Mutagenetix > Incidental Mutation

Incidental Mutation 'R5223:Lca5'

402438

Institutional Source

Beutler Lab

Gene Symbol

Lca5

Ensembl Gene

ENSMUSG00000032258

Gene Name

Leber congenital amaurosis 5 (human)

Synonyms

4930431B11Rik, ORF64, 5730406O13Rik

MMRRC Submission

042796-MU

Accession Numbers

Essential gene?

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

Stock #

R5223 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83272346-83323180 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83280666 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 378 (H378L)

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: H378L

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

SMART Domains

Protein: ENSMUSP00000034791
Gene: ENSMUSG00000032258
AA Change: H378L

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
AA Change: H378L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034793
Gene: ENSMUSG00000032258
AA Change: H378L

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
AA Change: H378L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140753
Gene: ENSMUSG00000032258
AA Change: H378L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191225

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.2%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 119,904,278 (GRCm39)	V273M	possibly damaging	Het
Acin1	CCGC	CC	14: 54,880,398 (GRCm39)		probably null	Het
Acvr1b	T	A	15: 101,091,857 (GRCm39)	C46S	probably damaging	Het
Ahi1	A	T	10: 20,846,818 (GRCm39)	H416L	possibly damaging	Het
Aspm	T	A	1: 139,406,072 (GRCm39)	L1653Q	probably damaging	Het
Cacna1a	G	A	8: 85,313,824 (GRCm39)	V1533M	possibly damaging	Het
Ccdc33	C	T	9: 57,940,267 (GRCm39)	E502K	possibly damaging	Het
Ctnnd1	C	T	2: 84,447,133 (GRCm39)	V371M	probably damaging	Het
Cyp2a12	A	T	7: 26,735,888 (GRCm39)		probably null	Het
Dnai4	T	A	4: 102,906,600 (GRCm39)	S738C	possibly damaging	Het
Ep400	A	G	5: 110,816,496 (GRCm39)	V2675A	probably damaging	Het
Foxh1	T	A	15: 76,552,929 (GRCm39)		probably null	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gpnmb	C	T	6: 49,033,139 (GRCm39)	T539M	probably benign	Het
Hdac1-ps	A	G	17: 78,799,867 (GRCm39)	E286G	probably benign	Het
Hspa9	A	G	18: 35,085,724 (GRCm39)		probably null	Het
Hspg2	T	C	4: 137,271,225 (GRCm39)	L2454P	probably damaging	Het
Ift140	T	A	17: 25,254,786 (GRCm39)	I422N	probably benign	Het
Igkv6-32	T	C	6: 70,051,207 (GRCm39)	S50G	probably benign	Het
Il23r	T	A	6: 67,463,154 (GRCm39)	Y113F	probably benign	Het
Kcnt1	A	G	2: 25,793,434 (GRCm39)	D636G	probably benign	Het
Klhl41	G	A	2: 69,510,171 (GRCm39)	W569*	probably null	Het
Klra4	T	A	6: 130,039,110 (GRCm39)	D94V	probably damaging	Het
Lhx8	T	A	3: 154,027,281 (GRCm39)	T254S	probably damaging	Het
Lrch3	C	T	16: 32,734,767 (GRCm39)	R86W	probably damaging	Het
Lrp2	T	A	2: 69,354,397 (GRCm39)	N477I	probably damaging	Het
Man2a1	T	A	17: 65,019,266 (GRCm39)	I710K	probably benign	Het
Ncor1	A	T	11: 62,229,826 (GRCm39)	Y881N	probably damaging	Het
Nhsl1	T	A	10: 18,402,074 (GRCm39)	V1100E	probably damaging	Het
Oprk1	T	C	1: 5,659,519 (GRCm39)	V83A	probably benign	Het
Or4p8	T	C	2: 88,727,678 (GRCm39)	T88A	probably benign	Het
Or5p62	A	G	7: 107,771,915 (GRCm39)	V12A	probably benign	Het
Or7g35	T	C	9: 19,496,322 (GRCm39)	V163A	probably benign	Het
Pacs1	C	T	19: 5,195,169 (GRCm39)	V472I	probably benign	Het
Pard3b	T	C	1: 62,383,272 (GRCm39)	Y789H	probably damaging	Het
Pcdha2	T	C	18: 37,073,844 (GRCm39)	Y492H	probably damaging	Het
Pcnt	T	C	10: 76,216,106 (GRCm39)	N2261D	probably damaging	Het
Pex5l	A	T	3: 33,012,945 (GRCm39)	S15T	probably damaging	Het
Plekhg4	A	G	8: 106,105,581 (GRCm39)	N682S	probably benign	Het
Poc5	A	T	13: 96,539,463 (GRCm39)	M335L	probably benign	Het
Polr1a	C	T	6: 71,944,891 (GRCm39)	R1316W	possibly damaging	Het
Pp2d1	T	C	17: 53,814,873 (GRCm39)	H617R	probably benign	Het
Pramel24	T	A	4: 143,454,591 (GRCm39)	S296R	probably benign	Het
Prpsap1	T	C	11: 116,378,974 (GRCm39)	K65E	probably benign	Het
Ptgfrn	T	C	3: 100,952,909 (GRCm39)	E775G	probably benign	Het
Ptprc	T	A	1: 138,045,600 (GRCm39)	I87F	probably benign	Het
Rbbp8	C	A	18: 11,854,747 (GRCm39)	A324E	probably benign	Het
Rfx6	G	T	10: 51,554,092 (GRCm39)	G63*	probably null	Het
Rpl37a	T	C	1: 72,751,308 (GRCm39)	M47T	probably benign	Het
Samm50	T	G	15: 84,084,831 (GRCm39)	N187K	probably benign	Het
Skic2	A	G	17: 35,064,142 (GRCm39)		probably null	Het
Slamf9	T	C	1: 172,303,799 (GRCm39)	I48T	possibly damaging	Het
Slc2a12	A	G	10: 22,577,931 (GRCm39)	K576E	probably damaging	Het
Slc4a10	G	A	2: 62,083,710 (GRCm39)	G388S	probably damaging	Het
Smtn	G	T	11: 3,479,530 (GRCm39)	N512K	probably benign	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Sspo	A	G	6: 48,455,258 (GRCm39)	Y3040C	probably damaging	Het
Stat1	T	A	1: 52,183,401 (GRCm39)	V389E	probably damaging	Het
Sult5a1	A	T	8: 123,872,161 (GRCm39)	M227K	probably damaging	Het
Thsd4	T	C	9: 59,964,325 (GRCm39)	D389G	probably damaging	Het
Tnxb	T	C	17: 34,923,052 (GRCm39)	V2545A	possibly damaging	Het
Tpo	T	A	12: 30,142,589 (GRCm39)	I712F	probably damaging	Het
Trim62	T	C	4: 128,803,204 (GRCm39)	V418A	probably damaging	Het
Uqcrc1	C	A	9: 108,771,224 (GRCm39)	H95N	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Vmn2r66	T	C	7: 84,657,093 (GRCm39)	D104G	probably benign	Het
Wdr26	T	C	1: 181,015,251 (GRCm39)	I371V	probably benign	Het
Zfp273	T	G	13: 67,974,298 (GRCm39)	C475W	probably damaging	Het
Zfp738	G	T	13: 67,821,182 (GRCm39)	T55K	probably damaging	Het
Zmym2	A	G	14: 57,183,971 (GRCm39)	I978V	probably benign	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
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
R7686:Lca5	UTSW	9	83,277,292 (GRCm39)	missense	probably benign	0.00
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'- TCAGCTGTTCAGACTCCCTG -3'
(R):5'- AGCTTACCTCTTGACAGTTTCATG -3'

Sequencing Primer
(F):5'- TCCCTCAGCCACTGCGG -3'
(R):5'- TGGATGAGCCACTGAGTT -3'

Posted On

2016-07-22