Incidental Mutation 'R1426:Lrrc45'
ID 162253
Institutional Source Beutler Lab
Gene Symbol Lrrc45
Ensembl Gene ENSMUSG00000025145
Gene Name leucine rich repeat containing 45
Synonyms
MMRRC Submission 039482-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # R1426 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 120604779-120611954 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120610839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 525 (Q525L)
Ref Sequence ENSEMBL: ENSMUSP00000026139 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018156] [ENSMUST00000026139] [ENSMUST00000142229] [ENSMUST00000145781] [ENSMUST00000151852]
AlphaFold Q8CIM1
Predicted Effect probably benign
Transcript: ENSMUST00000018156
SMART Domains Protein: ENSMUSP00000018156
Gene: ENSMUSG00000018012

DomainStartEndE-ValueType
RHO 6 179 8.8e-139 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000026139
AA Change: Q525L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000026139
Gene: ENSMUSG00000025145
AA Change: Q525L

DomainStartEndE-ValueType
LRR 57 84 9.11e0 SMART
LRR 85 112 1.01e-1 SMART
Blast:LRR 113 142 4e-11 BLAST
LRR 143 170 4.47e-3 SMART
LRR 171 198 2.2e-2 SMART
LRR 199 226 1.66e2 SMART
coiled coil region 360 645 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134322
Predicted Effect probably benign
Transcript: ENSMUST00000142229
SMART Domains Protein: ENSMUSP00000119523
Gene: ENSMUSG00000018012

DomainStartEndE-ValueType
RHO 6 172 3.19e-127 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145781
SMART Domains Protein: ENSMUSP00000123038
Gene: ENSMUSG00000025145

DomainStartEndE-ValueType
LRR 57 84 9.11e0 SMART
LRR 85 112 1.01e-1 SMART
Blast:LRR 113 142 1e-10 BLAST
LRR 143 170 4.47e-3 SMART
LRR 171 198 2.2e-2 SMART
LRR 199 226 1.66e2 SMART
coiled coil region 360 399 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150225
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155187
Predicted Effect probably benign
Transcript: ENSMUST00000151852
SMART Domains Protein: ENSMUSP00000115298
Gene: ENSMUSG00000025145

DomainStartEndE-ValueType
low complexity region 50 65 N/A INTRINSIC
Pfam:LRR_6 85 108 1e-2 PFAM
Blast:LRR 113 142 3e-11 BLAST
Pfam:LRR_6 143 162 7.6e-3 PFAM
Pfam:LRR_1 145 159 6.8e-2 PFAM
Meta Mutation Damage Score 0.0721 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.3%
  • 20x: 86.1%
Validation Efficiency 100% (40/40)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A T 17: 46,635,361 (GRCm39) V214E probably damaging Het
Adh1 A G 3: 137,992,556 (GRCm39) D224G probably damaging Het
Arhgap28 C A 17: 68,164,459 (GRCm39) Q554H probably damaging Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
Brat1 G A 5: 140,703,768 (GRCm39) V674I probably benign Het
Brd2 ATCTTCTTC ATCTTC 17: 34,332,981 (GRCm39) probably benign Het
Ccdc162 T C 10: 41,429,178 (GRCm39) D438G possibly damaging Het
Cyp4x1 T A 4: 114,969,988 (GRCm39) probably benign Het
Dip2a T C 10: 76,115,654 (GRCm39) probably benign Het
Eif2s1 A G 12: 78,927,942 (GRCm39) D206G probably benign Het
Elovl7 T A 13: 108,419,028 (GRCm39) I220N possibly damaging Het
Gsto1 A G 19: 47,846,381 (GRCm39) E76G probably damaging Het
Hspa14 A T 2: 3,509,858 (GRCm39) W12R probably damaging Het
L3mbtl2 T A 15: 81,560,518 (GRCm39) C260S possibly damaging Het
Lama3 G T 18: 12,614,155 (GRCm39) probably null Het
Lrrc34 T A 3: 30,697,728 (GRCm39) probably benign Het
Lss T C 10: 76,372,137 (GRCm39) I164T probably damaging Het
Myh11 T A 16: 14,023,795 (GRCm39) K1527* probably null Het
Naip2 T C 13: 100,298,362 (GRCm39) E558G probably benign Het
Naip2 C T 13: 100,298,368 (GRCm39) G556D probably benign Het
Ncoa1 T A 12: 4,320,737 (GRCm39) probably benign Het
Or5an1c G T 19: 12,218,546 (GRCm39) Q160K possibly damaging Het
Or6c38 A T 10: 128,929,559 (GRCm39) C95S probably damaging Het
Pafah1b3 T C 7: 24,996,560 (GRCm39) E41G possibly damaging Het
Pnma8a C T 7: 16,694,909 (GRCm39) P255S possibly damaging Het
Prkar2b A T 12: 32,012,987 (GRCm39) probably benign Het
Rbck1 A T 2: 152,169,161 (GRCm39) probably benign Het
Rcor2 A G 19: 7,248,395 (GRCm39) S137G possibly damaging Het
Slc25a48 T A 13: 56,596,804 (GRCm39) probably benign Het
Slc7a4 A G 16: 17,391,808 (GRCm39) probably null Het
Tert T C 13: 73,790,472 (GRCm39) probably benign Het
Traf7 A T 17: 24,730,655 (GRCm39) I344N probably damaging Het
Vmn1r194 T A 13: 22,429,236 (GRCm39) F284L probably damaging Het
Xpc A G 6: 91,470,220 (GRCm39) M699T probably damaging Het
Zbtb5 T C 4: 44,993,968 (GRCm39) H472R possibly damaging Het
Zfp786 A G 6: 47,802,013 (GRCm39) V88A probably benign Het
Zkscan7 T C 9: 122,724,228 (GRCm39) I399T probably benign Het
Zyg11b G A 4: 108,108,009 (GRCm39) R466C probably damaging Het
Other mutations in Lrrc45
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00850:Lrrc45 APN 11 120,611,436 (GRCm39) splice site probably benign
IGL01120:Lrrc45 APN 11 120,610,836 (GRCm39) missense probably benign
IGL01536:Lrrc45 APN 11 120,606,410 (GRCm39) missense probably benign 0.01
IGL01839:Lrrc45 APN 11 120,607,975 (GRCm39) splice site probably null
IGL02190:Lrrc45 APN 11 120,609,334 (GRCm39) missense probably damaging 0.99
IGL02302:Lrrc45 APN 11 120,609,351 (GRCm39) missense possibly damaging 0.68
IGL02724:Lrrc45 APN 11 120,609,144 (GRCm39) missense probably benign 0.25
BB002:Lrrc45 UTSW 11 120,606,706 (GRCm39) missense probably benign
BB012:Lrrc45 UTSW 11 120,606,706 (GRCm39) missense probably benign
R0396:Lrrc45 UTSW 11 120,605,733 (GRCm39) splice site probably benign
R0420:Lrrc45 UTSW 11 120,606,045 (GRCm39) missense probably damaging 1.00
R0540:Lrrc45 UTSW 11 120,605,988 (GRCm39) nonsense probably null
R0833:Lrrc45 UTSW 11 120,609,019 (GRCm39) splice site probably null
R0942:Lrrc45 UTSW 11 120,609,064 (GRCm39) unclassified probably benign
R1252:Lrrc45 UTSW 11 120,606,297 (GRCm39) missense probably benign 0.13
R1543:Lrrc45 UTSW 11 120,610,844 (GRCm39) missense probably benign 0.06
R1570:Lrrc45 UTSW 11 120,610,935 (GRCm39) critical splice donor site probably null
R2392:Lrrc45 UTSW 11 120,610,365 (GRCm39) missense probably benign 0.00
R3000:Lrrc45 UTSW 11 120,609,273 (GRCm39) missense probably benign 0.00
R3930:Lrrc45 UTSW 11 120,609,503 (GRCm39) missense probably benign 0.06
R4158:Lrrc45 UTSW 11 120,609,272 (GRCm39) missense possibly damaging 0.52
R4161:Lrrc45 UTSW 11 120,609,272 (GRCm39) missense possibly damaging 0.52
R4432:Lrrc45 UTSW 11 120,606,047 (GRCm39) critical splice donor site probably null
R4647:Lrrc45 UTSW 11 120,609,947 (GRCm39) missense probably benign 0.02
R6030:Lrrc45 UTSW 11 120,611,474 (GRCm39) nonsense probably null
R6030:Lrrc45 UTSW 11 120,611,474 (GRCm39) nonsense probably null
R6220:Lrrc45 UTSW 11 120,610,353 (GRCm39) missense probably benign 0.37
R7676:Lrrc45 UTSW 11 120,611,148 (GRCm39) missense probably damaging 1.00
R7925:Lrrc45 UTSW 11 120,606,706 (GRCm39) missense probably benign
R9067:Lrrc45 UTSW 11 120,606,649 (GRCm39) missense possibly damaging 0.92
R9069:Lrrc45 UTSW 11 120,607,947 (GRCm39) missense probably benign
R9366:Lrrc45 UTSW 11 120,611,552 (GRCm39) missense probably damaging 1.00
X0026:Lrrc45 UTSW 11 120,611,058 (GRCm39) missense probably damaging 1.00
Z1088:Lrrc45 UTSW 11 120,611,057 (GRCm39) missense probably damaging 1.00
Z1177:Lrrc45 UTSW 11 120,609,491 (GRCm39) missense possibly damaging 0.90
Z1177:Lrrc45 UTSW 11 120,609,479 (GRCm39) missense probably benign 0.43
Predicted Primers PCR Primer
(F):5'- AGACGCTTCTGGATGCAGGATGAG -3'
(R):5'- TGAGATCATGGCCTGGATGCAAAC -3'

Sequencing Primer
(F):5'- TATGGCACCATGCAGCCC -3'
(R):5'- CTGGATGCAAACTCCTGGTG -3'
Posted On 2014-03-14