Mutagenetix > Incidental Mutation

Incidental Mutation 'R1891:Lca5'

211505

Institutional Source

Beutler Lab

Gene Symbol

Lca5

Ensembl Gene

ENSMUSG00000032258

Gene Name

Leber congenital amaurosis 5 (human)

Synonyms

4930431B11Rik, ORF64, 5730406O13Rik

MMRRC Submission

039911-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.404) question?

Stock #

R1891 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83272346-83323180 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83277661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 561 (Y561C)

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 damaging
Transcript: ENSMUST00000034791
AA Change: Y561C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034791
Gene: ENSMUSG00000032258
AA Change: Y561C

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.7%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,840,874 (GRCm39)	I921T	possibly damaging	Het
Abca8a	T	C	11: 109,982,433 (GRCm39)	K3R	probably benign	Het
Adgrl3	A	T	5: 81,659,891 (GRCm39)	D152V	probably damaging	Het
Akap6	A	T	12: 53,188,958 (GRCm39)	D2124V	possibly damaging	Het
Akt1	A	G	12: 112,626,009 (GRCm39)	F88L	probably damaging	Het
Ankrd24	T	C	10: 81,479,342 (GRCm39)		probably benign	Het
Arid4b	T	A	13: 14,310,821 (GRCm39)	N141K	possibly damaging	Het
Cacna1c	C	A	6: 118,753,480 (GRCm39)	D219Y	probably damaging	Het
Ccdc113	A	G	8: 96,267,544 (GRCm39)	K170E	probably damaging	Het
Ceacam9	A	G	7: 16,457,880 (GRCm39)	E136G	probably damaging	Het
Cfap43	A	G	19: 47,802,380 (GRCm39)	L333P	probably damaging	Het
Chl1	A	G	6: 103,691,544 (GRCm39)	D1062G	possibly damaging	Het
Cimip4	T	A	15: 78,262,952 (GRCm39)	D234V	probably damaging	Het
Ckb	TCCACCACCA	TCCACCA	12: 111,636,079 (GRCm39)		probably benign	Het
Clpp	T	A	17: 57,298,307 (GRCm39)	V91E	probably damaging	Het
Cndp1	A	T	18: 84,637,758 (GRCm39)	H325Q	probably null	Het
Cngb3	A	G	4: 19,366,446 (GRCm39)	N169S	probably benign	Het
Cog6	A	C	3: 52,890,601 (GRCm39)	I613R	probably benign	Het
Creb3l1	A	G	2: 91,817,385 (GRCm39)	L376P	probably damaging	Het
Cry2	A	T	2: 92,243,985 (GRCm39)	V396D	possibly damaging	Het
Cxxc5	A	G	18: 35,992,318 (GRCm39)	M240V	possibly damaging	Het
Defa28	G	A	8: 22,073,801 (GRCm39)	C68Y	probably damaging	Het
Ecd	A	G	14: 20,388,227 (GRCm39)	I187T	probably damaging	Het
Erg28	A	G	12: 85,862,962 (GRCm39)	S117P	probably benign	Het
Ergic2	A	T	6: 148,084,577 (GRCm39)	C319S	probably damaging	Het
Ess2	C	T	16: 17,725,644 (GRCm39)	W183*	probably null	Het
Evc2	A	C	5: 37,549,423 (GRCm39)	D773A	probably damaging	Het
Fam151b	T	A	13: 92,586,678 (GRCm39)	T252S	probably benign	Het
Fbxo28	A	T	1: 182,145,389 (GRCm39)	M233K	probably benign	Het
Fbxw26	T	G	9: 109,551,232 (GRCm39)	D355A	probably benign	Het
Gm4884	G	C	7: 40,692,539 (GRCm39)	E169D	possibly damaging	Het
Hk2	C	T	6: 82,726,264 (GRCm39)	R94Q	probably benign	Het
Hps4	G	A	5: 112,517,422 (GRCm39)		probably null	Het
Hspg2	T	A	4: 137,292,801 (GRCm39)	D4126E	probably damaging	Het
Kif13a	T	C	13: 47,082,695 (GRCm39)	E48G	possibly damaging	Het
Krt31	T	A	11: 99,938,634 (GRCm39)	N320Y	probably damaging	Het
Lrrk1	G	A	7: 65,929,048 (GRCm39)	L1195F	probably damaging	Het
Ly6g6d	A	C	17: 35,293,269 (GRCm39)	Y25*	probably null	Het
Map3k13	T	G	16: 21,729,836 (GRCm39)	M489R	probably damaging	Het
Mcm6	C	T	1: 128,263,547 (GRCm39)	R658H	probably damaging	Het
Mecp2	C	T	X: 73,080,781 (GRCm39)	A79T	probably damaging	Het
Mitf	A	G	6: 97,918,237 (GRCm39)	T94A	probably benign	Het
Mpo	T	A	11: 87,692,106 (GRCm39)	L513*	probably null	Het
Mst1r	T	A	9: 107,790,661 (GRCm39)	N722K	probably damaging	Het
Mthfd1l	T	A	10: 3,982,284 (GRCm39)	L497*	probably null	Het
Mtus1	C	T	8: 41,537,362 (GRCm39)	S118N	probably damaging	Het
Mybbp1a	C	T	11: 72,336,863 (GRCm39)	T565I	probably benign	Het
Naip2	C	T	13: 100,291,395 (GRCm39)	R1181K	probably benign	Het
Nbas	T	C	12: 13,440,973 (GRCm39)	M1101T	possibly damaging	Het
Odad3	G	T	9: 21,906,677 (GRCm39)		probably null	Het
Or2y1b	T	C	11: 49,208,684 (GRCm39)	F104L	probably benign	Het
Or4f60	A	T	2: 111,902,739 (GRCm39)	L63Q	probably damaging	Het
Or52l1	A	T	7: 104,829,754 (GRCm39)	Y270*	probably null	Het
Or5ae1	T	A	7: 84,565,461 (GRCm39)	V158D	possibly damaging	Het
Or6c33	T	C	10: 129,853,439 (GRCm39)	S70P	probably damaging	Het
Or7a40	T	A	16: 16,491,441 (GRCm39)	I135F	probably damaging	Het
Or7g20	T	C	9: 18,947,274 (GRCm39)	L285S	probably damaging	Het
Or8b12b	T	A	9: 37,684,163 (GRCm39)	D69E	possibly damaging	Het
Oxct2b	A	G	4: 123,010,938 (GRCm39)	D286G	probably benign	Het
Pax5	A	T	4: 44,691,859 (GRCm39)	V129E	probably damaging	Het
Pax7	G	A	4: 139,511,937 (GRCm39)	R215C	probably damaging	Het
Pcdh7	A	T	5: 57,878,217 (GRCm39)	I591F	probably damaging	Het
Pcdhb22	T	C	18: 37,652,357 (GRCm39)	V275A	probably damaging	Het
Pkp3	C	T	7: 140,663,969 (GRCm39)		probably null	Het
Plekhb1	A	G	7: 100,304,599 (GRCm39)	L35P	probably damaging	Het
Pole	T	A	5: 110,480,408 (GRCm39)	F1993Y	probably damaging	Het
Pramel28	A	T	4: 143,693,235 (GRCm39)	V81E	probably damaging	Het
Prdx1	T	C	4: 116,556,451 (GRCm39)	*200R	probably null	Het
Prkdc	C	A	16: 15,543,300 (GRCm39)	T1777N	probably benign	Het
Prss59	A	T	6: 40,902,967 (GRCm39)	M135K	possibly damaging	Het
Ptpn14	G	A	1: 189,530,850 (GRCm39)	V106M	probably damaging	Het
Ptpn23	T	C	9: 110,222,868 (GRCm39)	E63G	possibly damaging	Het
Qser1	A	C	2: 104,620,444 (GRCm39)	S123A	probably benign	Het
Rbm11	A	G	16: 75,397,675 (GRCm39)	N202D	possibly damaging	Het
Robo3	T	A	9: 37,339,351 (GRCm39)	Y212F	probably damaging	Het
Sde2	G	A	1: 180,687,573 (GRCm39)	S153N	probably benign	Het
Serpinb1c	T	A	13: 33,068,235 (GRCm39)	D179V	probably benign	Het
Skint6	T	C	4: 112,703,893 (GRCm39)	D994G	possibly damaging	Het
Sorbs1	A	G	19: 40,381,904 (GRCm39)	S46P	probably damaging	Het
St8sia4	T	C	1: 95,519,433 (GRCm39)	T352A	possibly damaging	Het
Stab1	C	A	14: 30,863,287 (GRCm39)	R2133L	probably benign	Het
Stk11ip	T	C	1: 75,509,060 (GRCm39)	C730R	probably benign	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tle4	A	T	19: 14,522,150 (GRCm39)		probably null	Het
Tmem200a	T	A	10: 25,869,970 (GRCm39)	N100Y	probably damaging	Het
Tnnt2	A	T	1: 135,768,597 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,706,302 (GRCm39)		probably benign	Het
Ubac1	A	G	2: 25,904,974 (GRCm39)	V88A	probably benign	Het
Urgcp	T	C	11: 5,666,910 (GRCm39)	E476G	probably benign	Het
Vmn1r201	G	A	13: 22,659,425 (GRCm39)	R213H	probably benign	Het
Vmn2r84	C	T	10: 130,221,938 (GRCm39)	V761M	possibly damaging	Het
Vwde	A	T	6: 13,187,454 (GRCm39)	Y678N	probably damaging	Het
Wnk2	C	A	13: 49,206,200 (GRCm39)	E1865*	probably null	Het
Zc3h3	A	C	15: 75,628,780 (GRCm39)	M838R	possibly damaging	Het
Zfp959	T	A	17: 56,204,604 (GRCm39)	C211S	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
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
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'- TGCTCTTGGAGGAGACACTG -3'
(R):5'- GAATCCAAGCTGCACTCTCCAG -3'

Sequencing Primer
(F):5'- AGACACTGGTGTTGCTGGC -3'
(R):5'- GCTGCACTCTCCAGACAGAAG -3'

Posted On

2014-06-30