Incidental Mutation 'R4158:Lrrc45'
ID 315639
Institutional Source Beutler Lab
Gene Symbol Lrrc45
Ensembl Gene ENSMUSG00000025145
Gene Name leucine rich repeat containing 45
Synonyms
MMRRC Submission 041001-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # R4158 (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 120609272 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 377 (D377V)
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: D377V

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000026139
Gene: ENSMUSG00000025145
AA Change: D377V

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 possibly damaging
Transcript: ENSMUST00000145781
AA Change: D377V

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000123038
Gene: ENSMUSG00000025145
AA Change: D377V

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
Meta Mutation Damage Score 0.0765 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 97% (38/39)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T C 8: 44,103,854 (GRCm39) H597R probably damaging Het
Adgrf4 G T 17: 42,978,568 (GRCm39) H258Q probably benign Het
Ankrd1 T A 19: 36,095,273 (GRCm39) K138N probably damaging Het
Arg1 T C 10: 24,798,575 (GRCm39) E25G probably damaging Het
Arhgef19 T C 4: 140,973,660 (GRCm39) I49T possibly damaging Het
Bsn A G 9: 107,990,145 (GRCm39) V1869A possibly damaging Het
Cep350 G A 1: 155,808,621 (GRCm39) R652W probably damaging Het
Cyp19a1 G A 9: 54,093,980 (GRCm39) T94I probably damaging Het
Dnajc13 G A 9: 104,067,641 (GRCm39) L1173F probably damaging Het
Dse A G 10: 34,029,330 (GRCm39) F587L probably damaging Het
Efcab14 A C 4: 115,597,594 (GRCm39) D63A probably damaging Het
Eomes A G 9: 118,308,031 (GRCm39) T35A probably benign Het
Fbxl20 T C 11: 97,986,220 (GRCm39) probably benign Het
Flcn T C 11: 59,691,947 (GRCm39) N234S probably benign Het
Gm20939 A T 17: 95,184,162 (GRCm39) Y270F possibly damaging Het
Ikzf4 A T 10: 128,479,605 (GRCm39) probably benign Het
Il22b T C 10: 118,129,037 (GRCm39) T151A probably damaging Het
Kcne4 A G 1: 78,795,819 (GRCm39) N156D probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Magi3 T C 3: 103,958,277 (GRCm39) K603E probably damaging Het
Mocos T C 18: 24,807,303 (GRCm39) I345T probably damaging Het
Nox4 A T 7: 87,046,032 (GRCm39) H557L possibly damaging Het
Oasl1 A G 5: 115,075,073 (GRCm39) K378E possibly damaging Het
Pla2r1 A T 2: 60,252,966 (GRCm39) I1375K probably damaging Het
Ppp6r3 T A 19: 3,562,037 (GRCm39) H208L probably damaging Het
Ptprz1 A T 6: 23,001,683 (GRCm39) K1258* probably null Het
Ptprz1 T C 6: 23,022,204 (GRCm39) I844T possibly damaging Het
Sdk1 A G 5: 142,100,154 (GRCm39) I1395V probably benign Het
Sec31b T C 19: 44,513,625 (GRCm39) N470S probably benign Het
Slc26a7 T C 4: 14,544,197 (GRCm39) T369A probably benign Het
Tex14 T G 11: 87,407,595 (GRCm39) S900R probably benign Het
Ush2a G A 1: 188,460,907 (GRCm39) V2723M probably damaging Het
Vat1l T A 8: 115,098,469 (GRCm39) M413K probably benign Het
Zfp981 C A 4: 146,622,080 (GRCm39) P335Q probably benign Het
Zfp981 T A 4: 146,622,339 (GRCm39) H421Q probably benign 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
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
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'- AGTGTATGACAGCGGCCTAAC -3'
(R):5'- TGCTCTGAAGGCGTCTTGTC -3'

Sequencing Primer
(F):5'- CAGATCGGGAGTCCAAGTTACTC -3'
(R):5'- AAGGCGTCTTGTCCCTGGAG -3'
Posted On 2015-05-14