Incidental Mutation 'IGL03038:Lrrc8b'
ID 408806
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc8b
Ensembl Gene ENSMUSG00000070639
Gene Name leucine rich repeat containing 8 family, member B
Synonyms R75581, 2210408K08Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # IGL03038
Quality Score
Status
Chromosome 5
Chromosomal Location 105563641-105637940 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105629358 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 568 (L568P)
Ref Sequence ENSEMBL: ENSMUSP00000108327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112707]
AlphaFold Q5DU41
Predicted Effect probably damaging
Transcript: ENSMUST00000112707
AA Change: L568P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108327
Gene: ENSMUSG00000070639
AA Change: L568P

DomainStartEndE-ValueType
Pfam:Pannexin_like 1 334 2.9e-133 PFAM
LRR 509 536 5.27e1 SMART
LRR 584 607 2.03e1 SMART
LRR 632 654 1.97e1 SMART
LRR_TYP 655 678 4.79e-3 SMART
LRR 679 700 3.09e1 SMART
LRR_TYP 701 724 4.17e-3 SMART
LRR 747 770 2.17e-1 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb T C 7: 131,030,185 (GRCm39) Y111H probably damaging Het
Arhgef6 C T X: 56,290,966 (GRCm39) V262I probably benign Het
Arsk C A 13: 76,213,632 (GRCm39) probably benign Het
Ces1b T C 8: 93,793,680 (GRCm39) E303G probably benign Het
Chst9 T C 18: 15,628,360 (GRCm39) Q55R probably benign Het
Cntnap3 A T 13: 64,888,839 (GRCm39) D1153E possibly damaging Het
D130043K22Rik A G 13: 25,063,602 (GRCm39) E681G probably damaging Het
Fhad1 T C 4: 141,729,805 (GRCm39) E66G probably benign Het
Flii T C 11: 60,615,658 (GRCm39) T69A probably benign Het
Foxl1 A C 8: 121,855,158 (GRCm39) E153A probably damaging Het
Gstm3 T C 3: 107,873,485 (GRCm39) D162G possibly damaging Het
Gtpbp3 G A 8: 71,941,947 (GRCm39) V96I possibly damaging Het
Insig2 G A 1: 121,247,403 (GRCm39) T56I probably damaging Het
Kif13a A G 13: 46,926,314 (GRCm39) L264P probably damaging Het
Lama3 T G 18: 12,552,307 (GRCm39) C420G probably damaging Het
Lrp2 C T 2: 69,305,808 (GRCm39) G2918S probably damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Malrd1 G A 2: 16,132,778 (GRCm39) D1900N unknown Het
Mastl C A 2: 23,030,627 (GRCm39) probably benign Het
Med24 T G 11: 98,607,010 (GRCm39) T276P possibly damaging Het
Naip1 A C 13: 100,573,841 (GRCm39) Y239* probably null Het
Nhsl2 A G X: 101,122,491 (GRCm39) K765E probably damaging Het
Npy A G 6: 49,800,588 (GRCm39) N4S probably benign Het
Nsun2 A G 13: 69,767,703 (GRCm39) D188G probably damaging Het
Or6c88 A G 10: 129,406,790 (GRCm39) T89A probably benign Het
Pde1a C A 2: 79,718,290 (GRCm39) probably benign Het
Pik3cb G A 9: 98,947,650 (GRCm39) A509V probably damaging Het
Pou2f2 C T 7: 24,796,577 (GRCm39) S315N probably damaging Het
Prdm2 A C 4: 142,860,571 (GRCm39) S906R probably damaging Het
Prkaca C A 8: 84,721,580 (GRCm39) Q300K probably benign Het
Prox2 T C 12: 85,142,038 (GRCm39) D55G possibly damaging Het
Ryr3 T A 2: 112,498,465 (GRCm39) T3612S possibly damaging Het
S1pr1 T A 3: 115,506,343 (GRCm39) I84L possibly damaging Het
Slc47a1 C T 11: 61,243,918 (GRCm39) V384M probably benign Het
Slc6a20b T C 9: 123,426,394 (GRCm39) N497S possibly damaging Het
Spen C A 4: 141,265,550 (GRCm39) R3L unknown Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Ttll6 T C 11: 96,042,786 (GRCm39) F444S probably damaging Het
Vwce T A 19: 10,624,035 (GRCm39) Y309N possibly damaging Het
Vwf T C 6: 125,581,120 (GRCm39) L586P possibly damaging Het
Wdr35 T C 12: 9,024,185 (GRCm39) probably benign Het
Other mutations in Lrrc8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00335:Lrrc8b APN 5 105,628,365 (GRCm39) missense probably damaging 0.96
IGL00519:Lrrc8b APN 5 105,629,591 (GRCm39) missense possibly damaging 0.82
IGL01732:Lrrc8b APN 5 105,633,826 (GRCm39) missense probably damaging 1.00
IGL01799:Lrrc8b APN 5 105,633,757 (GRCm39) missense probably benign
IGL02005:Lrrc8b APN 5 105,628,920 (GRCm39) missense probably benign 0.22
IGL02205:Lrrc8b APN 5 105,629,703 (GRCm39) missense probably benign 0.07
IGL03076:Lrrc8b APN 5 105,629,415 (GRCm39) missense probably damaging 1.00
sospecho UTSW 5 105,628,622 (GRCm39) missense probably damaging 1.00
Whiff UTSW 5 105,628,137 (GRCm39) missense possibly damaging 0.80
IGL02796:Lrrc8b UTSW 5 105,629,211 (GRCm39) missense probably damaging 1.00
R0647:Lrrc8b UTSW 5 105,628,473 (GRCm39) missense possibly damaging 0.69
R0722:Lrrc8b UTSW 5 105,627,978 (GRCm39) missense possibly damaging 0.89
R1382:Lrrc8b UTSW 5 105,628,749 (GRCm39) missense probably damaging 1.00
R1437:Lrrc8b UTSW 5 105,629,568 (GRCm39) missense probably damaging 1.00
R1801:Lrrc8b UTSW 5 105,628,689 (GRCm39) missense probably damaging 1.00
R1888:Lrrc8b UTSW 5 105,629,217 (GRCm39) missense probably benign 0.12
R1888:Lrrc8b UTSW 5 105,629,217 (GRCm39) missense probably benign 0.12
R2169:Lrrc8b UTSW 5 105,629,753 (GRCm39) missense probably damaging 0.99
R4514:Lrrc8b UTSW 5 105,627,819 (GRCm39) missense probably damaging 1.00
R4898:Lrrc8b UTSW 5 105,628,080 (GRCm39) missense probably benign 0.19
R5243:Lrrc8b UTSW 5 105,628,812 (GRCm39) missense probably damaging 1.00
R5264:Lrrc8b UTSW 5 105,628,118 (GRCm39) missense probably damaging 0.98
R5424:Lrrc8b UTSW 5 105,628,569 (GRCm39) missense probably damaging 1.00
R5513:Lrrc8b UTSW 5 105,633,850 (GRCm39) missense probably damaging 1.00
R5632:Lrrc8b UTSW 5 105,628,163 (GRCm39) missense possibly damaging 0.81
R5799:Lrrc8b UTSW 5 105,629,208 (GRCm39) missense probably benign 0.19
R5800:Lrrc8b UTSW 5 105,629,208 (GRCm39) missense probably benign 0.19
R6637:Lrrc8b UTSW 5 105,628,137 (GRCm39) missense possibly damaging 0.80
R7249:Lrrc8b UTSW 5 105,629,133 (GRCm39) missense probably benign 0.23
R7253:Lrrc8b UTSW 5 105,629,522 (GRCm39) missense probably benign 0.01
R7558:Lrrc8b UTSW 5 105,629,577 (GRCm39) missense probably damaging 1.00
R8077:Lrrc8b UTSW 5 105,627,883 (GRCm39) missense possibly damaging 0.48
R8423:Lrrc8b UTSW 5 105,628,622 (GRCm39) missense probably damaging 1.00
R8480:Lrrc8b UTSW 5 105,633,802 (GRCm39) missense probably damaging 1.00
R8765:Lrrc8b UTSW 5 105,629,133 (GRCm39) missense probably benign
R8841:Lrrc8b UTSW 5 105,628,188 (GRCm39) missense probably benign 0.00
R8912:Lrrc8b UTSW 5 105,629,424 (GRCm39) missense probably damaging 1.00
R9040:Lrrc8b UTSW 5 105,628,161 (GRCm39) missense probably benign 0.02
R9432:Lrrc8b UTSW 5 105,633,888 (GRCm39) missense probably benign 0.07
Posted On 2016-08-02