Mutagenetix > Incidental Mutation

Incidental Mutation 'R0243:Olfr169'

37914

Institutional Source

Beutler Lab

Gene Symbol

Olfr169

Ensembl Gene

ENSMUSG00000068535

Gene Name

olfactory receptor 169

Synonyms

GA_x54KRFPKG5P-16014972-16014031, MOR273-3P

MMRRC Submission

038481-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R0243 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19564889-19571809 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 19566294 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 196 (E196D)

Ref Sequence

ENSEMBL: ENSMUSP00000150528 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090062] [ENSMUST00000215040] [ENSMUST00000215476] [ENSMUST00000216070]

AlphaFold

Q7TS53

Predicted Effect

probably damaging
Transcript: ENSMUST00000090062
AA Change: E196D

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000087516
Gene: ENSMUSG00000068535
AA Change: E196D

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	308	1.3e-45	PFAM
Pfam:7TM_GPCR_Srsx	35	303	2e-6	PFAM
Pfam:7tm_1	41	290	7.4e-29	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215040
AA Change: E196D

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215476
AA Change: E196D

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216070
AA Change: E196D

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Meta Mutation Damage Score

0.3821

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.0%

Validation Efficiency

98% (148/151)

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: 139 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	G	5: 63,898,463	Y181D	probably benign	Het
1110034G24Rik	T	C	2: 132,750,639	V202A	probably benign	Het
1700029H14Rik	A	G	8: 13,554,715	V196A	possibly damaging	Het
2410004B18Rik	A	G	3: 145,938,078	D7G	probably damaging	Het
2810474O19Rik	T	C	6: 149,326,241	Y262H	probably damaging	Het
Acap1	A	G	11: 69,885,426	V249A	probably damaging	Het
Acat2	A	T	17: 12,944,021	D313E	probably benign	Het
Actn4	T	C	7: 28,905,398	T325A	probably benign	Het
Adamdec1	C	T	14: 68,581,958		probably null	Het
Adat2	A	G	10: 13,553,293	T10A	probably benign	Het
Aff4	T	A	11: 53,397,858	S400R	possibly damaging	Het
Agbl2	C	T	2: 90,791,481	P104L	possibly damaging	Het
Alox12	G	T	11: 70,242,716	T594K	possibly damaging	Het
Als2	C	A	1: 59,215,387	K270N	probably benign	Het
Ankhd1	T	A	18: 36,634,734	C1235S	probably damaging	Het
Ankrd24	T	A	10: 81,634,944	I69N	probably damaging	Het
Aox4	G	A	1: 58,213,076	V37I	probably benign	Het
Arfgap3	A	G	15: 83,330,513		probably benign	Het
Arhgef4	T	A	1: 34,806,999		probably null	Het
Asic1	C	T	15: 99,698,617		probably benign	Het
Atp8b5	A	G	4: 43,366,057	N776S	probably benign	Het
Bbs7	A	G	3: 36,605,734	I184T	probably benign	Het
Bbs9	A	T	9: 22,514,001	H117L	probably damaging	Het
Bnip2	T	C	9: 69,995,505	W10R	probably damaging	Het
Brd4	G	T	17: 32,224,123	Q175K	probably benign	Het
Bysl	A	T	17: 47,606,896	V124E	possibly damaging	Het
Cadm3	A	G	1: 173,346,573		probably benign	Het
Cc2d2a	T	C	5: 43,696,638		probably benign	Het
Ccdc134	G	T	15: 82,140,946	E215D	probably damaging	Het
Celsr3	G	T	9: 108,843,724		probably benign	Het
Cntn5	T	A	9: 9,781,775	D428V	probably damaging	Het
Cog1	A	G	11: 113,656,995		probably benign	Het
Col11a2	G	T	17: 34,062,546		probably benign	Het
Cyp4f13	G	A	17: 32,924,969		probably benign	Het
D3Ertd254e	A	G	3: 36,165,154	H442R	possibly damaging	Het
Dffb	T	A	4: 153,965,378	K343*	probably null	Het
Dnah9	T	A	11: 65,911,852	I224F	possibly damaging	Het
Dolk	A	T	2: 30,286,019	C5S	probably benign	Het
Ebf1	A	T	11: 44,869,088		probably benign	Het
Elac1	A	G	18: 73,742,363	L199P	probably damaging	Het
Elmod1	A	C	9: 53,935,547		probably benign	Het
Ep400	A	C	5: 110,724,407		probably benign	Het
F10	A	T	8: 13,048,196	N133I	probably damaging	Het
Fasn	A	G	11: 120,815,315	Y1068H	probably benign	Het
Fbxo24	T	C	5: 137,624,557	E12G	probably damaging	Het
Fer	G	T	17: 64,078,946	L304F	probably benign	Het
Filip1	A	C	9: 79,819,003	L778R	probably damaging	Het
Fli1	A	T	9: 32,423,981	I385N	probably benign	Het
Fpgs	A	T	2: 32,692,494	L89*	probably null	Het
Gab2	T	G	7: 97,299,241	I346R	probably damaging	Het
Gm10764	G	A	10: 87,290,979	G83R	unknown	Het
Gpr83	G	T	9: 14,864,842	C153F	possibly damaging	Het
Gtf3c3	A	G	1: 54,403,536	L783P	possibly damaging	Het
Gys2	A	G	6: 142,472,668		probably benign	Het
Heatr9	C	T	11: 83,513,338	V378I	possibly damaging	Het
Helz	A	T	11: 107,637,914	Y920F	possibly damaging	Het
Inpp5f	A	T	7: 128,695,183	Q459L	probably damaging	Het
Ints12	T	C	3: 133,109,045	S338P	probably benign	Het
Kif13a	T	C	13: 46,791,351	T925A	probably benign	Het
Kif1a	C	T	1: 93,042,093	V1051I	probably damaging	Het
Kif7	T	A	7: 79,699,560	H1119L	possibly damaging	Het
Kmt2d	C	T	15: 98,850,137		probably benign	Het
Krt90	C	T	15: 101,562,675	G51S	possibly damaging	Het
Krtap31-2	A	T	11: 99,936,746	I135F	possibly damaging	Het
Lrp2	T	C	2: 69,428,630	E4572G	probably benign	Het
Mapk8ip1	T	C	2: 92,385,944	E493G	probably damaging	Het
Matk	T	G	10: 81,258,492	L28V	probably benign	Het
Mcc	T	A	18: 44,759,299	T83S	probably benign	Het
Mtch1	A	T	17: 29,340,106	M204K	possibly damaging	Het
Muc4	T	G	16: 32,765,746	C2622G	possibly damaging	Het
Myo5a	G	A	9: 75,186,123		probably null	Het
Myoz3	T	C	18: 60,578,951	Y185C	probably damaging	Het
Nnmt	A	G	9: 48,592,138	V196A	probably benign	Het
Nr2f2	G	C	7: 70,360,175	P52R	probably damaging	Het
Nup214	T	A	2: 31,998,057		probably benign	Het
Olfr1261	T	A	2: 89,993,806	F138I	probably benign	Het
Olfr1383	T	C	11: 49,523,912	L63P	probably damaging	Het
Pank3	T	C	11: 35,781,716		probably benign	Het
Parm1	A	T	5: 91,594,294	N174Y	possibly damaging	Het
Pcgf2	A	T	11: 97,692,418		probably null	Het
Pclo	A	T	5: 14,775,420	K4661M	unknown	Het
Pcsk7	A	C	9: 45,916,059	S375R	probably damaging	Het
Pdzrn4	G	T	15: 92,770,319	S784I	possibly damaging	Het
Pex6	T	A	17: 46,723,737		probably null	Het
Pi4ka	C	T	16: 17,297,635	V1384M	probably benign	Het
Polr3f	T	A	2: 144,536,275		probably benign	Het
Ppp2r3a	A	T	9: 101,212,284	V280E	probably damaging	Het
Prdm14	C	T	1: 13,122,448	G356R	probably damaging	Het
Prepl	A	G	17: 85,065,038		probably null	Het
Primpol	T	C	8: 46,599,814	D154G	probably damaging	Het
Ptchd4	A	C	17: 42,503,416	H736P	probably damaging	Het
Rab11fip1	A	G	8: 27,152,225	S849P	probably damaging	Het
Rap1gap	T	A	4: 137,719,351	D405E	probably damaging	Het
Rbm26	T	C	14: 105,131,938	T686A	probably benign	Het
Rint1	A	G	5: 23,816,932		probably benign	Het
Rnasek	G	T	11: 70,238,440	Y62*	probably null	Het
Rnf17	T	G	14: 56,482,084	N930K	possibly damaging	Het
Sap130	A	G	18: 31,680,681		probably benign	Het
Sectm1b	T	A	11: 121,055,785	I95F	probably damaging	Het
Sema4f	A	T	6: 82,939,466	I53N	possibly damaging	Het
Siglec1	T	C	2: 131,085,476	T137A	probably damaging	Het
Six5	A	C	7: 19,097,022		probably null	Het
Slc22a30	A	T	19: 8,345,357	I345N	probably benign	Het
Slc25a27	A	T	17: 43,643,627	M316K	probably benign	Het
Slc2a8	A	T	2: 32,980,104		probably benign	Het
Snx1	G	A	9: 66,101,326		probably benign	Het
Spag17	A	G	3: 100,085,368	T1727A	probably benign	Het
Spata20	T	C	11: 94,481,646	D633G	probably benign	Het
Spock1	C	T	13: 57,436,109		probably null	Het
Sra1	A	T	18: 36,675,706	Y291*	probably null	Het
Sspo	C	A	6: 48,493,186	P4520T	probably damaging	Het
Stat4	A	G	1: 52,011,857	N25S	probably benign	Het
Tbx18	A	T	9: 87,715,516		probably benign	Het
Tctex1d2	A	G	16: 32,426,887	D118G	probably damaging	Het
Tep1	T	A	14: 50,846,987	I187F	probably damaging	Het
Tfap2b	A	T	1: 19,234,123	I368F	probably damaging	Het
Tmtc1	A	T	6: 148,246,837	L711Q	probably damaging	Het
Tmx3	T	A	18: 90,538,489		probably benign	Het
Tnc	G	T	4: 63,970,420	T1803K	probably damaging	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Tpgs1	C	T	10: 79,675,866	P281S	probably benign	Het
Trim45	A	G	3: 100,929,844	R499G	probably benign	Het
Tulp3	A	T	6: 128,325,958	Y299*	probably null	Het
Ube4a	A	T	9: 44,946,178		probably benign	Het
Ubr3	T	G	2: 69,951,405	S642R	probably damaging	Het
Vcpip1	A	T	1: 9,747,206	Y317*	probably null	Het
Vmn1r115	G	A	7: 20,844,402	T195I	probably benign	Het
Vmn1r226	G	A	17: 20,687,577	V24I	probably benign	Het
Wdr41	C	T	13: 95,017,406	A321V	probably damaging	Het
Wfdc5	T	C	2: 164,178,835	N44D	probably benign	Het
Wnt7b	C	A	15: 85,558,902		probably null	Het
Zfp108	T	C	7: 24,261,783	S600P	possibly damaging	Het
Zfp385b	A	G	2: 77,415,728		probably null	Het
Zfp395	T	C	14: 65,386,480	S133P	probably benign	Het
Zfp407	T	A	18: 84,558,711	M1426L	probably damaging	Het
Zfp641	T	G	15: 98,289,127	N191T	possibly damaging	Het
Zfp687	T	C	3: 95,011,553	S303G	probably damaging	Het
Zfp759	T	A	13: 67,138,813	F143I	possibly damaging	Het
Zgrf1	G	C	3: 127,615,446	E1690Q	probably damaging	Het

Other mutations in Olfr169

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01080:Olfr169	APN	16	19566208	missense	probably damaging	1.00
IGL01862:Olfr169	APN	16	19566676	missense	probably damaging	1.00
IGL02064:Olfr169	APN	16	19566548	missense	probably damaging	1.00
IGL03061:Olfr169	APN	16	19566713	missense	possibly damaging	0.87
IGL03136:Olfr169	APN	16	19566353	missense	probably damaging	1.00
R0066:Olfr169	UTSW	16	19566049	missense	probably damaging	1.00
R0629:Olfr169	UTSW	16	19565980	missense	possibly damaging	0.88
R1644:Olfr169	UTSW	16	19566406	missense	probably benign	0.11
R1943:Olfr169	UTSW	16	19566437	missense	probably benign	0.19
R3016:Olfr169	UTSW	16	19566391	missense	probably damaging	1.00
R4290:Olfr169	UTSW	16	19566244	missense	possibly damaging	0.88
R4689:Olfr169	UTSW	16	19566513	nonsense	probably null
R4791:Olfr169	UTSW	16	19566663	missense	possibly damaging	0.50
R5497:Olfr169	UTSW	16	19566330	missense	probably benign	0.10
R5843:Olfr169	UTSW	16	19566583	missense	probably damaging	1.00
R6106:Olfr169	UTSW	16	19566259	missense	probably damaging	0.99
R6249:Olfr169	UTSW	16	19565975	missense	probably damaging	0.99
R7895:Olfr169	UTSW	16	19566722	nonsense	probably null
R9284:Olfr169	UTSW	16	19566607	missense	probably damaging	1.00
R9335:Olfr169	UTSW	16	19566763	missense	probably benign	0.32
R9364:Olfr169	UTSW	16	19565972	missense	possibly damaging	0.68
R9404:Olfr169	UTSW	16	19565981	missense	probably benign	0.01
R9475:Olfr169	UTSW	16	19566520	missense	probably benign	0.09
R9554:Olfr169	UTSW	16	19565972	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- AAATTTATCCTGCCCTGGAGTGTGG -3'
(R):5'- TGACTTCCTCTCAGGCAGCAGAAC -3'

Sequencing Primer
(F):5'- CCCTGGAGTGTGGTATGAGC -3'
(R):5'- CAGGCAGCAGAACTATTTCCTTTG -3'

Posted On

2013-05-23