Incidental Mutation 'R6456:Lrrc8a'
ID 520148
Institutional Source Beutler Lab
Gene Symbol Lrrc8a
Ensembl Gene ENSMUSG00000007476
Gene Name leucine rich repeat containing 8A VRAC subunit A
Synonyms ebo, Lrrc8, SWELL1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6456 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 30127781-30153802 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30145486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 100 (D100G)
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: D100G

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000092690
Gene: ENSMUSG00000007476
AA Change: D100G

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: D100G

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000109284
Gene: ENSMUSG00000007476
AA Change: D100G

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: D100G

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000139038
Gene: ENSMUSG00000099041
AA Change: D100G

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.8%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,240,474 (GRCm39) H779L possibly damaging Het
Abca7 T C 10: 79,850,984 (GRCm39) V2097A probably null Het
Adam8 A G 7: 139,566,701 (GRCm39) S524P possibly damaging Het
Anapc2 T C 2: 25,170,207 (GRCm39) M575T probably damaging Het
Arhgap42 T A 9: 9,005,823 (GRCm39) I736L probably benign Het
AU040320 A G 4: 126,736,284 (GRCm39) N789S probably benign Het
Bmi1 A G 2: 18,687,058 (GRCm39) Y46C probably damaging Het
Brd10 G A 19: 29,693,914 (GRCm39) P1860S possibly damaging Het
Ccdc125 T C 13: 100,832,817 (GRCm39) S465P possibly damaging Het
Cd180 C T 13: 102,839,344 (GRCm39) L76F probably damaging Het
Cep135 T C 5: 76,739,571 (GRCm39) probably benign Het
Col6a5 G A 9: 105,822,676 (GRCm39) T227I unknown Het
Cyp4a29 G T 4: 115,108,381 (GRCm39) M368I probably benign Het
Ddx28 T A 8: 106,737,000 (GRCm39) I353F possibly damaging Het
Dhx40 G A 11: 86,675,800 (GRCm39) T198M probably damaging Het
Dnai4 A C 4: 102,906,746 (GRCm39) M689R probably benign Het
Dync2i2 T C 2: 29,922,779 (GRCm39) S323G probably benign Het
Fat4 G A 3: 39,038,128 (GRCm39) V3927M possibly damaging Het
Garin1b A G 6: 29,334,045 (GRCm39) N299S probably benign Het
Gm10226 G T 17: 21,910,932 (GRCm39) G56* probably null Het
H2-T15 A T 17: 36,367,502 (GRCm39) Y279N probably damaging Het
Itsn2 T G 12: 4,679,923 (GRCm39) probably benign Het
Madd T C 2: 91,008,536 (GRCm39) H122R probably benign Het
Mfsd4b3-ps C G 10: 39,823,316 (GRCm39) V315L probably benign Het
Mki67 C G 7: 135,301,204 (GRCm39) A1277P possibly damaging Het
Nlrp9b T A 7: 19,782,703 (GRCm39) N872K probably damaging Het
Npas1 T C 7: 16,195,851 (GRCm39) T274A probably benign Het
Nrm A T 17: 36,176,292 (GRCm39) probably null Het
Or10j2 A T 1: 173,098,105 (GRCm39) D121V probably damaging Het
Pdilt T A 7: 119,099,706 (GRCm39) L187F probably damaging Het
Pkdcc T C 17: 83,527,548 (GRCm39) I242T probably damaging Het
Plch2 C A 4: 155,077,459 (GRCm39) D535Y probably damaging Het
Pmpca T A 2: 26,285,179 (GRCm39) I468N probably damaging Het
Prpf4 T C 4: 62,332,869 (GRCm39) probably null Het
Rcc1 A G 4: 132,061,427 (GRCm39) S361P probably benign Het
Rigi T A 4: 40,213,838 (GRCm39) N607Y possibly damaging Het
Rnf213 A G 11: 119,350,792 (GRCm39) I3876V probably benign Het
Sall2 T A 14: 52,551,050 (GRCm39) Q715L probably damaging Het
Sall2 G A 14: 52,551,051 (GRCm39) Q713* probably null Het
Sin3a A G 9: 57,020,985 (GRCm39) S1004G possibly damaging Het
Sltm C T 9: 70,450,269 (GRCm39) T23M probably damaging Het
Spata31e2 T A 1: 26,724,250 (GRCm39) H310L probably damaging Het
Sspo A G 6: 48,428,740 (GRCm39) E385G probably benign Het
Syne3 G T 12: 104,906,963 (GRCm39) R775S possibly damaging Het
Szt2 A T 4: 118,233,894 (GRCm39) probably benign Het
Tlk2 T C 11: 105,112,099 (GRCm39) S151P probably benign Het
Trabd2b C T 4: 114,443,757 (GRCm39) R305C probably damaging Het
Ttc21b T C 2: 66,018,675 (GRCm39) Q1244R probably damaging Het
Vmn2r125 A G 4: 156,703,357 (GRCm39) N245S probably benign Het
Wdr64 G A 1: 175,613,175 (GRCm39) probably null Het
Wdr70 G A 15: 7,915,118 (GRCm39) T550M possibly damaging 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
R5616:Lrrc8a UTSW 2 30,145,366 (GRCm39) missense probably benign 0.09
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
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'- ACATCTCCATCGTCATGCTG -3'
(R):5'- AGTCGAAGCACTTGAGCAGG -3'

Sequencing Primer
(F):5'- CGTCATGCTGATGATTGCTGTC -3'
(R):5'- GCACTTGAGCAGGATAGACAC -3'
Posted On 2018-06-06