Incidental Mutation 'R3000:Lrrc45'
ID 257259
Institutional Source Beutler Lab
Gene Symbol Lrrc45
Ensembl Gene ENSMUSG00000025145
Gene Name leucine rich repeat containing 45
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # R3000 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 120604779-120611954 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 120609273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 377 (D377E)
Ref Sequence ENSEMBL: ENSMUSP00000123038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018156] [ENSMUST00000026137] [ENSMUST00000026139] [ENSMUST00000055424] [ENSMUST00000106154] [ENSMUST00000106155] [ENSMUST00000145781] [ENSMUST00000151852] [ENSMUST00000142229]
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: ENSMUST00000026137
SMART Domains Protein: ENSMUSP00000026137
Gene: ENSMUSG00000025144

DomainStartEndE-ValueType
Pfam:CENP-X 55 107 3e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000026139
AA Change: D377E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000026139
Gene: ENSMUSG00000025145
AA Change: D377E

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 probably benign
Transcript: ENSMUST00000055424
SMART Domains Protein: ENSMUSP00000050335
Gene: ENSMUSG00000025144

DomainStartEndE-ValueType
Pfam:CENP-X 8 78 7.7e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106154
SMART Domains Protein: ENSMUSP00000101760
Gene: ENSMUSG00000025144

DomainStartEndE-ValueType
Pfam:CENP-X 44 114 6.1e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106155
SMART Domains Protein: ENSMUSP00000101761
Gene: ENSMUSG00000025144

DomainStartEndE-ValueType
low complexity region 39 50 N/A INTRINSIC
low complexity region 86 110 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145781
AA Change: D377E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000123038
Gene: ENSMUSG00000025145
AA Change: D377E

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 noncoding transcript
Transcript: ENSMUST00000134322
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
Predicted Effect probably benign
Transcript: ENSMUST00000142229
SMART Domains Protein: ENSMUSP00000119523
Gene: ENSMUSG00000018012

DomainStartEndE-ValueType
RHO 6 172 3.19e-127 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank1 A G 8: 23,609,447 (GRCm39) K1364E probably damaging Het
Ankrd27 T A 7: 35,307,755 (GRCm39) N331K probably damaging Het
Bco2 C A 9: 50,450,229 (GRCm39) D324Y probably damaging Het
Cpne1 A G 2: 155,915,342 (GRCm39) *211R probably null Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Khdrbs1 A T 4: 129,619,456 (GRCm39) H228Q probably damaging Het
Lrfn1 G A 7: 28,166,832 (GRCm39) G742E probably damaging Het
Marf1 T A 16: 13,960,505 (GRCm39) Y513F possibly damaging Het
Mcoln3 T A 3: 145,839,662 (GRCm39) I338N possibly damaging Het
Mep1b G A 18: 21,226,361 (GRCm39) G408S probably damaging Het
Pdlim5 C A 3: 142,017,892 (GRCm39) Q125H probably damaging Het
Peg10 CCAACAACAACAACAACAACAACA CCAACAACAACAACAACAACA 6: 4,754,276 (GRCm39) probably benign Het
Pkd1 G A 17: 24,813,460 (GRCm39) R4000H probably damaging Het
Ripor3 A T 2: 167,833,100 (GRCm39) Y357N probably damaging Het
Smchd1 A T 17: 71,670,033 (GRCm39) D1679E probably benign Het
Stac3 C T 10: 127,344,016 (GRCm39) R305C probably benign Het
Tex10 A T 4: 48,459,393 (GRCm39) probably null Het
Ttc21a T C 9: 119,781,320 (GRCm39) Y498H probably benign Het
Txnrd2 T C 16: 18,273,263 (GRCm39) F239S probably damaging Het
Vac14 T A 8: 111,360,949 (GRCm39) L173Q probably damaging Het
Zfhx4 T A 3: 5,468,714 (GRCm39) N2982K 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
R1426:Lrrc45 UTSW 11 120,610,839 (GRCm39) missense probably benign 0.00
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
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'- AAGTGTATGACAGCGGCCTAAC -3'
(R):5'- TGCTCTGAAGGCGTCTTGTC -3'

Sequencing Primer
(F):5'- CAGATCGGGAGTCCAAGTTACTC -3'
(R):5'- AAGGCGTCTTGTCCCTGGAG -3'
Posted On 2015-01-11