Incidental Mutation 'IGL02672:Lrrc8c'
ID 302949
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc8c
Ensembl Gene ENSMUSG00000054720
Gene Name leucine rich repeat containing 8 family, member C
Synonyms E430036I04Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02672
Quality Score
Status
Chromosome 5
Chromosomal Location 105667254-105760884 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 105755224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 333 (T333M)
Ref Sequence ENSEMBL: ENSMUSP00000066015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067924] [ENSMUST00000153754]
AlphaFold Q8R502
Predicted Effect possibly damaging
Transcript: ENSMUST00000067924
AA Change: T333M

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000066015
Gene: ENSMUSG00000054720
AA Change: T333M

DomainStartEndE-ValueType
Pfam:Pannexin_like 1 338 5.7e-152 PFAM
low complexity region 398 407 N/A INTRINSIC
LRR 588 611 3.97e0 SMART
LRR 613 635 1.81e2 SMART
LRR 636 658 2.2e1 SMART
LRR_TYP 659 682 1.45e-2 SMART
LRR 684 703 3.56e2 SMART
LRR 705 728 2.92e1 SMART
LRR 751 774 1.09e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000153754
SMART Domains Protein: ENSMUSP00000114899
Gene: ENSMUSG00000054720

DomainStartEndE-ValueType
Pfam:DUF3733 1 65 4.8e-35 PFAM
low complexity region 78 93 N/A INTRINSIC
Pfam:DUF3733 99 158 1.7e-26 PFAM
Meta Mutation Damage Score 0.1860 question?
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit a reduction in body weight, white adipose tissue weight, and insulin resistance on a high-fat diet, indicating protection from diet-induced obesity and insulin resistance. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn C T 4: 156,259,018 (GRCm39) probably benign Het
Alpi A G 1: 87,028,994 (GRCm39) L60P probably damaging Het
Arpc1a A C 5: 145,041,697 (GRCm39) I327L probably damaging Het
Col5a1 C T 2: 27,864,727 (GRCm39) A737V unknown Het
Dcaf7 T C 11: 105,945,684 (GRCm39) probably benign Het
Dnah9 T G 11: 65,818,427 (GRCm39) I3304L probably benign Het
Dpp10 T A 1: 123,304,376 (GRCm39) H508L probably benign Het
Dync1i1 A G 6: 5,767,034 (GRCm39) D86G probably benign Het
Enpp7 T C 11: 118,883,166 (GRCm39) probably null Het
Fbxw9 C A 8: 85,792,682 (GRCm39) probably null Het
Foxred2 A G 15: 77,829,777 (GRCm39) probably null Het
Gas2l2 C T 11: 83,315,957 (GRCm39) R254H probably damaging Het
Gatad2b C T 3: 90,249,198 (GRCm39) L79F possibly damaging Het
Igf1r A T 7: 67,839,781 (GRCm39) D696V probably benign Het
Kcnk5 A G 14: 20,196,580 (GRCm39) I96T probably damaging Het
Mcm10 T C 2: 5,006,092 (GRCm39) T417A probably benign Het
Mesp2 T C 7: 79,461,145 (GRCm39) S157P probably benign Het
Naca A G 10: 127,876,152 (GRCm39) probably benign Het
Or5t17 A T 2: 86,832,417 (GRCm39) M35L probably benign Het
Osgepl1 A G 1: 53,359,270 (GRCm39) T260A probably benign Het
Otop1 T C 5: 38,435,170 (GRCm39) probably null Het
Pdk1 T C 2: 71,726,096 (GRCm39) S335P probably damaging Het
Phkb A G 8: 86,668,987 (GRCm39) N338S probably benign Het
Pogz G A 3: 94,763,410 (GRCm39) V61I probably benign Het
Ppp4r1 A G 17: 66,147,942 (GRCm39) Y928C probably damaging Het
Rab17 T C 1: 90,886,940 (GRCm39) E160G probably damaging Het
Rasgrp3 T A 17: 75,803,412 (GRCm39) F70Y probably benign Het
Rere T A 4: 150,594,483 (GRCm39) N364K unknown Het
Ryr1 A T 7: 28,703,944 (GRCm39) probably benign Het
Sae1 A G 7: 16,104,273 (GRCm39) V112A probably damaging Het
Serpinb6d C T 13: 33,855,372 (GRCm39) H349Y probably benign Het
Slc12a1 T C 2: 125,012,596 (GRCm39) V286A probably damaging Het
Smad3 A T 9: 63,575,009 (GRCm39) probably null Het
Sox8 T A 17: 25,787,963 (GRCm39) D162V probably damaging Het
Sptbn1 A G 11: 30,087,239 (GRCm39) F1067L probably damaging Het
Tmprss3 T C 17: 31,409,981 (GRCm39) Y211C probably damaging Het
Top2b T C 14: 16,409,166 (GRCm38) probably benign Het
Tpp1 A T 7: 105,396,168 (GRCm39) H510Q probably benign Het
Ugcg T A 4: 59,218,587 (GRCm39) probably benign Het
Vmn2r96 T A 17: 18,818,376 (GRCm39) I651N probably benign Het
Wdr25 A T 12: 108,864,007 (GRCm39) K51* probably null Het
Other mutations in Lrrc8c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00538:Lrrc8c APN 5 105,755,076 (GRCm39) missense probably damaging 0.99
IGL00736:Lrrc8c APN 5 105,754,980 (GRCm39) missense probably damaging 1.00
IGL00822:Lrrc8c APN 5 105,756,174 (GRCm39) missense probably benign 0.04
IGL02009:Lrrc8c APN 5 105,755,257 (GRCm39) missense probably damaging 1.00
IGL02156:Lrrc8c APN 5 105,755,359 (GRCm39) missense probably damaging 1.00
IGL02266:Lrrc8c APN 5 105,756,114 (GRCm39) missense probably benign 0.30
IGL02268:Lrrc8c APN 5 105,755,764 (GRCm39) missense probably damaging 1.00
IGL02487:Lrrc8c APN 5 105,754,457 (GRCm39) missense probably benign
IGL02536:Lrrc8c APN 5 105,755,038 (GRCm39) missense probably benign 0.00
IGL02860:Lrrc8c APN 5 105,727,481 (GRCm39) splice site probably benign
IGL03395:Lrrc8c APN 5 105,754,495 (GRCm39) missense probably benign
Hand_grenade UTSW 5 105,754,954 (GRCm39) missense probably damaging 1.00
Horseshoe UTSW 5 105,755,488 (GRCm39) missense probably damaging 1.00
P0014:Lrrc8c UTSW 5 105,755,110 (GRCm39) missense probably benign 0.06
PIT4504001:Lrrc8c UTSW 5 105,756,403 (GRCm39) missense probably benign
PIT4651001:Lrrc8c UTSW 5 105,756,189 (GRCm39) missense probably benign 0.04
R0196:Lrrc8c UTSW 5 105,754,636 (GRCm39) missense probably benign 0.18
R0454:Lrrc8c UTSW 5 105,754,965 (GRCm39) missense probably damaging 1.00
R0565:Lrrc8c UTSW 5 105,754,894 (GRCm39) missense probably damaging 0.98
R0673:Lrrc8c UTSW 5 105,755,544 (GRCm39) missense probably damaging 0.99
R0722:Lrrc8c UTSW 5 105,727,414 (GRCm39) missense probably damaging 1.00
R0815:Lrrc8c UTSW 5 105,756,400 (GRCm39) missense probably damaging 1.00
R1177:Lrrc8c UTSW 5 105,754,702 (GRCm39) missense probably benign 0.40
R1411:Lrrc8c UTSW 5 105,756,045 (GRCm39) missense probably damaging 0.96
R1486:Lrrc8c UTSW 5 105,755,395 (GRCm39) missense probably damaging 1.00
R1551:Lrrc8c UTSW 5 105,756,090 (GRCm39) missense probably damaging 1.00
R1662:Lrrc8c UTSW 5 105,754,623 (GRCm39) missense probably benign 0.22
R1714:Lrrc8c UTSW 5 105,755,157 (GRCm39) missense possibly damaging 0.93
R1770:Lrrc8c UTSW 5 105,754,603 (GRCm39) missense probably damaging 1.00
R2104:Lrrc8c UTSW 5 105,755,224 (GRCm39) missense possibly damaging 0.85
R2139:Lrrc8c UTSW 5 105,754,558 (GRCm39) missense probably damaging 1.00
R4425:Lrrc8c UTSW 5 105,755,755 (GRCm39) missense probably benign 0.22
R4670:Lrrc8c UTSW 5 105,756,240 (GRCm39) missense probably benign
R4897:Lrrc8c UTSW 5 105,755,955 (GRCm39) missense probably benign 0.01
R4968:Lrrc8c UTSW 5 105,754,993 (GRCm39) missense probably damaging 1.00
R5114:Lrrc8c UTSW 5 105,755,349 (GRCm39) missense probably damaging 1.00
R5580:Lrrc8c UTSW 5 105,755,553 (GRCm39) missense probably benign 0.00
R5804:Lrrc8c UTSW 5 105,727,423 (GRCm39) missense possibly damaging 0.88
R5918:Lrrc8c UTSW 5 105,756,117 (GRCm39) missense possibly damaging 0.68
R6293:Lrrc8c UTSW 5 105,754,612 (GRCm39) missense probably damaging 1.00
R6303:Lrrc8c UTSW 5 105,756,475 (GRCm39) missense probably benign 0.31
R6304:Lrrc8c UTSW 5 105,756,475 (GRCm39) missense probably benign 0.31
R7271:Lrrc8c UTSW 5 105,755,853 (GRCm39) missense probably benign 0.02
R7341:Lrrc8c UTSW 5 105,755,133 (GRCm39) missense probably damaging 1.00
R7380:Lrrc8c UTSW 5 105,755,701 (GRCm39) missense possibly damaging 0.71
R7630:Lrrc8c UTSW 5 105,755,568 (GRCm39) missense probably damaging 0.99
R7789:Lrrc8c UTSW 5 105,755,066 (GRCm39) missense probably damaging 1.00
R8128:Lrrc8c UTSW 5 105,755,488 (GRCm39) missense probably damaging 1.00
R8229:Lrrc8c UTSW 5 105,754,402 (GRCm39) missense probably benign 0.00
R8247:Lrrc8c UTSW 5 105,756,310 (GRCm39) missense probably damaging 1.00
R8248:Lrrc8c UTSW 5 105,755,733 (GRCm39) missense probably benign
R8890:Lrrc8c UTSW 5 105,754,954 (GRCm39) missense probably damaging 1.00
R9254:Lrrc8c UTSW 5 105,756,356 (GRCm39) nonsense probably null
R9379:Lrrc8c UTSW 5 105,756,356 (GRCm39) nonsense probably null
R9416:Lrrc8c UTSW 5 105,756,163 (GRCm39) missense possibly damaging 0.95
Posted On 2015-04-16