Mutagenetix > Incidental Mutation

Incidental Mutation 'R0812:Lca5'

78482

Institutional Source

Beutler Lab

Gene Symbol

Lca5

Ensembl Gene

ENSMUSG00000032258

Gene Name

Leber congenital amaurosis 5 (human)

Synonyms

4930431B11Rik, ORF64, 5730406O13Rik

MMRRC Submission

038992-MU

Accession Numbers

Essential gene?

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

Stock #

R0812 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83272346-83323180 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83281806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 326 (D326G)

Ref Sequence

ENSEMBL: ENSMUSP00000034791 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034791
AA Change: D326G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034791
Gene: ENSMUSG00000032258
AA Change: D326G

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

possibly damaging
Transcript: ENSMUST00000034793
AA Change: D326G

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034793
Gene: ENSMUSG00000032258
AA Change: D326G

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

possibly damaging
Transcript: ENSMUST00000190514
AA Change: D326G

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140753
Gene: ENSMUSG00000032258
AA Change: D326G

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

Meta Mutation Damage Score

0.0924

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 96.8%
20x: 91.7%

Validation Efficiency

96% (52/54)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	C	5: 8,763,229 (GRCm39)	S586P	probably damaging	Het
Abcc3	G	A	11: 94,266,028 (GRCm39)		probably benign	Het
Ap5z1	G	A	5: 142,461,546 (GRCm39)	R583H	probably benign	Het
Arrb1	G	T	7: 99,247,708 (GRCm39)	V346L	probably benign	Het
Atrnl1	T	A	19: 57,661,573 (GRCm39)	F518I	probably benign	Het
Bank1	T	A	3: 135,799,127 (GRCm39)	I405F	probably damaging	Het
Cacna1c	A	G	6: 118,607,224 (GRCm39)	C1227R	probably benign	Het
Cacna1h	A	G	17: 25,607,602 (GRCm39)	L905P	probably damaging	Het
Cc2d1a	A	G	8: 84,860,465 (GRCm39)	Y826H	probably benign	Het
Cenpo	A	G	12: 4,266,643 (GRCm39)	V155A	probably benign	Het
Cnmd	A	G	14: 79,898,863 (GRCm39)	F63S	probably damaging	Het
Cnn3	G	A	3: 121,248,600 (GRCm39)	G72D	probably damaging	Het
Cox10	A	G	11: 63,962,539 (GRCm39)	S101P	probably benign	Het
Ctdsp1	T	C	1: 74,433,806 (GRCm39)	V129A	probably damaging	Het
Cyp2d34	A	T	15: 82,502,807 (GRCm39)	S140T	probably benign	Het
Dennd5a	G	A	7: 109,532,820 (GRCm39)	H317Y	possibly damaging	Het
Dnaaf9	A	G	2: 130,555,334 (GRCm39)	F858S	probably damaging	Het
Eef2	C	CN	10: 81,014,603 (GRCm39)		probably null	Het
Enox1	T	A	14: 77,819,876 (GRCm39)	D210E	probably damaging	Het
Fam171a1	A	G	2: 3,198,464 (GRCm39)	N190S	probably damaging	Het
Fat2	T	A	11: 55,144,459 (GRCm39)	K4138N	possibly damaging	Het
Fat4	A	T	3: 39,011,623 (GRCm39)	D2241V	probably damaging	Het
Fbn1	C	T	2: 125,245,090 (GRCm39)	V266I	possibly damaging	Het
Foxf2	T	A	13: 31,811,188 (GRCm39)	Y376N	probably damaging	Het
Fras1	T	A	5: 96,900,857 (GRCm39)	S3025R	probably benign	Het
Gba1	T	C	3: 89,111,307 (GRCm39)	I24T	probably benign	Het
Gdpd5	A	G	7: 99,087,540 (GRCm39)	D68G	probably damaging	Het
Grid1	G	A	14: 34,544,576 (GRCm39)	S49N	probably benign	Het
Grtp1	T	C	8: 13,229,639 (GRCm39)	T250A	possibly damaging	Het
Gucy1b1	T	C	3: 81,945,295 (GRCm39)	N448D	probably benign	Het
H2-Ob	A	G	17: 34,463,100 (GRCm39)		probably benign	Het
Hcn4	A	G	9: 58,730,795 (GRCm39)	M1V	probably null	Het
Hmcn2	G	A	2: 31,310,383 (GRCm39)	A3326T	probably damaging	Het
Impg2	TACCACCACCACCACCACCACCACCA	TACCACCACCACCACCACCACCA	16: 56,078,302 (GRCm39)		probably benign	Het
Ippk	C	A	13: 49,596,947 (GRCm39)	Q254K	probably damaging	Het
Itga2	A	T	13: 115,007,150 (GRCm39)	L393I	possibly damaging	Het
Kcna10	A	T	3: 107,102,575 (GRCm39)	E402V	possibly damaging	Het
Kcnab1	G	A	3: 65,205,141 (GRCm39)	D119N	probably damaging	Het
Kcnip4	T	A	5: 48,567,202 (GRCm39)	T122S	probably benign	Het
Kcnma1	G	A	14: 23,350,086 (GRCm39)	P1151L	probably damaging	Het
Klhl22	T	A	16: 17,610,453 (GRCm39)	M568K	probably benign	Het
Krt6a	C	T	15: 101,601,183 (GRCm39)	V257M	probably damaging	Het
Ksr2	A	C	5: 117,693,290 (GRCm39)	H246P	probably damaging	Het
Lcp1	A	G	14: 75,451,928 (GRCm39)	E393G	probably benign	Het
Leo1	G	A	9: 75,352,831 (GRCm39)	E125K	probably benign	Het
Lipt1	T	A	1: 37,914,382 (GRCm39)	V146E	probably damaging	Het
Mael	A	T	1: 166,062,968 (GRCm39)		probably null	Het
Mga	C	T	2: 119,778,442 (GRCm39)	L1996F	probably damaging	Het
Mllt6	A	G	11: 97,569,387 (GRCm39)	N913S	probably damaging	Het
Mphosph9	A	C	5: 124,436,822 (GRCm39)	D507E	probably damaging	Het
Mvp	G	A	7: 126,586,728 (GRCm39)	A801V	probably benign	Het
Ndrg2	A	G	14: 52,146,119 (GRCm39)		probably benign	Het
Neb	T	C	2: 52,182,707 (GRCm39)	D1053G	possibly damaging	Het
Nubp1	C	A	16: 10,231,585 (GRCm39)	L79I	probably benign	Het
Or1e1f	G	A	11: 73,856,246 (GRCm39)	E271K	probably benign	Het
Or1o2	A	C	17: 37,543,223 (GRCm39)	L13V	probably benign	Het
Or8d2	G	A	9: 38,759,805 (GRCm39)	V132I	probably benign	Het
Pnpla8	G	A	12: 44,330,188 (GRCm39)	V29M	probably benign	Het
Psmb2	T	A	4: 126,601,350 (GRCm39)	I151N	possibly damaging	Het
Ptgs2	C	T	1: 149,977,105 (GRCm39)	T104I	probably benign	Het
Ptpro	A	G	6: 137,345,077 (GRCm39)	T28A	probably benign	Het
Raf1	A	G	6: 115,603,671 (GRCm39)		probably null	Het
Ranbp2	T	C	10: 58,301,351 (GRCm39)	M668T	probably benign	Het
Rbm48	A	T	5: 3,641,760 (GRCm39)		probably null	Het
Rhag	A	T	17: 41,142,469 (GRCm39)	T225S	possibly damaging	Het
Rhof	A	C	5: 123,269,950 (GRCm39)	L69R	probably damaging	Het
Slc24a5	T	C	2: 124,910,724 (GRCm39)	S52P	probably damaging	Het
Slc8a2	T	C	7: 15,875,039 (GRCm39)	V429A	probably damaging	Het
Slfn10-ps	G	A	11: 82,926,388 (GRCm39)		noncoding transcript	Het
Spam1	G	A	6: 24,796,886 (GRCm39)	R279H	probably damaging	Het
Srfbp1	A	G	18: 52,620,588 (GRCm39)	D102G	probably damaging	Het
Srrm3	A	C	5: 135,902,136 (GRCm39)		probably benign	Het
Tk1	T	C	11: 117,712,933 (GRCm39)	E98G	probably damaging	Het
Trim13	G	A	14: 61,843,149 (GRCm39)	V389I	probably benign	Het
Ttc28	A	T	5: 111,383,366 (GRCm39)	Y1289F	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ugt1a10	T	A	1: 87,983,904 (GRCm39)	V234D	probably benign	Het
Vmn2r18	C	A	5: 151,496,395 (GRCm39)		probably benign	Het
Vmn2r75	C	T	7: 85,814,575 (GRCm39)	G306E	probably benign	Het
Vmn2r86	C	T	10: 130,289,497 (GRCm39)	V133I	probably benign	Het
Vps13c	C	A	9: 67,841,758 (GRCm39)	Q1927K	probably benign	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp219	T	A	14: 52,244,395 (GRCm39)	T550S	probably benign	Het
Zfp329	T	A	7: 12,545,395 (GRCm39)	N43I	probably benign	Het
Zfp507	G	A	7: 35,502,048 (GRCm39)		probably benign	Het
Zfp97	T	A	17: 17,365,552 (GRCm39)	F350L	possibly 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
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
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'- TCCAGTCATTGTGCTAAACTCACCG -3'
(R):5'- GAAGCACCTACCTCTCACAGTTGC -3'

Sequencing Primer
(F):5'- CCGAAGAGAGATATTCTGGTTCATCC -3'
(R):5'- caaatcccaaatagcattcacttc -3'

Posted On

2013-10-16