Mutagenetix > Incidental Mutation

Incidental Mutation 'R6770:Or8c14-ps1'

532132

Institutional Source

Beutler Lab

Gene Symbol

Or8c14-ps1

Ensembl Gene

ENSMUSG00000058521

Gene Name

olfactory receptor family 8 subfamily C member 14, pseudogene 1

Synonyms

MOR170-12, GA_x6K02T2PVTD-31869885-31870831, Olfr892-ps1

MMRRC Submission

044886-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.171) question?

Stock #

R6770 (G1)

Quality Score

159.009

Status

Validated

Chromosome

Chromosomal Location

38101095-38101951 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38101479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 153 (F153L)

Ref Sequence

ENSEMBL: ENSMUSP00000148450 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000211998]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211998
AA Change: F153L

PolyPhen 2 Score 0.530 (Sensitivity: 0.88; Specificity: 0.90)

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adk	A	G	14: 21,284,982 (GRCm39)	K102E	probably damaging	Het
Bach2	G	A	4: 32,575,240 (GRCm39)	V489I	possibly damaging	Het
Bin1	A	G	18: 32,539,202 (GRCm39)	E45G	probably damaging	Het
Btnl4	A	G	17: 34,693,011 (GRCm39)	Y135H	probably benign	Het
Btnl9	T	C	11: 49,066,392 (GRCm39)		probably null	Het
Cdh10	A	G	15: 18,985,308 (GRCm39)	D324G	probably benign	Het
Cfi	T	C	3: 129,652,379 (GRCm39)	S269P	probably benign	Het
Ctbp1	G	A	5: 33,408,204 (GRCm39)	Q243*	probably null	Het
Dnajc1	G	T	2: 18,222,082 (GRCm39)		probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fbxo39	T	G	11: 72,208,622 (GRCm39)	S325A	possibly damaging	Het
Gbe1	T	C	16: 70,198,726 (GRCm39)	S140P	probably damaging	Het
Gbe1	T	A	16: 70,111,153 (GRCm39)	L38Q	possibly damaging	Het
Gm5114	T	C	7: 39,057,967 (GRCm39)	S551G	possibly damaging	Het
Ina	C	T	19: 47,003,366 (GRCm39)		probably benign	Het
Irs3	A	G	5: 137,643,475 (GRCm39)	V103A	possibly damaging	Het
Ldb2	T	A	5: 44,826,738 (GRCm39)	T66S	probably damaging	Het
Lrp4	C	T	2: 91,327,648 (GRCm39)	A1499V	probably benign	Het
Nde1	G	A	16: 14,006,242 (GRCm39)	V96I	probably damaging	Het
Nrap	T	C	19: 56,370,969 (GRCm39)		probably null	Het
Nrxn1	G	T	17: 90,344,607 (GRCm39)	N435K	probably damaging	Het
Obscn	T	C	11: 58,934,862 (GRCm39)	D5256G	possibly damaging	Het
Or1e25	A	G	11: 73,493,804 (GRCm39)	T133A	probably benign	Het
Or4a75	A	G	2: 89,448,206 (GRCm39)	V110A	probably benign	Het
Or52n20	T	A	7: 104,320,725 (GRCm39)	I272N	probably damaging	Het
Otoa	T	A	7: 120,744,837 (GRCm39)	M865K	probably benign	Het
Otud1	A	G	2: 19,663,993 (GRCm39)	E374G	probably benign	Het
Pigz	T	A	16: 31,764,568 (GRCm39)	L542H	probably damaging	Het
Plekhg5	A	G	4: 152,187,536 (GRCm39)	T101A	probably benign	Het
Ppic	A	T	18: 53,544,657 (GRCm39)	V51E	probably benign	Het
Ptpn14	G	A	1: 189,564,970 (GRCm39)	V186M	probably damaging	Het
Ryr2	T	A	13: 11,753,348 (GRCm39)	T1658S	probably damaging	Het
Scn7a	T	A	2: 66,559,528 (GRCm39)		probably null	Het
Siva1	G	A	12: 112,614,358 (GRCm39)	C73Y	probably damaging	Het
Slc4a1ap	G	A	5: 31,685,226 (GRCm39)		probably null	Het
Sltm	A	G	9: 70,492,059 (GRCm39)	I683V	unknown	Het
Srgap2	A	T	1: 131,226,248 (GRCm39)	C22S	probably benign	Het
Stxbp1	C	T	2: 32,709,901 (GRCm39)	R64H	probably benign	Het
Suv39h2	T	C	2: 3,473,588 (GRCm39)	N114S	possibly damaging	Het
Tas2r136	T	C	6: 132,754,345 (GRCm39)	I261V	probably benign	Het
Trav14-2	A	C	14: 53,878,629 (GRCm39)	H76P	probably damaging	Het
Ttc28	T	C	5: 111,434,006 (GRCm39)	S2316P	probably damaging	Het
Ubr4	T	C	4: 139,216,493 (GRCm39)	I5141T	unknown	Het
Usp46	A	G	5: 74,193,015 (GRCm39)	V87A	probably benign	Het
Zfp423	T	C	8: 88,508,445 (GRCm39)	N612S	probably damaging	Het

Other mutations in Or8c14-ps1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6128:Or8c14-ps1	UTSW	9	38,101,299 (GRCm39)	missense	probably benign	0.32
R7060:Or8c14-ps1	UTSW	9	38,101,392 (GRCm39)	missense	probably damaging	1.00
R7487:Or8c14-ps1	UTSW	9	38,101,356 (GRCm39)	missense	probably damaging	1.00
R7841:Or8c14-ps1	UTSW	9	38,101,777 (GRCm39)	missense	unknown
R8080:Or8c14-ps1	UTSW	9	38,101,885 (GRCm39)	missense	unknown
R8443:Or8c14-ps1	UTSW	9	38,101,498 (GRCm39)	missense	possibly damaging	0.53
R8781:Or8c14-ps1	UTSW	9	38,101,385 (GRCm39)	missense	probably damaging	1.00
R9206:Or8c14-ps1	UTSW	9	38,101,120 (GRCm39)	missense	possibly damaging	0.79
R9208:Or8c14-ps1	UTSW	9	38,101,120 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- TTCAGAGGATGCATGACTCAGC -3'
(R):5'- ACCAACCCTTACCTGATGACATATG -3'

Sequencing Primer
(F):5'- AGGATGCATGACTCAGCTGTTTTTC -3'
(R):5'- TGATAGATGTGCCCACCA -3'

Posted On

2018-08-29