Incidental Mutation 'R0565:Lrrc8c'
ID 46114
Institutional Source Beutler Lab
Gene Symbol Lrrc8c
Ensembl Gene ENSMUSG00000054720
Gene Name leucine rich repeat containing 8 family, member C
Synonyms E430036I04Rik
MMRRC Submission 038756-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0565 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 105667254-105760884 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 105754894 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 223 (D223A)
Ref Sequence ENSEMBL: ENSMUSP00000066015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067924] [ENSMUST00000153754]
AlphaFold Q8R502
Predicted Effect probably damaging
Transcript: ENSMUST00000067924
AA Change: D223A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000066015
Gene: ENSMUSG00000054720
AA Change: D223A

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 0.5158 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.8%
  • 20x: 93.6%
Validation Efficiency 100% (73/73)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A T 16: 4,682,200 (GRCm39) H1010L probably benign Het
A2ml1 C A 6: 128,545,706 (GRCm39) E474* probably null Het
Agtr1b T C 3: 20,369,838 (GRCm39) H256R probably damaging Het
Amacr C T 15: 10,982,032 (GRCm39) A46V possibly damaging Het
Atosb A T 4: 43,034,647 (GRCm39) probably benign Het
Cabp5 A T 7: 13,135,260 (GRCm39) M67L probably damaging Het
Caskin2 T C 11: 115,691,842 (GRCm39) E981G probably damaging Het
Ccdc88a A G 11: 29,411,042 (GRCm39) probably benign Het
Cd180 A G 13: 102,839,382 (GRCm39) probably benign Het
Cd200l1 T A 16: 45,264,536 (GRCm39) probably benign Het
Cemip G A 7: 83,613,318 (GRCm39) H627Y probably damaging Het
Cep131 G T 11: 119,964,588 (GRCm39) H289Q probably damaging Het
Cep350 G A 1: 155,836,941 (GRCm39) probably benign Het
Cfap52 A T 11: 67,840,425 (GRCm39) C169S probably benign Het
Cps1 A T 1: 67,205,608 (GRCm39) T544S possibly damaging Het
Cul7 T C 17: 46,962,929 (GRCm39) S187P probably damaging Het
Dhx40 C A 11: 86,661,993 (GRCm39) R688L probably damaging Het
E330034G19Rik C A 14: 24,356,985 (GRCm39) Q174K probably benign Het
Efna5 T C 17: 63,188,031 (GRCm39) Y32C probably damaging Het
Ethe1 A G 7: 24,307,314 (GRCm39) H176R probably benign Het
Exoc3 A G 13: 74,330,394 (GRCm39) probably null Het
Fam135b T A 15: 71,362,686 (GRCm39) N232Y possibly damaging Het
Fndc9 C T 11: 46,128,984 (GRCm39) L168F probably damaging Het
Fpr-rs3 G A 17: 20,844,283 (GRCm39) A286V probably damaging Het
Immt T A 6: 71,823,467 (GRCm39) probably benign Het
Ipo7 T C 7: 109,648,800 (GRCm39) probably benign Het
Ipo8 A T 6: 148,688,221 (GRCm39) L747H probably damaging Het
Ireb2 A T 9: 54,807,267 (GRCm39) N610Y probably damaging Het
Irs2 A G 8: 11,054,592 (GRCm39) V1280A probably damaging Het
Kcnj3 T A 2: 55,485,276 (GRCm39) M458K probably benign Het
Kl A G 5: 150,904,409 (GRCm39) K387R possibly damaging Het
L3mbtl2 C A 15: 81,568,487 (GRCm39) probably benign Het
Lamb1 A C 12: 31,348,914 (GRCm39) I649L probably benign Het
Lipm A C 19: 34,093,906 (GRCm39) L274F probably benign Het
Lrfn3 A G 7: 30,060,216 (GRCm39) V3A probably benign Het
Ltn1 C A 16: 87,212,898 (GRCm39) K554N probably benign Het
Mertk T C 2: 128,613,403 (GRCm39) I473T probably benign Het
Mfsd12 C A 10: 81,197,243 (GRCm39) N245K probably benign Het
Mmp16 A G 4: 17,987,705 (GRCm39) D89G probably damaging Het
Myo5a T A 9: 75,087,394 (GRCm39) N1083K probably benign Het
Ncapd3 C T 9: 26,999,294 (GRCm39) A1290V probably benign Het
Nefm A G 14: 68,362,070 (GRCm39) S65P probably damaging Het
Nt5c2 C T 19: 46,886,064 (GRCm39) R220H probably damaging Het
Or4c102 T A 2: 88,422,353 (GRCm39) D68E probably benign Het
Osbpl1a A T 18: 12,892,501 (GRCm39) S438R probably damaging Het
Pcdhb5 T C 18: 37,453,820 (GRCm39) S67P possibly damaging Het
Per3 A T 4: 151,118,409 (GRCm39) I228N probably damaging Het
Pnpla7 T G 2: 24,870,129 (GRCm39) probably benign Het
Ppp1r15b G T 1: 133,064,391 (GRCm39) probably benign Het
Psmd2 G T 16: 20,479,176 (GRCm39) L678F probably null Het
Ptch2 A G 4: 116,963,340 (GRCm39) probably benign Het
Ranbp2 T A 10: 58,312,158 (GRCm39) D959E probably benign Het
Rph3al C T 11: 75,724,227 (GRCm39) probably null Het
Sec31b T A 19: 44,512,992 (GRCm39) E499V probably damaging Het
Sel1l T C 12: 91,778,663 (GRCm39) I667M probably benign Het
Sel1l C A 12: 91,780,719 (GRCm39) V641L possibly damaging Het
Slc7a1 T A 5: 148,288,879 (GRCm39) I123F probably damaging Het
Smarca2 G A 19: 26,659,275 (GRCm39) R855Q possibly damaging Het
Sphk1 G T 11: 116,427,184 (GRCm39) probably benign Het
Spink12 C A 18: 44,237,755 (GRCm39) S11* probably null Het
Sstr2 A T 11: 113,516,445 (GRCm39) I342F probably benign Het
Stxbp1 T C 2: 32,709,860 (GRCm39) T78A probably benign Het
Trim11 T A 11: 58,881,410 (GRCm39) S434R probably damaging Het
Ubr2 T C 17: 47,266,812 (GRCm39) E1113G probably damaging Het
Upb1 T A 10: 75,264,188 (GRCm39) probably benign Het
Vit T A 17: 78,932,266 (GRCm39) C458S probably damaging Het
Vmn1r58 T C 7: 5,414,165 (GRCm39) I22V probably benign Het
Vps25 T C 11: 101,149,731 (GRCm39) probably benign Het
Wbp2 G T 11: 115,973,211 (GRCm39) D65E possibly damaging Het
Wdr72 A G 9: 74,124,588 (GRCm39) D980G probably benign Het
Xkr8 A C 4: 132,458,228 (GRCm39) 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
IGL02672:Lrrc8c APN 5 105,755,224 (GRCm39) missense possibly damaging 0.85
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
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
Predicted Primers PCR Primer
(F):5'- TCAACCAGATGTGCTACGAGCGAG -3'
(R):5'- TGGAAACCAGGGCACTGTTGTAGG -3'

Sequencing Primer
(F):5'- ATGCTCTGTAGCAACTTCTGG -3'
(R):5'- CACTGTTGTAGGCAATGATGATTAG -3'
Posted On 2013-06-11