Incidental Mutation 'R6220:Lrrc45'
ID 503966
Institutional Source Beutler Lab
Gene Symbol Lrrc45
Ensembl Gene ENSMUSG00000025145
Gene Name leucine rich repeat containing 45
Synonyms
MMRRC Submission 044352-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # R6220 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 120604779-120611954 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120610353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 488 (I488T)
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: I488T

PolyPhen 2 Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000026139
Gene: ENSMUSG00000025145
AA Change: I488T

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (65/65)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16b A G 2: 181,135,578 (GRCm39) D160G probably damaging Het
Acap1 A G 11: 69,780,505 (GRCm39) F15S probably damaging Het
Adam30 A T 3: 98,068,625 (GRCm39) S153C probably damaging Het
Afp A T 5: 90,652,269 (GRCm39) D420V possibly damaging Het
Ak9 T A 10: 41,246,095 (GRCm39) H729Q unknown Het
Armh3 T C 19: 45,834,554 (GRCm39) E618G possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Bcr A G 10: 74,898,124 (GRCm39) T423A probably benign Het
Cc2d1b C T 4: 108,490,422 (GRCm39) R825W probably damaging Het
Ctns T C 11: 73,083,954 (GRCm39) T23A probably benign Het
Ddx54 T A 5: 120,758,754 (GRCm39) N332K probably benign Het
Dysf T A 6: 84,126,727 (GRCm39) I1344N probably damaging Het
Elovl3 A T 19: 46,122,939 (GRCm39) M172L probably benign Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Filip1l T A 16: 57,390,352 (GRCm39) N313K probably benign Het
Foxp2 C A 6: 15,437,947 (GRCm39) T716K probably damaging Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm10645 A G 8: 83,892,386 (GRCm39) probably benign Het
Gm10735 T C 13: 113,178,030 (GRCm39) probably benign Het
Gm4847 A T 1: 166,462,541 (GRCm39) D316E probably damaging Het
Gorasp2 T C 2: 70,521,134 (GRCm39) L388P probably damaging Het
Heatr5b A G 17: 79,081,106 (GRCm39) L1382P probably damaging Het
Herc1 A G 9: 66,341,070 (GRCm39) Y1729C probably damaging Het
Ifi207 A T 1: 173,557,112 (GRCm39) L542H probably damaging Het
Ighv3-5 T A 12: 114,226,338 (GRCm39) N96I probably damaging Het
Isl1 T C 13: 116,439,803 (GRCm39) T182A probably benign Het
Jph4 T C 14: 55,347,542 (GRCm39) E421G probably benign Het
Mroh8 A G 2: 157,075,083 (GRCm39) I471T probably benign Het
Ms4a2 A T 19: 11,594,927 (GRCm39) D96E probably damaging Het
Mst1r T A 9: 107,784,547 (GRCm39) N68K probably benign Het
Myo18b A G 5: 112,905,373 (GRCm39) M2075T possibly damaging Het
Neb T C 2: 52,160,984 (GRCm39) K2229R probably null Het
Nkx6-3 T A 8: 23,643,987 (GRCm39) probably null Het
Nlrp1a C A 11: 71,033,164 (GRCm39) S10I probably benign Het
Npas2 A T 1: 39,375,142 (GRCm39) T487S probably benign Het
Nrxn1 G C 17: 91,395,904 (GRCm39) T84R probably benign Het
Or4k2 C A 14: 50,424,135 (GRCm39) D180Y probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdh18 A G 3: 49,699,700 (GRCm39) C921R probably damaging Het
Pcdha9 A G 18: 37,131,531 (GRCm39) Y200C probably damaging Het
Pknox1 A T 17: 31,822,177 (GRCm39) R315* probably null Het
Rasgrp1 C T 2: 117,115,410 (GRCm39) W726* probably null Het
Rassf8 G A 6: 145,762,859 (GRCm39) R402H probably damaging Het
Rev3l T A 10: 39,698,775 (GRCm39) Y1091N probably damaging Het
Riok3 T G 18: 12,282,608 (GRCm39) V349G probably damaging Het
Rps18 A T 17: 34,174,110 (GRCm39) V15E probably damaging Het
Rptor A T 11: 119,788,268 (GRCm39) Y1323F possibly damaging Het
Rspry1 T C 8: 95,385,378 (GRCm39) C437R probably damaging Het
Sema5a T A 15: 32,686,875 (GRCm39) Y996N probably damaging Het
Smarcad1 A G 6: 65,091,313 (GRCm39) I1011M probably benign Het
Supv3l1 A T 10: 62,274,800 (GRCm39) M295K possibly damaging Het
Sv2c T C 13: 96,113,134 (GRCm39) D605G probably damaging Het
Teddm1b G A 1: 153,750,947 (GRCm39) W252* probably null Het
Tes T A 6: 17,086,195 (GRCm39) C29* probably null Het
Thsd4 A G 9: 59,890,030 (GRCm39) W856R probably damaging Het
Treml4 A T 17: 48,571,876 (GRCm39) D93V possibly damaging Het
Trim66 T C 7: 109,082,300 (GRCm39) T218A probably damaging Het
Tssk5 T C 15: 76,257,973 (GRCm39) D128G probably damaging Het
Ubr3 T A 2: 69,850,819 (GRCm39) W1746R probably damaging Het
Vmn2r11 T C 5: 109,201,434 (GRCm39) I357V probably benign Het
Vmn2r87 A T 10: 130,315,807 (GRCm39) D86E probably benign Het
Zfp184 T G 13: 22,144,377 (GRCm39) H694Q probably damaging Het
Zranb3 A C 1: 127,927,141 (GRCm39) F341L 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
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
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'- TGTGGAGAAGTTTCCCCAGC -3'
(R):5'- CGACTCTATGTCAGCTCTACTAAC -3'

Sequencing Primer
(F):5'- AGAAGTTTCCCCAGCCTGGC -3'
(R):5'- GTCAGCTCTACTAACTCATTTCTAGC -3'
Posted On 2018-02-27