Mutagenetix > Incidental Mutation

Incidental Mutation 'R6504:Or5b110-ps1'

523649

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

044636-MU

Accession Numbers

Essential gene?

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

Stock #

R6504 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13259498-13260420 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 13259848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 191 (H191Q)

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: H191Q

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,213,569 (GRCm39)	T31A	probably benign	Het
Adam12	A	T	7: 133,531,713 (GRCm39)	H507Q	probably damaging	Het
Ampd1	A	G	3: 103,006,911 (GRCm39)	D712G	possibly damaging	Het
Ap4m1	T	A	5: 138,176,358 (GRCm39)	D351E	probably benign	Het
Celsr1	T	C	15: 85,863,121 (GRCm39)	T1304A	probably benign	Het
Dhx36	G	T	3: 62,396,060 (GRCm39)	A449E	probably benign	Het
Dmkn	A	T	7: 30,475,854 (GRCm39)	K2N	possibly damaging	Het
Dnah10	T	C	5: 124,839,846 (GRCm39)	I1217T	possibly damaging	Het
Dph5	A	G	3: 115,720,452 (GRCm39)		probably null	Het
Dysf	T	C	6: 83,985,907 (GRCm39)	V4A	probably benign	Het
Elavl4	A	T	4: 110,112,579 (GRCm39)		probably null	Het
Ep400	T	C	5: 110,856,703 (GRCm39)		probably benign	Het
Fat2	A	G	11: 55,153,223 (GRCm39)	I3663T	probably benign	Het
Gm7233	T	A	14: 43,037,394 (GRCm39)	D15E	probably benign	Het
Grik2	A	G	10: 49,232,198 (GRCm39)	V444A	probably damaging	Het
Hdac4	T	A	1: 91,896,177 (GRCm39)	I698F	possibly damaging	Het
Kank1	T	C	19: 25,405,518 (GRCm39)	S1179P	probably damaging	Het
Kif1b	T	C	4: 149,277,053 (GRCm39)	M1337V	probably benign	Het
Med13l	T	A	5: 118,892,386 (GRCm39)	D1936E	probably benign	Het
Ofcc1	A	T	13: 40,250,531 (GRCm39)	L595Q	probably damaging	Het
Or10d3	C	T	9: 39,461,574 (GRCm39)	V198M	probably damaging	Het
Orc1	A	G	4: 108,447,914 (GRCm39)	I54V	probably benign	Het
Pom121l2	A	G	13: 22,167,631 (GRCm39)	Q634R	possibly damaging	Het
Prrc2c	A	G	1: 162,525,364 (GRCm39)	V414A	unknown	Het
Ranbp3l	T	C	15: 8,997,946 (GRCm39)	F13L	probably benign	Het
Scaf11	T	C	15: 96,317,341 (GRCm39)		probably null	Het
Sh3d19	A	G	3: 85,992,643 (GRCm39)	T224A	probably benign	Het
Shq1	T	A	6: 100,625,208 (GRCm39)	Y217F	probably benign	Het
Slitrk1	A	T	14: 109,149,129 (GRCm39)	H527Q	probably benign	Het
Smap2	GACTCTAC	GAC	4: 120,830,282 (GRCm39)		probably benign	Het
Stxbp1	T	C	2: 32,691,895 (GRCm39)	I432M	possibly damaging	Het
Sulf2	A	G	2: 165,925,841 (GRCm39)	Y439H	probably benign	Het
Thoc5	T	A	11: 4,874,815 (GRCm39)	C535*	probably null	Het
Tlr3	T	C	8: 45,850,486 (GRCm39)	I280V	possibly damaging	Het
Ush2a	A	G	1: 188,643,444 (GRCm39)	S4269G	probably benign	Het
Vmn1r214	A	T	13: 23,219,610 (GRCm39)	*368L	probably null	Het
Wif1	C	G	10: 120,870,996 (GRCm39)	Q92E	probably 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
R6289:Or5b110-ps1	UTSW	19	13,260,158 (GRCm39)	missense	possibly damaging	0.88
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'- GAGCTGGGCTGCAAATACATG -3'
(R):5'- TACACTATGCCACCACTATGACTTC -3'

Sequencing Primer
(F):5'- CTGGGCTGCAAATACATGAATATAAC -3'
(R):5'- ACCACTATGACTTCAGGTGTG -3'

Posted On

2018-06-22