Mutagenetix > Incidental Mutation

Incidental Mutation 'R6443:Or1e1b-ps1'

519100

Institutional Source

Beutler Lab

Gene Symbol

Or1e1b-ps1

Ensembl Gene

ENSMUSG00000079875

Gene Name

olfactory receptor family 1 subfamily E member 1B, pseudogene 1

Synonyms

Olfr22-ps1, MTPCR35, GA_x6K02T2P1NL-4111497-4112433, MOR135-18

MMRRC Submission

044581-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R6443 (G1)

Quality Score

214.009

Status

Validated

Chromosome

Chromosomal Location

73845518-73846451 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73845918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 134 (Q134L)

Ref Sequence

ENSEMBL: ENSMUSP00000145605 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115991]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000115991
AA Change: Q134L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 91.9%

Validation Efficiency

97% (37/38)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	A	G	9: 4,309,357 (GRCm39)	L27P	probably damaging	Het
Actr6	T	C	10: 89,550,733 (GRCm39)	N354D	probably damaging	Het
Apbb1	T	A	7: 105,222,970 (GRCm39)	N214Y	probably damaging	Het
Bcar1	A	T	8: 112,441,970 (GRCm39)	V290E	probably damaging	Het
Ces1f	T	A	8: 94,001,993 (GRCm39)	Q45L	probably benign	Het
Ctss	A	C	3: 95,454,114 (GRCm39)	K221T	probably benign	Het
Dclre1b	T	A	3: 103,710,504 (GRCm39)	N469I	possibly damaging	Het
Dnah12	C	A	14: 26,600,008 (GRCm39)	Q3683K	probably benign	Het
Dnah8	A	G	17: 30,990,859 (GRCm39)	I3301V	probably benign	Het
Ephb4	G	A	5: 137,358,711 (GRCm39)	G298E	probably damaging	Het
Eya3	T	C	4: 132,439,238 (GRCm39)	F455L	probably damaging	Het
Fkbp5	G	T	17: 28,648,253 (GRCm39)	A112D	probably damaging	Het
Glud1	T	C	14: 34,061,884 (GRCm39)	M468T	probably benign	Het
Gm5114	C	A	7: 39,057,141 (GRCm39)	R826L	possibly damaging	Het
Gramd2b	G	A	18: 56,618,457 (GRCm39)	V222I	probably benign	Het
Kif1b	T	C	4: 149,277,053 (GRCm39)	M1337V	probably benign	Het
Lpin2	T	C	17: 71,548,663 (GRCm39)	S576P	probably benign	Het
Lrrc1	A	G	9: 77,341,314 (GRCm39)	F415L	probably damaging	Het
Mtmr3	A	T	11: 4,437,358 (GRCm39)	I1032K	probably damaging	Het
Nr5a1	G	A	2: 38,600,442 (GRCm39)	T75M	probably damaging	Het
Nwd1	G	A	8: 73,388,994 (GRCm39)	V141I	possibly damaging	Het
Or5ar1	T	G	2: 85,671,979 (GRCm39)	D52A	probably damaging	Het
Or6c214	C	A	10: 129,591,277 (GRCm39)	G14V	probably damaging	Het
Pla1a	T	C	16: 38,229,949 (GRCm39)		probably null	Het
Ppp1r36	A	G	12: 76,464,413 (GRCm39)	S4G	probably benign	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Homo
Ryr1	A	T	7: 28,776,503 (GRCm39)	M2204K	probably damaging	Het
Ryr3	T	C	2: 112,506,278 (GRCm39)	N3428S	possibly damaging	Het
Slc6a4	A	G	11: 76,914,027 (GRCm39)	K526E	probably benign	Het
Slc9a8	G	A	2: 167,276,741 (GRCm39)	R78H	probably benign	Het
Sptbn1	T	C	11: 30,089,429 (GRCm39)	D611G	possibly damaging	Het
Sstr2	G	A	11: 113,516,080 (GRCm39)		probably null	Het
Tcf7	G	T	11: 52,144,765 (GRCm39)	T286N	probably benign	Het
Txndc5	A	G	13: 38,712,179 (GRCm39)	M69T	possibly damaging	Het
Usp48	T	A	4: 137,341,074 (GRCm39)	V358E	probably damaging	Het
Vmn2r1	T	A	3: 64,012,374 (GRCm39)	I745K	possibly damaging	Het
Zfp354b	A	G	11: 50,813,581 (GRCm39)	I448T	possibly damaging	Het
Zfp523	A	T	17: 28,420,381 (GRCm39)	T189S	probably damaging	Het

Other mutations in Or1e1b-ps1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4997:Or1e1b-ps1	UTSW	11	73,845,612 (GRCm39)	missense	probably damaging	1.00
R7074:Or1e1b-ps1	UTSW	11	73,845,975 (GRCm39)	missense	probably benign	0.24
R7206:Or1e1b-ps1	UTSW	11	73,845,647 (GRCm39)	missense	probably benign	0.41
R7421:Or1e1b-ps1	UTSW	11	73,846,335 (GRCm39)	missense	unknown
R7554:Or1e1b-ps1	UTSW	11	73,845,630 (GRCm39)	missense	probably damaging	1.00
R7587:Or1e1b-ps1	UTSW	11	73,846,010 (GRCm39)	nonsense	probably null
R7788:Or1e1b-ps1	UTSW	11	73,845,948 (GRCm39)	missense	probably benign	0.01
R8710:Or1e1b-ps1	UTSW	11	73,845,694 (GRCm39)	missense	possibly damaging	0.95
R9434:Or1e1b-ps1	UTSW	11	73,845,662 (GRCm39)	missense	probably damaging	1.00
R9665:Or1e1b-ps1	UTSW	11	73,845,656 (GRCm39)	missense	probably benign	0.22
Z1177:Or1e1b-ps1	UTSW	11	73,845,939 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- CACAATGCCCAAGTTGCTGC -3'
(R):5'- ATGGAAGTACGACACCAAGC -3'

Sequencing Primer
(F):5'- CAAGTTGCTGCTGAACATGC -3'
(R):5'- CCTCATTAACATGGGTGTCAGAGC -3'

Posted On

2018-05-24