Mutagenetix > Incidental Mutation

Incidental Mutation 'R7284:Olfr692'

565869

Institutional Source

Beutler Lab

Gene Symbol

Olfr692

Ensembl Gene

ENSMUSG00000073906

Gene Name

olfactory receptor 692

Synonyms

GA_x6K02T2PBJ9-7994144-7995106, MOR36-1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R7284 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105368230-105369355 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105368545 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 73 (M73K)

Ref Sequence

ENSEMBL: ENSMUSP00000151295 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098152] [ENSMUST00000179474] [ENSMUST00000217827]

AlphaFold

Q8VF03

Predicted Effect

probably damaging
Transcript: ENSMUST00000098152
AA Change: M64K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095755
Gene: ENSMUSG00000073906
AA Change: M64K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	45	325	1.3e-90	PFAM
Pfam:7TM_GPCR_Srsx	49	233	1.3e-7	PFAM
Pfam:7tm_1	55	307	3.9e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179474

SMART Domains

Protein: ENSMUSP00000137163
Gene: ENSMUSG00000044465

Domain	Start	End	E-Value	Type
Pfam:RAI16-like	96	426	4.2e-98	PFAM
low complexity region	496	515	N/A	INTRINSIC
low complexity region	541	558	N/A	INTRINSIC
low complexity region	711	724	N/A	INTRINSIC
low complexity region	732	744	N/A	INTRINSIC
low complexity region	905	920	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000217827
AA Change: M73K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.3812

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

99% (77/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,734,583	H942Q	probably benign	Het
2900092C05Rik	G	T	7: 12,512,678	E34*	probably null	Het
4933421I07Rik	C	T	7: 42,447,980	R30H	probably damaging	Het
AB124611	C	A	9: 21,539,104	Q158K	probably benign	Het
Abcc3	C	T	11: 94,357,047	A1207T	probably benign	Het
Abcc9	A	T	6: 142,682,917	L367Q	probably damaging	Het
Aftph	T	C	11: 20,726,812	K266E	probably benign	Het
Akap9	T	A	5: 3,956,246	D190E	probably damaging	Het
Angel1	G	T	12: 86,720,524	D359E	probably damaging	Het
Ano6	T	C	15: 95,948,303	I474T	probably damaging	Het
Atp2c1	A	T	9: 105,520,809		probably null	Het
Best1	T	C	19: 9,986,373		probably null	Het
Bhlha9	A	G	11: 76,672,666	S40G	probably benign	Het
Cabin1	G	A	10: 75,694,834	R178C		Het
Ccnb1ip1	A	G	14: 50,792,279	Y109H	probably damaging	Het
Col14a1	T	C	15: 55,518,319	S1763P	probably damaging	Het
Dars	T	C	1: 128,372,267	T327A	probably benign	Het
Dhx8	T	C	11: 101,754,822	Y889H	probably damaging	Het
Dlg4	T	A	11: 70,042,082	Y523*	probably null	Het
Dnah10	A	T	5: 124,832,598	D4484V	probably benign	Het
Dnah9	A	T	11: 65,990,476	M2591K	probably damaging	Het
Dock2	T	C	11: 34,230,672	E1715G	probably benign	Het
Dym	A	G	18: 75,119,171	Y336C	possibly damaging	Het
Ezh2	A	G	6: 47,544,519	M439T	probably benign	Het
Folr1	T	G	7: 101,859,470	N83H	possibly damaging	Het
Ganab	T	C	19: 8,912,540	L656P	probably damaging	Het
Gmnc	T	C	16: 26,960,792	H161R	probably benign	Het
Gria4	A	G	9: 4,472,017	Y491H	probably damaging	Het
Heatr3	T	A	8: 88,156,774	C412S	possibly damaging	Het
Hmgcr	A	C	13: 96,652,665	V716G	probably damaging	Het
Igsf9	A	G	1: 172,496,912	D799G	probably damaging	Het
Ikbkb	T	C	8: 22,668,960	T501A	probably benign	Het
Kbtbd3	C	T	9: 4,330,690	R355*	probably null	Het
Kcna7	T	A	7: 45,409,228	I313N	probably damaging	Het
Kirrel	A	C	3: 87,083,387	D709E	probably benign	Het
Klb	T	A	5: 65,383,478	S971R	probably benign	Het
Krtap4-13	A	T	11: 99,809,412	C140*	probably null	Het
Lacc1	A	T	14: 77,030,869	L334Q	probably damaging	Het
Map6d1	T	A	16: 20,241,025	R97*	probably null	Het
Mgat5b	T	C	11: 116,944,920	S129P	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Myh9	G	A	15: 77,787,596	R432C	probably damaging	Het
Ncf4	A	G	15: 78,260,702	T236A	probably benign	Het
Neb	T	C	2: 52,258,792	D2581G	probably damaging	Het
Nid1	T	A	13: 13,489,090	M778K	probably benign	Het
Npas2	A	G	1: 39,324,467	D209G	probably benign	Het
Nploc4	C	T	11: 120,416,370	V181I	possibly damaging	Het
Nrcam	A	T	12: 44,564,034	I506F	probably damaging	Het
Olfr197	A	G	16: 59,185,968	*172Q	probably null	Het
Olfr803	T	C	10: 129,691,351	N230S	probably benign	Het
Pask	T	A	1: 93,320,669	Q970L	probably benign	Het
Pfkfb4	T	C	9: 109,011,240	I308T	possibly damaging	Het
Pla2g4d	A	T	2: 120,284,136	L38Q	probably damaging	Het
Pld1	A	G	3: 28,131,733	T1036A	possibly damaging	Het
Pom121l2	A	G	13: 21,982,605	T349A	probably damaging	Het
Ppp1r13b	A	G	12: 111,834,966	I551T	possibly damaging	Het
Prps1l1	A	G	12: 34,985,318	N144S	possibly damaging	Het
Prss56	A	G	1: 87,185,401	N179S	probably null	Het
Prune2	T	C	19: 17,119,886	L918P	probably damaging	Het
Ptprz1	C	T	6: 23,000,098	T729I	probably damaging	Het
Rrp7a	T	C	15: 83,121,870	T60A	probably damaging	Het
Snx27	A	G	3: 94,524,191	Y299H	probably damaging	Het
Spaca3	G	T	11: 80,864,021	R96L	possibly damaging	Het
Stat1	A	G	1: 52,148,922	N495S	probably benign	Het
Tas2r130	T	C	6: 131,630,307	N175S	probably benign	Het
Tcaf2	A	G	6: 42,629,538	L494P	probably damaging	Het
Tdrd12	C	A	7: 35,480,136		probably null	Het
Thbs1	A	G	2: 118,119,356	N604S	probably damaging	Het
Togaram1	T	C	12: 65,008,680	F1482L	probably benign	Het
Trhr2	A	T	8: 122,360,375	S109T	probably damaging	Het
Trpc3	A	T	3: 36,624,413	M841K	probably damaging	Het
Tubgcp5	C	T	7: 55,823,567	R798C	probably benign	Het
Xirp2	T	A	2: 67,516,829	M3138K	probably benign	Het
Zdhhc4	G	A	5: 143,321,891	T125I	probably benign	Het
Zfp239	T	A	6: 117,871,755	C151*	probably null	Het
Zfp473	C	T	7: 44,733,203	E569K	not run	Het
Zzef1	T	A	11: 72,886,690	D1782E	probably damaging	Het

Other mutations in Olfr692

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00927:Olfr692	APN	7	105369247	missense	probably damaging	1.00
IGL01772:Olfr692	APN	7	105368434	missense	probably benign	0.03
IGL02508:Olfr692	APN	7	105368536	missense	possibly damaging	0.95
IGL03103:Olfr692	APN	7	105368578	missense	probably damaging	1.00
R1147:Olfr692	UTSW	7	105369277	missense	probably benign	0.14
R1147:Olfr692	UTSW	7	105369277	missense	probably benign	0.14
R5237:Olfr692	UTSW	7	105369306	nonsense	probably null
R5294:Olfr692	UTSW	7	105368413	missense	probably benign	0.41
R5955:Olfr692	UTSW	7	105368569	missense	probably damaging	1.00
R6321:Olfr692	UTSW	7	105368902	missense	probably damaging	1.00
R7171:Olfr692	UTSW	7	105368761	missense	probably benign	0.02
R8376:Olfr692	UTSW	7	105368640	missense	probably benign	0.33
R8516:Olfr692	UTSW	7	105368769	missense	probably benign	0.00
R9054:Olfr692	UTSW	7	105368473	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGGCAGAAAGTTCGCAGTC -3'
(R):5'- ATAGGGTAGTGTAGTGGACGCC -3'

Sequencing Primer
(F):5'- GGCAGAAAGTTCGCAGTCCAATTC -3'
(R):5'- AGCCCGATCACAGGCCATG -3'

Posted On

2019-06-26