Mutagenetix > Incidental Mutations

Incidental Mutation 'R8671:BC027072'

661184

Institutional Source

Beutler Lab

Gene Symbol

BC027072

Ensembl Gene

ENSMUSG00000044375

Gene Name

cDNA sequence BC027072

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R8671 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71743557-71752885 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 71751377 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 435 (A435E)

Ref Sequence

ENSEMBL: ENSMUSP00000051871 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057405]

Predicted Effect

probably benign
Transcript: ENSMUST00000057405
AA Change: A435E

PolyPhen 2 Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000051871
Gene: ENSMUSG00000044375
AA Change: A435E

Domain	Start	End	E-Value	Type
Pfam:Retinal	1	1255	N/A	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (48/48)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a knock-out allele develop severe early-onset retinal degeneration associated with a disorganized outer segment, progressive thinning of the outer nuclear layer, microglia activation, decreased a- and b-wave amplitudes, and nearly undetectable ERG responses by 8 weeks of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	C	T	4: 73,942,929	E145K	probably damaging	Het
4930430A15Rik	T	C	2: 111,229,532		probably benign	Het
4930467E23Rik	T	A	8: 19,734,759	L203*	probably null	Het
Ambp	A	T	4: 63,150,419	Y120*	probably null	Het
Ankrd36	C	T	11: 5,629,312	A192V	probably benign	Het
Apol7e	A	T	15: 77,717,603	M134L	probably benign	Het
Atg9b	A	T	5: 24,386,109	N774K	probably benign	Het
Catsperb	T	A	12: 101,594,337	N862K	possibly damaging	Het
Ccdc7a	T	A	8: 128,920,467	D648V	probably damaging	Het
Cfap54	G	T	10: 92,955,072	P1855T	unknown	Het
Clcnkb	T	A	4: 141,412,230	T154S	probably damaging	Het
Cux1	C	T	5: 136,250,600	R609H	probably damaging	Het
Eif2ak4	A	G	2: 118,422,186	D413G	possibly damaging	Het
Flnc	T	C	6: 29,443,502		probably null	Het
Grm5	T	C	7: 88,116,290		probably null	Het
Hectd3	T	G	4: 116,996,581	F225V	possibly damaging	Het
Hpcal4	G	T	4: 123,189,183	M107I	probably benign	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Ikbkap	A	G	4: 56,771,453	L948P	probably damaging	Het
Larp4	C	A	15: 100,010,458	Q607K	probably benign	Het
March8	A	G	6: 116,401,854	R250G	probably benign	Het
Med13	A	C	11: 86,271,097	N2135K	probably damaging	Het
Msh5	T	A	17: 35,045,933	R89*	probably null	Het
Musk	T	G	4: 58,286,051		probably benign	Het
Myo18b	T	C	5: 112,874,743	Q261R	unknown	Het
Npr1	A	T	3: 90,456,157		probably benign	Het
Nynrin	T	A	14: 55,870,442	V1002E	possibly damaging	Het
Olfr1138	A	T	2: 87,737,646	L226Q	probably damaging	Het
Olfr1195	A	T	2: 88,683,105	F209Y	probably benign	Het
Olfr1315-ps1	T	A	2: 112,110,988	K88M	probably damaging	Het
Olfr167	T	C	16: 19,515,054	Y194C	possibly damaging	Het
Pcdh9	T	C	14: 93,888,650	Y28C	probably damaging	Het
Pmpca	G	C	2: 26,395,034	E424Q	possibly damaging	Het
Prkd1	T	A	12: 50,388,408	N512I	probably benign	Het
Pwwp2b	C	T	7: 139,256,410	P589L	probably damaging	Het
Rasgrp4	G	A	7: 29,143,027	G242D	probably damaging	Het
Rcbtb1	T	G	14: 59,230,524	V480G	probably damaging	Het
Rptn	A	G	3: 93,398,194	S945G	probably benign	Het
Slc22a2	C	T	17: 12,605,976	Q242*	probably null	Het
Slfn3	T	A	11: 83,212,999	V232E	probably benign	Het
Stab1	T	A	14: 31,157,408	K705M	probably damaging	Het
Syn2	C	A	6: 115,278,167	S480*	probably null	Het
Thsd4	A	T	9: 60,394,445	L189H	probably damaging	Het
Tinagl1	T	C	4: 130,167,804	T250A	probably benign	Het
Tnc	A	T	4: 64,017,446	C418S	probably damaging	Het
Ube2q1	A	G	3: 89,776,078	E110G	probably damaging	Het
Wdfy4	G	T	14: 32,971,765		probably benign	Het
Xcl1	T	C	1: 164,931,850	M94V	probably benign	Het
Zfp369	T	C	13: 65,296,281	S413P	possibly damaging	Het
Zfp454	A	C	11: 50,873,768	I279S	possibly damaging	Het
Zfp971	A	C	2: 178,033,937	Q443P	probably damaging	Het

Other mutations in BC027072

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02010:BC027072	APN	17	71749464	missense	probably benign	0.38
IGL02033:BC027072	APN	17	71751081	missense	probably damaging	1.00
IGL02711:BC027072	APN	17	71749382	missense	probably benign	0.15
IGL03185:BC027072	APN	17	71749337	missense	probably damaging	0.98
IGL03242:BC027072	APN	17	71750271	missense	probably benign	0.01
R0367:BC027072	UTSW	17	71750476	missense	probably damaging	1.00
R0413:BC027072	UTSW	17	71752217	missense	probably benign	0.38
R0465:BC027072	UTSW	17	71750160	missense	probably benign	0.42
R0535:BC027072	UTSW	17	71752439	missense	probably benign	0.01
R0681:BC027072	UTSW	17	71749514	missense	probably benign	0.00
R0736:BC027072	UTSW	17	71744664	missense	probably benign	0.00
R1406:BC027072	UTSW	17	71749161	missense	probably benign	0.18
R1406:BC027072	UTSW	17	71749161	missense	probably benign	0.18
R1530:BC027072	UTSW	17	71749478	missense	probably benign	0.01
R1723:BC027072	UTSW	17	71750378	missense	probably damaging	1.00
R1941:BC027072	UTSW	17	71752068	missense	probably damaging	1.00
R2179:BC027072	UTSW	17	71752526	missense	probably damaging	1.00
R2232:BC027072	UTSW	17	71749284	missense	probably benign	0.00
R2519:BC027072	UTSW	17	71751647	missense	probably damaging	1.00
R2997:BC027072	UTSW	17	71744711	critical splice acceptor site	probably benign
R3899:BC027072	UTSW	17	71750160	missense	probably benign	0.00
R4890:BC027072	UTSW	17	71752311	missense	possibly damaging	0.50
R4898:BC027072	UTSW	17	71751071	missense	probably damaging	1.00
R5347:BC027072	UTSW	17	71749935	missense	probably benign	0.00
R5436:BC027072	UTSW	17	71750842	missense	probably damaging	1.00
R5527:BC027072	UTSW	17	71752640	missense	probably damaging	1.00
R5556:BC027072	UTSW	17	71752425	missense	possibly damaging	0.81
R5625:BC027072	UTSW	17	71751326	missense	probably damaging	1.00
R5707:BC027072	UTSW	17	71751572	missense	possibly damaging	0.90
R5932:BC027072	UTSW	17	71751753	missense	probably damaging	1.00
R6043:BC027072	UTSW	17	71750042	missense	probably damaging	1.00
R6314:BC027072	UTSW	17	71752457	missense	probably benign	0.04
R6513:BC027072	UTSW	17	71744706	missense	probably damaging	1.00
R7575:BC027072	UTSW	17	71750855	missense	probably damaging	1.00
R7638:BC027072	UTSW	17	71750885	missense	probably damaging	1.00
R7848:BC027072	UTSW	17	71749193	missense	probably benign	0.04
R8317:BC027072	UTSW	17	71749202	missense	probably benign	0.10
R8530:BC027072	UTSW	17	71752106	missense	probably damaging	1.00
R8831:BC027072	UTSW	17	71752310	missense	probably benign	0.01
R8854:BC027072	UTSW	17	71749331	missense	probably benign
R8941:BC027072	UTSW	17	71752142	missense	probably benign	0.06
X0035:BC027072	UTSW	17	71744711	critical splice acceptor site	probably benign
Z1177:BC027072	UTSW	17	71750403	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCGTGGTCTTGAAGGTAGG -3'
(R):5'- CTTTGCAGCAGAACTTGGAG -3'

Sequencing Primer
(F):5'- CAGGTCGGTGCTGCTAAG -3'
(R):5'- CTTTGCAGCAGAACTTGGAGAATGG -3'

Posted On

2021-03-08