Incidental Mutation 'R7273:Lrrc56'
ID 565402
Institutional Source Beutler Lab
Gene Symbol Lrrc56
Ensembl Gene ENSMUSG00000038637
Gene Name leucine rich repeat containing 56
Synonyms 5730427C23Rik
MMRRC Submission 045357-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R7273 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 140774070-140789968 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140789578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 532 (C532R)
Ref Sequence ENSEMBL: ENSMUSP00000048691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026573] [ENSMUST00000047093] [ENSMUST00000070458] [ENSMUST00000084446] [ENSMUST00000170841] [ENSMUST00000209220]
AlphaFold Q8K375
Predicted Effect probably benign
Transcript: ENSMUST00000026573
SMART Domains Protein: ENSMUSP00000026573
Gene: ENSMUSG00000025500

DomainStartEndE-ValueType
coiled coil region 114 170 N/A INTRINSIC
low complexity region 286 298 N/A INTRINSIC
Pfam:LTD 375 482 1.3e-13 PFAM
low complexity region 567 578 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000047093
AA Change: C532R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000048691
Gene: ENSMUSG00000038637
AA Change: C532R

DomainStartEndE-ValueType
low complexity region 59 71 N/A INTRINSIC
Pfam:LRR_4 138 177 9.1e-8 PFAM
LRRcap 212 230 4.44e-1 SMART
low complexity region 294 310 N/A INTRINSIC
low complexity region 390 404 N/A INTRINSIC
low complexity region 449 458 N/A INTRINSIC
low complexity region 474 496 N/A INTRINSIC
low complexity region 523 536 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000070458
AA Change: C532R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000063912
Gene: ENSMUSG00000038637
AA Change: C532R

DomainStartEndE-ValueType
low complexity region 59 71 N/A INTRINSIC
Pfam:LRR_7 116 132 4e-2 PFAM
Pfam:LRR_8 116 171 8.7e-8 PFAM
Pfam:LRR_4 117 158 7.2e-11 PFAM
Pfam:LRR_1 139 159 2.9e-2 PFAM
LRRcap 212 230 4.44e-1 SMART
low complexity region 294 310 N/A INTRINSIC
low complexity region 390 404 N/A INTRINSIC
low complexity region 449 458 N/A INTRINSIC
low complexity region 474 496 N/A INTRINSIC
low complexity region 523 536 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000084446
SMART Domains Protein: ENSMUSP00000081486
Gene: ENSMUSG00000038637

DomainStartEndE-ValueType
low complexity region 59 71 N/A INTRINSIC
Pfam:LRR_7 116 132 3.5e-2 PFAM
Pfam:LRR_8 116 171 6.9e-8 PFAM
Pfam:LRR_4 117 158 6.7e-11 PFAM
Pfam:LRR_6 136 160 5.9e-2 PFAM
Pfam:LRR_1 139 159 2.6e-2 PFAM
Pfam:LRR_6 157 182 4.1e-2 PFAM
Pfam:LRR_1 161 199 5.9e-2 PFAM
LRRcap 212 230 4.44e-1 SMART
low complexity region 294 310 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170841
SMART Domains Protein: ENSMUSP00000130905
Gene: ENSMUSG00000025500

DomainStartEndE-ValueType
coiled coil region 124 180 N/A INTRINSIC
low complexity region 296 308 N/A INTRINSIC
SCOP:d1ifra_ 385 487 1e-22 SMART
low complexity region 577 588 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209220
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (49/49)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol10a A T 15: 77,373,068 (GRCm39) I235F probably damaging Het
Aspn A T 13: 49,712,352 (GRCm39) E222D probably benign Het
Cfap221 A T 1: 119,881,948 (GRCm39) V280D possibly damaging Het
Chrd G A 16: 20,560,316 (GRCm39) R922Q probably benign Het
Cnga4 T A 7: 105,056,172 (GRCm39) V361E probably damaging Het
Col15a1 T A 4: 47,284,467 (GRCm39) probably null Het
Col6a4 A G 9: 105,877,656 (GRCm39) V2107A possibly damaging Het
Eea1 G T 10: 95,825,493 (GRCm39) V63F probably benign Het
Eml1 A G 12: 108,504,432 (GRCm39) H797R possibly damaging Het
Il1r2 A G 1: 40,151,167 (GRCm39) T141A probably benign Het
Il6st T C 13: 112,631,832 (GRCm39) V457A probably benign Het
Kif19b T A 5: 140,461,767 (GRCm39) V523E probably damaging Het
Lrrn4 T C 2: 132,721,749 (GRCm39) S23G unknown Het
Mapk8ip3 A T 17: 25,125,148 (GRCm39) D498E probably benign Het
Mcam T C 9: 44,052,241 (GRCm39) F584S possibly damaging Het
Mdga1 A T 17: 30,188,912 (GRCm39) D50E unknown Het
Mga T C 2: 119,765,695 (GRCm39) S1320P probably damaging Het
Muc5b G A 7: 141,405,307 (GRCm39) G905D unknown Het
Ncor2 T C 5: 125,100,687 (GRCm39) N1297S Het
Nisch A G 14: 30,896,364 (GRCm39) V946A unknown Het
Npc1l1 A G 11: 6,168,320 (GRCm39) F957S probably damaging Het
Nuggc A G 14: 65,857,057 (GRCm39) N402S probably damaging Het
Nup210l A G 3: 90,025,854 (GRCm39) T159A probably benign Het
Or10g6 A T 9: 39,933,961 (GRCm39) I91F probably benign Het
Otud1 A G 2: 19,663,873 (GRCm39) D334G probably damaging Het
Pclo T C 5: 14,731,608 (GRCm39) V3370A unknown Het
Prdm16 A G 4: 154,429,910 (GRCm39) L353P probably damaging Het
Prepl A C 17: 85,389,420 (GRCm39) V128G probably benign Het
Pum1 T C 4: 130,478,791 (GRCm39) V568A probably damaging Het
Rab10 G T 12: 3,306,891 (GRCm39) S101R probably benign Het
Rfx3 C T 19: 27,779,858 (GRCm39) R435Q probably damaging Het
Rnf213 A T 11: 119,322,582 (GRCm39) probably null Het
Sema5a A G 15: 32,417,608 (GRCm39) D26G probably benign Het
Slc49a3 T C 5: 108,589,857 (GRCm39) D515G probably benign Het
Spata31d1b G A 13: 59,865,446 (GRCm39) V865I probably benign Het
Sycp3 A T 10: 88,305,428 (GRCm39) Q176H probably damaging Het
Tdpoz8 G T 3: 92,981,475 (GRCm39) M90I probably damaging Het
Tmprss11d A T 5: 86,485,098 (GRCm39) V102D probably damaging Het
Top1mt A G 15: 75,535,931 (GRCm39) V457A probably benign Het
Tubal3 T A 13: 3,980,675 (GRCm39) I129N probably damaging Het
Ubr3 G A 2: 69,809,677 (GRCm39) D1217N probably damaging Het
Uggt1 A G 1: 36,201,302 (GRCm39) I1146T probably damaging Het
Umod T C 7: 119,076,250 (GRCm39) Q172R probably benign Het
Uqcc5 G T 14: 30,846,555 (GRCm39) R55S probably damaging Het
Zdbf2 C T 1: 63,342,563 (GRCm39) A314V possibly damaging Het
Zfp787 A T 7: 6,136,039 (GRCm39) C71S possibly damaging Het
Zhx2 C T 15: 57,686,824 (GRCm39) A731V probably benign Het
Other mutations in Lrrc56
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02619:Lrrc56 APN 7 140,787,546 (GRCm39) unclassified probably benign
IGL02886:Lrrc56 APN 7 140,777,090 (GRCm39) splice site probably benign
IGL03290:Lrrc56 APN 7 140,779,685 (GRCm39) splice site probably benign
IGL03348:Lrrc56 APN 7 140,787,153 (GRCm39) missense probably benign 0.01
R0624:Lrrc56 UTSW 7 140,786,366 (GRCm39) missense probably damaging 1.00
R1333:Lrrc56 UTSW 7 140,778,177 (GRCm39) intron probably benign
R1385:Lrrc56 UTSW 7 140,785,438 (GRCm39) missense probably damaging 1.00
R1857:Lrrc56 UTSW 7 140,787,421 (GRCm39) missense probably benign
R1858:Lrrc56 UTSW 7 140,787,421 (GRCm39) missense probably benign
R1859:Lrrc56 UTSW 7 140,787,421 (GRCm39) missense probably benign
R2234:Lrrc56 UTSW 7 140,778,207 (GRCm39) missense probably damaging 1.00
R2324:Lrrc56 UTSW 7 140,785,476 (GRCm39) splice site probably benign
R3807:Lrrc56 UTSW 7 140,789,298 (GRCm39) missense probably benign
R5347:Lrrc56 UTSW 7 140,789,537 (GRCm39) missense probably benign 0.00
R6194:Lrrc56 UTSW 7 140,785,564 (GRCm39) missense probably damaging 1.00
R7500:Lrrc56 UTSW 7 140,789,443 (GRCm39) missense probably benign
R7799:Lrrc56 UTSW 7 140,789,515 (GRCm39) missense probably damaging 1.00
R8097:Lrrc56 UTSW 7 140,775,819 (GRCm39) critical splice acceptor site probably null
R8725:Lrrc56 UTSW 7 140,778,246 (GRCm39) missense possibly damaging 0.87
R9803:Lrrc56 UTSW 7 140,787,520 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ACGTAGGCTTAGAGTTCTGGGC -3'
(R):5'- ATCTTCCCAGGATGCTTGCG -3'

Sequencing Primer
(F):5'- CTTAGAGTTCTGGGCAGCTTG -3'
(R):5'- GCGCAATTTTGAACCCTAGG -3'
Posted On 2019-06-26