Incidental Mutation 'IGL02619:Lrch2'
ID 300786
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrch2
Ensembl Gene ENSMUSG00000031290
Gene Name leucine-rich repeats and calponin homology (CH) domain containing 2
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # IGL02619
Quality Score
Status
Chromosome X
Chromosomal Location 146253371-146337077 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 146302131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 264 (C264Y)
Ref Sequence ENSEMBL: ENSMUSP00000108438 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112819]
AlphaFold Q3UMG5
Predicted Effect probably damaging
Transcript: ENSMUST00000112819
AA Change: C264Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108438
Gene: ENSMUSG00000031290
AA Change: C264Y

DomainStartEndE-ValueType
low complexity region 6 52 N/A INTRINSIC
LRR 141 163 7.59e1 SMART
LRR_TYP 164 187 4.11e-2 SMART
LRR 209 231 6.59e1 SMART
LRR 232 255 2.67e-1 SMART
LRR 277 300 3.36e1 SMART
low complexity region 437 454 N/A INTRINSIC
low complexity region 462 477 N/A INTRINSIC
low complexity region 580 593 N/A INTRINSIC
CH 656 759 1.98e-14 SMART
Predicted Effect unknown
Transcript: ENSMUST00000136789
AA Change: C274Y
SMART Domains Protein: ENSMUSP00000123633
Gene: ENSMUSG00000031290
AA Change: C274Y

DomainStartEndE-ValueType
low complexity region 17 63 N/A INTRINSIC
LRR 152 174 7.59e1 SMART
LRR_TYP 175 198 4.11e-2 SMART
LRR 220 242 6.59e1 SMART
LRR 243 266 2.67e-1 SMART
LRR 288 311 3.36e1 SMART
low complexity region 448 465 N/A INTRINSIC
low complexity region 473 488 N/A INTRINSIC
low complexity region 591 604 N/A INTRINSIC
CH 667 770 1.98e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137665
SMART Domains Protein: ENSMUSP00000117458
Gene: ENSMUSG00000031290

DomainStartEndE-ValueType
low complexity region 150 167 N/A INTRINSIC
low complexity region 175 190 N/A INTRINSIC
low complexity region 271 284 N/A INTRINSIC
CH 347 450 1.98e-14 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the leucine-rich repeat and calponin homology domain-containing protein family. These family members contain multiple N-terminal leucine-rich repeats, in addition to a C-terminal calponin homology domain, a type of domain that mediates interactions with actin filaments. These proteins are conserved across animal species, and studies of a similar Drosophila protein indicate a function as a cytoskeletal scaffolding protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011]
PHENOTYPE: Male chimeras hemizygous for a gene trapped allele appear normal at E9.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 C T 1: 179,620,016 (GRCm39) G220E possibly damaging Het
Arhgef10l A G 4: 140,321,504 (GRCm39) I101T probably benign Het
Armc8 T C 9: 99,409,122 (GRCm39) probably benign Het
Camkk2 A T 5: 122,902,298 (GRCm39) C4S probably damaging Het
Ccdc174 T A 6: 91,876,538 (GRCm39) D458E possibly damaging Het
Cercam A G 2: 29,770,686 (GRCm39) N419S probably benign Het
Clca3a2 T C 3: 144,512,083 (GRCm39) N551S probably damaging Het
Cldn18 T A 9: 99,580,988 (GRCm39) I87F probably damaging Het
Ctso T A 3: 81,848,836 (GRCm39) probably benign Het
Ddhd2 C A 8: 26,236,981 (GRCm39) probably null Het
Dscaml1 T A 9: 45,359,094 (GRCm39) Y118N probably damaging Het
Ece1 C T 4: 137,666,044 (GRCm39) A296V probably benign Het
Fbxo40 T A 16: 36,790,766 (GRCm39) I115F possibly damaging Het
Fkbp9 T A 6: 56,827,609 (GRCm39) N143K probably damaging Het
Foxk2 G T 11: 121,190,402 (GRCm39) probably benign Het
Ggnbp1 A G 17: 27,248,529 (GRCm39) K33E probably benign Het
Hace1 A T 10: 45,547,530 (GRCm39) probably benign Het
Hk3 A T 13: 55,162,107 (GRCm39) C133S probably damaging Het
Kbtbd3 C T 9: 4,331,252 (GRCm39) A542V probably damaging Het
Lrrc56 C A 7: 140,787,546 (GRCm39) probably benign Het
Lrtm2 C T 6: 119,294,199 (GRCm39) V311M probably damaging Het
N4bp1 G T 8: 87,587,529 (GRCm39) Q470K probably benign Het
Naa15 A C 3: 51,367,552 (GRCm39) D575A probably benign Het
Ncaph A T 2: 126,969,456 (GRCm39) V69D probably damaging Het
Nlrp5 G A 7: 23,123,489 (GRCm39) probably null Het
Nmbr A G 10: 14,636,331 (GRCm39) D100G probably damaging Het
Ofcc1 C T 13: 40,250,553 (GRCm39) V588M possibly damaging Het
Or4b13 G T 2: 90,082,849 (GRCm39) T161N probably damaging Het
Or5p4 C A 7: 107,680,949 (GRCm39) probably benign Het
Osmr C A 15: 6,871,475 (GRCm39) R314M probably damaging Het
Pcdhb16 C T 18: 37,611,270 (GRCm39) Q77* probably null Het
Pglyrp4 G A 3: 90,642,955 (GRCm39) probably null Het
Ptprh A G 7: 4,552,498 (GRCm39) F922S probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Rp1 T A 1: 4,418,673 (GRCm39) Q813L possibly damaging Het
Sgtb A G 13: 104,254,922 (GRCm39) N64S probably benign Het
Slc5a12 T C 2: 110,471,201 (GRCm39) V481A probably benign Het
Slitrk1 A G 14: 109,149,349 (GRCm39) V454A probably benign Het
Sntg2 C A 12: 30,317,025 (GRCm39) probably null Het
Synj1 C T 16: 90,770,933 (GRCm39) V499I probably damaging Het
Tmco1 T C 1: 167,153,597 (GRCm39) probably benign Het
Tmem38b T C 4: 53,848,871 (GRCm39) I92T probably damaging Het
Tmem9 T C 1: 135,955,145 (GRCm39) V93A probably benign Het
Ttn T A 2: 76,625,582 (GRCm39) R15080S possibly damaging Het
Ube2e3 T C 2: 78,749,065 (GRCm39) I138T probably damaging Het
Urgcp A G 11: 5,665,752 (GRCm39) I862T possibly damaging Het
Vmn1r68 A T 7: 10,261,603 (GRCm39) I165N probably benign Het
Washc4 G A 10: 83,394,717 (GRCm39) V316I possibly damaging Het
Zfp111 A T 7: 23,899,113 (GRCm39) L166Q possibly damaging Het
Zfyve1 A T 12: 83,597,718 (GRCm39) probably benign Het
Zscan18 A G 7: 12,508,793 (GRCm39) probably benign Het
Other mutations in Lrch2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02151:Lrch2 APN X 146,336,716 (GRCm39) missense possibly damaging 0.75
IGL02619:Lrch2 APN X 146,263,537 (GRCm39) missense probably damaging 1.00
R2920:Lrch2 UTSW X 146,256,026 (GRCm39) missense probably damaging 1.00
R3885:Lrch2 UTSW X 146,256,003 (GRCm39) missense probably damaging 1.00
R3886:Lrch2 UTSW X 146,256,003 (GRCm39) missense probably damaging 1.00
R6293:Lrch2 UTSW X 146,263,553 (GRCm39) missense probably damaging 1.00
R6296:Lrch2 UTSW X 146,263,553 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16