Incidental Mutation 'R9456:Lrrc8a'
ID 714570
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9456 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 30127781-30153802 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30145663 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 159 (I159N)
Ref Sequence ENSEMBL: ENSMUSP00000092690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095078] [ENSMUST00000113654] [ENSMUST00000139454]
AlphaFold Q80WG5
Predicted Effect probably damaging
Transcript: ENSMUST00000095078
AA Change: I159N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092690
Gene: ENSMUSG00000007476
AA Change: I159N

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 damaging
Transcript: ENSMUST00000113654
AA Change: I159N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109284
Gene: ENSMUSG00000007476
AA Change: I159N

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 damaging
Transcript: ENSMUST00000139454
AA Change: I159N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139038
Gene: ENSMUSG00000099041
AA Change: I159N

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.4%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd3 T C 18: 10,645,121 (GRCm39) D391G probably benign Het
Arhgdia A C 11: 120,470,068 (GRCm39) W202G probably damaging Het
Atp2a3 A T 11: 72,871,131 (GRCm39) D575V probably benign Het
Cep350 C A 1: 155,744,457 (GRCm39) V2121L probably benign Het
Clcn2 CCCGCCGCCGCCGCCGC CCCGCCGCCGCCGC 16: 20,534,702 (GRCm39) probably benign Het
Cldn9 A T 17: 23,902,556 (GRCm39) V23E probably damaging Het
Cltc G A 11: 86,593,237 (GRCm39) S1542F probably benign Het
Cmbl A G 15: 31,589,948 (GRCm39) D226G probably damaging Het
Dennd4b C T 3: 90,178,515 (GRCm39) T537I probably damaging Het
Dnah7b C A 1: 46,165,953 (GRCm39) D539E possibly damaging Het
Fam219a T C 4: 41,521,871 (GRCm39) T70A probably damaging Het
Fat4 T A 3: 38,942,571 (GRCm39) V488E possibly damaging Het
Gm3336 A G 8: 71,174,740 (GRCm39) *96W probably null Het
Hectd1 A G 12: 51,832,584 (GRCm39) I930T probably benign Het
Hmcn1 A T 1: 150,506,053 (GRCm39) C3824* probably null Het
Ift140 T C 17: 25,254,758 (GRCm39) F413L probably benign Het
Itfg1 A G 8: 86,565,566 (GRCm39) V90A probably benign Het
Jph4 A T 14: 55,351,090 (GRCm39) W309R probably damaging Het
Kdm2a C T 19: 4,393,141 (GRCm39) D405N Het
Klhl5 T C 5: 65,305,939 (GRCm39) F302S probably damaging Het
Klk1b8 T C 7: 43,453,177 (GRCm39) M256T probably benign Het
Klre1 A T 6: 129,559,368 (GRCm39) R99S probably benign Het
Krt79 T C 15: 101,839,904 (GRCm39) T364A probably benign Het
Lin7a C T 10: 107,218,483 (GRCm39) P131L possibly damaging Het
Lrrc49 A G 9: 60,594,699 (GRCm39) Y9H probably benign Het
Mdga2 T C 12: 66,615,532 (GRCm39) S692G probably benign Het
Myo15a G A 11: 60,392,668 (GRCm39) V1017M Het
Nol4 T C 18: 23,172,897 (GRCm39) D68G probably benign Het
Or4f53 T C 2: 111,088,348 (GRCm39) V296A probably benign Het
Or6c75 T C 10: 129,337,515 (GRCm39) V254A probably damaging Het
Pigw C A 11: 84,768,040 (GRCm39) A430S probably benign Het
Pla2g4c T C 7: 13,077,900 (GRCm39) L356P probably damaging Het
Prorp T C 12: 55,385,015 (GRCm39) V410A probably damaging Het
Prr5 A G 15: 84,585,682 (GRCm39) T226A probably benign Het
Pygo1 C T 9: 72,833,056 (GRCm39) probably benign Het
Rnf214 A G 9: 45,779,286 (GRCm39) I333T possibly damaging Het
Septin3 A G 15: 82,167,352 (GRCm39) I86V probably benign Het
Slc30a3 AGGGCTTACCTGAGCGG AGG 5: 31,246,889 (GRCm39) probably null Het
Socs5 C A 17: 87,442,266 (GRCm39) T402K probably damaging Het
Speer3 T A 5: 13,846,368 (GRCm39) N229K Het
Stk16 T C 1: 75,187,804 (GRCm39) probably benign Het
Taar7d T A 10: 23,903,287 (GRCm39) F56L probably benign Het
Tmprss2 C T 16: 97,392,669 (GRCm39) V93I probably benign Het
Tnpo2 G A 8: 85,774,015 (GRCm39) E350K probably benign Het
Tor1aip2 C T 1: 155,937,525 (GRCm39) P87S possibly damaging Het
Trgv7 A T 13: 19,362,385 (GRCm39) R25* probably null Het
Ush2a A G 1: 188,558,589 (GRCm39) E3606G probably benign Het
Zeb1 C T 18: 5,766,709 (GRCm39) Q407* probably null Het
Zfp609 A G 9: 65,611,125 (GRCm39) S613P Het
Zfp735 A G 11: 73,602,403 (GRCm39) N449S 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
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
Z1177:Lrrc8a UTSW 2 30,146,325 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCGACACCAGTACAACTACGTG -3'
(R):5'- TTCTCAAACAGGGCCTTCGC -3'

Sequencing Primer
(F):5'- CCAGTACAACTACGTGGATGCG -3'
(R):5'- AATCCGTGACTTGGTCCGCTG -3'
Posted On 2022-06-15