Mutagenetix > Incidental Mutation

Incidental Mutation 'R2079:Or51t4'

229349

Institutional Source

Beutler Lab

Gene Symbol

Or51t4

Ensembl Gene

ENSMUSG00000045824

Gene Name

olfactory receptor family 51 subfamily T member 4

Synonyms

GA_x6K02T2PBJ9-5659738-5660748, MOR14-9, Olfr574

MMRRC Submission

040084-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

R2079 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102597674-102598714 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102598702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 333 (F333L)

Ref Sequence

ENSEMBL: ENSMUSP00000147694 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052997] [ENSMUST00000211329] [ENSMUST00000213477] [ENSMUST00000216420]

AlphaFold

F8VQ18

Predicted Effect

probably benign
Transcript: ENSMUST00000052997
AA Change: F343L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000095815
Gene: ENSMUSG00000045824
AA Change: F343L

Domain	Start	End	E-Value	Type
low complexity region	14	31	N/A	INTRINSIC
Pfam:7tm_4	44	323	3.8e-96	PFAM
Pfam:7TM_GPCR_Srsx	48	195	1.2e-8	PFAM
Pfam:7tm_1	54	305	2e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000211329
AA Change: F333L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000213477

Predicted Effect

probably benign
Transcript: ENSMUST00000216420

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	A	T	13: 104,598,746 (GRCm39)	R862S	probably benign	Het
Aldoa	T	C	7: 126,396,076 (GRCm39)	D164G	probably null	Het
Ankle2	T	C	5: 110,392,371 (GRCm39)	V459A	probably damaging	Het
Atp11a	A	G	8: 12,907,902 (GRCm39)	Y482C	probably damaging	Het
BC035947	A	G	1: 78,488,561 (GRCm39)		probably benign	Het
Cfap65	G	A	1: 74,956,358 (GRCm39)	R1074C	probably benign	Het
Ciart	G	T	3: 95,786,350 (GRCm39)	H242N	probably damaging	Het
Cidec	T	A	6: 113,402,615 (GRCm39)	M220L	probably benign	Het
Clca3a1	A	G	3: 144,713,534 (GRCm39)	I699T	possibly damaging	Het
Csf2rb2	T	C	15: 78,172,207 (GRCm39)	D401G	probably benign	Het
Cyp2j6	C	A	4: 96,419,962 (GRCm39)	L256F	possibly damaging	Het
Ddr2	A	T	1: 169,832,345 (GRCm39)	Y148*	probably null	Het
Depdc5	T	A	5: 33,104,018 (GRCm39)	I373N	possibly damaging	Het
Dpp10	A	T	1: 123,360,721 (GRCm39)	M268K	probably damaging	Het
Fam118b	C	A	9: 35,134,960 (GRCm39)	V216F	possibly damaging	Het
Fancd2	T	C	6: 113,532,148 (GRCm39)	V487A	probably damaging	Het
Fhad1	T	A	4: 141,718,513 (GRCm39)	R147*	probably null	Het
Flt3	A	G	5: 147,291,893 (GRCm39)	S544P	probably damaging	Het
Frem3	C	A	8: 81,341,732 (GRCm39)	Q1342K	probably benign	Het
Garin3	T	G	11: 46,295,934 (GRCm39)	V102G	probably benign	Het
Gimap4	T	C	6: 48,667,881 (GRCm39)	M84T	possibly damaging	Het
Gm20481	T	C	17: 35,189,196 (GRCm39)	K569R	probably benign	Het
Gm4871	A	C	5: 144,966,741 (GRCm39)	D247E	possibly damaging	Het
Gm5141	A	T	13: 62,922,424 (GRCm39)	N248K	probably benign	Het
Gulo	A	G	14: 66,227,832 (GRCm39)	Y367H	probably damaging	Het
Hap1	T	C	11: 100,244,572 (GRCm39)	E120G	probably damaging	Het
Heatr3	T	A	8: 88,868,404 (GRCm39)	N51K	probably damaging	Het
Hipk2	T	C	6: 38,795,720 (GRCm39)	D183G	probably damaging	Het
Hnrnpll	T	A	17: 80,342,806 (GRCm39)	T439S	probably benign	Het
Hoxd3	A	C	2: 74,574,610 (GRCm39)	E85D	probably damaging	Het
Ipo8	A	T	6: 148,690,660 (GRCm39)	M694K	probably damaging	Het
Jag2	A	G	12: 112,883,997 (GRCm39)	I194T	probably damaging	Het
Jrkl	A	T	9: 13,244,864 (GRCm39)	F266I	probably damaging	Het
Kcnt1	A	G	2: 25,790,260 (GRCm39)	I436V	possibly damaging	Het
Kdm3b	A	T	18: 34,936,570 (GRCm39)	D284V	probably damaging	Het
Khdrbs2	A	G	1: 32,506,955 (GRCm39)	T200A	probably benign	Het
Kmt2c	T	C	5: 25,557,278 (GRCm39)	D1143G	possibly damaging	Het
Kremen1	G	GGGGT	11: 5,151,794 (GRCm39)		probably null	Het
Lama2	A	C	10: 27,245,049 (GRCm39)	I244S	probably damaging	Het
Lama5	G	A	2: 179,867,301 (GRCm39)	P99S	possibly damaging	Het
Lrrc30	A	T	17: 67,938,875 (GRCm39)	L235Q	possibly damaging	Het
Man2b2	C	T	5: 36,971,716 (GRCm39)	V667M	possibly damaging	Het
Mmp2	T	A	8: 93,576,817 (GRCm39)	N77K	probably damaging	Het
Myo1a	A	G	10: 127,556,482 (GRCm39)	E1009G	probably benign	Het
Ndst1	A	G	18: 60,828,581 (GRCm39)	Y658H	probably damaging	Het
Nlrp10	A	G	7: 108,524,835 (GRCm39)	L215P	possibly damaging	Het
Nrbp1	T	C	5: 31,408,417 (GRCm39)	F526L	probably benign	Het
Or10p21	T	C	10: 128,847,898 (GRCm39)	V248A	probably damaging	Het
Padi2	T	C	4: 140,660,507 (GRCm39)	L329P	probably damaging	Het
Pcdhb20	A	G	18: 37,638,224 (GRCm39)	Q250R	probably benign	Het
Pcdhb3	T	A	18: 37,436,362 (GRCm39)	L776Q	possibly damaging	Het
Pik3cb	A	T	9: 98,942,257 (GRCm39)	M700K	probably benign	Het
Pla2g6	C	T	15: 79,197,194 (GRCm39)	V127M	probably damaging	Het
Rabgef1	T	C	5: 130,219,776 (GRCm39)	S80P	probably damaging	Het
Sema3a	C	T	5: 13,501,098 (GRCm39)	T47I	possibly damaging	Het
Sik2	C	T	9: 50,818,706 (GRCm39)		probably null	Het
Sin3a	T	C	9: 56,996,807 (GRCm39)	V112A	probably benign	Het
Slc26a6	G	A	9: 108,736,257 (GRCm39)	A472T	probably damaging	Het
Syne1	A	G	10: 5,311,502 (GRCm39)	V561A	probably benign	Het
Syt16	C	T	12: 74,285,073 (GRCm39)	T422I	probably damaging	Het
Tlr11	A	T	14: 50,598,437 (GRCm39)	H141L	probably damaging	Het
Tmem252	A	T	19: 24,655,017 (GRCm39)	E131D	probably benign	Het
Trim55	T	G	3: 19,698,830 (GRCm39)	L20V	probably damaging	Het
Uqcrfs1	A	T	13: 30,725,291 (GRCm39)	V83D	probably benign	Het
Utf1	C	T	7: 139,524,808 (GRCm39)	R309*	probably null	Het
Uxs1	T	C	1: 43,804,133 (GRCm39)	T261A	probably damaging	Het
Vmn1r24	T	C	6: 57,932,655 (GRCm39)	I288V	probably benign	Het
Vmn1r80	A	T	7: 11,927,121 (GRCm39)	D77V	probably damaging	Het
Vmn2r74	T	G	7: 85,606,383 (GRCm39)	H321P	probably benign	Het
Zfp638	T	C	6: 83,930,371 (GRCm39)		probably null	Het
Zwilch	T	A	9: 64,060,856 (GRCm39)	Q332L	probably damaging	Het
Zwilch	G	T	9: 64,060,857 (GRCm39)	Q332K	probably damaging	Het

Other mutations in Or51t4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01154:Or51t4	APN	7	102,598,046 (GRCm39)	missense	probably damaging	1.00
IGL01732:Or51t4	APN	7	102,598,446 (GRCm39)	missense	probably damaging	1.00
IGL02185:Or51t4	APN	7	102,597,721 (GRCm39)	missense	probably damaging	0.96
PIT4382001:Or51t4	UTSW	7	102,598,656 (GRCm39)	missense	probably benign
PIT4520001:Or51t4	UTSW	7	102,597,921 (GRCm39)	missense	probably damaging	1.00
R0765:Or51t4	UTSW	7	102,597,939 (GRCm39)	missense	probably damaging	1.00
R1616:Or51t4	UTSW	7	102,597,721 (GRCm39)	missense	probably damaging	0.96
R2041:Or51t4	UTSW	7	102,598,170 (GRCm39)	missense	probably damaging	0.98
R2261:Or51t4	UTSW	7	102,598,464 (GRCm39)	missense	probably damaging	1.00
R2263:Or51t4	UTSW	7	102,598,464 (GRCm39)	missense	probably damaging	1.00
R2513:Or51t4	UTSW	7	102,598,700 (GRCm39)	missense	probably benign
R2903:Or51t4	UTSW	7	102,598,661 (GRCm39)	missense	probably benign	0.05
R4445:Or51t4	UTSW	7	102,598,005 (GRCm39)	missense	possibly damaging	0.93
R4512:Or51t4	UTSW	7	102,597,945 (GRCm39)	missense	probably damaging	1.00
R4513:Or51t4	UTSW	7	102,597,945 (GRCm39)	missense	probably damaging	1.00
R4528:Or51t4	UTSW	7	102,598,013 (GRCm39)	missense	probably damaging	1.00
R4904:Or51t4	UTSW	7	102,598,272 (GRCm39)	missense	probably damaging	1.00
R5935:Or51t4	UTSW	7	102,598,017 (GRCm39)	missense	probably benign	0.01
R6784:Or51t4	UTSW	7	102,597,722 (GRCm39)	missense	possibly damaging	0.91
R6889:Or51t4	UTSW	7	102,597,975 (GRCm39)	missense	possibly damaging	0.94
R7082:Or51t4	UTSW	7	102,598,455 (GRCm39)	missense	probably damaging	1.00
R7125:Or51t4	UTSW	7	102,598,386 (GRCm39)	missense	probably damaging	0.99
R7549:Or51t4	UTSW	7	102,597,798 (GRCm39)	missense	possibly damaging	0.92
R7564:Or51t4	UTSW	7	102,598,473 (GRCm39)	missense	probably damaging	1.00
R7947:Or51t4	UTSW	7	102,598,278 (GRCm39)	missense	probably damaging	1.00
R8460:Or51t4	UTSW	7	102,598,531 (GRCm39)	nonsense	probably null
R8518:Or51t4	UTSW	7	102,597,804 (GRCm39)	missense	probably damaging	1.00
R8859:Or51t4	UTSW	7	102,598,373 (GRCm39)	missense	probably damaging	1.00
R9116:Or51t4	UTSW	7	102,598,527 (GRCm39)	missense	possibly damaging	0.87
R9327:Or51t4	UTSW	7	102,597,687 (GRCm39)	missense	probably benign	0.00
R9408:Or51t4	UTSW	7	102,598,443 (GRCm39)	missense	probably damaging	1.00
Z1177:Or51t4	UTSW	7	102,597,959 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTCCCAGGGTGATCTGTAG -3'
(R):5'- ATCATTTTGCACATGAGAGTCC -3'

Sequencing Primer
(F):5'- AGTATTTTGGGCAATATGTATCTGC -3'
(R):5'- CAAAGGCATCTGGCTTTCT -3'

Posted On

2014-09-17