Mutagenetix > Incidental Mutation

Incidental Mutation 'R9652:Olfr57'

735392

Institutional Source

Beutler Lab

Gene Symbol

Olfr57

Ensembl Gene

ENSMUSG00000060205

Gene Name

olfactory receptor 57

Synonyms

GA_x6K02T2QGN0-2777431-2776472, IF12, MOR139-3

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R9652 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79028741-79036274 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79035396 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 200 (I200T)

Ref Sequence

ENSEMBL: ENSMUSP00000144814 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082244] [ENSMUST00000203906]

AlphaFold

Q8VGU7

Predicted Effect

probably benign
Transcript: ENSMUST00000082244
AA Change: I200T

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000080872
Gene: ENSMUSG00000060205
AA Change: I200T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	2.2e-49	PFAM
Pfam:7tm_1	42	291	6e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203906
AA Change: I200T

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000144814
Gene: ENSMUSG00000060205
AA Change: I200T

Domain	Start	End	E-Value	Type
low complexity region	9	19	N/A	INTRINSIC
Pfam:7tm_4	32	308	2e-49	PFAM
Pfam:7tm_1	42	291	1.9e-23	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.6%
20x: 99.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l1	G	A	18: 61,743,361	T395M	probably damaging	Het
Akap8l	T	C	17: 32,338,809	N35D	probably damaging	Het
Atr	T	A	9: 95,874,834	L922Q	probably damaging	Het
B3gnt9	G	T	8: 105,254,497	F86L	probably damaging	Het
Bmp1	T	C	14: 70,477,920	D925G	probably damaging	Het
C77080	T	C	4: 129,224,169	E279G	possibly damaging	Het
Camkmt	A	T	17: 85,452,285	R284S	probably benign	Het
Cavin3	G	T	7: 105,482,097	H21Q	probably damaging	Het
Ccp110	A	G	7: 118,735,330	H180R		Het
Cdh23	A	T	10: 60,331,356	V1837E	probably damaging	Het
Ces3b	G	T	8: 105,085,625	A169S	probably damaging	Het
Chpt1	T	C	10: 88,489,637	N122S	probably benign	Het
Cramp1l	C	A	17: 24,982,809	K566N	probably damaging	Het
Ctbp2	C	G	7: 133,014,204	R334P	probably damaging	Het
Cwh43	T	C	5: 73,414,997	S193P	probably benign	Het
Dcstamp	A	T	15: 39,760,396	D469V	probably benign	Het
Dst	T	A	1: 34,180,377	I1966N	probably benign	Het
Eif3i	G	T	4: 129,595,301	F121L	probably benign	Het
Erbb2	T	C	11: 98,435,986	S1074P	probably damaging	Het
Fam186b	G	A	15: 99,279,735	A570V	probably damaging	Het
Fbn2	A	G	18: 58,013,650		probably null	Het
Foxo3	C	T	10: 42,197,025	V499M	probably damaging	Het
Gm2a	T	C	11: 55,108,938	V95A	probably benign	Het
Gp5	A	C	16: 30,309,575	F94V	probably damaging	Het
Gramd4	G	A	15: 86,131,959	E504K	probably damaging	Het
Gusb	A	G	5: 129,997,811	S450P	probably damaging	Het
Htr5a	A	G	5: 27,842,840	N131S	possibly damaging	Het
Itga2	G	A	13: 114,884,455	P120L	probably benign	Het
Itpkb	G	T	1: 180,332,491	E61*	probably null	Het
Katnbl1	T	A	2: 112,409,152	V232D	probably damaging	Het
Kifap3	T	C	1: 163,862,088	L547P	probably damaging	Het
Krt6a	C	T	15: 101,690,685	V482M	probably benign	Het
Lrfn5	T	A	12: 61,843,632	V569D	probably damaging	Het
Luzp2	A	G	7: 55,052,832	T48A	probably damaging	Het
Mical2	G	T	7: 112,346,789	R986L	probably damaging	Het
Mroh8	G	A	2: 157,253,050	Q339*	probably null	Het
Msln	A	T	17: 25,749,068	V541E	probably damaging	Het
Muc16	T	A	9: 18,586,882	M6590L	probably benign	Het
Nisch	A	T	14: 31,171,671	V1315E	probably damaging	Het
Nubp2	G	A	17: 24,884,408	T165I	probably damaging	Het
Olfr1089	A	T	2: 86,733,292	F107I	probably damaging	Het
Olfr13	A	G	6: 43,174,057	M24V	probably benign	Het
Olfr682-ps1	A	T	7: 105,126,778	N164K	probably benign	Het
Olfr820	T	C	10: 130,017,940	I193T	possibly damaging	Het
Oog3	T	G	4: 144,157,919	R482S	probably benign	Het
P3h4	A	T	11: 100,413,673	C247*	probably null	Het
Palm2	G	A	4: 57,710,125	A357T	possibly damaging	Het
Plch2	T	A	4: 154,998,485	M569L	probably benign	Het
Plcl1	A	G	1: 55,696,291	T264A	probably benign	Het
Rad51ap1	G	T	6: 126,927,563	N178K	probably benign	Het
Rasa4	T	C	5: 136,101,640	L340P	probably damaging	Het
Rassf10	A	G	7: 112,955,577	T462A	probably benign	Het
Rlf	G	C	4: 121,150,668	L482V	probably damaging	Het
Robo1	T	G	16: 73,024,442	S1357A	possibly damaging	Het
Rp1l1	T	C	14: 64,032,265	S1767P	probably damaging	Het
Rpl3l	T	A	17: 24,728,354	L14Q	probably damaging	Het
Ryr3	T	A	2: 112,804,702	T2024S	possibly damaging	Het
Sbf2	T	C	7: 110,441,495	Q375R	possibly damaging	Het
Sema6a	T	C	18: 47,249,185	Q765R	probably damaging	Het
Senp6	T	A	9: 80,113,946	Y303N	probably damaging	Het
Sertad4	C	T	1: 192,846,528	D327N	probably damaging	Het
Slc22a15	T	A	3: 101,883,532	Y219F	possibly damaging	Het
Slco1b2	T	G	6: 141,648,632		probably null	Het
Snrnp200	G	T	2: 127,226,039	V819L	probably damaging	Het
Ssb	C	A	2: 69,870,440	A288E	probably damaging	Het
Syne2	A	G	12: 76,054,846	H638R	probably benign	Het
Tm7sf3	A	G	6: 146,626,200	S43P	probably benign	Het
Tmem200c	A	G	17: 68,842,186	H588R	probably benign	Het
Tnpo3	G	A	6: 29,560,174	R657*	probably null	Het
Traf6	T	C	2: 101,688,582	C139R	probably damaging	Het
Txnrd1	C	A	10: 82,884,556	N424K	possibly damaging	Het
Ubqln3	T	C	7: 104,142,755	I43V	probably damaging	Het
Usp32	A	G	11: 85,030,491	V699A	probably damaging	Het
Vmn2r103	T	C	17: 19,793,765	V273A	probably benign	Het
Vmn2r8	A	G	5: 108,803,241	S113P	probably benign	Het
Wdr7	T	A	18: 63,727,755	I161N	probably damaging	Het
Zfp474	A	T	18: 52,638,943	I223F	probably damaging	Het
Zfp583	A	G	7: 6,317,329	L228P	probably damaging	Het
Zfyve27	A	G	19: 42,177,417	T76A	possibly damaging	Het

Other mutations in Olfr57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:Olfr57	APN	10	79035611	missense	probably benign	0.05
IGL02230:Olfr57	APN	10	79035042	missense	probably damaging	0.99
IGL02283:Olfr57	APN	10	79035545	missense	probably damaging	1.00
IGL02878:Olfr57	APN	10	79035558	missense	probably benign	0.23
IGL02975:Olfr57	APN	10	79035033	missense	possibly damaging	0.83
IGL03259:Olfr57	APN	10	79035400	nonsense	probably null
R1366:Olfr57	UTSW	10	79035042	missense	probably damaging	1.00
R1438:Olfr57	UTSW	10	79035288	missense	possibly damaging	0.88
R1528:Olfr57	UTSW	10	79035564	missense	probably damaging	0.96
R1601:Olfr57	UTSW	10	79035504	missense	possibly damaging	0.56
R2032:Olfr57	UTSW	10	79035329	missense	possibly damaging	0.86
R2112:Olfr57	UTSW	10	79035414	missense	probably damaging	1.00
R2382:Olfr57	UTSW	10	79035134	missense	possibly damaging	0.52
R2967:Olfr57	UTSW	10	79035053	missense	probably damaging	1.00
R3773:Olfr57	UTSW	10	79035180	missense	possibly damaging	0.95
R3940:Olfr57	UTSW	10	79035204	missense	probably damaging	1.00
R4405:Olfr57	UTSW	10	79035410	missense	probably benign
R5944:Olfr57	UTSW	10	79035389	missense	probably benign	0.00
R6563:Olfr57	UTSW	10	79035217	missense	possibly damaging	0.67
R6614:Olfr57	UTSW	10	79035091	nonsense	probably null
R7181:Olfr57	UTSW	10	79035453	missense	probably damaging	0.98
R7639:Olfr57	UTSW	10	79035372	missense	probably damaging	0.99
R9427:Olfr57	UTSW	10	79035561	missense	probably damaging	0.99
R9508:Olfr57	UTSW	10	79035099	missense	probably damaging	1.00
R9681:Olfr57	UTSW	10	79035743	missense	probably benign
R9767:Olfr57	UTSW	10	79034931	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- TCATCATGAGCACAAGACGCTG -3'
(R):5'- GTTTTGGGTCACAGCAGAGC -3'

Sequencing Primer
(F):5'- CACAAGACGCTGTGGATTGATGATTC -3'
(R):5'- AGAGCTGAGGTACACTCCCAG -3'

Posted On

2022-11-14