:Or2b4'

725849

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

Accession Numbers

Essential gene?

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

Stock #

R9638 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38115960-38117081 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 38116509 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 158 (V158M)

Ref Sequence

ENSEMBL: ENSMUSP00000148904 (fasta)

Gene Model

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

AlphaFold

Q8VGW6

Predicted Effect

probably damaging
Transcript: ENSMUST00000053599
AA Change: V158M

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

SMART Domains

Protein: ENSMUSP00000050544
Gene: ENSMUSG00000044985
AA Change: V158M

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: V158M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000216478
AA Change: V158M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000217365
AA Change: V158M

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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]
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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	G	4: 53,092,806 (GRCm39)	E326A	probably damaging	Het
Aldh1a1	T	A	19: 20,614,100 (GRCm39)	N423K	probably benign	Het
Aldh4a1	T	A	4: 139,371,427 (GRCm39)	I447N	probably damaging	Het
Atg9b	T	C	5: 24,596,406 (GRCm39)	D170G	possibly damaging	Het
Bnc2	C	T	4: 84,332,492 (GRCm39)	V75M	probably damaging	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Ccdc162	C	A	10: 41,437,159 (GRCm39)	C1750F	probably benign	Het
Cdh10	T	A	15: 18,964,301 (GRCm39)	N154K	probably damaging	Het
Cdh22	T	C	2: 164,988,687 (GRCm39)	I223V	probably damaging	Het
Ces1b	T	A	8: 93,806,534 (GRCm39)	H4L	probably benign	Het
Cfap46	A	T	7: 139,209,763 (GRCm39)	F1806I	unknown	Het
Cwh43	T	A	5: 73,565,486 (GRCm39)	V17D	possibly damaging	Het
Ddx3y	C	T	Y: 1,263,599 (GRCm39)	G623D	probably benign	Het
Dtna	A	T	18: 23,744,122 (GRCm39)	I389L	probably benign	Het
F830016B08Rik	A	G	18: 60,432,956 (GRCm39)	D13G	probably benign	Het
Fam161b	T	C	12: 84,403,187 (GRCm39)	I148V	probably benign	Het
Fhip1a	T	A	3: 85,568,391 (GRCm39)	N1043Y	probably damaging	Het
Fli1	T	C	9: 32,388,020 (GRCm39)	Y23C	probably damaging	Het
Gimap6	A	G	6: 48,679,424 (GRCm39)	V204A	probably benign	Het
Ighv4-1	T	G	12: 113,911,904 (GRCm39)	R116S	probably damaging	Het
Isx	T	C	8: 75,619,566 (GRCm39)	L239P	probably damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Krt81	T	C	15: 101,358,856 (GRCm39)	T299A	probably benign	Het
Lrrc30	A	G	17: 67,939,226 (GRCm39)	L118P	probably damaging	Het
Mapk8ip3	T	C	17: 25,118,023 (GRCm39)	T1290A	probably benign	Het
Mef2b	ACCCTCACCC	ACC	8: 70,619,506 (GRCm39)		probably null	Het
Meltf	G	A	16: 31,706,409 (GRCm39)	E298K	possibly damaging	Het
Muc16	T	A	9: 18,550,626 (GRCm39)	E5222D	probably benign	Het
Nin	T	C	12: 70,067,618 (GRCm39)	N2003S		Het
Or1e23	A	G	11: 73,407,875 (GRCm39)	I50T	probably benign	Het
Or51f1d	T	C	7: 102,701,018 (GRCm39)	L171P	probably damaging	Het
Palld	A	G	8: 62,002,788 (GRCm39)	V826A	unknown	Het
Paxbp1	C	A	16: 90,831,881 (GRCm39)	V336L	probably benign	Het
Paxbp1	T	A	16: 90,831,882 (GRCm39)	E335D	probably benign	Het
Por	C	A	5: 135,754,615 (GRCm39)	Q12K	unknown	Het
Pot1a	G	A	6: 25,750,106 (GRCm39)	Q519*	probably null	Het
Psd	GCC	GC	19: 46,301,841 (GRCm39)		probably null	Het
Ptger4	A	G	15: 5,264,693 (GRCm39)	F321S	probably damaging	Het
Ptk7	A	G	17: 46,890,519 (GRCm39)	Y438H	possibly damaging	Het
Rimklb	A	T	6: 122,433,558 (GRCm39)	N254K	probably benign	Het
Rpn2	A	T	2: 157,125,566 (GRCm39)	T26S	probably benign	Het
Rtn4rl2	A	T	2: 84,710,760 (GRCm39)	L168H	probably damaging	Het
Scel	G	T	14: 103,779,409 (GRCm39)	A127S	possibly damaging	Het
Sema4a	T	A	3: 88,357,066 (GRCm39)	N302Y	probably damaging	Het
Supt3	A	G	17: 45,234,133 (GRCm39)	T50A	possibly damaging	Het
Upf3a	G	A	8: 13,848,343 (GRCm39)	A380T	probably benign	Het
Zbtb14	G	A	17: 69,695,375 (GRCm39)	E358K	probably damaging	Het
Zfp677	A	T	17: 21,618,056 (GRCm39)	H371L	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- TTAGAGGGCCTGAAAAGACCATC -3'
(R):5'- ATAGGTACCCAGGATGAGGC -3'

Sequencing Primer
(F):5'- GGCCTGAAAAGACCATCAGCTATG -3'
(R):5'- TGAGGCTGAGAGGCACC -3'

Posted On

2022-09-12