Incidental Mutation 'R7108:Lca5'
ID 551335
Institutional Source Beutler Lab
Gene Symbol Lca5
Ensembl Gene ENSMUSG00000032258
Gene Name Leber congenital amaurosis 5 (human)
Synonyms 4930431B11Rik, ORF64, 5730406O13Rik
MMRRC Submission 045200-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.454) question?
Stock # R7108 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 83272346-83323180 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 83305222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 195 (T195S)
Ref Sequence ENSEMBL: ENSMUSP00000034791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034791] [ENSMUST00000034793] [ENSMUST00000186802] [ENSMUST00000188548] [ENSMUST00000190514]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000034791
AA Change: T195S

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000034791
Gene: ENSMUSG00000032258
AA Change: T195S

DomainStartEndE-ValueType
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: T195S

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000034793
Gene: ENSMUSG00000032258
AA Change: T195S

DomainStartEndE-ValueType
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: ENSMUST00000186802
SMART Domains Protein: ENSMUSP00000139529
Gene: ENSMUSG00000032258

DomainStartEndE-ValueType
low complexity region 25 40 N/A INTRINSIC
Pfam:Lebercilin 102 176 1e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188548
Predicted Effect probably benign
Transcript: ENSMUST00000190514
AA Change: T195S

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000140753
Gene: ENSMUSG00000032258
AA Change: T195S

DomainStartEndE-ValueType
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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T C 11: 58,771,750 (GRCm39) S411P probably damaging Het
4930503L19Rik A T 18: 70,601,547 (GRCm39) Y112N probably benign Het
Abcd2 A T 15: 91,075,477 (GRCm39) V112E probably benign Het
Acadm A T 3: 153,631,437 (GRCm39) Y353* probably null Het
Adra2c A G 5: 35,437,342 (GRCm39) D38G probably benign Het
Ankrd10 C T 8: 11,662,624 (GRCm39) G370R probably damaging Het
Arfgef2 T A 2: 166,715,528 (GRCm39) N1324K possibly damaging Het
Atp6v1b2 A G 8: 69,555,153 (GRCm39) T172A probably damaging Het
Bloc1s1 T A 10: 128,758,592 (GRCm39) K22M possibly damaging Het
Brpf3 A G 17: 29,036,099 (GRCm39) T599A probably benign Het
Cacna1e TTCCAGTCTC TTC 1: 154,344,741 (GRCm39) probably null Het
Ccdc186 T C 19: 56,787,192 (GRCm39) D592G probably damaging Het
Cfap161 A T 7: 83,442,518 (GRCm39) D98E possibly damaging Het
Cfi G A 3: 129,668,665 (GRCm39) V564M probably damaging Het
Cilp2 T A 8: 70,333,779 (GRCm39) Q1073L probably damaging Het
Cox6b1 A G 7: 30,322,929 (GRCm39) C40R possibly damaging Het
Cyp3a59 A T 5: 146,033,143 (GRCm39) M172L probably benign Het
Cyth1 T C 11: 118,073,739 (GRCm39) D198G probably damaging Het
Daam2 T C 17: 49,767,702 (GRCm39) D963G probably damaging Het
Ddi2 A T 4: 141,433,248 (GRCm39) D209E probably benign Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
Dnai7 G A 6: 145,131,591 (GRCm39) Q351* probably null Het
Dpagt1 G T 9: 44,238,318 (GRCm39) probably benign Het
Drc3 T A 11: 60,261,380 (GRCm39) F177Y probably benign Het
Dsg2 T C 18: 20,734,920 (GRCm39) V966A probably damaging Het
E4f1 A G 17: 24,663,552 (GRCm39) V633A probably damaging Het
Eif2ak2 T A 17: 79,165,965 (GRCm39) R411* probably null Het
Frem2 T C 3: 53,560,934 (GRCm39) E1191G probably damaging Het
Fry T C 5: 150,319,251 (GRCm39) V972A probably damaging Het
Fry T A 5: 150,414,555 (GRCm39) C467S Het
Fscn1 T C 5: 142,946,270 (GRCm39) Y23H probably damaging Het
Gm16506 T A 14: 43,961,759 (GRCm39) I163F Het
Gm21103 T C 14: 17,484,768 (GRCm39) Y92C probably damaging Het
Golgb1 A G 16: 36,734,083 (GRCm39) H1151R probably benign Het
Gprc5c T C 11: 114,755,108 (GRCm39) Y262H probably damaging Het
Hc G T 2: 34,929,706 (GRCm39) N245K probably benign Het
Hps6 T A 19: 45,993,929 (GRCm39) L622Q probably damaging Het
Hsd17b1 T C 11: 100,970,035 (GRCm39) Y156H probably damaging Het
Ireb2 T A 9: 54,813,925 (GRCm39) F799L probably damaging Het
Irf1 A G 11: 53,665,238 (GRCm39) D205G probably damaging Het
Kif12 A T 4: 63,089,442 (GRCm39) F103L probably benign Het
Krt12 C T 11: 99,306,878 (GRCm39) V475M unknown Het
Lrrc17 T C 5: 21,780,337 (GRCm39) V437A possibly damaging Het
Malt1 G T 18: 65,597,122 (GRCm39) D468Y probably damaging Het
Man2b2 C T 5: 36,972,829 (GRCm39) A562T probably benign Het
Mrc1 C T 2: 14,308,957 (GRCm39) Q794* probably null Het
Muc16 T A 9: 18,566,529 (GRCm39) I1997L unknown Het
Muc6 AGGCGCAGAAACCCTGGC AGGC 7: 141,214,363 (GRCm39) probably null Het
Mycbp2 A T 14: 103,360,039 (GRCm39) F4518Y probably damaging Het
Myo5a T A 9: 75,037,274 (GRCm39) I159N probably damaging Het
Nat1 T C 8: 67,943,672 (GRCm39) V19A probably benign Het
Ndst4 A G 3: 125,355,120 (GRCm39) T343A probably damaging Het
Nlrp9b A T 7: 19,779,855 (GRCm39) L839F probably damaging Het
Nxnl1 A G 8: 72,019,198 (GRCm39) I9T probably benign Het
Odr4 T C 1: 150,258,041 (GRCm39) Y198C probably benign Het
Or1l4b C T 2: 37,036,272 (GRCm39) T16I probably benign Het
Or2ag12 G A 7: 106,277,255 (GRCm39) A146V probably benign Het
Or2t49 T A 11: 58,393,380 (GRCm39) M7L probably benign Het
Or52b4i A T 7: 102,191,199 (GRCm39) I19F probably damaging Het
Or7a35 C A 10: 78,853,483 (GRCm39) S109* probably null Het
Pou5f2 T C 13: 78,173,384 (GRCm39) S109P possibly damaging Het
Prkcz G A 4: 155,371,250 (GRCm39) Q321* probably null Het
Prr18 G T 17: 8,560,363 (GRCm39) R173L probably damaging Het
Ralgapb T C 2: 158,334,380 (GRCm39) Y1364H probably damaging Het
Ralgapb A T 2: 158,336,582 (GRCm39) I1407F probably damaging Het
Sacs T A 14: 61,448,458 (GRCm39) Y3501* probably null Het
Sall3 G A 18: 81,016,969 (GRCm39) P320S probably benign Het
Scn8a A T 15: 100,937,659 (GRCm39) H1676L probably benign Het
Shmt1 T C 11: 60,689,470 (GRCm39) D178G probably damaging Het
Slmap T C 14: 26,143,676 (GRCm39) K737R probably benign Het
Ssh2 G A 11: 77,345,620 (GRCm39) V1202I probably benign Het
Stard7 A G 2: 127,137,414 (GRCm39) D288G possibly damaging Het
Tek A T 4: 94,741,724 (GRCm39) D827V probably damaging Het
Tfap2e A G 4: 126,614,356 (GRCm39) L276P probably damaging Het
Tns3 T C 11: 8,387,251 (GRCm39) N1312S probably benign Het
Tubd1 T A 11: 86,448,631 (GRCm39) S315T probably damaging Het
Ube2f T A 1: 91,192,941 (GRCm39) C50* probably null Het
Vmn2r109 T C 17: 20,785,006 (GRCm39) I5V probably benign Het
Vmn2r39 T C 7: 9,026,667 (GRCm39) T445A probably damaging Het
Zfp764l1 A G 7: 126,990,695 (GRCm39) S431P probably benign Het
Other mutations in Lca5
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CAGTGAGAACCGGCTACAGAAC -3'
(R):5'- GTTAGCCCAGCTGCTCAAAG -3'

Sequencing Primer
(F):5'- CACAACGAACGAACGGTAAGGC -3'
(R):5'- CTGCTCAAAGAGAACAAGGCTTTG -3'
Posted On 2019-05-15