Incidental Mutation 'V1662:Lrrc40'
ID 63479
Institutional Source Beutler Lab
Gene Symbol Lrrc40
Ensembl Gene ENSMUSG00000063052
Gene Name leucine rich repeat containing 40
Synonyms 2610040E16Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # V1662 () of strain 633
Quality Score 137
Status Not validated
Chromosome 3
Chromosomal Location 157742319-157772727 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 157758426 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 277 (I277K)
Ref Sequence ENSEMBL: ENSMUSP00000071956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072080] [ENSMUST00000150525] [ENSMUST00000156597] [ENSMUST00000200540]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000072080
AA Change: I277K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071956
Gene: ENSMUSG00000063052
AA Change: I277K

DomainStartEndE-ValueType
LRR 81 100 7.11e1 SMART
LRR 104 126 6.13e-1 SMART
LRR 127 149 1.51e0 SMART
LRR_TYP 150 172 8.47e-4 SMART
LRR 173 195 3.52e-1 SMART
LRR_TYP 196 219 2.91e-2 SMART
LRR 242 261 9.15e0 SMART
LRR 265 287 1.01e2 SMART
LRR 288 310 1.86e1 SMART
LRR 311 334 2.32e-1 SMART
LRR 335 356 2.21e2 SMART
LRR 471 493 1.86e0 SMART
LRR 494 517 8.97e0 SMART
LRR 541 564 1.53e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123028
SMART Domains Protein: ENSMUSP00000121905
Gene: ENSMUSG00000063052

DomainStartEndE-ValueType
SCOP:d1fqva2 37 68 3e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131518
SMART Domains Protein: ENSMUSP00000121417
Gene: ENSMUSG00000063052

DomainStartEndE-ValueType
SCOP:d1fqva2 80 110 2e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150525
SMART Domains Protein: ENSMUSP00000116475
Gene: ENSMUSG00000063052

DomainStartEndE-ValueType
SCOP:d1fqva2 81 111 3e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156597
Predicted Effect probably benign
Transcript: ENSMUST00000200540
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb G C 5: 114,376,769 (GRCm39) G1951R probably damaging Het
Adamts12 T A 15: 11,071,894 (GRCm39) L146Q probably benign Het
Adgra1 T C 7: 139,432,495 (GRCm39) I111T probably damaging Het
Amph G A 13: 19,323,540 (GRCm39) V601M probably benign Het
Arfgef1 T C 1: 10,243,478 (GRCm39) K1024E probably damaging Het
Arhgef2 G A 3: 88,540,636 (GRCm39) R154Q probably damaging Het
Bank1 T A 3: 135,760,179 (GRCm39) D782V probably damaging Het
Bhlha9 G T 11: 76,563,862 (GRCm39) R163L probably benign Het
Cacna1h T C 17: 25,596,283 (GRCm39) N1913D possibly damaging Het
Cd7 T C 11: 120,927,952 (GRCm39) I184V probably benign Het
Cdk2ap1 T A 5: 124,486,739 (GRCm39) I68F possibly damaging Het
Cfap44 C A 16: 44,269,501 (GRCm39) Y1168* probably null Het
D6Ertd527e T C 6: 87,088,874 (GRCm39) S346P unknown Het
Daam2 A G 17: 49,771,629 (GRCm39) L839P possibly damaging Het
Gask1a A G 9: 121,794,091 (GRCm39) R82G probably damaging Het
Golgb1 A G 16: 36,718,904 (GRCm39) H270R probably benign Het
H2-T9 A G 17: 36,439,823 (GRCm39) Y104H probably benign Het
Itgav C T 2: 83,614,198 (GRCm39) R519W possibly damaging Het
Lrp1b A T 2: 41,012,944 (GRCm39) I2001K probably damaging Het
Or2y8 T C 11: 52,036,004 (GRCm39) M118V probably damaging Het
Or5bw2 A T 7: 6,573,818 (GRCm39) Y276F probably damaging Het
Or5m13 C A 2: 85,748,938 (GRCm39) T223K probably benign Het
Or6b13 C T 7: 139,781,871 (GRCm39) D271N possibly damaging Het
Pyroxd1 G A 6: 142,304,169 (GRCm39) G307S probably damaging Het
Rp1 T A 1: 4,419,783 (GRCm39) Y443F probably damaging Het
Rpusd4 C A 9: 35,184,057 (GRCm39) S237R probably benign Het
Sdk2 A C 11: 113,725,734 (GRCm39) W1172G probably damaging Het
Utrn A G 10: 12,297,384 (GRCm39) Y675H probably damaging Het
Vmn1r193 A G 13: 22,403,245 (GRCm39) I249T possibly damaging Het
Other mutations in Lrrc40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Lrrc40 APN 3 157,754,087 (GRCm39) missense probably damaging 1.00
IGL00501:Lrrc40 APN 3 157,766,919 (GRCm39) missense probably damaging 0.96
IGL00727:Lrrc40 APN 3 157,769,508 (GRCm39) critical splice donor site probably null
IGL01349:Lrrc40 APN 3 157,764,302 (GRCm39) splice site probably benign
IGL02377:Lrrc40 APN 3 157,742,365 (GRCm39) start codon destroyed probably null 1.00
IGL02490:Lrrc40 APN 3 157,768,336 (GRCm39) missense probably damaging 1.00
IGL02657:Lrrc40 APN 3 157,742,410 (GRCm39) missense probably damaging 1.00
IGL02879:Lrrc40 APN 3 157,747,302 (GRCm39) intron probably benign
IGL02944:Lrrc40 APN 3 157,747,302 (GRCm39) intron probably benign
IGL02954:Lrrc40 APN 3 157,747,302 (GRCm39) intron probably benign
IGL02966:Lrrc40 APN 3 157,747,302 (GRCm39) intron probably benign
IGL03004:Lrrc40 APN 3 157,747,302 (GRCm39) intron probably benign
IGL03032:Lrrc40 APN 3 157,747,302 (GRCm39) intron probably benign
IGL03112:Lrrc40 APN 3 157,747,302 (GRCm39) intron probably benign
IGL03163:Lrrc40 APN 3 157,747,224 (GRCm39) missense possibly damaging 0.82
I2288:Lrrc40 UTSW 3 157,758,426 (GRCm39) missense probably damaging 1.00
R0266:Lrrc40 UTSW 3 157,747,298 (GRCm39) critical splice donor site probably null
R0355:Lrrc40 UTSW 3 157,746,108 (GRCm39) missense probably damaging 0.99
R0457:Lrrc40 UTSW 3 157,760,201 (GRCm39) splice site probably null
R0968:Lrrc40 UTSW 3 157,742,426 (GRCm39) missense probably damaging 1.00
R1799:Lrrc40 UTSW 3 157,742,441 (GRCm39) missense probably benign 0.38
R1962:Lrrc40 UTSW 3 157,746,086 (GRCm39) missense probably benign 0.01
R4614:Lrrc40 UTSW 3 157,760,271 (GRCm39) missense probably damaging 1.00
R4825:Lrrc40 UTSW 3 157,766,967 (GRCm39) nonsense probably null
R4857:Lrrc40 UTSW 3 157,771,866 (GRCm39) utr 3 prime probably benign
R4947:Lrrc40 UTSW 3 157,769,472 (GRCm39) missense probably benign 0.00
R5148:Lrrc40 UTSW 3 157,760,206 (GRCm39) splice site probably null
R5673:Lrrc40 UTSW 3 157,754,035 (GRCm39) splice site probably null
R6354:Lrrc40 UTSW 3 157,766,901 (GRCm39) nonsense probably null
R6382:Lrrc40 UTSW 3 157,764,333 (GRCm39) missense probably damaging 0.98
R6713:Lrrc40 UTSW 3 157,769,350 (GRCm39) missense probably benign 0.00
R7081:Lrrc40 UTSW 3 157,742,442 (GRCm39) missense probably damaging 0.98
R7098:Lrrc40 UTSW 3 157,747,276 (GRCm39) missense probably benign 0.29
R7484:Lrrc40 UTSW 3 157,746,194 (GRCm39) missense probably benign 0.14
R8043:Lrrc40 UTSW 3 157,769,397 (GRCm39) missense possibly damaging 0.81
R8093:Lrrc40 UTSW 3 157,757,419 (GRCm39) nonsense probably null
R8461:Lrrc40 UTSW 3 157,764,371 (GRCm39) missense possibly damaging 0.66
R9564:Lrrc40 UTSW 3 157,746,078 (GRCm39) missense probably benign 0.27
Predicted Primers PCR Primer
(F):5'- TGGTTTGAGGTATAGCATTAGCACTGC -3'
(R):5'- TCTGAAATGTGACTACACATCTGCTTCC -3'

Sequencing Primer
(F):5'- GCTGGGAAATTCCATTCACTATG -3'
(R):5'- ATTAACTTGGCTGTCAGGGAAG -3'
Posted On 2013-07-30