Mutagenetix > Incidental Mutation

Incidental Mutation 'R9060:Or13a28'

688928

Institutional Source

Beutler Lab

Gene Symbol

Or13a28

Ensembl Gene

ENSMUSG00000096069

Gene Name

olfactory receptor family 13 subfamily A member 28

Synonyms

Olfr61, IH7, GA_x6K02T2PBJ9-42783826-42784758, MOR253-1

MMRRC Submission

068886-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R9060 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140217616-140218551 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 140217695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 27 (L27R)

Ref Sequence

ENSEMBL: ENSMUSP00000147924 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084455] [ENSMUST00000210241] [ENSMUST00000210373] [ENSMUST00000211685]

AlphaFold

Q8VGM2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084455
AA Change: L27R

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000081493
Gene: ENSMUSG00000096069
AA Change: L27R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	3.3e-49	PFAM
Pfam:7TM_GPCR_Srsx	36	175	1.3e-8	PFAM
Pfam:7tm_1	42	291	3.6e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210241
AA Change: L27R

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000210373

Predicted Effect

Coding Region Coverage

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

Validation Efficiency

98% (54/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat3	A	C	17: 13,145,293 (GRCm39)	V295G		Het
Agfg1	T	C	1: 82,872,254 (GRCm39)	V529A	possibly damaging	Het
Ap1g2	G	A	14: 55,337,887 (GRCm39)	P667L	probably benign	Het
Arhgap29	T	A	3: 121,783,973 (GRCm39)	S176T	probably damaging	Het
Casq2	A	G	3: 102,052,619 (GRCm39)	D377G	unknown	Het
Ccdc14	T	C	16: 34,517,486 (GRCm39)	L104P	probably benign	Het
Cep104	T	C	4: 154,074,281 (GRCm39)	I511T	probably damaging	Het
Cgn	A	G	3: 94,687,165 (GRCm39)	Y46H	probably damaging	Het
Cilp	T	C	9: 65,186,302 (GRCm39)	V799A	probably benign	Het
Col6a1	A	G	10: 76,557,711 (GRCm39)	V175A	probably benign	Het
Dclk1	C	A	3: 55,163,575 (GRCm39)	D222E	probably benign	Het
Dnah10	G	T	5: 124,905,141 (GRCm39)	C4058F	probably damaging	Het
Dnai4	A	T	4: 102,947,750 (GRCm39)	D175E	probably benign	Het
Elmod3	A	T	6: 72,543,790 (GRCm39)	Y334N	probably damaging	Het
Enah	C	A	1: 181,749,817 (GRCm39)	A341S	probably damaging	Het
Eomes	T	C	9: 118,311,364 (GRCm39)	*396Q	probably null	Het
Epb41l1	T	A	2: 156,345,679 (GRCm39)	Y227*	probably null	Het
Epha5	A	T	5: 84,218,977 (GRCm39)	D765E	probably benign	Het
Fat3	T	C	9: 15,910,782 (GRCm39)	N1740S	possibly damaging	Het
Fhip2a	C	T	19: 57,361,450 (GRCm39)	H125Y	probably damaging	Het
Galnt9	G	A	5: 110,737,710 (GRCm39)	R222H	possibly damaging	Het
Gm19410	A	G	8: 36,269,480 (GRCm39)	D1105G	probably damaging	Het
Hoxa13	T	A	6: 52,236,897 (GRCm39)	Y121F	probably damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Jag1	T	G	2: 136,931,204 (GRCm39)	T643P	probably damaging	Het
Limd1	T	A	9: 123,309,514 (GRCm39)	S404R	probably benign	Het
Micall2	A	T	5: 139,705,035 (GRCm39)	S100T	probably damaging	Het
Miga2	T	A	2: 30,271,735 (GRCm39)	L419Q	probably damaging	Het
Ms4a13	A	C	19: 11,168,950 (GRCm39)	I25S		Het
Nnmt	T	C	9: 48,503,367 (GRCm39)	T220A	probably benign	Het
Nrg3	G	A	14: 38,734,052 (GRCm39)	T278I	probably damaging	Het
Nup98	A	G	7: 101,783,895 (GRCm39)	W1146R	probably damaging	Het
Or5m10	T	C	2: 85,717,920 (GRCm39)	Y259H	probably benign	Het
Pacsin3	T	C	2: 91,091,557 (GRCm39)	F85L	probably benign	Het
Padi4	T	A	4: 140,477,953 (GRCm39)	D465V	probably damaging	Het
Pakap	A	G	4: 57,855,412 (GRCm39)	E247G	probably damaging	Het
Pclo	A	T	5: 14,726,599 (GRCm39)	Y1819F	unknown	Het
Pitpnm1	C	A	19: 4,156,869 (GRCm39)	T464N	probably damaging	Het
Rnf214	T	C	9: 45,809,772 (GRCm39)		probably benign	Het
Rrs1	G	A	1: 9,616,677 (GRCm39)	G310D	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Slc35e3	A	G	10: 117,581,688 (GRCm39)		probably null	Het
Slc47a2	T	C	11: 61,227,699 (GRCm39)	I142V	probably benign	Het
Slc8a3	G	A	12: 81,260,852 (GRCm39)	R626C	probably benign	Het
Spart	T	C	3: 55,032,275 (GRCm39)	S370P	probably benign	Het
Spata31e1	G	A	13: 49,940,087 (GRCm39)	S541F	probably damaging	Het
Spmap2	G	T	10: 79,420,571 (GRCm39)	L189I	probably damaging	Het
Tle3	T	A	9: 61,282,821 (GRCm39)	M67K	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Ubr3	T	A	2: 69,839,489 (GRCm39)	Y1534*	probably null	Het
Usp13	T	C	3: 32,965,812 (GRCm39)		probably null	Het
Vmn2r97	T	C	17: 19,134,585 (GRCm39)	M1T	probably null	Het
Zc3h7a	G	A	16: 10,969,047 (GRCm39)	T438I	probably damaging	Het
Zfhx2	A	G	14: 55,311,803 (GRCm39)	V297A	probably benign	Het

Other mutations in Or13a28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00958:Or13a28	APN	7	140,218,169 (GRCm39)	missense	probably damaging	1.00
IGL01837:Or13a28	APN	7	140,218,124 (GRCm39)	missense	probably damaging	1.00
IGL02349:Or13a28	APN	7	140,218,384 (GRCm39)	missense	probably benign	0.00
IGL02713:Or13a28	APN	7	140,217,829 (GRCm39)	missense	probably damaging	0.98
IGL02982:Or13a28	APN	7	140,217,865 (GRCm39)	missense	probably benign	0.06
IGL03205:Or13a28	APN	7	140,218,073 (GRCm39)	missense	possibly damaging	0.90
R1477:Or13a28	UTSW	7	140,218,355 (GRCm39)	missense	possibly damaging	0.94
R1564:Or13a28	UTSW	7	140,217,967 (GRCm39)	missense	probably benign	0.21
R1900:Or13a28	UTSW	7	140,218,505 (GRCm39)	missense	probably damaging	0.99
R2149:Or13a28	UTSW	7	140,217,965 (GRCm39)	missense	probably damaging	0.99
R2504:Or13a28	UTSW	7	140,218,397 (GRCm39)	missense	probably benign	0.01
R2887:Or13a28	UTSW	7	140,218,138 (GRCm39)	missense	probably damaging	1.00
R3787:Or13a28	UTSW	7	140,217,748 (GRCm39)	missense	probably benign	0.01
R4628:Or13a28	UTSW	7	140,218,297 (GRCm39)	missense	probably benign	0.04
R4775:Or13a28	UTSW	7	140,217,829 (GRCm39)	missense	probably damaging	0.98
R5805:Or13a28	UTSW	7	140,218,384 (GRCm39)	missense	probably benign	0.00
R6019:Or13a28	UTSW	7	140,217,925 (GRCm39)	missense	probably benign	0.03
R6244:Or13a28	UTSW	7	140,218,346 (GRCm39)	missense	probably damaging	1.00
R7303:Or13a28	UTSW	7	140,218,267 (GRCm39)	missense	probably damaging	1.00
R7505:Or13a28	UTSW	7	140,217,965 (GRCm39)	missense	probably damaging	1.00
R7783:Or13a28	UTSW	7	140,217,637 (GRCm39)	missense	possibly damaging	0.86
R7936:Or13a28	UTSW	7	140,217,652 (GRCm39)	missense	probably damaging	1.00
R9114:Or13a28	UTSW	7	140,218,282 (GRCm39)	missense	probably benign	0.02
Z1088:Or13a28	UTSW	7	140,218,133 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTCCCTTTCTGACAGCAGGG -3'
(R):5'- GATGGTGTTTTCTTCAGACACTAG -3'

Sequencing Primer
(F):5'- CCCTTTCTGACAGCAGGGAAAATTG -3'
(R):5'- TTTCTTCAGACACTAGGCCAATCAGG -3'

Posted On

2021-11-19