Mutagenetix > Incidental Mutation

Incidental Mutation 'R1561:Or13p3'

170590

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

039600-MU

Accession Numbers

Essential gene?

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

Stock #

R1561 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118566606-118567544 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118566751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 49 (I49N)

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: I49N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095523
Gene: ENSMUSG00000046790
AA Change: I49N

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: I49N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215117
AA Change: I49N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.9%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,184,431 (GRCm39)	N69D	probably benign	Het
Alms1	T	A	6: 85,606,034 (GRCm39)	Y2561*	probably null	Het
Ap1g2	T	C	14: 55,342,344 (GRCm39)	E171G	probably damaging	Het
Atg7	T	C	6: 114,678,133 (GRCm39)	V341A	possibly damaging	Het
Bace1	G	T	9: 45,750,492 (GRCm39)	R56L	probably benign	Het
Cd200l1	A	G	16: 45,262,875 (GRCm39)	V88A	possibly damaging	Het
Chfr	A	T	5: 110,306,674 (GRCm39)	D472V	probably benign	Het
Ckap2l	G	A	2: 129,112,645 (GRCm39)	T621I	probably benign	Het
Cmip	A	G	8: 118,180,589 (GRCm39)	T554A	probably benign	Het
Crocc	C	T	4: 140,757,579 (GRCm39)	E905K	probably damaging	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Dna2	C	T	10: 62,784,966 (GRCm39)	R28W	probably benign	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
F5	C	A	1: 164,014,472 (GRCm39)	S581*	probably null	Het
Fam227a	T	A	15: 79,520,963 (GRCm39)	Y291F	possibly damaging	Het
Gpr151	A	T	18: 42,712,221 (GRCm39)	S152R	probably benign	Het
Gpr158	A	T	2: 21,820,505 (GRCm39)		probably null	Het
Kcna5	T	C	6: 126,511,546 (GRCm39)	Y194C	probably damaging	Het
Khsrp	A	G	17: 57,332,639 (GRCm39)	S214P	probably benign	Het
Mrgprb1	C	G	7: 48,096,873 (GRCm39)		probably null	Het
Mrnip	C	T	11: 50,067,676 (GRCm39)	T30I	probably damaging	Het
Mtus2	A	C	5: 148,013,362 (GRCm39)	K52Q	probably benign	Het
Naca	G	T	10: 127,876,267 (GRCm39)		probably benign	Het
Obscn	T	G	11: 58,926,899 (GRCm39)	T5539P	probably damaging	Het
Or9m1	C	T	2: 87,733,505 (GRCm39)	V172I	probably benign	Het
Ovca2	A	G	11: 75,068,805 (GRCm39)	L198P	probably damaging	Het
Pdzrn4	T	C	15: 92,575,518 (GRCm39)	V308A	possibly damaging	Het
Pkd1l3	A	G	8: 110,341,445 (GRCm39)	I99M	unknown	Het
Polr3b	T	A	10: 84,470,776 (GRCm39)	M139K	probably damaging	Het
Prkag2	T	C	5: 25,076,593 (GRCm39)	Y191C	probably damaging	Het
Prss47	A	T	13: 65,194,062 (GRCm39)	C278S	probably damaging	Het
Ptprm	T	C	17: 67,247,536 (GRCm39)	T600A	probably damaging	Het
Ruvbl1	T	C	6: 88,456,136 (GRCm39)	V70A	probably damaging	Het
Sf3a1	T	C	11: 4,129,217 (GRCm39)	V726A	probably benign	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Slc26a3	A	G	12: 31,516,451 (GRCm39)	N603S	probably benign	Het
Slc2a1	A	G	4: 118,993,606 (GRCm39)	E481G	possibly damaging	Het
Slc35a5	A	C	16: 44,971,884 (GRCm39)	S127A	possibly damaging	Het
Spen	C	A	4: 141,199,694 (GRCm39)	G2978*	probably null	Het
Srrt	T	A	5: 137,298,281 (GRCm39)	E297V	probably benign	Het
Srsf4	T	A	4: 131,625,006 (GRCm39)	D134E	probably damaging	Het
Tdrd6	G	A	17: 43,936,515 (GRCm39)	S1511L	probably damaging	Het
Tmem65	T	A	15: 58,694,707 (GRCm39)	I91F	probably benign	Het
Top2b	A	G	14: 16,398,993 (GRCm38)	K538E	possibly damaging	Het
Trappc8	G	A	18: 20,974,680 (GRCm39)	R883*	probably null	Het
Ttc28	G	A	5: 111,373,543 (GRCm39)	S962N	probably damaging	Het
Vav3	T	C	3: 109,402,154 (GRCm39)		probably null	Het
Vmn1r42	C	T	6: 89,822,363 (GRCm39)	G69S	probably damaging	Het
Zan	A	T	5: 137,379,100 (GRCm39)	Y5333*	probably null	Het
Zfp994	A	C	17: 22,420,206 (GRCm39)	F248V	probably damaging	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
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
R2237:Or13p3	UTSW	4	118,567,192 (GRCm39)	missense	probably damaging	1.00
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'- ACCCCAACTTTGGACATGCCTTAG -3'
(R):5'- GGGCTCATGATGACCTTGTACCTG -3'

Sequencing Primer
(F):5'- TGGACATGCCTTAGTTAGCC -3'
(R):5'- CATGATGACCTTGTACCTGAGTGG -3'

Posted On

2014-04-13