Incidental Mutation 'R2394:Lrrc46'
ID 247921
Institutional Source Beutler Lab
Gene Symbol Lrrc46
Ensembl Gene ENSMUSG00000020878
Gene Name leucine rich repeat containing 46
Synonyms 1700006D24Rik
MMRRC Submission 040362-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R2394 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 96925428-96932195 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96929657 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 60 (I60V)
Ref Sequence ENSEMBL: ENSMUSP00000021251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001485] [ENSMUST00000021249] [ENSMUST00000021251] [ENSMUST00000054252]
AlphaFold Q9DAP0
Predicted Effect probably benign
Transcript: ENSMUST00000001485
SMART Domains Protein: ENSMUSP00000001485
Gene: ENSMUSG00000001445

DomainStartEndE-ValueType
low complexity region 66 73 N/A INTRINSIC
low complexity region 109 120 N/A INTRINSIC
low complexity region 202 211 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000021249
SMART Domains Protein: ENSMUSP00000021249
Gene: ENSMUSG00000020877

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
Pfam:Peptidase_C69 83 254 2e-10 PFAM
coiled coil region 362 395 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000021251
AA Change: I60V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021251
Gene: ENSMUSG00000020878
AA Change: I60V

DomainStartEndE-ValueType
SCOP:d1h6ua2 44 150 1e-15 SMART
Blast:LRR 69 91 7e-6 BLAST
low complexity region 179 191 N/A INTRINSIC
low complexity region 209 225 N/A INTRINSIC
low complexity region 265 292 N/A INTRINSIC
low complexity region 297 323 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000054252
SMART Domains Protein: ENSMUSP00000103244
Gene: ENSMUSG00000001445

DomainStartEndE-ValueType
low complexity region 66 73 N/A INTRINSIC
low complexity region 109 120 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120287
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126874
Meta Mutation Damage Score 0.3673 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (41/41)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L13Rik A T 7: 29,980,053 (GRCm39) probably benign Het
Abca17 T C 17: 24,500,190 (GRCm39) probably null Het
Atxn7 T C 14: 14,100,237 (GRCm38) V641A probably damaging Het
C3 G A 17: 57,529,303 (GRCm39) Q30* probably null Het
Ccdc162 A G 10: 41,445,894 (GRCm39) I426T probably damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Cwc27 A C 13: 104,932,942 (GRCm39) D253E probably benign Het
Cyp1a1 T A 9: 57,607,432 (GRCm39) V20D probably benign Het
Dmbt1 T A 7: 130,696,464 (GRCm39) Y892* probably null Het
Dnhd1 T A 7: 105,369,438 (GRCm39) Y4354N probably benign Het
Dync2li1 T A 17: 84,952,175 (GRCm39) I202K possibly damaging Het
Dyrk1a T A 16: 94,485,991 (GRCm39) V446E probably benign Het
Efcab3 C A 11: 104,629,121 (GRCm39) T933K probably benign Het
Fam186b T C 15: 99,178,058 (GRCm39) I423V probably benign Het
Gm5108 T C 5: 68,132,475 (GRCm39) probably benign Het
Htr3a A G 9: 48,817,643 (GRCm39) V110A probably benign Het
Itsn2 C A 12: 4,757,005 (GRCm39) S1365Y possibly damaging Het
Mtrex A T 13: 113,019,702 (GRCm39) Y803N probably benign Het
Nlrp14 T C 7: 106,797,031 (GRCm39) V307A probably benign Het
Nt5c2 A G 19: 46,878,506 (GRCm39) probably null Het
Obox2 C T 7: 15,130,935 (GRCm39) P56S possibly damaging Het
Olfml2b A G 1: 170,477,319 (GRCm39) I151M possibly damaging Het
Oog3 T A 4: 143,885,884 (GRCm39) D238V probably benign Het
Pde11a T C 2: 75,889,405 (GRCm39) T690A probably benign Het
Ppa1 A G 10: 61,508,163 (GRCm39) probably benign Het
Ppfia2 A G 10: 106,655,351 (GRCm39) E306G probably damaging Het
Ppic G A 18: 53,544,119 (GRCm39) R89C probably damaging Het
Ptprk T G 10: 28,427,713 (GRCm39) I764S probably damaging Het
Ripk2 T C 4: 16,132,774 (GRCm39) probably benign Het
Rnf123 A G 9: 107,940,735 (GRCm39) M702T probably benign Het
Slco1b2 T C 6: 141,615,100 (GRCm39) I335T probably damaging Het
Ssbp1 T A 6: 40,453,743 (GRCm39) D96E probably benign Het
Tpp2 T A 1: 44,022,346 (GRCm39) S915T possibly damaging Het
Unc5c A T 3: 141,383,892 (GRCm39) Q90L probably damaging Het
Vmn2r57 A G 7: 41,049,619 (GRCm39) I710T possibly damaging Het
Wdr90 G A 17: 26,070,429 (GRCm39) P1104L probably damaging Het
Other mutations in Lrrc46
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01757:Lrrc46 APN 11 96,926,701 (GRCm39) missense probably damaging 1.00
IGL01933:Lrrc46 APN 11 96,926,354 (GRCm39) missense probably benign 0.21
R0054:Lrrc46 UTSW 11 96,929,605 (GRCm39) missense probably damaging 1.00
R0054:Lrrc46 UTSW 11 96,929,605 (GRCm39) missense probably damaging 1.00
R0082:Lrrc46 UTSW 11 96,931,903 (GRCm39) unclassified probably benign
R1104:Lrrc46 UTSW 11 96,926,997 (GRCm39) missense probably damaging 1.00
R1756:Lrrc46 UTSW 11 96,925,556 (GRCm39) unclassified probably benign
R2885:Lrrc46 UTSW 11 96,925,806 (GRCm39) missense probably damaging 1.00
R2932:Lrrc46 UTSW 11 96,931,935 (GRCm39) unclassified probably benign
R4361:Lrrc46 UTSW 11 96,925,496 (GRCm39) unclassified probably benign
R4678:Lrrc46 UTSW 11 96,925,719 (GRCm39) missense probably benign 0.37
R4989:Lrrc46 UTSW 11 96,931,765 (GRCm39) missense probably damaging 1.00
R5150:Lrrc46 UTSW 11 96,926,957 (GRCm39) missense probably damaging 1.00
R6390:Lrrc46 UTSW 11 96,931,757 (GRCm39) missense probably damaging 1.00
R6467:Lrrc46 UTSW 11 96,927,305 (GRCm39) missense possibly damaging 0.93
R6860:Lrrc46 UTSW 11 96,926,371 (GRCm39) missense probably benign 0.05
R7373:Lrrc46 UTSW 11 96,929,706 (GRCm39) missense probably benign 0.17
R8188:Lrrc46 UTSW 11 96,931,705 (GRCm39) missense probably damaging 1.00
R9723:Lrrc46 UTSW 11 96,925,773 (GRCm39) missense possibly damaging 0.63
Predicted Primers PCR Primer
(F):5'- TTGGGAATGTTCTCCTGGCC -3'
(R):5'- GTCACGAAGCTGTCCTTGAC -3'

Sequencing Primer
(F):5'- GGGAATGTTCTCCTGGCCAAAAC -3'
(R):5'- GAAGCTGTCCTTGACATCTCAAAG -3'
Posted On 2014-11-11