Incidental Mutation 'IGL02151:Lrch2'
ID 282012
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 # IGL02151
Quality Score
Status
Chromosome X
Chromosomal Location 146253371-146337077 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 146336716 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 111 (F111L)
Ref Sequence ENSEMBL: ENSMUSP00000108438 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112819]
AlphaFold Q3UMG5
Predicted Effect possibly damaging
Transcript: ENSMUST00000112819
AA Change: F111L

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000108438
Gene: ENSMUSG00000031290
AA Change: F111L

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: F121L
SMART Domains Protein: ENSMUSP00000123633
Gene: ENSMUSG00000031290
AA Change: F121L

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
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra3 G T 5: 50,136,484 (GRCm39) T667N probably benign Het
Aff4 T C 11: 53,290,633 (GRCm39) I531T probably benign Het
Akap9 C T 5: 4,082,728 (GRCm39) Q1951* probably null Het
Arhgef10 C T 8: 14,978,889 (GRCm39) T52M possibly damaging Het
Atg2a A G 19: 6,305,787 (GRCm39) E1132G possibly damaging Het
AW551984 A C 9: 39,504,241 (GRCm39) I575S probably benign Het
Cfap299 C T 5: 98,477,301 (GRCm39) T24M probably damaging Het
Cog7 T C 7: 121,543,031 (GRCm39) E460G probably damaging Het
Ctse A G 1: 131,600,273 (GRCm39) I341V probably benign Het
Dcpp1 A T 17: 24,101,568 (GRCm39) I106L possibly damaging Het
Dcxr T A 11: 120,616,809 (GRCm39) M158L probably benign Het
Dnah11 A T 12: 118,023,623 (GRCm39) probably benign Het
Dnah7a T A 1: 53,512,023 (GRCm39) I3013F probably benign Het
Dnah8 A G 17: 30,867,391 (GRCm39) D281G possibly damaging Het
Dpysl3 G A 18: 43,491,365 (GRCm39) H136Y probably damaging Het
Eaf1 C T 14: 31,219,744 (GRCm39) T61M probably damaging Het
Fmnl1 A G 11: 103,083,598 (GRCm39) T441A probably benign Het
Hmgcll1 C T 9: 75,988,720 (GRCm39) P197L probably benign Het
Kdm4b T C 17: 56,703,234 (GRCm39) V643A probably benign Het
Macf1 A T 4: 123,265,559 (GRCm39) probably benign Het
Mfsd4b2 T C 10: 39,797,687 (GRCm39) N223D probably damaging Het
Mug1 G A 6: 121,861,649 (GRCm39) probably null Het
Nek7 A T 1: 138,414,838 (GRCm39) L270Q probably damaging Het
Nexn T A 3: 151,953,881 (GRCm39) D127V probably damaging Het
Nxf3 A G X: 134,980,322 (GRCm39) F130S probably damaging Het
Or11a4 T A 17: 37,536,057 (GRCm39) F14I probably damaging Het
Or52ac1 A G 7: 104,245,741 (GRCm39) S216P probably damaging Het
Pcdhb16 G A 18: 37,611,411 (GRCm39) V124I possibly damaging Het
Podxl T C 6: 31,501,394 (GRCm39) D387G possibly damaging Het
Prp2rt T A 13: 97,235,682 (GRCm39) T22S probably null Het
Rab3d C A 9: 21,827,020 (GRCm39) R70M probably damaging Het
Ripk2 A T 4: 16,139,240 (GRCm39) M219K possibly damaging Het
Rnf146 A G 10: 29,223,349 (GRCm39) V179A probably damaging Het
Robo1 G T 16: 72,786,504 (GRCm39) V839L probably benign Het
Rttn T A 18: 89,038,329 (GRCm39) N808K probably damaging Het
Slc12a3 T G 8: 95,075,220 (GRCm39) V738G probably benign Het
Slc26a3 T C 12: 31,497,830 (GRCm39) V78A probably damaging Het
Slc26a9 G A 1: 131,691,781 (GRCm39) V675M probably damaging Het
Sncb T A 13: 54,910,509 (GRCm39) I76F probably benign Het
Stat4 G A 1: 52,053,029 (GRCm39) R70H probably damaging Het
Tle6 T C 10: 81,434,474 (GRCm39) M42V probably benign Het
Tmem67 T C 4: 12,068,882 (GRCm39) T439A probably benign Het
Ugt2b35 C A 5: 87,151,141 (GRCm39) T249K possibly damaging Het
Vmn1r231 C T 17: 21,109,997 (GRCm39) R306K probably benign Het
Vmn1r42 A T 6: 89,822,023 (GRCm39) I182N possibly damaging Het
Zfhx3 T C 8: 109,520,515 (GRCm39) S546P probably damaging Het
Zic3 G T X: 57,076,899 (GRCm39) probably null Het
Other mutations in Lrch2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02619:Lrch2 APN X 146,302,131 (GRCm39) missense probably damaging 1.00
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