Mutagenetix > Incidental Mutation

Incidental Mutation 'R7564:Or51t4'

585313

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

045656-MU

Accession Numbers

Essential gene?

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

Stock #

R7564 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102597674-102598714 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 102598473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 267 (P267L)

Ref Sequence

ENSEMBL: ENSMUSP00000095815 (fasta)

Gene Model

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

AlphaFold

F8VQ18

Predicted Effect

probably damaging
Transcript: ENSMUST00000052997
AA Change: P267L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095815
Gene: ENSMUSG00000045824
AA Change: P267L

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: P257L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000213477

Predicted Effect

probably benign
Transcript: ENSMUST00000216420

Meta Mutation Damage Score

0.6064

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

98% (56/57)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	G	A	9: 104,000,288 (GRCm39)	E681K	possibly damaging	Het
Accsl	A	T	2: 93,688,501 (GRCm39)	M411K	possibly damaging	Het
Amn1	C	T	6: 149,086,529 (GRCm39)	M44I	probably benign	Het
Bag4	G	A	8: 26,267,507 (GRCm39)	R108*	probably null	Het
Cpa1	C	T	6: 30,641,767 (GRCm39)	T197M	probably damaging	Het
Cyb561d2	A	G	9: 107,418,218 (GRCm39)	V50A	probably benign	Het
Dact1	A	G	12: 71,365,325 (GRCm39)	D665G	probably damaging	Het
Dcaf4	G	A	12: 83,588,297 (GRCm39)	V499I	probably damaging	Het
Depdc5	T	G	5: 33,058,854 (GRCm39)	I274M	probably damaging	Het
Dnah3	T	A	7: 119,570,817 (GRCm39)	Q2219L	probably benign	Het
Ect2	A	T	3: 27,170,272 (GRCm39)		probably benign	Het
Efcab14	C	A	4: 115,617,159 (GRCm39)	S289R	probably benign	Het
Fmn2	T	C	1: 174,437,140 (GRCm39)	L1037P	unknown	Het
Fsip2	G	A	2: 82,819,361 (GRCm39)	M5031I	probably benign	Het
Gm19410	A	G	8: 36,274,151 (GRCm39)	M1435V	probably benign	Het
Gm8005	G	T	14: 42,261,499 (GRCm39)	Q44K		Het
Hdgfl2	T	A	17: 56,406,860 (GRCm39)	D591E	unknown	Het
Hk3	C	A	13: 55,159,209 (GRCm39)	C449F	probably damaging	Het
Hmcn1	T	C	1: 150,531,586 (GRCm39)	M3228V	probably benign	Het
Kifap3	C	T	1: 163,743,337 (GRCm39)	R773C	probably damaging	Het
Kndc1	T	C	7: 139,500,612 (GRCm39)	V659A	probably benign	Het
Lhb	C	T	7: 45,071,101 (GRCm39)	R109C	probably damaging	Het
Lnpep	A	G	17: 17,798,854 (GRCm39)	I267T	probably benign	Het
Lypla1	T	A	1: 4,878,590 (GRCm39)		probably null	Het
Map3k21	T	C	8: 126,654,447 (GRCm39)		probably null	Het
Mapkbp1	A	G	2: 119,844,232 (GRCm39)	T319A	probably benign	Het
Mms19	T	C	19: 41,935,455 (GRCm39)	T854A	probably benign	Het
Mphosph8	A	G	14: 56,911,495 (GRCm39)	T173A	probably benign	Het
Mtcl1	C	T	17: 66,678,322 (GRCm39)	R668H	probably benign	Het
Myo5b	G	A	18: 74,767,582 (GRCm39)	E297K	possibly damaging	Het
Nrg2	A	T	18: 36,157,449 (GRCm39)	L412Q	probably damaging	Het
Nrtn	T	C	17: 57,058,473 (GRCm39)	D176G	probably damaging	Het
Nrxn1	G	T	17: 90,670,334 (GRCm39)	Q1134K	possibly damaging	Het
Oog4	CAA	CA	4: 143,164,022 (GRCm39)		probably null	Het
Pick1	T	C	15: 79,139,781 (GRCm39)	V360A	unknown	Het
Pigr	T	A	1: 130,769,403 (GRCm39)	N71K	possibly damaging	Het
Ppox	T	C	1: 171,107,765 (GRCm39)	N96S	probably benign	Het
Pramel29	C	A	4: 143,939,525 (GRCm39)	C4F	probably damaging	Het
Qrfprl	G	T	6: 65,429,891 (GRCm39)	E196*	probably null	Het
Rasa1	T	C	13: 85,376,827 (GRCm39)	T603A	probably benign	Het
Rhd	T	C	4: 134,603,770 (GRCm39)	L97P	probably damaging	Het
Sec61a2	T	C	2: 5,887,415 (GRCm39)	I147V	probably benign	Het
Sh3bp1	C	T	15: 78,795,760 (GRCm39)	P630S	probably damaging	Het
Sh3d21	T	C	4: 126,044,937 (GRCm39)	T581A	probably benign	Het
Slc36a2	A	G	11: 55,053,498 (GRCm39)	I380T	probably benign	Het
Slc36a4	T	A	9: 15,638,108 (GRCm39)	V178D	probably damaging	Het
Smad7	C	A	18: 75,526,906 (GRCm39)	L251I	probably benign	Het
Sspo	G	A	6: 48,426,434 (GRCm39)	S151N	probably benign	Het
St3gal4	C	T	9: 34,963,549 (GRCm39)	R253Q	probably benign	Het
Trappc14	C	A	5: 138,261,104 (GRCm39)		probably null	Het
Ttbk1	T	C	17: 46,787,857 (GRCm39)	I242V	possibly damaging	Het
Ttn	G	A	2: 76,798,864 (GRCm39)	A470V	unknown	Het
Unc13b	T	C	4: 43,091,258 (GRCm39)	V28A	probably damaging	Het
Vmn1r149	A	G	7: 22,137,530 (GRCm39)	V42A	possibly damaging	Het
Zbtb21	A	T	16: 97,752,740 (GRCm39)	C514*	probably null	Het
Zfp236	A	T	18: 82,662,366 (GRCm39)	C570*	probably null	Het
Zfp277	T	A	12: 40,379,594 (GRCm39)	R313S	probably damaging	Het
Zfp329	A	T	7: 12,544,967 (GRCm39)	C186S	probably damaging	Het
Zscan4-ps2	A	G	7: 11,248,954 (GRCm39)		probably benign	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
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
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'- TCAGCAGCTTCTGGGGAATG -3'
(R):5'- TGGAAAATTGTCTCCTTCTAGCC -3'

Sequencing Primer
(F):5'- GGGGAATGTTTCTTCAGCTCTACC -3'
(R):5'- AAGGCTCCTCATACTGTAGCC -3'

Posted On

2019-10-17