Mutagenetix > Incidental Mutation

Incidental Mutation 'R7686:Lca5'

593103

Institutional Source

Beutler Lab

Gene Symbol

Lca5

Ensembl Gene

ENSMUSG00000032258

Gene Name

Leber congenital amaurosis 5 (human)

Synonyms

4930431B11Rik, ORF64, 5730406O13Rik

MMRRC Submission

045751-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.454) question?

Stock #

R7686 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83272346-83323180 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83277292 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 684 (N684S)

Ref Sequence

ENSEMBL: ENSMUSP00000034791 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034791] [ENSMUST00000034793] [ENSMUST00000190514]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034791
AA Change: N684S

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

SMART Domains

Protein: ENSMUSP00000034791
Gene: ENSMUSG00000032258
AA Change: N684S

Domain	Start	End	E-Value	Type
low complexity region	25	40	N/A	INTRINSIC
Pfam:Lebercilin	103	295	2.6e-66	PFAM
low complexity region	306	315	N/A	INTRINSIC
low complexity region	617	627	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000034793

SMART Domains

Protein: ENSMUSP00000034793
Gene: ENSMUSG00000032258

Domain	Start	End	E-Value	Type
low complexity region	25	40	N/A	INTRINSIC
Pfam:Lebercilin	102	295	4.8e-71	PFAM
low complexity region	306	315	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190514

SMART Domains

Protein: ENSMUSP00000140753
Gene: ENSMUSG00000032258

Domain	Start	End	E-Value	Type
low complexity region	25	40	N/A	INTRINSIC
Pfam:Lebercilin	102	295	5.8e-71	PFAM
low complexity region	306	315	N/A	INTRINSIC

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (78/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit retinal patches of depigmentation, lack rod and cone ERG responses to light stimuli, and show loss of ciliary intraflagellar transport function in photoreceptors leading to failure of outer segment formation and photoreceptor degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	A	T	1: 66,887,557 (GRCm39)		probably null	Het
Adgrg5	A	T	8: 95,664,430 (GRCm39)	I347F		Het
Agmo	T	C	12: 37,469,973 (GRCm39)	V431A	probably benign	Het
Arl14epl	A	G	18: 47,065,523 (GRCm39)	D96G	probably damaging	Het
Asxl1	C	T	2: 153,233,534 (GRCm39)	S113F	probably damaging	Het
Axdnd1	A	T	1: 156,223,034 (GRCm39)	C81*	probably null	Het
Bloc1s3	C	T	7: 19,241,531 (GRCm39)		probably benign	Het
Bmper	C	G	9: 23,310,840 (GRCm39)	L425V	probably benign	Het
Bok	A	T	1: 93,622,822 (GRCm39)	T194S	probably benign	Het
Bpifa5	A	T	2: 154,007,432 (GRCm39)	I125L	probably benign	Het
Brcc3dc	T	C	10: 108,535,301 (GRCm39)	E218G	probably damaging	Het
Brd10	A	T	19: 29,694,870 (GRCm39)	I1541N	probably benign	Het
Brpf3	T	C	17: 29,025,908 (GRCm39)	I327T	probably damaging	Het
Camk1	T	A	6: 113,313,158 (GRCm39)	N297Y	probably damaging	Het
Catsper2	C	T	2: 121,227,937 (GRCm39)		probably null	Het
Ccdc171	A	T	4: 83,575,556 (GRCm39)	N480I	unknown	Het
Cd83	A	G	13: 43,938,848 (GRCm39)	M22V	probably benign	Het
Col1a2	A	G	6: 4,518,964 (GRCm39)	D243G	unknown	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Ctla4	A	T	1: 60,951,752 (GRCm39)	T94S	probably benign	Het
Cyp2b19	T	C	7: 26,461,768 (GRCm39)	F196S	probably damaging	Het
Dhx32	A	T	7: 133,361,430 (GRCm39)	M1K	probably null	Het
Epha3	T	A	16: 63,593,651 (GRCm39)	I146F	probably damaging	Het
Erbb2	T	A	11: 98,326,399 (GRCm39)	S1008T	probably benign	Het
Esp34	A	G	17: 38,870,534 (GRCm39)	R143G	possibly damaging	Het
Fam135b	T	C	15: 71,335,233 (GRCm39)	K654E	possibly damaging	Het
Fgr	T	C	4: 132,725,324 (GRCm39)	M343T	probably benign	Het
Fibcd1	T	G	2: 31,723,880 (GRCm39)	D253A	probably damaging	Het
Foxk1	C	T	5: 142,387,625 (GRCm39)	S116L	probably damaging	Het
Gimap8	G	A	6: 48,633,006 (GRCm39)	G275E	probably damaging	Het
Glp1r	T	C	17: 31,144,633 (GRCm39)	Y269H	probably damaging	Het
H2ac20	T	C	3: 96,127,886 (GRCm39)	E92G	probably damaging	Het
Lbr	A	G	1: 181,645,086 (GRCm39)	F522S	probably damaging	Het
Leng8	C	A	7: 4,146,504 (GRCm39)	S372*	probably null	Het
Lrp2	A	G	2: 69,319,581 (GRCm39)	Y1981H	probably damaging	Het
Lrrc37a	T	G	11: 103,389,062 (GRCm39)	Q2121P	unknown	Het
Lrrn2	A	G	1: 132,866,332 (GRCm39)	T466A	probably benign	Het
Map3k19	A	T	1: 127,749,985 (GRCm39)	L1122*	probably null	Het
Mfsd6	T	C	1: 52,701,554 (GRCm39)	E632G	probably benign	Het
Mfsd6l	C	T	11: 68,448,052 (GRCm39)	A301V	probably benign	Het
Mro	A	T	18: 74,010,510 (GRCm39)	M197L	probably benign	Het
Ncam2	A	T	16: 81,418,342 (GRCm39)	E799V	probably damaging	Het
Nek9	A	T	12: 85,350,433 (GRCm39)	D880E	probably benign	Het
Ntng1	T	A	3: 109,842,330 (GRCm39)	I148L	possibly damaging	Het
Or1ad6	A	G	11: 50,860,582 (GRCm39)	T246A	possibly damaging	Het
Or5ac23	T	A	16: 59,149,379 (GRCm39)	R164S	probably damaging	Het
P2ry13	C	T	3: 59,117,439 (GRCm39)	G113D	probably damaging	Het
Pnpt1	A	T	11: 29,107,070 (GRCm39)	T687S	probably damaging	Het
Pou2af1	T	C	9: 51,149,486 (GRCm39)	Y193H	probably damaging	Het
Ppp1r14c	T	A	10: 3,413,396 (GRCm39)	I143N	probably damaging	Het
Ppp1r16a	A	T	15: 76,578,783 (GRCm39)	S496C	probably benign	Het
Prdm12	G	A	2: 31,530,229 (GRCm39)	R40Q	probably damaging	Het
Rabepk	C	T	2: 34,669,308 (GRCm39)	G362S	probably damaging	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rnf26rt	A	T	6: 76,474,013 (GRCm39)	L201H	probably damaging	Het
Robo2	C	A	16: 73,755,293 (GRCm39)	V743F	probably damaging	Het
Scart1	T	A	7: 139,802,116 (GRCm39)	C148*	probably null	Het
Scart2	A	G	7: 139,828,965 (GRCm39)	N208S	probably benign	Het
Smg1	A	T	7: 117,767,081 (GRCm39)	Y1804N	unknown	Het
Ssh2	A	G	11: 77,316,150 (GRCm39)	E257G	possibly damaging	Het
Stoml3	T	C	3: 53,410,589 (GRCm39)	I101T	probably damaging	Het
Stxbp5	T	C	10: 9,645,154 (GRCm39)	D950G	probably damaging	Het
Syt10	T	C	15: 89,698,360 (GRCm39)	D328G	probably damaging	Het
Taf3	T	C	2: 9,956,299 (GRCm39)	K623E	probably damaging	Het
Tas2r134	T	A	2: 51,518,255 (GRCm39)	S245T	possibly damaging	Het
Tfap2b	G	C	1: 19,284,511 (GRCm39)	D140H	probably damaging	Het
Tjp3	C	T	10: 81,113,885 (GRCm39)	V458I	probably benign	Het
Tnpo3	G	T	6: 29,562,899 (GRCm39)	S606*	probably null	Het
Tram1l1	T	C	3: 124,114,959 (GRCm39)	F40L	probably benign	Het
Ttc29	A	T	8: 79,119,759 (GRCm39)	T464S	probably benign	Het
Txndc9	A	T	1: 38,026,849 (GRCm39)	M192K	probably benign	Het
Urb2	C	A	8: 124,771,911 (GRCm39)	A1444E	probably benign	Het
Uty	G	A	Y: 1,158,075 (GRCm39)	T657I	possibly damaging	Het
Vmn1r1	A	T	1: 181,985,590 (GRCm39)	V25D	probably damaging	Het
Vmn2r65	A	T	7: 84,589,744 (GRCm39)	I724N	probably damaging	Het
Xkr6	C	T	14: 63,844,295 (GRCm39)	T106M	possibly damaging	Het
Zc3h18	G	A	8: 123,140,615 (GRCm39)	R850Q	unknown	Het
Zfp341	A	G	2: 154,466,781 (GRCm39)	E50G	probably damaging	Het
Zfp62	C	A	11: 49,107,985 (GRCm39)	A692E	probably damaging	Het

Other mutations in Lca5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01073:Lca5	APN	9	83,277,528 (GRCm39)	missense	probably damaging	0.98
IGL01349:Lca5	APN	9	83,308,670 (GRCm39)	missense	probably damaging	1.00
IGL01918:Lca5	APN	9	83,305,201 (GRCm39)	missense	probably damaging	1.00
IGL02035:Lca5	APN	9	83,305,365 (GRCm39)	missense	probably damaging	1.00
IGL02276:Lca5	APN	9	83,280,638 (GRCm39)	missense	possibly damaging	0.79
IGL02425:Lca5	APN	9	83,281,774 (GRCm39)	missense	probably damaging	1.00
IGL02481:Lca5	APN	9	83,305,170 (GRCm39)	missense	probably damaging	1.00
IGL02483:Lca5	APN	9	83,305,170 (GRCm39)	missense	probably damaging	1.00
R0465:Lca5	UTSW	9	83,277,920 (GRCm39)	nonsense	probably null
R0610:Lca5	UTSW	9	83,281,792 (GRCm39)	missense	probably benign	0.24
R0811:Lca5	UTSW	9	83,281,806 (GRCm39)	missense	possibly damaging	0.95
R0812:Lca5	UTSW	9	83,281,806 (GRCm39)	missense	possibly damaging	0.95
R0968:Lca5	UTSW	9	83,305,222 (GRCm39)	missense	probably benign	0.01
R1891:Lca5	UTSW	9	83,277,661 (GRCm39)	missense	probably damaging	1.00
R5223:Lca5	UTSW	9	83,280,666 (GRCm39)	missense	probably benign	0.00
R5235:Lca5	UTSW	9	83,305,107 (GRCm39)	nonsense	probably null
R5260:Lca5	UTSW	9	83,305,276 (GRCm39)	missense	probably damaging	0.98
R5531:Lca5	UTSW	9	83,280,648 (GRCm39)	missense	probably benign	0.00
R5558:Lca5	UTSW	9	83,283,796 (GRCm39)	missense	probably damaging	0.99
R5688:Lca5	UTSW	9	83,280,619 (GRCm39)	missense	probably benign	0.01
R5886:Lca5	UTSW	9	83,281,734 (GRCm39)	missense	probably benign	0.31
R6426:Lca5	UTSW	9	83,277,707 (GRCm39)	nonsense	probably null
R7108:Lca5	UTSW	9	83,305,222 (GRCm39)	missense	probably benign	0.25
R7151:Lca5	UTSW	9	83,280,693 (GRCm39)	missense	probably benign	0.20
R7314:Lca5	UTSW	9	83,277,563 (GRCm39)	missense	possibly damaging	0.86
R7378:Lca5	UTSW	9	83,277,583 (GRCm39)	missense	probably benign	0.00
R7468:Lca5	UTSW	9	83,305,509 (GRCm39)	missense	probably damaging	0.99
R8874:Lca5	UTSW	9	83,277,503 (GRCm39)	missense	probably damaging	1.00
R8934:Lca5	UTSW	9	83,273,909 (GRCm39)	utr 3 prime	probably benign
R8987:Lca5	UTSW	9	83,283,796 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTAAGGCTACTTTACCATTGAAAG -3'
(R):5'- AAAGGCGACTCTGATGGAGC -3'

Sequencing Primer
(F):5'- CTCCAGTCAGTCATCTGA -3'
(R):5'- GACTCTGATGGAGCAGCTG -3'

Posted On

2019-11-12