Mutagenetix > Incidental Mutation

Incidental Mutation 'R6289:Or5b110-ps1'

508327

Institutional Source

Beutler Lab

Gene Symbol

Or5b110-ps1

Ensembl Gene

Gene Name

olfactory receptor family 5 subfamily B member 110, pseudogene 1

Synonyms

Gm8561, GA_x6K02T2RE5P-3614075-3613153, Olfr1464-ps1, MOR202-27P

MMRRC Submission

044459-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R6289 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13259498-13260420 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13260158 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 88 (K88R)

Ref Sequence

ENSEMBL: ENSMUSP00000146502 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000208760]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208760
AA Change: K88R

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.3785

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	A	G	12: 81,607,480 (GRCm39)	V94A	probably damaging	Het
Ankrd36	T	C	11: 5,578,837 (GRCm39)	S34P	probably damaging	Het
Arid3c	G	A	4: 41,724,285 (GRCm39)		probably benign	Het
Atg16l1	C	T	1: 87,683,937 (GRCm39)	R6C	probably damaging	Het
Bex6	A	G	16: 32,005,530 (GRCm39)	I113V	probably benign	Het
Blk	T	C	14: 63,613,341 (GRCm39)		probably null	Het
C1s1	A	G	6: 124,508,135 (GRCm39)	F618S	probably damaging	Het
Casp8ap2	C	T	4: 32,639,590 (GRCm39)	H215Y	probably damaging	Het
Casp9	T	A	4: 141,534,496 (GRCm39)	V302E	probably damaging	Het
Ccl2	A	C	11: 81,927,795 (GRCm39)	K80Q	probably benign	Het
Cit	T	G	5: 116,144,385 (GRCm39)	*2014E	probably null	Het
Dclk2	A	T	3: 86,739,124 (GRCm39)	S292T	probably benign	Het
Ddx23	T	C	15: 98,547,765 (GRCm39)	E463G	probably benign	Het
Dennd1b	T	C	1: 139,096,683 (GRCm39)		probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fgf10	C	A	13: 118,852,028 (GRCm39)	Q37K	probably benign	Het
Fgf22	A	G	10: 79,591,041 (GRCm39)	D24G	probably damaging	Het
Gabra1	A	G	11: 42,045,846 (GRCm39)	I88T	probably damaging	Het
Grip2	A	G	6: 91,755,852 (GRCm39)	I586T	probably benign	Het
H1f5	G	T	13: 21,964,609 (GRCm39)	P39Q	probably damaging	Het
Hpse2	T	A	19: 42,777,418 (GRCm39)	N583Y	probably null	Het
Katnal2	A	G	18: 77,105,151 (GRCm39)		probably null	Het
Keg1	T	G	19: 12,691,937 (GRCm39)	C85G	probably damaging	Het
Kidins220	T	A	12: 25,106,615 (GRCm39)	L1356H	probably damaging	Het
Lifr	A	G	15: 7,196,391 (GRCm39)	K192E	probably benign	Het
Mks1	T	C	11: 87,750,485 (GRCm39)		probably null	Het
Rars1	C	T	11: 35,716,894 (GRCm39)	M207I	probably damaging	Het
Rbm6	T	C	9: 107,655,147 (GRCm39)	Y896C	probably damaging	Het
Scarf1	T	A	11: 75,416,242 (GRCm39)	W472R	possibly damaging	Het
Septin8	A	G	11: 53,425,305 (GRCm39)	N66S	probably damaging	Het
Smcr8	T	C	11: 60,669,424 (GRCm39)	F191L	probably damaging	Het
Tdrd6	A	G	17: 43,935,411 (GRCm39)	M1879T	probably benign	Het
Tlr3	C	T	8: 45,849,966 (GRCm39)	R901Q	probably benign	Het
Trpc4ap	T	C	2: 155,505,627 (GRCm39)	T203A	possibly damaging	Het
Tubgcp5	A	G	7: 55,445,671 (GRCm39)	S58G	probably benign	Het
Ubtd2	A	G	11: 32,466,177 (GRCm39)	E132G	probably damaging	Het
Uggt2	T	A	14: 119,279,014 (GRCm39)	E831V	probably damaging	Het
Umodl1	A	G	17: 31,201,325 (GRCm39)	N418S	probably benign	Het
Vmn2r106	C	T	17: 20,488,725 (GRCm39)	C558Y	probably damaging	Het
Wdhd1	A	C	14: 47,495,953 (GRCm39)	I637S	possibly damaging	Het

Other mutations in Or5b110-ps1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6196:Or5b110-ps1	UTSW	19	13,260,290 (GRCm39)	missense	probably benign	0.42
R6504:Or5b110-ps1	UTSW	19	13,259,848 (GRCm39)	missense	possibly damaging	0.81
R6523:Or5b110-ps1	UTSW	19	13,259,728 (GRCm39)	missense	probably benign	0.07
R7291:Or5b110-ps1	UTSW	19	13,259,517 (GRCm39)	missense	unknown
R7615:Or5b110-ps1	UTSW	19	13,259,954 (GRCm39)	missense	probably damaging	0.99
R8034:Or5b110-ps1	UTSW	19	13,260,215 (GRCm39)	missense	probably damaging	0.99
R9043:Or5b110-ps1	UTSW	19	13,260,074 (GRCm39)	missense	probably damaging	1.00
R9515:Or5b110-ps1	UTSW	19	13,259,558 (GRCm39)	missense	unknown
R9656:Or5b110-ps1	UTSW	19	13,260,035 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- CCAATGTGGATGGAGGCAATC -3'
(R):5'- CCTGCTTGGACTCACAGATG -3'

Sequencing Primer
(F):5'- TCAGGAAACCACAAGTATAGGC -3'
(R):5'- TTGGACTCACAGATGACCCAG -3'

Posted On

2018-03-15