Mutagenetix > Incidental Mutation

Incidental Mutation 'R8855:Olfr596'

675246

Institutional Source

Beutler Lab

Gene Symbol

Olfr596

Ensembl Gene

ENSMUSG00000073953

Gene Name

olfactory receptor 596

Synonyms

Olfr596-ps1, Gm15117, ENSMUSG00000073953, GA_x6K02T2PBJ9-6019769-6019943

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R8855 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103305648-103312782 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103309961 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 80 (I80N)

Ref Sequence

ENSEMBL: ENSMUSP00000149187 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000104880] [ENSMUST00000214577]

AlphaFold

F8VQ26

Predicted Effect

probably damaging
Transcript: ENSMUST00000104880
AA Change: I80N

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

SMART Domains

Protein: ENSMUSP00000100475
Gene: ENSMUSG00000073953
AA Change: I80N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	1.5e-121	PFAM
Pfam:7TM_GPCR_Srsx	37	210	5.1e-11	PFAM
Pfam:7tm_1	43	293	1.6e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214577
AA Change: I80N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	C	T	3: 60,007,090	T38I	probably benign	Het
Ace	T	A	11: 105,970,598	L191*	probably null	Het
Ahctf1	G	A	1: 179,786,776	H451Y	probably damaging	Het
Amotl1	C	A	9: 14,555,573		probably null	Het
Angptl6	T	A	9: 20,875,644	Y261F	probably damaging	Het
Arhgap1	G	T	2: 91,669,399	S293I	probably benign	Het
Atg9a	A	C	1: 75,185,223	F560V	probably damaging	Het
B4galnt4	G	A	7: 141,068,575	G668D	possibly damaging	Het
Btaf1	T	A	19: 36,958,501	N230K	probably benign	Het
Ccne1	A	C	7: 38,100,621	H179Q	probably benign	Het
Cdk5rap2	A	T	4: 70,300,650	D623E	probably damaging	Het
Cenpf	C	A	1: 189,653,233	K2283N	probably benign	Het
Clec16a	A	T	16: 10,644,867	D683V	probably damaging	Het
Clvs2	T	C	10: 33,528,404	D272G	probably benign	Het
Cnksr1	A	G	4: 134,232,183	V380A	probably damaging	Het
Col20a1	C	A	2: 181,013,891	P42T		Het
Ddx47	A	G	6: 135,023,393	K451E	probably benign	Het
Dennd4a	G	A	9: 64,912,390	G1761D	probably benign	Het
Dnah11	T	A	12: 118,192,372	H181L	probably benign	Het
Dync1h1	T	C	12: 110,635,899	C2074R	probably damaging	Het
Ell2	A	T	13: 75,769,674	Q574H	probably damaging	Het
Enpp7	A	G	11: 118,988,365	N50S	possibly damaging	Het
Fbp2	T	C	13: 62,841,895	K199R	probably benign	Het
Fetub	A	T	16: 22,939,571	E368V	possibly damaging	Het
Flt1	A	T	5: 147,570,872	D1209E	probably benign	Het
Flt1	A	T	5: 147,681,650	N260K	probably damaging	Het
Fras1	A	G	5: 96,769,606	H3495R		Het
Fsip2	A	G	2: 82,980,177	Q2280R	probably benign	Het
Gja10	A	T	4: 32,601,573	C270*	probably null	Het
Gpld1	A	G	13: 24,986,907	T794A	probably benign	Het
Gsk3b	A	G	16: 38,184,538	Y157C	probably damaging	Het
Gsta2	T	C	9: 78,337,598	K78R	probably damaging	Het
Gtf3a	A	G	5: 146,948,911	D44G	probably benign	Het
Hap1	C	A	11: 100,356,038	G14W	probably damaging	Het
Hcn4	T	A	9: 58,858,104	I623N	unknown	Het
Kank1	T	C	19: 25,411,338	S792P	possibly damaging	Het
Klra5	A	T	6: 129,903,570	W212R	probably damaging	Het
Kmt2d	A	T	15: 98,856,356	L1622Q	unknown	Het
Lipi	T	A	16: 75,558,593	D343V	probably damaging	Het
Lrp6	A	T	6: 134,468,822	N1009K	probably benign	Het
Lrrc39	T	A	3: 116,570,141	I121N	probably damaging	Het
Mamstr	A	T	7: 45,644,979	D419V	probably benign	Het
Map2k7	C	T	8: 4,243,594	T119I	probably damaging	Het
Mov10l1	A	T	15: 89,011,966	D671V	probably benign	Het
Mrps24	A	T	11: 5,704,642	L104Q	probably damaging	Het
Myh1	T	A	11: 67,211,421	L846H	probably damaging	Het
Ndufaf5	T	A	2: 140,183,920	I133N	possibly damaging	Het
Ndufs5	A	G	4: 123,715,862		probably null	Het
Numa1	G	C	7: 101,990,628	D62H	possibly damaging	Het
Olfr1512	A	T	14: 52,372,739	Y105N	probably damaging	Het
Olfr551	G	T	7: 102,588,738	Q2K	probably benign	Het
Olfr876	C	G	9: 37,804,413	F167L	probably damaging	Het
Pag1	T	C	3: 9,699,469	K208R	probably benign	Het
Pkd1	T	C	17: 24,573,077	V1246A	probably damaging	Het
Plekhg2	T	C	7: 28,370,101	T144A	probably benign	Het
Plekhm2	A	T	4: 141,634,347	S262T	probably benign	Het
Pramef17	A	T	4: 143,994,335	L12Q	probably damaging	Het
Prpf4	A	G	4: 62,415,998	D230G	probably benign	Het
Rbm15b	C	T	9: 106,886,396	R191Q	probably benign	Het
Sec16a	G	A	2: 26,439,840	T721I	probably benign	Het
Serpinb6c	A	T	13: 33,899,326	I35N	probably damaging	Het
Sgk1	T	G	10: 21,995,827	S181A	probably benign	Het
Slc25a10	T	C	11: 120,494,969	S74P	probably damaging	Het
Slc30a3	C	A	5: 31,087,981	V332F	possibly damaging	Het
Smg1	A	G	7: 118,206,899	S240P	unknown	Het
Snapc4	G	A	2: 26,374,533	R265W	probably damaging	Het
Taar1	C	T	10: 23,921,078	R225C	possibly damaging	Het
Tmem74	A	G	15: 43,866,835	S271P	probably damaging	Het
Trank1	T	C	9: 111,312,221	V127A	unknown	Het
Trim66	G	T	7: 109,481,981	H244N	probably damaging	Het
Tshz2	T	A	2: 169,886,505	L1007H	probably damaging	Het
Ttc39c	A	T	18: 12,697,946	S288C	probably benign	Het
Twnk	C	T	19: 45,011,833	Q663*	probably null	Het
Ucn	T	A	5: 31,138,513	Q3L	probably benign	Het
Usp9y	C	T	Y: 1,395,758	R492H	probably damaging	Het
Vars	T	C	17: 35,015,644	S1150P	probably benign	Het
Zc3h7b	G	A	15: 81,772,480	R166Q	probably benign	Het
Zfand1	T	C	3: 10,340,751	D264G	probably benign	Het
Zfp839	A	G	12: 110,868,414	E701G	probably benign	Het

Other mutations in Olfr596

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00814:Olfr596	APN	7	103309807	missense	probably benign	0.03
IGL01917:Olfr596	APN	7	103310357	nonsense	probably null
G1patch:Olfr596	UTSW	7	103310354	missense	probably damaging	1.00
R0601:Olfr596	UTSW	7	103310164	missense	probably damaging	1.00
R0908:Olfr596	UTSW	7	103310573	missense	possibly damaging	0.56
R1762:Olfr596	UTSW	7	103310221	missense	probably damaging	1.00
R1772:Olfr596	UTSW	7	103310242	missense	possibly damaging	0.94
R1806:Olfr596	UTSW	7	103310225	missense	probably damaging	1.00
R2035:Olfr596	UTSW	7	103310256	missense	probably damaging	1.00
R2365:Olfr596	UTSW	7	103310173	missense	probably benign	0.00
R3827:Olfr596	UTSW	7	103309802	missense	probably benign	0.12
R4241:Olfr596	UTSW	7	103310661	makesense	probably null
R4619:Olfr596	UTSW	7	103309958	missense	probably benign	0.04
R4620:Olfr596	UTSW	7	103309958	missense	probably benign	0.04
R6279:Olfr596	UTSW	7	103310429	missense	probably benign
R6300:Olfr596	UTSW	7	103310429	missense	probably benign
R6505:Olfr596	UTSW	7	103309793	missense	probably benign	0.00
R6725:Olfr596	UTSW	7	103310354	missense	probably damaging	1.00
R7175:Olfr596	UTSW	7	103309847	missense	probably benign	0.22
R7708:Olfr596	UTSW	7	103310561	missense	probably damaging	1.00
R9035:Olfr596	UTSW	7	103309979	missense	probably damaging	1.00
R9162:Olfr596	UTSW	7	103309720	start gained	probably benign
R9489:Olfr596	UTSW	7	103310245	missense	probably benign	0.00
R9799:Olfr596	UTSW	7	103309858	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCTGGGCTGGAAGCTTTC -3'
(R):5'- ACAGGTCTCCCTATTACAACCG -3'

Sequencing Primer
(F):5'- CCATATCTGGATAGCCTTTCCTTTC -3'
(R):5'- CCACCACTTTGTTGGTGAGAATAGAG -3'

Posted On

2021-07-15