Incidental Mutation 'IGL00736:Lrrc8c'
ID 11840
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 # IGL00736
Quality Score
Status
Chromosome 5
Chromosomal Location 105667254-105760884 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 105754980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 252 (V252M)
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: V252M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066015
Gene: ENSMUSG00000054720
AA Change: V252M

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
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: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 A G 10: 77,158,324 (GRCm39) L41P probably damaging Het
Baz1b A G 5: 135,268,886 (GRCm39) Y1245C probably damaging Het
Dnajb7 T A 15: 81,291,774 (GRCm39) I188F probably benign Het
Dpf1 A T 7: 29,012,333 (GRCm39) K18* probably null Het
Drosha T A 15: 12,834,045 (GRCm39) Y50N unknown Het
Eif2s1 T A 12: 78,931,611 (GRCm39) probably benign Het
Gde1 T C 7: 118,297,925 (GRCm39) E97G probably damaging Het
Megf10 G A 18: 57,425,782 (GRCm39) R1056Q probably benign Het
Myo3b A C 2: 69,935,989 (GRCm39) probably benign Het
Ralbp1 T C 17: 66,171,718 (GRCm39) Y85C probably damaging Het
Serpini2 C T 3: 75,175,116 (GRCm39) M58I possibly damaging Het
Skor1 C A 9: 63,046,820 (GRCm39) Q892H probably damaging Het
Slc22a26 T C 19: 7,767,527 (GRCm39) Q292R possibly damaging Het
Smc1b T C 15: 85,013,901 (GRCm39) E90G possibly damaging Het
Zmym2 T C 14: 57,140,668 (GRCm39) V169A probably benign Het
Other mutations in Lrrc8c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00538:Lrrc8c APN 5 105,755,076 (GRCm39) missense probably damaging 0.99
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
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 2012-12-06