Incidental Mutation 'R5616:Lrrc8a'
ID 439519
Institutional Source Beutler Lab
Gene Symbol Lrrc8a
Ensembl Gene ENSMUSG00000007476
Gene Name leucine rich repeat containing 8A VRAC subunit A
Synonyms ebo, Lrrc8, SWELL1
MMRRC Submission 043159-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5616 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 30127781-30153802 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30145366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 60 (V60A)
Ref Sequence ENSEMBL: ENSMUSP00000139038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095078] [ENSMUST00000113654] [ENSMUST00000139454]
AlphaFold Q80WG5
Predicted Effect probably benign
Transcript: ENSMUST00000095078
AA Change: V60A

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000092690
Gene: ENSMUSG00000007476
AA Change: V60A

DomainStartEndE-ValueType
Pfam:Pannexin_like 1 340 1.4e-146 PFAM
low complexity region 445 455 N/A INTRINSIC
internal_repeat_1 461 526 7.6e-5 PROSPERO
low complexity region 540 558 N/A INTRINSIC
LRR 590 613 5.41e0 SMART
LRR 614 636 3.18e2 SMART
LRR 638 660 6.78e1 SMART
LRR_TYP 661 684 1.06e-4 SMART
LRR 685 706 1.15e1 SMART
LRR_TYP 707 730 1.92e-2 SMART
LRR 731 751 1.81e2 SMART
LRR 753 776 2.02e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113654
AA Change: V60A

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000109284
Gene: ENSMUSG00000007476
AA Change: V60A

DomainStartEndE-ValueType
Pfam:DUF3733 1 65 3.3e-32 PFAM
Pfam:DUF3733 97 156 2e-22 PFAM
transmembrane domain 320 342 N/A INTRINSIC
low complexity region 445 455 N/A INTRINSIC
internal_repeat_1 461 526 7.6e-5 PROSPERO
low complexity region 540 558 N/A INTRINSIC
LRR 590 613 5.41e0 SMART
LRR 614 636 3.18e2 SMART
LRR 638 660 6.78e1 SMART
LRR_TYP 661 684 1.06e-4 SMART
LRR 685 706 1.15e1 SMART
LRR_TYP 707 730 1.92e-2 SMART
LRR 731 751 1.81e2 SMART
LRR 753 776 2.02e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139454
AA Change: V60A

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000139038
Gene: ENSMUSG00000099041
AA Change: V60A

DomainStartEndE-ValueType
Pfam:DUF3733 1 65 3.3e-32 PFAM
Pfam:DUF3733 97 156 2e-22 PFAM
transmembrane domain 320 342 N/A INTRINSIC
low complexity region 445 455 N/A INTRINSIC
internal_repeat_1 461 526 7.6e-5 PROSPERO
low complexity region 540 558 N/A INTRINSIC
LRR 590 613 5.41e0 SMART
LRR 614 636 3.18e2 SMART
LRR 638 660 6.78e1 SMART
LRR_TYP 661 684 1.06e-4 SMART
LRR 685 706 1.15e1 SMART
LRR_TYP 707 730 1.92e-2 SMART
LRR 731 751 1.81e2 SMART
LRR 753 776 2.02e-1 SMART
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. This family member is a putative four-pass transmembrane protein that plays a role in B cell development. Defects in this gene cause autosomal dominant non-Bruton type agammaglobulinemia, an immunodeficiency disease resulting from defects in B cell maturation. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous for a knock-out allele exhibit prenatal lethality and premature death, growth retardation, sterility, multiple tissue abnormalities, a severe block in early thymic development, and impaired peripheral T cell function. B cell development is modestly impaired but B cell function is normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd3 A T 3: 121,566,009 (GRCm39) D443E probably benign Het
Arhgef5 A G 6: 43,252,874 (GRCm39) D1037G probably benign Het
B3glct T A 5: 149,653,399 (GRCm39) L148* probably null Het
Cacna1e G A 1: 154,317,940 (GRCm39) P1481S probably damaging Het
Cacna1h C A 17: 25,596,641 (GRCm39) R117L probably damaging Het
Cct6b A T 11: 82,632,175 (GRCm39) V271E probably damaging Het
Cenpf A G 1: 189,389,483 (GRCm39) S1450P probably damaging Het
Cul1 G A 6: 47,500,722 (GRCm39) R707H probably damaging Het
Dcakd A G 11: 102,885,831 (GRCm39) L191P possibly damaging Het
Dhx32 T C 7: 133,322,957 (GRCm39) *612W probably null Het
Disp1 T A 1: 182,869,913 (GRCm39) T836S probably benign Het
Dppa4 T A 16: 48,111,393 (GRCm39) V126D probably damaging Het
Fam98b A G 2: 117,098,267 (GRCm39) T246A possibly damaging Het
Fkbp4 A T 6: 128,410,517 (GRCm39) V273E probably damaging Het
Gpr31b A G 17: 13,270,831 (GRCm39) Y113H probably damaging Het
Gpr33 T C 12: 52,070,377 (GRCm39) I221V probably damaging Het
Klhl1 A G 14: 96,755,729 (GRCm39) F9L probably benign Het
Larp4b T A 13: 9,208,695 (GRCm39) N449K probably damaging Het
Loxhd1 T C 18: 77,492,647 (GRCm39) S1363P probably damaging Het
Matn3 A G 12: 8,998,195 (GRCm39) H51R probably benign Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mtrf1 T C 14: 79,638,885 (GRCm39) C6R possibly damaging Het
Myh6 T C 14: 55,194,038 (GRCm39) S784G probably benign Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Nipal3 T C 4: 135,179,715 (GRCm39) Y401C probably benign Het
Pcdhb20 A G 18: 37,637,585 (GRCm39) E37G probably damaging Het
Pelp1 G A 11: 70,285,688 (GRCm39) P727S possibly damaging Het
Prkca T C 11: 107,869,169 (GRCm39) D472G possibly damaging Het
Ptprg A G 14: 12,122,120 (GRCm38) H328R probably benign Het
Rtl1 C T 12: 109,559,173 (GRCm39) E889K unknown Het
Rubcn T C 16: 32,647,293 (GRCm39) D715G possibly damaging Het
Snurf C T 7: 59,649,133 (GRCm39) E15K possibly damaging Het
Sptbn5 G A 2: 119,876,965 (GRCm39) probably benign Het
Srp72 T G 5: 77,135,781 (GRCm39) L237R probably damaging Het
Syne3 T C 12: 104,921,937 (GRCm39) E406G probably damaging Het
Tgm2 A G 2: 157,970,640 (GRCm39) S340P probably damaging Het
Trim41 GCCTAGGCGCCCA G 11: 48,698,192 (GRCm39) probably benign Het
Tsc22d1 T C 14: 76,653,657 (GRCm39) probably benign Het
Tsc22d2 G T 3: 58,324,583 (GRCm39) probably benign Het
Vmn1r42 T C 6: 89,822,084 (GRCm39) I162V possibly damaging Het
Vmn2r59 A G 7: 41,708,191 (GRCm39) probably null Het
Wnt3 T C 11: 103,703,596 (GRCm39) probably null Het
Other mutations in Lrrc8a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00693:Lrrc8a APN 2 30,145,327 (GRCm39) missense probably benign 0.32
IGL01161:Lrrc8a APN 2 30,145,822 (GRCm39) missense probably damaging 1.00
IGL01419:Lrrc8a APN 2 30,147,111 (GRCm39) missense probably benign 0.09
IGL01757:Lrrc8a APN 2 30,145,537 (GRCm39) missense possibly damaging 0.81
IGL02390:Lrrc8a APN 2 30,146,713 (GRCm39) missense probably damaging 1.00
IGL02608:Lrrc8a APN 2 30,146,311 (GRCm39) missense possibly damaging 0.91
IGL02938:Lrrc8a APN 2 30,145,698 (GRCm39) missense probably damaging 1.00
IGL02960:Lrrc8a APN 2 30,147,025 (GRCm39) missense probably damaging 1.00
IGL03139:Lrrc8a APN 2 30,145,683 (GRCm39) missense probably damaging 1.00
IGL03166:Lrrc8a APN 2 30,145,377 (GRCm39) missense probably benign
R0033:Lrrc8a UTSW 2 30,145,357 (GRCm39) missense probably damaging 1.00
R0033:Lrrc8a UTSW 2 30,145,357 (GRCm39) missense probably damaging 1.00
R0276:Lrrc8a UTSW 2 30,146,800 (GRCm39) missense possibly damaging 0.54
R0432:Lrrc8a UTSW 2 30,147,079 (GRCm39) missense probably damaging 1.00
R0751:Lrrc8a UTSW 2 30,146,362 (GRCm39) missense possibly damaging 0.82
R1924:Lrrc8a UTSW 2 30,145,262 (GRCm39) missense probably damaging 1.00
R2029:Lrrc8a UTSW 2 30,146,661 (GRCm39) missense probably damaging 1.00
R3852:Lrrc8a UTSW 2 30,151,972 (GRCm39) missense probably benign 0.30
R4898:Lrrc8a UTSW 2 30,147,214 (GRCm39) missense probably benign 0.00
R5175:Lrrc8a UTSW 2 30,145,524 (GRCm39) missense probably damaging 1.00
R5874:Lrrc8a UTSW 2 30,147,148 (GRCm39) missense probably damaging 1.00
R6228:Lrrc8a UTSW 2 30,146,565 (GRCm39) missense possibly damaging 0.82
R6406:Lrrc8a UTSW 2 30,147,103 (GRCm39) missense possibly damaging 0.56
R6456:Lrrc8a UTSW 2 30,145,486 (GRCm39) missense probably benign 0.14
R6833:Lrrc8a UTSW 2 30,145,659 (GRCm39) missense possibly damaging 0.92
R6834:Lrrc8a UTSW 2 30,145,659 (GRCm39) missense possibly damaging 0.92
R6945:Lrrc8a UTSW 2 30,146,239 (GRCm39) missense probably damaging 1.00
R7675:Lrrc8a UTSW 2 30,145,680 (GRCm39) missense probably damaging 1.00
R8500:Lrrc8a UTSW 2 30,146,208 (GRCm39) missense possibly damaging 0.65
R8528:Lrrc8a UTSW 2 30,145,557 (GRCm39) missense probably damaging 1.00
R8734:Lrrc8a UTSW 2 30,146,619 (GRCm39) missense probably benign 0.12
R8879:Lrrc8a UTSW 2 30,146,310 (GRCm39) missense probably benign 0.16
R9112:Lrrc8a UTSW 2 30,145,782 (GRCm39) missense probably damaging 0.99
R9130:Lrrc8a UTSW 2 30,147,042 (GRCm39) missense possibly damaging 0.82
R9456:Lrrc8a UTSW 2 30,145,663 (GRCm39) missense probably damaging 1.00
Z1177:Lrrc8a UTSW 2 30,146,325 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTGGTCCCTTTCAGGTTAAAC -3'
(R):5'- GGGGAAGTACTTGGCAAACC -3'

Sequencing Primer
(F):5'- CAGGTTAAACCATGATTCCGGTGAC -3'
(R):5'- AACCAATGCAGGCGGTTCTC -3'
Posted On 2016-11-08