Mutagenetix > Incidental Mutation

Incidental Mutation 'R7045:Or52n4b'

547251

Institutional Source

Beutler Lab

Gene Symbol

Or52n4b

Ensembl Gene

ENSMUSG00000060759

Gene Name

olfactory receptor family 52 subfamily N member 4B

Synonyms

MOR34-9, MOR34-12, GA_x6K02T2PBJ9-10874315-10875286, MOR34-8P, Olfr503, Olfr1548, MOR34-9

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R7045 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108143734-108144705 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108144452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 238 (K238R)

Ref Sequence

ENSEMBL: ENSMUSP00000147778 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078162] [ENSMUST00000211693]

AlphaFold

Q7TRU8

Predicted Effect

probably damaging
Transcript: ENSMUST00000078162
AA Change: K240R

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

SMART Domains

Protein: ENSMUSP00000077296
Gene: ENSMUSG00000060759
AA Change: K240R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	315	3e-103	PFAM
Pfam:7TM_GPCR_Srsx	39	268	2.4e-7	PFAM
Pfam:7tm_1	45	297	9.2e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000211693
AA Change: K238R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt1	A	T	12: 112,628,735 (GRCm39)	Y18*	probably null	Het
Ank2	C	A	3: 126,806,393 (GRCm39)	A583S	probably damaging	Het
Aoc1l3	T	C	6: 48,965,546 (GRCm39)	V518A	possibly damaging	Het
Atp8b4	T	C	2: 126,214,115 (GRCm39)	N706S	probably benign	Het
Bace2	A	G	16: 97,200,865 (GRCm39)	N111S	probably damaging	Het
Cnp	A	T	11: 100,471,184 (GRCm39)	R275S	probably benign	Het
Cs	T	A	10: 128,188,586 (GRCm39)	M104K	probably benign	Het
Ctcfl	G	A	2: 172,954,167 (GRCm39)	T310I	probably damaging	Het
Cyp2d40	T	C	15: 82,645,763 (GRCm39)	I81V	probably benign	Het
Ddx19a	A	G	8: 111,719,706 (GRCm39)	V30A	probably benign	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dock6	G	A	9: 21,733,107 (GRCm39)	A1062V	probably damaging	Het
Dpysl2	T	C	14: 67,067,395 (GRCm39)	D172G	probably benign	Het
Eml2	A	G	7: 18,935,504 (GRCm39)	D638G	probably damaging	Het
Epb41l4b	C	A	4: 57,103,522 (GRCm39)	A105S	possibly damaging	Het
Fat4	A	G	3: 38,942,750 (GRCm39)	I548V	probably benign	Het
Gabrb2	G	A	11: 42,484,758 (GRCm39)	A272T	probably damaging	Het
Gask1a	T	C	9: 121,794,707 (GRCm39)	L287P	probably damaging	Het
Hcn1	C	T	13: 118,111,998 (GRCm39)	P654L	unknown	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,194,000 (GRCm39)		probably benign	Het
Hk1	C	A	10: 62,122,349 (GRCm39)	G477C	probably damaging	Het
Hspa5	C	T	2: 34,663,204 (GRCm39)	P127L	probably damaging	Het
Kiss1r	A	G	10: 79,755,259 (GRCm39)		probably null	Het
L3mbtl4	G	T	17: 68,768,561 (GRCm39)	R223L	probably benign	Het
Loxl4	G	T	19: 42,595,074 (GRCm39)	N200K	probably damaging	Het
Lrba	T	C	3: 86,192,398 (GRCm39)	V104A	probably benign	Het
Lyst	T	A	13: 13,809,485 (GRCm39)	V385D	probably benign	Het
Lyst	T	A	13: 13,812,293 (GRCm39)	C902S	probably damaging	Het
Mrpl28	T	C	17: 26,345,261 (GRCm39)	F227S	probably benign	Het
Mtmr3	A	T	11: 4,448,896 (GRCm39)	V289E	possibly damaging	Het
Ndst3	A	G	3: 123,465,732 (GRCm39)	V80A	probably damaging	Het
Nid2	C	T	14: 19,829,749 (GRCm39)	A680V	possibly damaging	Het
Nudcd1	T	C	15: 44,269,226 (GRCm39)	N145D	probably benign	Het
Nup210	A	T	6: 91,031,433 (GRCm39)	I812N	probably damaging	Het
Or2ak6	A	T	11: 58,592,495 (GRCm39)		probably benign	Het
Or2g7	C	T	17: 38,378,862 (GRCm39)	H267Y	probably benign	Het
Or2y17	A	T	11: 49,231,757 (GRCm39)	T133S	probably damaging	Het
Or5b114-ps1	C	A	19: 13,352,336 (GRCm39)	N3K	probably damaging	Het
Or8c11	T	A	9: 38,289,729 (GRCm39)	M184K	probably damaging	Het
Or8k16	A	G	2: 85,520,255 (GRCm39)	S161G	possibly damaging	Het
Pcdhb6	A	C	18: 37,469,329 (GRCm39)	Q750P	possibly damaging	Het
Plppr4	T	C	3: 117,153,683 (GRCm39)	Y72C	probably damaging	Het
Rasgrf2	G	T	13: 92,159,100 (GRCm39)		probably benign	Het
Sbk2	A	G	7: 4,961,905 (GRCm39)	I127T	probably damaging	Het
Smchd1	A	C	17: 71,722,039 (GRCm39)	S817A	probably benign	Het
Speer4b	A	T	5: 27,705,123 (GRCm39)	N83K	probably damaging	Het
Strc	A	T	2: 121,201,207 (GRCm39)	L1296Q	probably damaging	Het
Thap11	C	A	8: 106,582,215 (GRCm39)	R75S	possibly damaging	Het
Unc13a	A	C	8: 72,111,407 (GRCm39)	L268R	possibly damaging	Het
Zfp39	A	T	11: 58,781,269 (GRCm39)	C498S	unknown	Het
Zfp507	T	C	7: 35,494,978 (GRCm39)	T22A	possibly damaging	Het
Zfp85	T	C	13: 67,897,712 (GRCm39)	Y120C	probably benign	Het
Zfp882	G	A	8: 72,667,093 (GRCm39)		probably null	Het

Other mutations in Or52n4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01308:Or52n4b	APN	7	108,143,933 (GRCm39)	nonsense	probably null
IGL02031:Or52n4b	APN	7	108,144,137 (GRCm39)	missense	probably benign	0.03
IGL02426:Or52n4b	APN	7	108,144,187 (GRCm39)	missense	probably benign	0.01
IGL02502:Or52n4b	APN	7	108,143,846 (GRCm39)	missense	probably damaging	1.00
IGL03208:Or52n4b	APN	7	108,144,326 (GRCm39)	missense	probably benign	0.02
R0507:Or52n4b	UTSW	7	108,144,292 (GRCm39)	missense	probably damaging	0.98
R0967:Or52n4b	UTSW	7	108,143,996 (GRCm39)	missense	probably damaging	1.00
R1181:Or52n4b	UTSW	7	108,144,509 (GRCm39)	missense	probably benign	0.00
R1501:Or52n4b	UTSW	7	108,143,782 (GRCm39)	missense	probably benign
R1596:Or52n4b	UTSW	7	108,144,290 (GRCm39)	missense	possibly damaging	0.90
R1657:Or52n4b	UTSW	7	108,144,584 (GRCm39)	missense	possibly damaging	0.50
R1708:Or52n4b	UTSW	7	108,143,781 (GRCm39)	missense	probably benign	0.04
R2215:Or52n4b	UTSW	7	108,144,095 (GRCm39)	missense	probably damaging	1.00
R4131:Or52n4b	UTSW	7	108,143,744 (GRCm39)	nonsense	probably null
R4772:Or52n4b	UTSW	7	108,144,092 (GRCm39)	missense	probably damaging	0.98
R5009:Or52n4b	UTSW	7	108,144,055 (GRCm39)	missense	probably benign	0.01
R5297:Or52n4b	UTSW	7	108,144,611 (GRCm39)	missense	probably damaging	1.00
R5788:Or52n4b	UTSW	7	108,144,551 (GRCm39)	missense	probably damaging	0.97
R5944:Or52n4b	UTSW	7	108,144,484 (GRCm39)	missense	possibly damaging	0.90
R6522:Or52n4b	UTSW	7	108,144,202 (GRCm39)	missense	probably benign	0.09
R7339:Or52n4b	UTSW	7	108,144,107 (GRCm39)	missense	probably damaging	1.00
R7558:Or52n4b	UTSW	7	108,143,928 (GRCm39)	nonsense	probably null
R7585:Or52n4b	UTSW	7	108,144,598 (GRCm39)	missense	probably damaging	1.00
R9209:Or52n4b	UTSW	7	108,144,664 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTGCCTACCCTACTTTCGAG -3'
(R):5'- TGGTTTTCACTCCATAGACAACAG -3'

Sequencing Primer
(F):5'- CATACCTACTGTGACCACATGTCTG -3'
(R):5'- CTCCATAGACAACAGGGTTCATAGTG -3'

Posted On

2019-05-13