Incidental Mutation 'R7081:Lrrc40'
ID 549508
Institutional Source Beutler Lab
Gene Symbol Lrrc40
Ensembl Gene ENSMUSG00000063052
Gene Name leucine rich repeat containing 40
Synonyms 2610040E16Rik
MMRRC Submission 045175-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R7081 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 157742319-157772727 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 157742442 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 27 (V27A)
Ref Sequence ENSEMBL: ENSMUSP00000071956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069025] [ENSMUST00000072080] [ENSMUST00000121326] [ENSMUST00000126716] [ENSMUST00000137444] [ENSMUST00000150525] [ENSMUST00000156597] [ENSMUST00000200540]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000069025
SMART Domains Protein: ENSMUSP00000063916
Gene: ENSMUSG00000055436

DomainStartEndE-ValueType
low complexity region 64 88 N/A INTRINSIC
low complexity region 91 114 N/A INTRINSIC
low complexity region 186 264 N/A INTRINSIC
low complexity region 271 310 N/A INTRINSIC
low complexity region 328 335 N/A INTRINSIC
low complexity region 365 374 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000072080
AA Change: V27A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000071956
Gene: ENSMUSG00000063052
AA Change: V27A

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: ENSMUST00000121326
SMART Domains Protein: ENSMUSP00000113685
Gene: ENSMUSG00000055436

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
low complexity region 40 59 N/A INTRINSIC
RRM 62 136 3.13e-7 SMART
low complexity region 152 176 N/A INTRINSIC
low complexity region 179 202 N/A INTRINSIC
low complexity region 274 352 N/A INTRINSIC
low complexity region 362 444 N/A INTRINSIC
low complexity region 463 470 N/A INTRINSIC
low complexity region 500 509 N/A INTRINSIC
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: ENSMUST00000126716
SMART Domains Protein: ENSMUSP00000114370
Gene: ENSMUSG00000055436

DomainStartEndE-ValueType
low complexity region 5 24 N/A INTRINSIC
RRM 27 101 3.13e-7 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000121417
Gene: ENSMUSG00000063052
AA Change: V28A

DomainStartEndE-ValueType
SCOP:d1fqva2 80 110 2e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137444
SMART Domains Protein: ENSMUSP00000122686
Gene: ENSMUSG00000055436

DomainStartEndE-ValueType
low complexity region 5 24 N/A INTRINSIC
RRM 27 101 3.13e-7 SMART
low complexity region 117 141 N/A INTRINSIC
low complexity region 144 167 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000150525
AA Change: V27A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116475
Gene: ENSMUSG00000063052
AA Change: V27A

DomainStartEndE-ValueType
SCOP:d1fqva2 81 111 3e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000156597
AA Change: V27A

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000200540
AA Change: V19A

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf T A 11: 84,361,951 (GRCm39) H337L possibly damaging Het
Abcb4 T A 5: 8,984,263 (GRCm39) N664K probably benign Het
Adh7 A G 3: 137,934,606 (GRCm39) D343G probably benign Het
Als2cl G A 9: 110,723,650 (GRCm39) R682Q possibly damaging Het
Angptl6 A C 9: 20,786,644 (GRCm39) I334R probably damaging Het
Ankrd45 A G 1: 160,978,863 (GRCm39) N101D probably benign Het
Arhgef10 C T 8: 15,047,547 (GRCm39) Q1137* probably null Het
Asap3 T A 4: 135,968,881 (GRCm39) probably null Het
Bmp2k T C 5: 97,212,820 (GRCm39) S568P unknown Het
C4b A C 17: 34,954,417 (GRCm39) F917L probably benign Het
Cacna1e A T 1: 154,576,129 (GRCm39) V168E possibly damaging Het
Ccdc60 T A 5: 116,264,146 (GRCm39) I543F probably benign Het
Cd36 T C 5: 18,019,702 (GRCm39) D133G probably damaging Het
Chd4 T C 6: 125,106,948 (GRCm39) V1911A unknown Het
Cplx4 A T 18: 66,100,538 (GRCm39) probably null Het
Cyp1a2 A T 9: 57,586,272 (GRCm39) D415E possibly damaging Het
Cyp3a57 T C 5: 145,318,183 (GRCm39) I388T probably damaging Het
Dnajc5b T C 3: 19,601,025 (GRCm39) probably null Het
Dock4 A T 12: 40,671,285 (GRCm39) I35F probably damaging Het
Efna4 A T 3: 89,241,601 (GRCm39) L206Q unknown Het
Eif2a T C 3: 58,449,139 (GRCm39) probably null Het
Fam120a A G 13: 49,063,801 (GRCm39) F612L probably damaging Het
Fbxw21 A G 9: 108,990,990 (GRCm39) L23P probably damaging Het
Fcamr A T 1: 130,740,949 (GRCm39) E456V probably damaging Het
Fkbp8 G A 8: 70,983,644 (GRCm39) R106H probably benign Het
Galr2 T A 11: 116,173,874 (GRCm39) L168Q probably damaging Het
Gm11111 C T 5: 98,701,399 (GRCm39) S22L unknown Het
Gnpat T C 8: 125,590,008 (GRCm39) F11S possibly damaging Het
H2-T24 A T 17: 36,328,344 (GRCm39) D46E probably damaging Het
Idh2 GGTCCCAG GG 7: 79,748,077 (GRCm39) probably benign Het
Ifna12 T C 4: 88,521,440 (GRCm39) R36G probably damaging Het
Kcnma1 G A 14: 23,350,086 (GRCm39) P1151L probably damaging Het
Kif5c T A 2: 49,631,373 (GRCm39) D683E probably benign Het
Krit1 T C 5: 3,873,651 (GRCm39) Y477H possibly damaging Het
Lipm T A 19: 34,098,723 (GRCm39) V399D possibly damaging Het
Lrguk A T 6: 34,079,074 (GRCm39) T770S probably benign Het
Lrrc37a T C 11: 103,348,781 (GRCm39) N2638S unknown Het
Map4k1 T C 7: 28,690,574 (GRCm39) V355A probably benign Het
Mylk3 T C 8: 86,091,422 (GRCm39) I128V probably benign Het
Myo1c A G 11: 75,551,789 (GRCm39) D289G probably benign Het
Mypn A G 10: 62,970,737 (GRCm39) F889S probably damaging Het
Ndufv3 C T 17: 31,746,407 (GRCm39) P99L possibly damaging Het
Nlrp10 A C 7: 108,523,855 (GRCm39) S542A probably benign Het
Noc2l T A 4: 156,331,477 (GRCm39) D718E possibly damaging Het
Ntng1 T A 3: 109,759,105 (GRCm39) I355F probably benign Het
Nup210 A G 6: 91,037,647 (GRCm39) V742A possibly damaging Het
Nup50l A G 6: 96,142,798 (GRCm39) V82A possibly damaging Het
Olig2 T A 16: 91,023,307 (GRCm39) L7Q probably damaging Het
Or51f23b A T 7: 102,402,395 (GRCm39) I247N probably benign Het
Or8u10 A T 2: 85,915,939 (GRCm39) F61I probably damaging Het
Parpbp A T 10: 87,929,517 (GRCm39) W444R probably damaging Het
Plekhg3 A G 12: 76,625,019 (GRCm39) E1287G probably benign Het
Pramel16 T C 4: 143,675,848 (GRCm39) D326G probably damaging Het
Pramel56 T A 5: 95,022,641 (GRCm39) N107K possibly damaging Het
Prrc2b A T 2: 32,103,075 (GRCm39) Q851L probably benign Het
Psg21 C T 7: 18,388,774 (GRCm39) W106* probably null Het
Rab18 T G 18: 6,778,529 (GRCm39) D53E probably benign Het
Rbm19 T A 5: 120,261,216 (GRCm39) probably null Het
Rhobtb1 T C 10: 69,102,127 (GRCm39) V136A probably benign Het
Rsph4a G A 10: 33,785,189 (GRCm39) V367I probably damaging Het
Sec24b T C 3: 129,781,391 (GRCm39) N1161S probably benign Het
Sgcd C A 11: 47,016,428 (GRCm39) G145* probably null Het
Sin3a A G 9: 57,001,755 (GRCm39) K134R probably null Het
Slc9b2 A G 3: 135,027,698 (GRCm39) E108G probably benign Het
Stk24 A T 14: 121,531,706 (GRCm39) S317T probably benign Het
Stra8 T A 6: 34,911,302 (GRCm39) probably null Het
Tmem131 A G 1: 36,928,376 (GRCm39) V71A possibly damaging Het
Tmem87a T C 2: 120,211,264 (GRCm39) D227G possibly damaging Het
Vnn1 T A 10: 23,770,903 (GRCm39) L44M possibly damaging Het
Wdr20 G A 12: 110,769,884 (GRCm39) V160I possibly damaging Het
Zfand4 T A 6: 116,292,581 (GRCm39) N667K possibly damaging Het
Zfp1005 A G 2: 150,110,189 (GRCm39) H293R possibly damaging Het
Zfp609 A G 9: 65,609,723 (GRCm39) V1080A possibly damaging Het
Zhx1 C T 15: 57,917,734 (GRCm39) V171I probably benign 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
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
V1662:Lrrc40 UTSW 3 157,758,426 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGGCCCGGATTACTGTGAG -3'
(R):5'- GCGAATTTACTCCCAAACTACGATG -3'

Sequencing Primer
(F):5'- CCGGATTACTGTGAGGCGGAAG -3'
(R):5'- GTGGACATCTCAGTGAACACTTCG -3'
Posted On 2019-05-15