Mutagenetix > Incidental Mutation

Incidental Mutation 'R1981:Olfr1350'

222303

Institutional Source

Beutler Lab

Gene Symbol

Olfr1350

Ensembl Gene

ENSMUSG00000056696

Gene Name

olfactory receptor 1350

Synonyms

GA_x6K02T2QGBW-3300391-3301317, MOR222-3

MMRRC Submission

039993-MU

Accession Numbers

Genbank: NM_146389.1

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R1981 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6564841-6571401 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6570558 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 189 (D189G)

Ref Sequence

ENSEMBL: ENSMUSP00000151318 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070985] [ENSMUST00000207221] [ENSMUST00000219278]

AlphaFold

Q8VF34

Predicted Effect

probably benign
Transcript: ENSMUST00000070985
AA Change: D189G

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

SMART Domains

Protein: ENSMUSP00000069927
Gene: ENSMUSG00000056696
AA Change: D189G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	305	1.6e-50	PFAM
Pfam:7tm_1	39	288	8.2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207221
AA Change: D189G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000219278
AA Change: D189G

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

Meta Mutation Damage Score

0.1949

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.6%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415L06Rik	A	T	X: 89,931,445	V382E	probably damaging	Het
Anks1	T	C	17: 27,985,121	V181A	probably damaging	Het
Aqp4	T	C	18: 15,393,551	D291G	probably damaging	Het
Atad1	G	T	19: 32,695,810	D224E	probably benign	Het
Atp1a3	T	G	7: 25,000,975	E33A	probably benign	Het
Baz2b	A	G	2: 59,923,680	F1100L	possibly damaging	Het
Car7	C	T	8: 104,548,377		probably benign	Het
Casp8	C	A	1: 58,828,962		probably null	Het
Cdh23	A	T	10: 60,378,751	L1495H	probably damaging	Het
Ceacam9	T	G	7: 16,725,307	L177R	probably benign	Het
Col16a1	C	G	4: 130,065,443	P346A	unknown	Het
Cyp2c29	A	G	19: 39,307,772		probably null	Het
Cyp3a13	T	C	5: 137,911,856	S139G	probably damaging	Het
Dapk2	A	G	9: 66,268,898	H327R	probably benign	Het
Ddx19b	T	C	8: 111,009,343	T357A	possibly damaging	Het
Dnah2	A	G	11: 69,474,325	Y1944H	probably damaging	Het
Dnaic2	T	A	11: 114,732,929	V6E	probably damaging	Het
Eipr1	T	C	12: 28,863,025	Y242H	probably damaging	Het
Fam149a	T	G	8: 45,381,741	D7A	probably damaging	Het
Fam217a	T	A	13: 34,916,754	D140V	probably benign	Het
Fat4	G	A	3: 38,991,664	C3944Y	probably damaging	Het
Fezf2	G	T	14: 12,344,405	P261T	probably benign	Het
Gcsam	A	T	16: 45,619,974	T127S	probably damaging	Het
Git2	C	T	5: 114,749,559		probably benign	Het
Gm1527	T	C	3: 28,915,835		probably null	Het
Gm7030	T	A	17: 36,128,722	D122V	probably damaging	Het
Gtf3c1	A	G	7: 125,644,272	L1720P	possibly damaging	Het
Hat1	A	G	2: 71,389,977	T28A	probably benign	Het
Igf2r	G	A	17: 12,733,903	Q219*	probably null	Het
Impdh1	T	A	6: 29,206,451	D129V	possibly damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906	74	probably benign	Het
Ltbp3	A	G	19: 5,758,079	Q1250R	probably benign	Het
Mansc4	T	A	6: 147,075,675	I148F	probably benign	Het
Mast2	T	C	4: 116,314,840	Y569C	probably damaging	Het
Mcoln3	A	T	3: 146,140,590	K552*	probably null	Het
Mctp2	T	C	7: 72,164,698	Q601R	probably benign	Het
Mei1	A	G	15: 82,103,312	N859S	probably benign	Het
Myo19	A	T	11: 84,892,170	Q170L	possibly damaging	Het
Myo1h	T	C	5: 114,353,837	F676S	probably damaging	Het
Myo9a	A	G	9: 59,894,146	T1876A	probably benign	Het
Nav3	G	T	10: 109,719,090		probably benign	Het
Ndor1	T	C	2: 25,255,224	Y43C	probably damaging	Het
Nlrp1a	A	G	11: 71,098,938	V1102A	probably damaging	Het
Nmnat3	T	C	9: 98,410,299	I199T	possibly damaging	Het
Nsun7	T	C	5: 66,261,214	S96P	probably damaging	Het
Ntng1	A	G	3: 109,935,010	V149A	possibly damaging	Het
Oas3	T	C	5: 120,761,835		probably benign	Het
Olfr1055	A	T	2: 86,347,142	I208N	possibly damaging	Het
Olfr1297	T	A	2: 111,621,241	I278F	probably benign	Het
Olfr1418	T	G	19: 11,855,007	Q315H	possibly damaging	Het
Olfr147	T	C	9: 38,403,735	L287P	probably damaging	Het
Olfr5	T	C	7: 6,480,932	M75V	probably benign	Het
Pax2	G	A	19: 44,818,465	D301N	probably damaging	Het
Pcsk4	T	A	10: 80,325,779	E176V	probably damaging	Het
Pkhd1	G	A	1: 20,117,060	P3675S	probably benign	Het
Plekho2	A	T	9: 65,558,692	L138Q	probably damaging	Het
Prkcsh	A	G	9: 22,012,868	D458G	probably damaging	Het
Prr11	T	A	11: 87,103,290	D100V	probably damaging	Het
Qars	A	G	9: 108,515,028	N136D	probably damaging	Het
Rbm15b	A	G	9: 106,881,623		probably benign	Het
Rel	C	T	11: 23,742,761	G424D	probably benign	Het
Rsrc1	A	G	3: 67,350,005	D250G	probably benign	Het
Samt3	A	C	X: 86,047,134	M211L	probably benign	Het
Scn2a	C	A	2: 65,690,170	N503K	probably damaging	Het
Sh2d6	G	A	6: 72,517,544		probably benign	Het
Smg8	T	C	11: 87,085,331	T475A	probably benign	Het
Ssxb10	A	G	X: 8,331,019	D77G	probably benign	Het
Tbx20	T	A	9: 24,770,913	K48N	possibly damaging	Het
Tead1	C	A	7: 112,891,745	D231E	probably benign	Het
Ticam1	C	T	17: 56,271,555	R180H	probably damaging	Het
Tjp1	A	T	7: 65,312,855	F1111L	probably damaging	Het
Tlr11	T	A	14: 50,361,988	I477K	possibly damaging	Het
Ttc13	A	G	8: 124,714,187		probably null	Het
Ttc17	T	C	2: 94,326,704	N411S	probably benign	Het
Usp15	T	A	10: 123,125,041		probably benign	Het
Usp18	A	G	6: 121,252,517	K32E	probably benign	Het
Vmn1r12	A	T	6: 57,159,661	M248L	probably benign	Het
Zbtb14	C	A	17: 69,388,502	F398L	probably damaging	Het
Zfp930	T	A	8: 69,228,172	L172H	probably damaging	Het
Zfp976	G	A	7: 42,613,622	H264Y	probably damaging	Het

Other mutations in Olfr1350

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Olfr1350	APN	7	6570668	missense	possibly damaging	0.88
IGL01387:Olfr1350	APN	7	6570855	missense	probably damaging	1.00
IGL01457:Olfr1350	APN	7	6570212	missense	probably benign	0.12
IGL01568:Olfr1350	APN	7	6570570	missense	possibly damaging	0.91
I2288:Olfr1350	UTSW	7	6570819	missense	probably damaging	1.00
I2289:Olfr1350	UTSW	7	6570819	missense	probably damaging	1.00
R0454:Olfr1350	UTSW	7	6570360	missense	probably damaging	1.00
R0558:Olfr1350	UTSW	7	6570653	missense	possibly damaging	0.77
R1103:Olfr1350	UTSW	7	6570112	missense	probably damaging	1.00
R1352:Olfr1350	UTSW	7	6570783	missense	probably benign	0.11
R1503:Olfr1350	UTSW	7	6570471	missense	probably damaging	1.00
R1630:Olfr1350	UTSW	7	6570674	missense	probably damaging	1.00
R2228:Olfr1350	UTSW	7	6570803	missense	probably benign
R2258:Olfr1350	UTSW	7	6570023	missense	probably damaging	0.98
R2259:Olfr1350	UTSW	7	6570023	missense	probably damaging	0.98
R2260:Olfr1350	UTSW	7	6570023	missense	probably damaging	0.98
R4075:Olfr1350	UTSW	7	6570143	missense	probably benign	0.00
R4750:Olfr1350	UTSW	7	6570851	missense	probably benign	0.34
R4917:Olfr1350	UTSW	7	6570644	missense	possibly damaging	0.88
R4918:Olfr1350	UTSW	7	6570644	missense	possibly damaging	0.88
R5571:Olfr1350	UTSW	7	6570825	missense	possibly damaging	0.95
R5915:Olfr1350	UTSW	7	6570173	missense	probably benign	0.31
R6969:Olfr1350	UTSW	7	6570321	missense	probably damaging	1.00
R7061:Olfr1350	UTSW	7	6570783	missense	probably damaging	1.00
R7286:Olfr1350	UTSW	7	6570716	missense	probably damaging	1.00
R7510:Olfr1350	UTSW	7	6569961	start gained	probably benign
R9475:Olfr1350	UTSW	7	6570819	missense	probably damaging	1.00
V1662:Olfr1350	UTSW	7	6570819	missense	probably damaging	1.00
Z1176:Olfr1350	UTSW	7	6570048	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACAGACCCCTGACATATGGGG -3'
(R):5'- TGTAGGCTGAACTTCCAGTG -3'

Sequencing Primer
(F):5'- GGTAACCATGAGTTCTCAGACCTG -3'
(R):5'- GGCTGAACTTCCAGTGCCATAAAAC -3'

Posted On

2014-08-25