Mutagenetix > Incidental Mutation

Incidental Mutation 'R6025:Or2b4'

480002

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

044197-MU

Accession Numbers

Essential gene?

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

Stock #

R6025 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38115960-38117081 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 38116312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 92 (I92S)

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: I92S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050544
Gene: ENSMUSG00000044985
AA Change: I92S

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

noncoding transcript
Transcript: ENSMUST00000174446

Predicted Effect

probably damaging
Transcript: ENSMUST00000215168
AA Change: I92S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216478
AA Change: I92S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217365
AA Change: I92S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 92.0%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	GC	G	11: 59,101,139 (GRCm39)		probably null	Het
Acvr1b	C	A	15: 101,092,856 (GRCm39)	D166E	probably benign	Het
Adgra2	T	C	8: 27,604,491 (GRCm39)	I522T	probably damaging	Het
Adgre4	C	T	17: 56,099,013 (GRCm39)	S173L	probably benign	Het
Akap9	A	T	5: 4,082,801 (GRCm39)	Q1975L	probably damaging	Het
Ap3d1	T	A	10: 80,546,298 (GRCm39)	M965L	probably benign	Het
Brca2	CATA	CA	5: 150,465,040 (GRCm39)		probably null	Het
Chd6	T	C	2: 160,807,502 (GRCm39)	N1904S	probably benign	Het
Clstn3	A	T	6: 124,408,623 (GRCm39)	S896R	possibly damaging	Het
Col6a3	T	A	1: 90,755,824 (GRCm39)	D155V	probably damaging	Het
Dct	T	C	14: 118,273,876 (GRCm39)	T344A	possibly damaging	Het
Dctn1	T	A	6: 83,170,673 (GRCm39)		probably null	Het
Dgkz	T	C	2: 91,776,255 (GRCm39)	T3A	possibly damaging	Het
Duoxa2	T	C	2: 122,132,332 (GRCm39)	S249P	possibly damaging	Het
Ehbp1	A	T	11: 22,189,156 (GRCm39)	V82E	probably damaging	Het
Fcho1	A	T	8: 72,165,217 (GRCm39)		probably null	Het
Garin5b	T	A	7: 4,761,143 (GRCm39)	D523V	probably benign	Het
Ifi213	T	A	1: 173,422,800 (GRCm39)	N22Y	probably damaging	Het
Kcnq1	T	A	7: 142,660,170 (GRCm39)		probably benign	Het
Kif7	T	A	7: 79,354,388 (GRCm39)	Q799L	probably benign	Het
Lmnb1	T	A	18: 56,862,456 (GRCm39)	L206*	probably null	Het
Lonp2	G	T	8: 87,440,001 (GRCm39)	G247V	probably damaging	Het
Ly75	T	C	2: 60,206,306 (GRCm39)	Y121C	probably damaging	Het
Mboat1	C	A	13: 30,408,509 (GRCm39)	T224K	probably benign	Het
Mcm9	T	C	10: 53,492,073 (GRCm39)	E416G	possibly damaging	Het
Mtnr1b	A	T	9: 15,774,093 (GRCm39)	I322N	probably damaging	Het
Nanog	G	A	6: 122,690,350 (GRCm39)	G227R	possibly damaging	Het
Nbn	T	C	4: 15,981,347 (GRCm39)	S480P	probably damaging	Het
Nek10	C	A	14: 14,865,633 (GRCm38)	L638M	probably benign	Het
Nelfcd	T	C	2: 174,268,611 (GRCm39)	V538A	probably damaging	Het
Or1e33	A	T	11: 73,738,745 (GRCm39)	S69T	probably benign	Het
Or52a5b	T	C	7: 103,417,416 (GRCm39)	I63V	probably benign	Het
Or5b97	T	A	19: 12,879,034 (GRCm39)	T37S	probably benign	Het
Phf24	G	A	4: 42,938,780 (GRCm39)		probably null	Het
Pigz	T	C	16: 31,764,528 (GRCm39)	S529P	probably damaging	Het
Pik3r5	A	G	11: 68,383,144 (GRCm39)	E321G	probably damaging	Het
Plcb3	G	A	19: 6,933,547 (GRCm39)	T926I	probably benign	Het
Pm20d2	G	A	4: 33,181,833 (GRCm39)	P257S	probably damaging	Het
Pon2	A	G	6: 5,289,057 (GRCm39)	V34A	probably benign	Het
Prkar2b	A	G	12: 32,110,855 (GRCm39)	F76S	possibly damaging	Het
Prpf31	G	A	7: 3,642,668 (GRCm39)	E414K	probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Setbp1	A	T	18: 78,902,455 (GRCm39)	L404Q	probably damaging	Het
Slc26a11	C	T	11: 119,265,654 (GRCm39)	A389V	probably damaging	Het
Slc2a1	A	T	4: 118,993,539 (GRCm39)	T459S	possibly damaging	Het
Spi1	T	C	2: 90,944,685 (GRCm39)	L135P	probably benign	Het
Sspo	T	C	6: 48,463,720 (GRCm39)	L3844P	possibly damaging	Het
Stxbp5	T	A	10: 9,675,772 (GRCm39)	T616S	probably benign	Het
Syde2	A	G	3: 145,712,896 (GRCm39)		probably null	Het
Synm	G	T	7: 67,384,686 (GRCm39)	A550D	possibly damaging	Het
Tanc2	T	C	11: 105,787,373 (GRCm39)	V891A	possibly damaging	Het
Tanc2	G	A	11: 105,758,543 (GRCm39)	R768Q	probably damaging	Het
Tlx1	A	T	19: 45,144,413 (GRCm39)	Q45L	probably damaging	Het
Tmem104	C	A	11: 115,096,349 (GRCm39)	Y191*	probably null	Het
Tmem17	A	C	11: 22,468,659 (GRCm39)	*199C	probably null	Het
Tns3	A	T	11: 8,442,578 (GRCm39)	M595K	possibly damaging	Het
Tyk2	A	G	9: 21,027,256 (GRCm39)	V538A	probably benign	Het
Unc80	A	G	1: 66,734,727 (GRCm39)	D3250G	possibly damaging	Het
Usp4	A	G	9: 108,237,322 (GRCm39)	H130R	possibly damaging	Het
Zfhx2	T	C	14: 55,302,665 (GRCm39)	Q1773R	probably benign	Het
Zfp790	A	G	7: 29,528,970 (GRCm39)	K552E	possibly damaging	Het
Zswim5	G	A	4: 116,808,106 (GRCm39)	R230Q	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
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
R9638:Or2b4	UTSW	17	38,116,509 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTGGGATTTTCTGACCGGC -3'
(R):5'- TCCTGTGGCCATATGAATGC -3'

Sequencing Primer
(F):5'- GGCTGGAGACACCTCTCTTTG -3'
(R):5'- GGCCATATGAATGCATCGTTTC -3'

Posted On

2017-06-26