Mutagenetix > Incidental Mutation

Incidental Mutation 'R4210:Or6n2'

319102

Institutional Source

Beutler Lab

Gene Symbol

Or6n2

Ensembl Gene

ENSMUSG00000050134

Gene Name

olfactory receptor family 6 subfamily N member 2

Synonyms

GA_x6K02T2P20D-21108443-21107490, MOR105-5P, Olfr430

MMRRC Submission

041039-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R4210 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

173896866-173897819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 173897574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 237 (A237T)

Ref Sequence

ENSEMBL: ENSMUSP00000150930 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055873] [ENSMUST00000213425] [ENSMUST00000214390]

AlphaFold

E9Q5F1

Predicted Effect

probably damaging
Transcript: ENSMUST00000055873
AA Change: A237T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130615
Gene: ENSMUSG00000050134
AA Change: A237T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.4e-65	PFAM
Pfam:7tm_1	41	290	9.9e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213425
AA Change: A237T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214390
AA Change: A237T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

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]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	T	2: 68,490,222 (GRCm39)		probably benign	Het
Abl1	T	C	2: 31,691,708 (GRCm39)	Y1076H	probably damaging	Het
Adamts7	C	T	9: 90,076,063 (GRCm39)	T1265I	possibly damaging	Het
Adgb	T	C	10: 10,283,209 (GRCm39)	I166V	probably benign	Het
Axin2	T	A	11: 108,833,402 (GRCm39)	I529N	possibly damaging	Het
Bbof1	T	C	12: 84,455,957 (GRCm39)	M1T	probably null	Het
Clcc1	A	T	3: 108,570,907 (GRCm39)	Y105F	possibly damaging	Het
Cmpk2	G	T	12: 26,519,570 (GRCm39)	A74S	probably benign	Het
Colgalt1	G	A	8: 72,075,350 (GRCm39)	V419I	probably benign	Het
Crybg3	A	G	16: 59,364,414 (GRCm39)	S2403P	probably damaging	Het
D930048N14Rik	G	A	11: 51,545,632 (GRCm39)		probably benign	Het
Dnah7b	T	A	1: 46,176,578 (GRCm39)	C733S	possibly damaging	Het
Drc1	G	A	5: 30,504,490 (GRCm39)	V211M	possibly damaging	Het
Ephx2	T	C	14: 66,322,393 (GRCm39)	T525A	probably damaging	Het
Eya4	A	G	10: 23,102,698 (GRCm39)		probably null	Het
Foxc1	T	C	13: 31,991,690 (GRCm39)	F167S	probably damaging	Het
Fsip2	C	T	2: 82,805,493 (GRCm39)	T604I	probably damaging	Het
Gm6370	C	A	5: 146,430,734 (GRCm39)	F306L	possibly damaging	Het
Hmgcr	A	G	13: 96,796,729 (GRCm39)	V187A	probably damaging	Het
Igkv9-129	T	A	6: 67,817,242 (GRCm39)	S114R	possibly damaging	Het
Ikbke	T	A	1: 131,191,085 (GRCm39)	I519F	probably damaging	Het
Ikzf3	T	C	11: 98,381,313 (GRCm39)	Y89C	probably benign	Het
Inpp5j	T	G	11: 3,451,107 (GRCm39)	H514P	probably damaging	Het
Iqsec3	T	C	6: 121,389,999 (GRCm39)		probably benign	Het
Itga3	C	A	11: 94,953,449 (GRCm39)	V298L	probably benign	Het
Kel	C	T	6: 41,675,359 (GRCm39)	W297*	probably null	Het
Larp7	T	A	3: 127,340,603 (GRCm39)	R112S	probably benign	Het
Lbh	T	A	17: 73,228,178 (GRCm39)		probably null	Het
Lrba	G	A	3: 86,267,433 (GRCm39)	G1708S	probably damaging	Het
Lrig2	C	T	3: 104,374,620 (GRCm39)	V154I	probably benign	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mast4	A	T	13: 102,875,713 (GRCm39)	F1318L	probably damaging	Het
Ncam2	T	C	16: 81,323,991 (GRCm39)	V545A	probably benign	Het
Numa1	T	G	7: 101,658,945 (GRCm39)	L356R	probably damaging	Het
Or2w1	A	T	13: 21,317,607 (GRCm39)	I221L	possibly damaging	Het
Pcgf5	C	A	19: 36,414,740 (GRCm39)	N26K	possibly damaging	Het
Pdlim4	T	G	11: 53,946,744 (GRCm39)	D181A	possibly damaging	Het
Phtf1	G	A	3: 103,910,919 (GRCm39)		probably null	Het
Pik3r4	G	A	9: 105,527,957 (GRCm39)	A437T	possibly damaging	Het
Proser3	G	A	7: 30,245,525 (GRCm39)		probably benign	Het
Rax	T	A	18: 66,068,152 (GRCm39)	N318Y	unknown	Het
Rnf152	A	G	1: 105,212,077 (GRCm39)	V160A	probably benign	Het
Serpina3a	A	T	12: 104,084,902 (GRCm39)	D99V	probably benign	Het
Sidt2	T	C	9: 45,854,073 (GRCm39)	T652A	probably benign	Het
Slc12a7	A	G	13: 73,962,962 (GRCm39)	Y1054C	probably damaging	Het
Slc9a5	A	G	8: 106,085,103 (GRCm39)	N535D	possibly damaging	Het
Sspo	C	A	6: 48,441,835 (GRCm39)	H1948Q	probably benign	Het
Stap2	G	T	17: 56,304,827 (GRCm39)	Y318*	probably null	Het
Sytl1	T	C	4: 132,980,876 (GRCm39)	D421G	probably damaging	Het
Taar7e	A	T	10: 23,913,932 (GRCm39)	I141F	probably damaging	Het
Taar7f	T	A	10: 23,925,921 (GRCm39)	W172R	probably damaging	Het
Tcn2	T	C	11: 3,872,114 (GRCm39)	K338E	possibly damaging	Het
Tenm3	C	T	8: 48,802,439 (GRCm39)	G374D	probably damaging	Het
Terf2	A	G	8: 107,806,080 (GRCm39)	S291P	probably damaging	Het
Tex16	T	A	X: 111,030,640 (GRCm39)	D1046E	probably benign	Het
Tmod4	A	G	3: 95,035,140 (GRCm39)	D215G	probably benign	Het
Tnxb	T	C	17: 34,929,951 (GRCm39)	I2895T	possibly damaging	Het
Tsbp1	G	T	17: 34,679,257 (GRCm39)		probably benign	Het
Urgcp	C	A	11: 5,665,878 (GRCm39)	G820V	probably damaging	Het
Uxs1	T	A	1: 43,789,398 (GRCm39)	H419L	possibly damaging	Het
Vmn1r152	A	T	7: 22,223,004 (GRCm39)	T205S	possibly damaging	Het
Vmn1r79	A	G	7: 11,910,415 (GRCm39)	Y99C	possibly damaging	Het
Zc3h14	A	G	12: 98,751,658 (GRCm39)	H199R	probably damaging	Het
Zfand2b	A	T	1: 75,146,454 (GRCm39)	M110L	probably benign	Het
Zfp976	A	G	7: 42,265,749 (GRCm39)	F12S	probably damaging	Het

Other mutations in Or6n2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:Or6n2	APN	1	173,897,632 (GRCm39)	missense	probably benign	0.00
IGL02279:Or6n2	APN	1	173,896,957 (GRCm39)	missense	probably null	1.00
IGL02537:Or6n2	APN	1	173,897,020 (GRCm39)	missense	possibly damaging	0.63
R0323:Or6n2	UTSW	1	173,896,893 (GRCm39)	missense	probably benign
R0627:Or6n2	UTSW	1	173,897,643 (GRCm39)	missense	probably damaging	1.00
R1079:Or6n2	UTSW	1	173,897,032 (GRCm39)	missense	possibly damaging	0.95
R1757:Or6n2	UTSW	1	173,897,224 (GRCm39)	missense	probably damaging	1.00
R1902:Or6n2	UTSW	1	173,897,692 (GRCm39)	missense	probably damaging	0.96
R3804:Or6n2	UTSW	1	173,897,474 (GRCm39)	missense	probably damaging	1.00
R3927:Or6n2	UTSW	1	173,896,878 (GRCm39)	missense	probably damaging	1.00
R3930:Or6n2	UTSW	1	173,897,147 (GRCm39)	missense	probably damaging	1.00
R3931:Or6n2	UTSW	1	173,897,147 (GRCm39)	missense	probably damaging	1.00
R4111:Or6n2	UTSW	1	173,896,999 (GRCm39)	missense	probably damaging	1.00
R4383:Or6n2	UTSW	1	173,897,043 (GRCm39)	missense	probably benign	0.34
R4651:Or6n2	UTSW	1	173,897,394 (GRCm39)	missense	possibly damaging	0.54
R5097:Or6n2	UTSW	1	173,897,095 (GRCm39)	missense	probably benign	0.22
R5385:Or6n2	UTSW	1	173,897,036 (GRCm39)	missense	probably benign	0.31
R5722:Or6n2	UTSW	1	173,897,436 (GRCm39)	missense	probably damaging	1.00
R6608:Or6n2	UTSW	1	173,897,295 (GRCm39)	missense	probably benign	0.00
R6643:Or6n2	UTSW	1	173,897,611 (GRCm39)	missense	probably damaging	1.00
R7316:Or6n2	UTSW	1	173,897,727 (GRCm39)	missense	probably benign	0.00
R7532:Or6n2	UTSW	1	173,897,664 (GRCm39)	missense	probably benign	0.37
R8141:Or6n2	UTSW	1	173,897,488 (GRCm39)	missense	probably damaging	0.99
R9102:Or6n2	UTSW	1	173,897,176 (GRCm39)	missense	probably damaging	1.00
R9351:Or6n2	UTSW	1	173,897,021 (GRCm39)	missense	probably benign	0.00
Z1088:Or6n2	UTSW	1	173,897,515 (GRCm39)	missense	probably damaging	1.00
Z1176:Or6n2	UTSW	1	173,897,080 (GRCm39)	missense	probably damaging	0.99
Z1176:Or6n2	UTSW	1	173,896,897 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGGTTATCCTTGTCTCTCAGC -3'
(R):5'- TGGCCTGAATGAGTTCCTTG -3'

Sequencing Primer
(F):5'- AGCTCCCCTTCTGTAACTATAATGAG -3'
(R):5'- CTGAATGAGTTCCTTGTTTCGAAGAC -3'

Posted On

2015-06-10