Mutagenetix > Incidental Mutation

Incidental Mutation 'R8493:Or13p4'

658106

Institutional Source

Beutler Lab

Gene Symbol

Or13p4

Ensembl Gene

ENSMUSG00000043383

Gene Name

olfactory receptor family 13 subfamily P member 4

Synonyms

GA_x6K02T2QD9B-18856980-18857927, MOR258-3, Olfr1342

MMRRC Submission

067935-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R8493 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118546349-118550231 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 118547229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 140 (S140N)

Ref Sequence

ENSEMBL: ENSMUSP00000149966 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060562] [ENSMUST00000216226]

AlphaFold

Q8VFY3

Predicted Effect

probably benign
Transcript: ENSMUST00000060562
AA Change: S140N

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000053925
Gene: ENSMUSG00000043383
AA Change: S140N

Domain	Start	End	E-Value	Type
low complexity region	10	24	N/A	INTRINSIC
Pfam:7tm_4	34	311	1.5e-55	PFAM
Pfam:7TM_GPCR_Srsx	38	243	1.6e-5	PFAM
Pfam:7tm_1	44	293	4.2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216226
AA Change: S140N

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,653,453 (GRCm39)	M1L	unknown	Het
Abca13	T	A	11: 9,460,668 (GRCm39)	I4226N	probably damaging	Het
Ankrd10	C	A	8: 11,678,518 (GRCm39)	E125*	probably null	Het
Apob	A	T	12: 8,059,009 (GRCm39)	D2497V	possibly damaging	Het
Arap1	G	A	7: 101,035,725 (GRCm39)	W87*	probably null	Het
Arhgef37	C	T	18: 61,640,277 (GRCm39)	V261I	probably benign	Het
Arl4a	A	C	12: 40,086,472 (GRCm39)	C92G	probably benign	Het
Arrdc2	C	T	8: 71,289,501 (GRCm39)		probably null	Het
Atg16l1	A	C	1: 87,706,704 (GRCm39)	T355P	probably damaging	Het
Card14	T	G	11: 119,224,435 (GRCm39)		probably null	Het
Cd109	G	A	9: 78,564,801 (GRCm39)	V249I	probably benign	Het
Cdhr4	A	G	9: 107,873,453 (GRCm39)	D395G	probably damaging	Het
Celsr1	C	A	15: 85,822,207 (GRCm39)	M1703I	possibly damaging	Het
Cfap157	A	G	2: 32,669,752 (GRCm39)	I277T	probably benign	Het
Chst4	A	G	8: 110,757,095 (GRCm39)	V173A	probably damaging	Het
Clca4b	T	C	3: 144,617,911 (GRCm39)	N731D	probably benign	Het
Col11a2	A	G	17: 34,278,936 (GRCm39)	E1122G	possibly damaging	Het
Csf1r	C	G	18: 61,247,954 (GRCm39)	P341A	probably damaging	Het
Dclk3	A	G	9: 111,297,215 (GRCm39)	E253G	probably benign	Het
Dnah2	T	A	11: 69,343,804 (GRCm39)	D2829V	probably damaging	Het
Dnah7a	T	C	1: 53,512,067 (GRCm39)	N2998S	probably damaging	Het
Ehbp1	C	T	11: 22,235,842 (GRCm39)		probably benign	Het
Eprs1	A	T	1: 185,139,371 (GRCm39)	K919*	probably null	Het
Esp16	A	T	17: 39,850,821 (GRCm39)	K67*	probably null	Het
Fam169a	G	T	13: 97,259,367 (GRCm39)	E474D	probably benign	Het
Fam83h	C	T	15: 75,874,502 (GRCm39)	R945H	probably benign	Het
Flnb	T	A	14: 7,869,822 (GRCm38)	V195E	probably damaging	Het
Gm3159	T	C	14: 4,398,567 (GRCm38)	I86T	probably damaging	Het
Gm4744	G	A	6: 40,926,281 (GRCm39)	S103F		Het
Gvin2	A	G	7: 105,548,088 (GRCm39)	S1655P	probably benign	Het
Ift122	T	A	6: 115,887,292 (GRCm39)	I713N	probably benign	Het
Ilkap	A	G	1: 91,306,266 (GRCm39)	I105T	probably damaging	Het
Isl1	G	T	13: 116,441,835 (GRCm39)	H133N	possibly damaging	Het
Jade1	T	A	3: 41,559,113 (GRCm39)	L398Q	possibly damaging	Het
Kcnh7	C	T	2: 62,681,003 (GRCm39)	V195M	probably benign	Het
Kif3a	A	T	11: 53,489,627 (GRCm39)	K669*	probably null	Het
L3mbtl4	G	A	17: 68,937,239 (GRCm39)	R420H	probably damaging	Het
Mrgprb1	A	T	7: 48,097,321 (GRCm39)	I197N	probably damaging	Het
Mthfd1	A	G	12: 76,340,929 (GRCm39)	T263A	probably damaging	Het
Mtmr7	G	A	8: 41,059,927 (GRCm39)	A62V	possibly damaging	Het
Naxe	A	G	3: 87,965,757 (GRCm39)		probably benign	Het
Ndufs2	T	C	1: 171,068,677 (GRCm39)	T51A	probably benign	Het
Nlrc5	T	A	8: 95,249,848 (GRCm39)	L1824Q	probably damaging	Het
Notch1	A	G	2: 26,362,251 (GRCm39)	V27A	unknown	Het
Nucks1	A	T	1: 131,857,473 (GRCm39)	M169L	probably benign	Het
Or10ag53	T	A	2: 87,083,215 (GRCm39)	D311E	probably benign	Het
Or4a80	T	A	2: 89,582,599 (GRCm39)	Y191F	probably benign	Het
Or4k45	T	A	2: 111,395,324 (GRCm39)	H155L	probably damaging	Het
Or51aa2	A	T	7: 103,187,479 (GRCm39)	S321T	probably benign	Het
Or52n20	G	T	7: 104,320,022 (GRCm39)	V38L	probably benign	Het
Or5w10	T	A	2: 87,375,114 (GRCm39)	Y258F	probably damaging	Het
Pcnt	C	T	10: 76,239,457 (GRCm39)		probably null	Het
Pdcd7	T	C	9: 65,254,039 (GRCm39)	S206P	probably benign	Het
Pdia4	A	T	6: 47,773,575 (GRCm39)	Y591*	probably null	Het
Pgap6	G	T	17: 26,340,931 (GRCm39)	R678L	probably damaging	Het
Plxna4	C	T	6: 32,192,647 (GRCm39)	M771I	probably benign	Het
Pramel47	C	T	5: 95,488,092 (GRCm39)	H9Y	possibly damaging	Het
Ptpn13	A	G	5: 103,712,031 (GRCm39)	Y1643C	probably damaging	Het
Ptpn13	A	G	5: 103,717,671 (GRCm39)	I1906V	probably benign	Het
Rab33b	T	A	3: 51,391,795 (GRCm39)	S15T	probably benign	Het
Rasip1	A	T	7: 45,284,467 (GRCm39)	M644L	possibly damaging	Het
Rnf4	G	A	5: 34,506,035 (GRCm39)	C55Y	probably damaging	Het
Sel1l	A	T	12: 91,780,735 (GRCm39)	Y585*	probably null	Het
Slc40a1	A	T	1: 45,950,576 (GRCm39)	F292Y	probably damaging	Het
Smarca4	G	A	9: 21,570,144 (GRCm39)	D716N	probably damaging	Het
Sp7	T	A	15: 102,266,837 (GRCm39)	H323L	possibly damaging	Het
Speer1m	T	C	5: 11,971,489 (GRCm39)	L147P	probably damaging	Het
Sprtn	A	G	8: 125,629,933 (GRCm39)	S409G	probably benign	Het
St3gal2	T	G	8: 111,688,853 (GRCm39)	L131R	probably damaging	Het
Tctn1	A	G	5: 122,399,552 (GRCm39)	C91R	probably damaging	Het
Tgm1	A	T	14: 55,937,754 (GRCm39)	V785E	probably damaging	Het
Topaz1	G	T	9: 122,579,573 (GRCm39)	V828L	probably benign	Het
Triobp	C	T	15: 78,878,326 (GRCm39)	H1750Y	possibly damaging	Het
Ttc27	G	A	17: 75,050,047 (GRCm39)		probably null	Het
Usp2	G	A	9: 43,987,350 (GRCm39)	G216D	possibly damaging	Het
Vmn2r99	A	G	17: 19,614,020 (GRCm39)	D580G	probably benign	Het
Wbp1l	G	A	19: 46,640,988 (GRCm39)	R106H	possibly damaging	Het
Zmym2	G	T	14: 57,151,606 (GRCm39)	C497F	probably damaging	Het

Other mutations in Or13p4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01823:Or13p4	APN	4	118,546,918 (GRCm39)	missense	probably damaging	1.00
IGL02391:Or13p4	APN	4	118,547,538 (GRCm39)	missense	probably damaging	1.00
R0648:Or13p4	UTSW	4	118,547,269 (GRCm39)	missense	probably benign
R1565:Or13p4	UTSW	4	118,547,389 (GRCm39)	missense	probably damaging	1.00
R1675:Or13p4	UTSW	4	118,547,145 (GRCm39)	missense	probably benign	0.00
R1823:Or13p4	UTSW	4	118,547,389 (GRCm39)	missense	probably damaging	1.00
R2343:Or13p4	UTSW	4	118,547,384 (GRCm39)	missense	probably benign	0.30
R4618:Or13p4	UTSW	4	118,546,667 (GRCm39)	utr 3 prime	probably benign
R4941:Or13p4	UTSW	4	118,547,089 (GRCm39)	missense	possibly damaging	0.76
R5408:Or13p4	UTSW	4	118,547,641 (GRCm39)	missense	probably benign	0.00
R5587:Or13p4	UTSW	4	118,547,067 (GRCm39)	missense	probably damaging	1.00
R5895:Or13p4	UTSW	4	118,547,314 (GRCm39)	missense	probably damaging	0.97
R6023:Or13p4	UTSW	4	118,547,271 (GRCm39)	missense	probably damaging	1.00
R6307:Or13p4	UTSW	4	118,547,145 (GRCm39)	missense	probably benign	0.00
R6324:Or13p4	UTSW	4	118,547,728 (GRCm39)	start gained	probably benign
R6890:Or13p4	UTSW	4	118,546,728 (GRCm39)	missense	possibly damaging	0.72
R7218:Or13p4	UTSW	4	118,547,215 (GRCm39)	missense	probably benign
R7408:Or13p4	UTSW	4	118,546,859 (GRCm39)	missense	probably damaging	0.98
R7555:Or13p4	UTSW	4	118,546,839 (GRCm39)	missense	possibly damaging	0.94
R7749:Or13p4	UTSW	4	118,547,425 (GRCm39)	missense	probably damaging	1.00
R8098:Or13p4	UTSW	4	118,547,406 (GRCm39)	missense	possibly damaging	0.88
R9445:Or13p4	UTSW	4	118,547,416 (GRCm39)	missense	probably damaging	0.98
R9500:Or13p4	UTSW	4	118,546,930 (GRCm39)	missense	possibly damaging	0.91
Z1176:Or13p4	UTSW	4	118,547,469 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- AGTCCAAGCGGTCATTGAAGG -3'
(R):5'- CTCTTTGGTAGACATGAGTTACGTC -3'

Sequencing Primer
(F):5'- CATTGAAGGATGTGTCTGCAC -3'
(R):5'- GGTAGACATGAGTTACGTCACTACC -3'

Posted On

2021-01-18