Mutagenetix > Incidental Mutation

Incidental Mutation 'R1570:Or4n4'

177212

Institutional Source

Beutler Lab

Gene Symbol

Or4n4

Ensembl Gene

ENSMUSG00000091873

Gene Name

olfactory receptor family 4 subfamily N member 4

Synonyms

GA_x6K02T2PMLR-5975274-5974348, Olfr732, MOR241-1

MMRRC Submission

039609-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R1570 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50518685-50519728 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 50518981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 243 (H243P)

Ref Sequence

ENSEMBL: ENSMUSP00000148984 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071208] [ENSMUST00000213701]

AlphaFold

Q8VFT5

Predicted Effect

probably damaging
Transcript: ENSMUST00000071208
AA Change: H243P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000071195
Gene: ENSMUSG00000091873
AA Change: H243P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	305	7.4e-45	PFAM
Pfam:7tm_1	41	288	4.5e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213701
AA Change: H243P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Meta Mutation Damage Score

0.2966

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.0%

Validation Efficiency

93% (77/83)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apobec1	A	G	6: 122,568,044 (GRCm39)		probably null	Het
Arhgap21	G	T	2: 20,885,651 (GRCm39)	Q348K	probably benign	Het
Arl5c	A	G	11: 97,883,213 (GRCm39)	V129A	probably benign	Het
Armh1	A	G	4: 117,087,189 (GRCm39)	S159P	probably damaging	Het
Asb8	A	G	15: 98,034,309 (GRCm39)	L82P	probably damaging	Het
Bahcc1	G	A	11: 120,163,009 (GRCm39)	A436T	possibly damaging	Het
Btc	T	C	5: 91,550,576 (GRCm39)	D2G	unknown	Het
C1s2	G	A	6: 124,602,723 (GRCm39)	T490M	probably benign	Het
Caap1	C	T	4: 94,444,814 (GRCm39)	G43D	probably benign	Het
Ccr5	T	C	9: 123,925,000 (GRCm39)	V201A	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdhr5	C	A	7: 140,851,682 (GRCm39)	G541C	probably damaging	Het
Cep170	A	G	1: 176,583,367 (GRCm39)	I1004T	possibly damaging	Het
Chd9	A	T	8: 91,763,170 (GRCm39)	M2332L	probably benign	Het
Clk1	T	A	1: 58,453,584 (GRCm39)	H334L	probably benign	Het
Cyp4b1	G	A	4: 115,493,160 (GRCm39)	S228F	probably benign	Het
Dnah9	T	C	11: 66,003,156 (GRCm39)	N883D	probably benign	Het
Dync2h1	A	G	9: 7,176,926 (GRCm39)	L11P	probably benign	Het
Ephx4	A	G	5: 107,567,717 (GRCm39)	E225G	probably damaging	Het
Erich6	C	T	3: 58,538,080 (GRCm39)		probably null	Het
Espl1	A	G	15: 102,206,802 (GRCm39)	T89A	probably damaging	Het
Evi2	T	A	11: 79,407,076 (GRCm39)	K166N	possibly damaging	Het
Glrx5	A	G	12: 104,999,127 (GRCm39)	T57A	possibly damaging	Het
Gnptab	T	A	10: 88,255,316 (GRCm39)	V222E	probably damaging	Het
Gpr155	T	C	2: 73,200,382 (GRCm39)	Y375C	possibly damaging	Het
Hsd11b1	C	G	1: 192,922,635 (GRCm39)	E141Q	probably damaging	Het
Ildr2	T	C	1: 166,131,154 (GRCm39)	F337L	probably damaging	Het
Ino80	C	T	2: 119,277,509 (GRCm39)	R322Q	possibly damaging	Het
Lcp2	A	G	11: 34,039,601 (GRCm39)	D467G	probably benign	Het
Lmbr1	A	G	5: 29,459,556 (GRCm39)	I229T	probably damaging	Het
Lnpep	A	T	17: 17,799,418 (GRCm39)	M79K	probably damaging	Het
Lpin1	T	C	12: 16,610,999 (GRCm39)	Q564R	possibly damaging	Het
Lpin2	T	A	17: 71,552,176 (GRCm39)	L794*	probably null	Het
Lrrc37	A	G	11: 103,500,764 (GRCm39)	Y597H	possibly damaging	Het
Lrrc45	T	C	11: 120,610,935 (GRCm39)		probably null	Het
Mtus1	A	G	8: 41,529,278 (GRCm39)	S751P	probably damaging	Het
Nbr1	T	C	11: 101,455,656 (GRCm39)		probably benign	Het
Nup107	A	G	10: 117,599,749 (GRCm39)	F592S	possibly damaging	Het
Nup133	T	A	8: 124,675,915 (GRCm39)	M1L	possibly damaging	Het
Or2a20	T	C	6: 43,194,285 (GRCm39)	V146A	probably benign	Het
Or3a10	A	C	11: 73,935,633 (GRCm39)	F156V	possibly damaging	Het
Or4p8	A	C	2: 88,727,290 (GRCm39)	I217S	probably damaging	Het
Or52b4i	C	A	7: 102,191,177 (GRCm39)	H11Q	probably damaging	Het
Or8i2	A	T	2: 86,852,616 (GRCm39)	S91T	probably benign	Het
Otud7b	T	C	3: 96,063,208 (GRCm39)	C816R	probably damaging	Het
Pi4k2a	T	C	19: 42,089,083 (GRCm39)	V148A	probably benign	Het
Pih1d2	T	C	9: 50,532,479 (GRCm39)	M195T	probably benign	Het
Pira13	T	C	7: 3,826,060 (GRCm39)	E311G	probably benign	Het
Plpp6	T	C	19: 28,942,178 (GRCm39)	F260L	probably damaging	Het
R3hcc1l	A	T	19: 42,570,393 (GRCm39)	T663S	probably damaging	Het
Rnf25	T	C	1: 74,634,426 (GRCm39)	E199G	probably damaging	Het
Scin	G	A	12: 40,134,380 (GRCm39)		probably benign	Het
Serpinb1c	A	T	13: 33,080,973 (GRCm39)	S37T	probably benign	Het
Snx19	A	G	9: 30,339,639 (GRCm39)	D259G	probably damaging	Het
Sorcs3	A	G	19: 48,752,620 (GRCm39)	K805R	probably damaging	Het
Sox6	C	A	7: 115,376,358 (GRCm39)	G125W	probably damaging	Het
Spink5	A	G	18: 44,100,174 (GRCm39)	I64V	probably benign	Het
Spmip10	T	A	18: 56,727,606 (GRCm39)	D101E	probably benign	Het
St6galnac1	A	G	11: 116,657,474 (GRCm39)		probably benign	Het
Sult1c2	T	C	17: 54,143,991 (GRCm39)	I105V	probably benign	Het
Tacr3	T	G	3: 134,535,517 (GRCm39)	S162A	probably damaging	Het
Ttc6	T	C	12: 57,721,549 (GRCm39)	S1013P	probably damaging	Het
Zbtb11	C	A	16: 55,811,178 (GRCm39)	N445K	probably benign	Het
Zfp423	A	C	8: 88,509,186 (GRCm39)	V261G	probably benign	Het
Zfp59	T	C	7: 27,553,016 (GRCm39)	V156A	probably benign	Het
Zscan2	C	A	7: 80,513,141 (GRCm39)	A42E	probably damaging	Het

Other mutations in Or4n4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01370:Or4n4	APN	14	50,519,689 (GRCm39)	missense	probably damaging	0.99
IGL01801:Or4n4	APN	14	50,519,665 (GRCm39)	missense	probably benign
IGL01992:Or4n4	APN	14	50,518,798 (GRCm39)	missense	probably benign	0.09
IGL02137:Or4n4	APN	14	50,519,135 (GRCm39)	missense	probably benign	0.16
IGL02494:Or4n4	APN	14	50,519,683 (GRCm39)	missense	probably damaging	1.00
IGL02606:Or4n4	APN	14	50,519,530 (GRCm39)	missense	probably damaging	1.00
IGL02799:Or4n4	UTSW	14	50,518,801 (GRCm39)	missense	probably benign
PIT4142001:Or4n4	UTSW	14	50,518,784 (GRCm39)	makesense	probably null
R0570:Or4n4	UTSW	14	50,519,370 (GRCm39)	missense	probably benign	0.00
R1860:Or4n4	UTSW	14	50,518,848 (GRCm39)	nonsense	probably null
R2313:Or4n4	UTSW	14	50,519,431 (GRCm39)	missense	probably damaging	1.00
R4594:Or4n4	UTSW	14	50,519,140 (GRCm39)	missense	probably benign	0.02
R6442:Or4n4	UTSW	14	50,518,826 (GRCm39)	missense	probably damaging	0.98
R6783:Or4n4	UTSW	14	50,519,644 (GRCm39)	missense	probably benign
R7334:Or4n4	UTSW	14	50,519,036 (GRCm39)	missense	probably benign	0.08
R7763:Or4n4	UTSW	14	50,518,945 (GRCm39)	missense	probably damaging	1.00
R8207:Or4n4	UTSW	14	50,519,036 (GRCm39)	missense	probably benign	0.02
R8228:Or4n4	UTSW	14	50,518,997 (GRCm39)	missense	probably damaging	1.00
R8806:Or4n4	UTSW	14	50,519,236 (GRCm39)	missense	probably benign	0.04
R8809:Or4n4	UTSW	14	50,519,236 (GRCm39)	missense	probably benign	0.04
R8898:Or4n4	UTSW	14	50,518,952 (GRCm39)	missense	probably damaging	1.00
R8962:Or4n4	UTSW	14	50,518,816 (GRCm39)	missense	possibly damaging	0.95
R9800:Or4n4	UTSW	14	50,519,701 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- caagccagcacaAAGACCTTAGGAG -3'
(R):5'- AGCCCTAGAGCCTGCTATGTGATG -3'

Sequencing Primer
(F):5'- GCCTATATCCTTCCTGAAAAATGAG -3'
(R):5'- TGATGTCCCACAGGTCATCAAG -3'

Posted On

2014-04-24