Mutagenetix > Incidental Mutation

Incidental Mutation 'R2237:Or13p3'

240432

Institutional Source

Beutler Lab

Gene Symbol

Or13p3

Ensembl Gene

ENSMUSG00000046790

Gene Name

olfactory receptor family 13 subfamily P member 3

Synonyms

GA_x6K02T2QD9B-18838170-18837232, MOR258-1, Olfr1341

MMRRC Submission

040237-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R2237 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118566606-118567544 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118567192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 196 (D196G)

Ref Sequence

ENSEMBL: ENSMUSP00000149466 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061215] [ENSMUST00000214131] [ENSMUST00000215117]

AlphaFold

Q7TQV4

Predicted Effect

probably damaging
Transcript: ENSMUST00000061215
AA Change: D196G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095523
Gene: ENSMUSG00000046790
AA Change: D196G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	306	8.4e-54	PFAM
Pfam:7TM_GPCR_Srsx	35	304	1.5e-7	PFAM
Pfam:7tm_1	41	290	1.7e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214131
AA Change: D196G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215117
AA Change: D196G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	C	8: 25,136,303 (GRCm39)	E406G	probably benign	Het
Alox8	A	C	11: 69,076,597 (GRCm39)	S572A	probably benign	Het
Aoah	G	A	13: 20,978,481 (GRCm39)		probably benign	Het
Arhgap36	G	T	X: 48,582,282 (GRCm39)	V60L	possibly damaging	Het
Arhgef37	T	A	18: 61,637,477 (GRCm39)	Y395F	probably damaging	Het
Bard1	G	A	1: 71,114,135 (GRCm39)	P282L	probably damaging	Het
Brd7	T	A	8: 89,073,541 (GRCm39)	E283V	probably benign	Het
Btbd9	T	C	17: 30,553,302 (GRCm39)	I387V	probably benign	Het
Cacna1a	T	C	8: 85,360,394 (GRCm39)		probably null	Het
Cacna1c	T	C	6: 118,629,704 (GRCm39)	Q1205R	possibly damaging	Het
Camsap2	A	T	1: 136,273,069 (GRCm39)	L36Q	probably damaging	Het
Ccnj	T	C	19: 40,834,219 (GRCm39)	F261L	probably benign	Het
Cd200r4	T	A	16: 44,641,260 (GRCm39)	M1K	probably null	Het
Cdca7l	A	G	12: 117,837,761 (GRCm39)	E237G	probably damaging	Het
Cep128	T	C	12: 91,314,341 (GRCm39)	T146A	probably benign	Het
Clhc1	T	G	11: 29,519,329 (GRCm39)	S379A	probably benign	Het
Dbf4	T	A	5: 8,458,542 (GRCm39)	I158L	possibly damaging	Het
Deup1	A	C	9: 15,486,597 (GRCm39)	I455S	probably damaging	Het
Dlec1	T	C	9: 118,967,259 (GRCm39)		probably null	Het
Eomes	A	G	9: 118,311,359 (GRCm39)	D394G	probably damaging	Het
Epn1	A	G	7: 5,100,601 (GRCm39)	N518S	probably damaging	Het
Espl1	G	A	15: 102,224,004 (GRCm39)	R1185H	probably damaging	Het
Evc2	T	C	5: 37,535,527 (GRCm39)	S401P	probably benign	Het
Fbxw15	A	G	9: 109,384,303 (GRCm39)	S403P	probably damaging	Het
Hsd17b1	G	A	11: 100,970,652 (GRCm39)	V236M	probably damaging	Het
Htatsf1	G	T	X: 56,111,864 (GRCm39)	D642Y	unknown	Het
Iqca1l	A	T	5: 24,753,292 (GRCm39)	N453K	probably benign	Het
Itpripl2	T	C	7: 118,089,294 (GRCm39)	T422A	probably benign	Het
Izumo4	T	C	10: 80,538,664 (GRCm39)	S39P	probably damaging	Het
Kcnh5	T	A	12: 75,054,493 (GRCm39)	M484L	probably benign	Het
Kctd8	T	A	5: 69,267,752 (GRCm39)	I453F	probably damaging	Het
Kif5c	A	G	2: 49,584,020 (GRCm39)	T152A	probably benign	Het
Kntc1	T	C	5: 123,941,733 (GRCm39)	V1809A	possibly damaging	Het
L3mbtl2	A	T	15: 81,568,531 (GRCm39)	T512S	probably benign	Het
Ltbp1	C	A	17: 75,617,158 (GRCm39)	D1032E	probably benign	Het
Mindy4	T	C	6: 55,278,055 (GRCm39)	F633S	probably damaging	Het
Muc5b	T	G	7: 141,415,826 (GRCm39)	I2924S	probably benign	Het
Nfe2l2	G	A	2: 75,506,898 (GRCm39)	P401S	probably benign	Het
Nid1	T	C	13: 13,675,070 (GRCm39)	V930A	probably benign	Het
Nt5c1b	C	A	12: 10,425,558 (GRCm39)	T309K	probably damaging	Het
Nt5m	A	G	11: 59,743,696 (GRCm39)	K108R	probably benign	Het
Or10v5	T	C	19: 11,805,814 (GRCm39)	D192G	probably damaging	Het
Osbpl9	T	A	4: 109,013,854 (GRCm39)	Q80L	probably damaging	Het
Osm	A	G	11: 4,188,505 (GRCm39)	N44S	possibly damaging	Het
Pclo	C	T	5: 14,763,952 (GRCm39)	P4142S	unknown	Het
Pdlim2	T	G	14: 70,408,698 (GRCm39)	T173P	probably benign	Het
Pex1	T	C	5: 3,668,915 (GRCm39)		probably null	Het
Phka2	A	G	X: 159,324,408 (GRCm39)	E254G	probably damaging	Het
Pik3cb	A	G	9: 98,923,081 (GRCm39)	Y984H	probably damaging	Het
Plscr2	T	C	9: 92,172,877 (GRCm39)	C179R	probably damaging	Het
Rbpms2	C	A	9: 65,558,893 (GRCm39)	Y183*	probably null	Het
Ryr2	T	A	13: 11,677,146 (GRCm39)	E3235V	probably benign	Het
Sesn3	T	C	9: 14,219,761 (GRCm39)	V50A	probably benign	Het
Siglecf	T	C	7: 43,004,409 (GRCm39)	V246A	probably benign	Het
Sp2	C	T	11: 96,846,762 (GRCm39)	C527Y	probably damaging	Het
Spata31e2	A	T	1: 26,724,241 (GRCm39)	M313K	possibly damaging	Het
Spata4	A	C	8: 55,055,664 (GRCm39)	K185T	probably benign	Het
Spin2c	A	G	X: 152,616,672 (GRCm39)	I162V	probably damaging	Het
Stac	G	A	9: 111,519,190 (GRCm39)		probably benign	Het
Tas1r3	A	T	4: 155,946,675 (GRCm39)	M310K	possibly damaging	Het
Tenm3	G	A	8: 48,795,372 (GRCm39)	P585L	probably damaging	Het
Tnfsf11	A	T	14: 78,537,421 (GRCm39)	S81T	possibly damaging	Het
Topaz1	C	T	9: 122,600,212 (GRCm39)	T984I	probably benign	Het
Ttll2	G	A	17: 7,619,522 (GRCm39)	T135I	probably benign	Het
Ubr4	A	G	4: 139,170,101 (GRCm39)	S1584G	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn2r80	G	A	10: 79,004,104 (GRCm39)	E106K	probably damaging	Het
Xpc	T	C	6: 91,475,090 (GRCm39)	H643R	probably damaging	Het
Zan	G	A	5: 137,456,099 (GRCm39)	Q1354*	probably null	Het
Zpld2	A	C	4: 133,929,516 (GRCm39)	M263R	unknown	Het

Other mutations in Or13p3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00983:Or13p3	APN	4	118,567,119 (GRCm39)	missense	probably damaging	1.00
IGL02699:Or13p3	APN	4	118,567,395 (GRCm39)	missense	probably benign	0.36
IGL02798:Or13p3	APN	4	118,566,696 (GRCm39)	missense	probably damaging	0.97
IGL03271:Or13p3	APN	4	118,566,982 (GRCm39)	missense	probably damaging	0.99
R0085:Or13p3	UTSW	4	118,567,078 (GRCm39)	missense	probably benign	0.18
R0355:Or13p3	UTSW	4	118,566,808 (GRCm39)	missense	probably benign	0.06
R1134:Or13p3	UTSW	4	118,567,476 (GRCm39)	missense	probably damaging	0.97
R1561:Or13p3	UTSW	4	118,566,751 (GRCm39)	missense	probably damaging	0.99
R1574:Or13p3	UTSW	4	118,566,751 (GRCm39)	missense	probably damaging	0.99
R2167:Or13p3	UTSW	4	118,567,252 (GRCm39)	missense	probably benign	0.18
R2182:Or13p3	UTSW	4	118,567,542 (GRCm39)	makesense	probably null
R3775:Or13p3	UTSW	4	118,567,351 (GRCm39)	missense	probably damaging	1.00
R6000:Or13p3	UTSW	4	118,567,441 (GRCm39)	missense	probably damaging	1.00
R6249:Or13p3	UTSW	4	118,566,910 (GRCm39)	missense	probably damaging	1.00
R6331:Or13p3	UTSW	4	118,567,144 (GRCm39)	missense	probably benign	0.34
R6527:Or13p3	UTSW	4	118,567,045 (GRCm39)	missense	possibly damaging	0.56
R7795:Or13p3	UTSW	4	118,566,855 (GRCm39)	missense	possibly damaging	0.94
R8752:Or13p3	UTSW	4	118,567,083 (GRCm39)	missense	probably damaging	1.00
R9281:Or13p3	UTSW	4	118,566,592 (GRCm39)	start gained	probably benign
R9366:Or13p3	UTSW	4	118,566,831 (GRCm39)	missense	probably damaging	0.98
R9389:Or13p3	UTSW	4	118,567,353 (GRCm39)	missense	probably benign	0.01
R9518:Or13p3	UTSW	4	118,567,120 (GRCm39)	missense	probably damaging	0.98
X0063:Or13p3	UTSW	4	118,566,952 (GRCm39)	missense	probably damaging	1.00
Z1088:Or13p3	UTSW	4	118,567,423 (GRCm39)	missense	probably benign	0.00
Z1177:Or13p3	UTSW	4	118,567,355 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGGTACAAGGTCATCATGAGCC -3'
(R):5'- AACCAGGCTTCATGTACATGACC -3'

Sequencing Primer
(F):5'- CATGAGCCCATGTCTATGTGG -3'
(R):5'- GGCTTCATGTACATGACCATGGC -3'

Posted On

2014-10-15