Mutagenetix > Incidental Mutation

Incidental Mutation 'R5117:Or13n4'

392681

Institutional Source

Beutler Lab

Gene Symbol

Or13n4

Ensembl Gene

ENSMUSG00000056863

Gene Name

olfactory receptor family 13 subfamily N member 4

Synonyms

GA_x6K02T2PBJ9-9202245-9201289, MOR260-4, Olfr702

MMRRC Submission

042705-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R5117 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106422696-106425950 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106422869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 288 (I288N)

Ref Sequence

ENSEMBL: ENSMUSP00000151862 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075414] [ENSMUST00000080899] [ENSMUST00000166880] [ENSMUST00000208864] [ENSMUST00000208895] [ENSMUST00000217739] [ENSMUST00000219803]

AlphaFold

Q920Z2

Predicted Effect

probably benign
Transcript: ENSMUST00000075414

SMART Domains

Protein: ENSMUSP00000074868
Gene: ENSMUSG00000036744

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2.9e-46	PFAM
Pfam:7tm_1	41	290	2.3e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000080899
AA Change: I288N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000079704
Gene: ENSMUSG00000056863
AA Change: I288N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	307	2.7e-53	PFAM
Pfam:7TM_GPCR_Srsx	35	300	2.9e-8	PFAM
Pfam:7tm_1	41	290	1.5e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166880

SMART Domains

Protein: ENSMUSP00000130958
Gene: ENSMUSG00000036744

Domain	Start	End	E-Value	Type
Pfam:7tm_1	41	290	5.8e-31	PFAM
Pfam:7tm_4	139	283	1.8e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000208864

Predicted Effect

probably benign
Transcript: ENSMUST00000208895

Predicted Effect

probably benign
Transcript: ENSMUST00000217739

Predicted Effect

probably damaging
Transcript: ENSMUST00000219803
AA Change: I288N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

100% (67/67)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	G	A	9: 124,055,715 (GRCm39)	T403I	probably benign	Het
4921509C19Rik	T	C	2: 151,314,460 (GRCm39)	E406G	probably benign	Het
Abca8b	T	C	11: 109,857,629 (GRCm39)	E641G	probably damaging	Het
Agrn	T	C	4: 156,270,010 (GRCm39)	N49S	probably benign	Het
Cacna1b	A	G	2: 24,622,340 (GRCm39)	S215P	probably damaging	Het
Cacna1g	T	A	11: 94,323,329 (GRCm39)	I1292F	probably damaging	Het
Card14	T	A	11: 119,229,076 (GRCm39)	I662N	probably damaging	Het
Cep135	A	G	5: 76,779,276 (GRCm39)	K762R	probably benign	Het
Ces1b	A	G	8: 93,799,837 (GRCm39)		probably null	Het
Erich6	T	G	3: 58,530,626 (GRCm39)	I448L	probably benign	Het
Fads3	T	G	19: 10,019,322 (GRCm39)		probably null	Het
Fam234a	A	G	17: 26,432,512 (GRCm39)	F546L	probably benign	Het
Fbxl9	T	A	8: 106,039,492 (GRCm39)	R595*	probably null	Het
Gm10717	T	C	9: 3,025,625 (GRCm39)	L70S	probably benign	Het
Gm11787	G	T	4: 3,509,524 (GRCm39)		noncoding transcript	Het
Gm5519	A	G	19: 33,802,471 (GRCm39)	*171W	probably null	Het
Grid2	T	C	6: 63,233,917 (GRCm39)	I26T	probably benign	Het
Hmcn2	T	G	2: 31,348,061 (GRCm39)	C4902W	possibly damaging	Het
Hsp90aa1	T	C	12: 110,661,698 (GRCm39)	N106S	possibly damaging	Het
Il18	A	T	9: 50,492,809 (GRCm39)	N125I	possibly damaging	Het
Ints9	G	T	14: 65,230,540 (GRCm39)	E156*	probably null	Het
Kalrn	T	C	16: 33,853,971 (GRCm39)		probably null	Het
Klkb1	A	T	8: 45,742,149 (GRCm39)	D43E	possibly damaging	Het
Lipo3	A	T	19: 33,536,952 (GRCm39)	M256K	probably benign	Het
Mapk6	C	A	9: 75,305,017 (GRCm39)	M133I	possibly damaging	Het
Med21	T	A	6: 146,548,781 (GRCm39)		probably benign	Het
Myrf	T	A	19: 10,189,857 (GRCm39)	E984V	probably damaging	Het
Naga	A	C	15: 82,221,657 (GRCm39)	M28R	probably damaging	Het
Nphp4	T	G	4: 152,608,689 (GRCm39)		probably null	Het
Nr1h4	T	C	10: 89,314,284 (GRCm39)	N295D	probably damaging	Het
Or10j27	T	C	1: 172,958,484 (GRCm39)	Q100R	possibly damaging	Het
Or55b3	T	C	7: 102,126,709 (GRCm39)	M123V	probably damaging	Het
Parp9	C	A	16: 35,792,202 (GRCm39)		probably null	Het
Pax4	T	C	6: 28,446,278 (GRCm39)	I72V	probably benign	Het
Pcdh7	A	G	5: 57,879,090 (GRCm39)	I542V	probably benign	Het
Pcdhgb7	C	T	18: 37,885,939 (GRCm39)	R370W	probably damaging	Het
Pik3r1	G	A	13: 101,828,744 (GRCm39)	T18I	probably benign	Het
Ppara	A	G	15: 85,661,962 (GRCm39)	I68V	probably benign	Het
Ptch2	T	A	4: 116,963,146 (GRCm39)	I211N	probably damaging	Het
Senp6	G	A	9: 80,038,028 (GRCm39)	V715M	probably damaging	Het
Serf2	C	T	2: 121,281,184 (GRCm39)	P41L	possibly damaging	Het
Serpina12	T	C	12: 104,004,009 (GRCm39)	I208V	possibly damaging	Het
Serpinf2	T	C	11: 75,323,326 (GRCm39)	D460G	probably benign	Het
Sh3d21	T	C	4: 126,045,665 (GRCm39)	E338G	probably damaging	Het
Slc7a11	T	C	3: 50,333,599 (GRCm39)	D384G	probably damaging	Het
Snx15	A	G	19: 6,174,181 (GRCm39)		probably null	Het
Supt16	A	G	14: 52,420,549 (GRCm39)	F84L	probably damaging	Het
Tamalin	A	G	15: 101,128,418 (GRCm39)	D152G	probably damaging	Het
Thoc2l	A	G	5: 104,668,121 (GRCm39)	Y881C	probably damaging	Het
Tm9sf2	C	A	14: 122,380,913 (GRCm39)	Q169K	probably benign	Het
Trim56	A	T	5: 137,142,832 (GRCm39)	V228E	probably benign	Het
Triqk	T	A	4: 12,980,390 (GRCm39)		probably null	Het
Ttc21a	T	A	9: 119,795,631 (GRCm39)	I1155N	possibly damaging	Het
Ube3b	T	G	5: 114,557,692 (GRCm39)	Y1059D	probably damaging	Het
Vmn2r14	T	C	5: 109,363,961 (GRCm39)	T652A	probably benign	Het
Wdr4	A	G	17: 31,718,798 (GRCm39)	V304A	probably benign	Het
Wwp2	T	C	8: 108,280,694 (GRCm39)	S646P	possibly damaging	Het
Zfand5	T	A	19: 21,257,009 (GRCm39)	S130T	probably benign	Het
Zfp599	A	T	9: 22,161,396 (GRCm39)	Y256*	probably null	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	Het
Zfyve16	T	A	13: 92,642,197 (GRCm39)	I1209L	possibly damaging	Het

Other mutations in Or13n4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01549:Or13n4	APN	7	106,423,236 (GRCm39)	missense	probably benign	0.01
IGL02120:Or13n4	APN	7	106,422,905 (GRCm39)	missense	possibly damaging	0.94
R0025:Or13n4	UTSW	7	106,422,963 (GRCm39)	missense	possibly damaging	0.74
R1213:Or13n4	UTSW	7	106,423,404 (GRCm39)	missense	possibly damaging	0.48
R1830:Or13n4	UTSW	7	106,423,317 (GRCm39)	missense	probably benign	0.00
R2216:Or13n4	UTSW	7	106,423,205 (GRCm39)	missense	probably damaging	0.99
R2571:Or13n4	UTSW	7	106,422,933 (GRCm39)	missense	probably benign	0.09
R2876:Or13n4	UTSW	7	106,423,664 (GRCm39)	missense	probably benign	0.07
R2920:Or13n4	UTSW	7	106,423,571 (GRCm39)	missense	probably benign	0.11
R4082:Or13n4	UTSW	7	106,423,245 (GRCm39)	missense	possibly damaging	0.78
R4130:Or13n4	UTSW	7	106,422,792 (GRCm39)	missense	probably benign	0.01
R4750:Or13n4	UTSW	7	106,423,514 (GRCm39)	missense	probably damaging	0.98
R5007:Or13n4	UTSW	7	106,423,364 (GRCm39)	missense	probably damaging	1.00
R5908:Or13n4	UTSW	7	106,423,404 (GRCm39)	missense	probably benign	0.09
R6824:Or13n4	UTSW	7	106,423,664 (GRCm39)	missense	probably benign	0.00
R7193:Or13n4	UTSW	7	106,423,798 (GRCm39)	start gained	probably benign
R7254:Or13n4	UTSW	7	106,422,777 (GRCm39)	makesense	probably null
R7827:Or13n4	UTSW	7	106,422,932 (GRCm39)	missense	probably benign	0.01
R8309:Or13n4	UTSW	7	106,423,620 (GRCm39)	missense	probably benign	0.00
R8410:Or13n4	UTSW	7	106,423,745 (GRCm39)	start gained	probably benign
R9353:Or13n4	UTSW	7	106,423,062 (GRCm39)	missense	probably benign	0.00
R9386:Or13n4	UTSW	7	106,423,707 (GRCm39)	missense	probably benign
R9562:Or13n4	UTSW	7	106,423,020 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATTCACAACACTCAAGGGAGG -3'
(R):5'- GGGAAGGCTCAAGGTCTTTTC -3'

Sequencing Primer
(F):5'- GCAGAGGAAAGAAATGTGATTTACTC -3'
(R):5'- GAAGGCTCAAGGTCTTTTCAACCTG -3'

Posted On

2016-06-15