Incidental Mutation 'R2973:Lrrc42'
ID 255272
Institutional Source Beutler Lab
Gene Symbol Lrrc42
Ensembl Gene ENSMUSG00000028617
Gene Name leucine rich repeat containing 42
Synonyms A930011F22Rik
MMRRC Submission 040526-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R2973 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 107090711-107110729 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107096311 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 40 (D40E)
Ref Sequence ENSEMBL: ENSMUSP00000120501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030360] [ENSMUST00000144176]
AlphaFold Q8R2U7
Predicted Effect possibly damaging
Transcript: ENSMUST00000030360
AA Change: D297E

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000030360
Gene: ENSMUSG00000028617
AA Change: D297E

DomainStartEndE-ValueType
SCOP:d1yrga_ 126 305 1e-7 SMART
low complexity region 391 406 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137837
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142657
Predicted Effect probably damaging
Transcript: ENSMUST00000144176
AA Change: D40E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.1227 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 98% (44/45)
Allele List at MGI

All alleles(10) : Targeted, other(2) Gene trapped(8)
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T G 10: 79,844,801 (GRCm39) F1508V probably damaging Het
Angptl7 T A 4: 148,584,671 (GRCm39) K26* probably null Het
Aoc1l1 A G 6: 48,953,358 (GRCm39) T428A probably benign Het
BC048507 T C 13: 68,011,749 (GRCm39) I42T probably benign Het
Cald1 A G 6: 34,734,931 (GRCm39) probably benign Het
Ces5a A G 8: 94,255,132 (GRCm39) F187S probably damaging Het
Chd3 A G 11: 69,251,442 (GRCm39) Y530H probably damaging Het
Crnkl1 A G 2: 145,774,181 (GRCm39) L94P probably benign Het
Cst9 G T 2: 148,677,145 (GRCm39) probably null Het
Cstdc2 T C 2: 148,692,706 (GRCm39) D32G probably benign Het
D930007J09Rik C T 13: 32,986,742 (GRCm39) probably benign Het
Dcaf10 T C 4: 45,373,957 (GRCm39) S461P probably benign Het
Dhx36 T A 3: 62,402,916 (GRCm39) N279Y probably benign Het
Dhx36 C G 3: 62,402,919 (GRCm39) G278R possibly damaging Het
Eps8l3 T C 3: 107,798,644 (GRCm39) I510T probably damaging Het
Gab2 A G 7: 96,872,759 (GRCm39) E54G probably benign Het
Gsdme A G 6: 50,206,304 (GRCm39) C180R probably damaging Het
Hesx1 A G 14: 26,722,599 (GRCm39) probably benign Het
Il5ra G A 6: 106,718,196 (GRCm39) P86L probably benign Het
Jakmip1 A G 5: 37,248,871 (GRCm39) K177R probably damaging Het
Larp4b T C 13: 9,216,347 (GRCm39) probably benign Het
Mefv G A 16: 3,533,558 (GRCm39) R238* probably null Het
Mroh9 A T 1: 162,884,338 (GRCm39) M400K probably damaging Het
Or12j2 T G 7: 139,916,300 (GRCm39) F175C probably damaging Het
Or5ac22 A C 16: 59,135,767 (GRCm39) M1R probably null Het
Or5d37 A G 2: 87,923,458 (GRCm39) L274P probably benign Het
Plec C G 15: 76,072,961 (GRCm39) G631R probably damaging Het
Polr3b A G 10: 84,464,144 (GRCm39) K35E probably benign Het
Ppef2 T C 5: 92,386,953 (GRCm39) E328G probably benign Het
Rogdi G T 16: 4,829,526 (GRCm39) Q90K probably damaging Het
Rtn1 C A 12: 72,270,163 (GRCm39) R116L probably damaging Het
Septin14 T C 5: 129,776,086 (GRCm39) H31R probably benign Het
Serpinb9e T A 13: 33,439,126 (GRCm39) V184E probably benign Het
Slc10a5 A T 3: 10,399,517 (GRCm39) I381N probably damaging Het
Slit1 G A 19: 41,599,455 (GRCm39) P1032L probably benign Het
Sptlc3 A G 2: 139,431,581 (GRCm39) T368A probably damaging Het
Tm9sf1 T A 14: 55,878,571 (GRCm39) T274S probably benign Het
Tpgs1 A G 10: 79,505,449 (GRCm39) E69G probably damaging Het
Trpv5 T C 6: 41,630,165 (GRCm39) S642G possibly damaging Het
Ttn A C 2: 76,632,661 (GRCm39) I12385S probably damaging Het
Ube2e2 T C 14: 18,630,321 (GRCm38) D137G possibly damaging Het
Ubr4 T C 4: 139,133,847 (GRCm39) Y748H probably benign Het
Ugt8a T C 3: 125,708,957 (GRCm39) H51R probably benign Het
Vcp T A 4: 42,996,315 (GRCm39) I16F probably damaging Het
Vmn2r117 A G 17: 23,678,830 (GRCm39) V798A probably damaging Het
Other mutations in Lrrc42
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02418:Lrrc42 APN 4 107,100,533 (GRCm39) nonsense probably null
3-1:Lrrc42 UTSW 4 107,091,147 (GRCm39) missense probably damaging 0.99
R0164:Lrrc42 UTSW 4 107,104,702 (GRCm39) missense probably benign 0.01
R0164:Lrrc42 UTSW 4 107,104,702 (GRCm39) missense probably benign 0.01
R0178:Lrrc42 UTSW 4 107,104,917 (GRCm39) missense probably damaging 0.99
R4654:Lrrc42 UTSW 4 107,104,746 (GRCm39) missense probably damaging 1.00
R4721:Lrrc42 UTSW 4 107,091,050 (GRCm39) missense probably benign 0.12
R7267:Lrrc42 UTSW 4 107,096,983 (GRCm39) missense probably damaging 1.00
R8434:Lrrc42 UTSW 4 107,104,721 (GRCm39) missense probably damaging 0.99
R8851:Lrrc42 UTSW 4 107,096,375 (GRCm39) missense probably benign 0.13
R9324:Lrrc42 UTSW 4 107,104,913 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CACCATTGATGATTGAGGTGAG -3'
(R):5'- TGGGACTTCGCTTCTCTTACAG -3'

Sequencing Primer
(F):5'- CCATTGATGATTGAGGTGAGAAGTAC -3'
(R):5'- ATGGGCATATGTCACCATGC -3'
Posted On 2014-12-29