Mutagenetix > Incidental Mutation

Incidental Mutation 'R4904:Or51t4'

378032

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

042507-MU

Accession Numbers

Essential gene?

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

Stock #

R4904 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102597674-102598714 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102598272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 190 (Y190C)

Ref Sequence

ENSEMBL: ENSMUSP00000147694 (fasta)

Gene Model

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

AlphaFold

F8VQ18

Predicted Effect

probably damaging
Transcript: ENSMUST00000052997
AA Change: Y200C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095815
Gene: ENSMUSG00000045824
AA Change: Y200C

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 damaging
Transcript: ENSMUST00000211329
AA Change: Y190C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000213477

Predicted Effect

probably benign
Transcript: ENSMUST00000216420

Meta Mutation Damage Score

0.2428

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

94% (82/87)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	T	G	4: 129,906,332 (GRCm39)	I920S	possibly damaging	Het
Afap1l1	A	G	18: 61,871,786 (GRCm39)	I556T	probably benign	Het
Ankfy1	C	A	11: 72,642,931 (GRCm39)	H665N	probably benign	Het
Aqp9	A	C	9: 71,069,685 (GRCm39)		probably benign	Het
Arhgap21	A	G	2: 20,854,872 (GRCm39)	S1497P	probably benign	Het
Armc7	A	G	11: 115,379,800 (GRCm39)	D166G	probably damaging	Het
Arrdc1	C	A	2: 24,816,676 (GRCm39)	V167F	possibly damaging	Het
Col6a3	A	T	1: 90,729,164 (GRCm39)	I1259N	probably damaging	Het
Coq8a	C	T	1: 180,006,168 (GRCm39)	R207Q	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dcbld1	C	T	10: 52,196,066 (GRCm39)	Q425*	probably null	Het
Def8	A	G	8: 124,188,219 (GRCm39)	N445D	probably damaging	Het
Dicer1	C	T	12: 104,679,325 (GRCm39)	V551I	probably benign	Het
Dst	A	T	1: 34,208,879 (GRCm39)	T800S	probably damaging	Het
Dtl	A	T	1: 191,300,457 (GRCm39)	C136S	probably damaging	Het
Duox1	T	A	2: 122,151,345 (GRCm39)	Y310N	probably damaging	Het
Duxf1	T	A	10: 58,059,309 (GRCm39)	R482*	probably null	Het
Ebf1	T	C	11: 44,759,996 (GRCm39)	F211S	probably damaging	Het
Gm44501	A	T	17: 40,889,884 (GRCm39)	I133F	possibly damaging	Het
Gm6625	T	C	8: 89,873,379 (GRCm39)		noncoding transcript	Het
Golgb1	A	T	16: 36,713,748 (GRCm39)	D243V	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Gtf2a1l	G	A	17: 88,997,471 (GRCm39)		probably null	Het
Herc2	T	C	7: 55,807,234 (GRCm39)	F2471L	probably damaging	Het
Hfe	A	T	13: 23,892,037 (GRCm39)	I109N	probably damaging	Het
Hrg	A	G	16: 22,770,000 (GRCm39)	E43G	probably benign	Het
Hspa1a	T	C	17: 35,189,427 (GRCm39)	D492G	probably damaging	Het
Itgb8	T	C	12: 119,134,606 (GRCm39)	D487G	probably benign	Het
Jag1	A	G	2: 136,929,062 (GRCm39)	V798A	probably damaging	Het
Kcnq5	A	G	1: 21,494,324 (GRCm39)	V501A	probably damaging	Het
Kntc1	T	C	5: 123,916,396 (GRCm39)	V743A	possibly damaging	Het
Ly86	G	T	13: 37,599,496 (GRCm39)	V126F	possibly damaging	Het
Med26	A	T	8: 73,250,691 (GRCm39)	L136H	probably damaging	Het
Mpp3	T	C	11: 101,891,413 (GRCm39)	D575G	probably benign	Het
Myoc	G	A	1: 162,466,994 (GRCm39)	M54I	probably benign	Het
Nlrp1c-ps	A	G	11: 71,133,454 (GRCm39)		noncoding transcript	Het
Or10v9	C	T	19: 11,833,231 (GRCm39)	V29M	possibly damaging	Het
Or5v1b	A	G	17: 37,841,522 (GRCm39)	Y218C	probably damaging	Het
Pak5	A	T	2: 135,925,267 (GRCm39)	D678E	probably benign	Het
Pcdhb12	T	C	18: 37,570,909 (GRCm39)	V685A	possibly damaging	Het
Pcdhga2	A	G	18: 37,802,932 (GRCm39)	T259A	possibly damaging	Het
Pde6a	A	T	18: 61,398,105 (GRCm39)	M702L	probably benign	Het
Pigq	A	G	17: 26,150,034 (GRCm39)		probably benign	Het
Polrmt	A	G	10: 79,582,385 (GRCm39)	M1T	probably null	Het
Ptch1	A	C	13: 63,670,818 (GRCm39)	I904S	probably damaging	Het
Rflnb	A	T	11: 75,912,964 (GRCm39)	C141*	probably null	Het
Rilpl1	C	A	5: 124,652,807 (GRCm39)		probably null	Het
Rpgrip1	T	C	14: 52,358,544 (GRCm39)	S217P	possibly damaging	Het
Rpgrip1	A	T	14: 52,397,586 (GRCm39)	I1292F	probably damaging	Het
Sema3a	A	C	5: 13,631,066 (GRCm39)	Y534S	probably damaging	Het
Sez6	A	G	11: 77,866,080 (GRCm39)	Y736C	probably damaging	Het
Shank1	G	T	7: 43,983,464 (GRCm39)		probably benign	Het
Slc45a4	G	A	15: 73,458,691 (GRCm39)	S294F	probably benign	Het
Slc9a8	A	G	2: 167,313,316 (GRCm39)	I393V	possibly damaging	Het
Sod1	T	A	16: 90,019,732 (GRCm39)	F46Y	probably damaging	Het
Sult1b1	T	C	5: 87,682,912 (GRCm39)	D11G	probably benign	Het
Syn3	T	G	10: 86,302,950 (GRCm39)	K68N	possibly damaging	Het
Taar8c	C	T	10: 23,977,147 (GRCm39)	V222I	probably benign	Het
Tbx20	T	C	9: 24,670,129 (GRCm39)	K235E	probably damaging	Het
Tcaf3	C	A	6: 42,570,931 (GRCm39)	E274*	probably null	Het
Tll1	A	T	8: 64,523,233 (GRCm39)	M493K	probably benign	Het
Tmem236	T	A	2: 14,200,803 (GRCm39)	S123T	probably benign	Het
Trim33	T	C	3: 103,238,963 (GRCm39)	V647A	possibly damaging	Het
Tspear	T	A	10: 77,705,489 (GRCm39)	Y296N	possibly damaging	Het
Vps13d	T	C	4: 144,882,015 (GRCm39)	K1187E	probably damaging	Het
Xpot	C	T	10: 121,453,083 (GRCm39)	V52I	probably benign	Het
Zdhhc3	A	T	9: 122,929,452 (GRCm39)	V61E	probably damaging	Het
Zfp955a	A	T	17: 33,461,162 (GRCm39)	C323*	probably null	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
R2079:Or51t4	UTSW	7	102,598,702 (GRCm39)	missense	probably benign	0.00
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
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'- TGCAGCCCTCTGAAGTATGC -3'
(R):5'- CAGACAGGGTGATCATTGGC -3'

Sequencing Primer
(F):5'- CTACTTTCCTGACAGACATGATGAGC -3'
(R):5'- CATTGGCACATAGAAAATGGTCAC -3'

Posted On

2016-04-15