Mutagenetix > Incidental Mutation

Incidental Mutation 'R6992:Or2b4'

543937

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

045098-MU

Accession Numbers

Essential gene?

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

Stock #

R6992 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38115960-38117081 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38116754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 239 (N239K)

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: N239K

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

SMART Domains

Protein: ENSMUSP00000050544
Gene: ENSMUSG00000044985
AA Change: N239K

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: N239K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000216478
AA Change: N239K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000217365
AA Change: N239K

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (64/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	C	T	4: 103,099,990 (GRCm39)	S171N	possibly damaging	Het
6030468B19Rik	T	G	11: 117,688,594 (GRCm39)	M1R	probably null	Het
A730049H05Rik	T	C	6: 92,804,975 (GRCm39)		probably benign	Het
AC125199.3	G	T	16: 88,608,915 (GRCm39)	H52Q	possibly damaging	Het
Adam34	A	T	8: 44,105,642 (GRCm39)	M1K	probably null	Het
Adgrf5	T	C	17: 43,763,214 (GRCm39)		probably null	Het
Antxr2	T	C	5: 98,108,564 (GRCm39)	T316A	probably benign	Het
Cc2d1a	A	T	8: 84,861,542 (GRCm39)	V714D	probably damaging	Het
Cd96	A	G	16: 45,870,087 (GRCm39)	S461P	possibly damaging	Het
Cdc16	C	A	8: 13,809,188 (GRCm39)	A51E	probably benign	Het
Chd4	T	A	6: 125,091,339 (GRCm39)	D1243E	probably benign	Het
Cntf	A	T	19: 12,742,697 (GRCm39)	I21N	probably damaging	Het
Col11a2	C	T	17: 34,266,118 (GRCm39)	A282V	probably benign	Het
Col14a1	T	A	15: 55,274,958 (GRCm39)		probably null	Het
Cyp2b9	T	C	7: 25,900,564 (GRCm39)	Y401H	probably benign	Het
Dlgap4	A	G	2: 156,590,860 (GRCm39)		probably null	Het
Fancd2	T	C	6: 113,547,979 (GRCm39)		probably null	Het
Fcgbpl1	T	A	7: 27,839,608 (GRCm39)	F474I	probably benign	Het
Frem1	A	G	4: 82,858,599 (GRCm39)	V1622A	possibly damaging	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,797,390 (GRCm39)		probably benign	Het
Gstm4	A	G	3: 107,951,981 (GRCm39)	M3T	possibly damaging	Het
Hdac10	T	C	15: 89,009,534 (GRCm39)	D466G	probably benign	Het
Hook2	A	G	8: 85,729,185 (GRCm39)	E625G	probably damaging	Het
Hspbp1	G	C	7: 4,667,714 (GRCm39)	P260A	probably benign	Het
Igdcc3	C	A	9: 65,088,853 (GRCm39)	Q411K	probably damaging	Het
Il18rap	G	A	1: 40,581,195 (GRCm39)	E356K	probably benign	Het
Inpp4a	A	T	1: 37,428,772 (GRCm39)	M699L	probably damaging	Het
Klhdc1	A	G	12: 69,300,531 (GRCm39)	H157R	probably damaging	Het
Klhl6	G	T	16: 19,772,337 (GRCm39)	T336N	probably damaging	Het
Marchf7	T	C	2: 60,059,428 (GRCm39)		probably null	Het
Mast4	C	T	13: 102,941,155 (GRCm39)	V301I	probably damaging	Het
Mlh3	T	A	12: 85,282,494 (GRCm39)	N1412Y	probably damaging	Het
Mrps27	A	G	13: 99,541,522 (GRCm39)	M209V	probably benign	Het
Mtor	A	T	4: 148,548,932 (GRCm39)	T572S	probably benign	Het
Neurog1	T	C	13: 56,399,363 (GRCm39)	K128R	probably damaging	Het
Or10g6	T	A	9: 39,933,896 (GRCm39)	L69*	probably null	Het
Or5b122	A	G	19: 13,562,811 (GRCm39)	I48V	possibly damaging	Het
Pcdhgb1	A	G	18: 37,814,652 (GRCm39)	K381R	probably benign	Het
Pdzd2	T	C	15: 12,457,945 (GRCm39)	D306G	probably damaging	Het
Plekha5	C	T	6: 140,489,634 (GRCm39)	T237I	probably damaging	Het
Plscr1l1	T	C	9: 92,236,725 (GRCm39)	M128T	probably benign	Het
Pole	A	T	5: 110,480,365 (GRCm39)	I103F	probably damaging	Het
Ppfia2	A	T	10: 106,310,715 (GRCm39)	Q74L	possibly damaging	Het
Ppm1d	T	C	11: 85,223,178 (GRCm39)	F261S	probably damaging	Het
Psg21	A	T	7: 18,388,668 (GRCm39)		probably null	Het
Ptprg	T	A	14: 11,962,602 (GRCm38)	F133L	probably damaging	Het
Rom1	G	A	19: 8,906,569 (GRCm39)		probably benign	Het
Rtn3	A	G	19: 7,412,489 (GRCm39)	F762L	probably damaging	Het
Sec23ip	T	C	7: 128,367,164 (GRCm39)	S600P	probably benign	Het
Sema4b	T	A	7: 79,869,900 (GRCm39)	I396N	probably damaging	Het
Serpina3k	T	A	12: 104,307,366 (GRCm39)	D199E	probably benign	Het
Slc19a1	A	G	10: 76,885,540 (GRCm39)	D480G	possibly damaging	Het
Slc8b1	G	A	5: 120,665,880 (GRCm39)	V404M	probably damaging	Het
Slco1a4	T	C	6: 141,765,330 (GRCm39)	D304G	probably benign	Het
Smpdl3b	G	T	4: 132,472,452 (GRCm39)	A107D	possibly damaging	Het
Tesk1	A	G	4: 43,447,006 (GRCm39)	T465A	probably benign	Het
Tmem245	A	G	4: 56,937,940 (GRCm39)	F203L	probably benign	Het
Tnip1	T	A	11: 54,809,542 (GRCm39)	I442F	probably benign	Het
Txnip	A	G	3: 96,466,439 (GRCm39)	K127R	possibly damaging	Het
Usp32	A	C	11: 84,922,914 (GRCm39)	L172R	probably damaging	Het
Vmn2r66	A	G	7: 84,654,436 (GRCm39)	S508P	possibly damaging	Het
Vwa5b2	T	A	16: 20,416,952 (GRCm39)	Y550N	probably damaging	Het
Wdr81	G	A	11: 75,342,612 (GRCm39)	A885V	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
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'- GTGAAGTCCCAGCCCTTTTG -3'
(R):5'- TTGACCCAAAACTCCTTTGTTAGTG -3'

Sequencing Primer
(F):5'- GAAGTCCCAGCCCTTTTGAAACTAG -3'
(R):5'- TCCTCAGGGCAGCCTTAAC -3'

Posted On

2019-05-13