Incidental Mutation 'R5531:Lrrc8d'
ID 433691
Institutional Source Beutler Lab
Gene Symbol Lrrc8d
Ensembl Gene ENSMUSG00000046079
Gene Name leucine rich repeat containing 8D
Synonyms 2810473G09Rik, 4930525N13Rik, Lrrc5
MMRRC Submission 043089-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5531 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 105847829-105963081 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 105945536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060531] [ENSMUST00000120847] [ENSMUST00000127686] [ENSMUST00000156630] [ENSMUST00000154807]
AlphaFold Q8BGR2
Predicted Effect probably benign
Transcript: ENSMUST00000060531
SMART Domains Protein: ENSMUSP00000057293
Gene: ENSMUSG00000046079

DomainStartEndE-ValueType
Pfam:DUF3733 1 65 5.6e-31 PFAM
Pfam:DUF3733 138 197 2e-24 PFAM
transmembrane domain 366 388 N/A INTRINSIC
internal_repeat_1 490 607 1.13e-8 PROSPERO
LRR 658 681 1.23e0 SMART
LRR 683 705 2.03e1 SMART
LRR_TYP 706 729 9.58e-3 SMART
LRR 730 751 2.47e2 SMART
LRR 752 775 1.76e-1 SMART
LRR 776 797 1.01e2 SMART
LRR 798 821 3.29e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120847
SMART Domains Protein: ENSMUSP00000113603
Gene: ENSMUSG00000046079

DomainStartEndE-ValueType
Pfam:Pannexin_like 1 385 2.2e-160 PFAM
internal_repeat_1 490 607 1.13e-8 PROSPERO
LRR 658 681 1.23e0 SMART
LRR 683 705 2.03e1 SMART
LRR_TYP 706 729 9.58e-3 SMART
LRR 730 751 2.47e2 SMART
LRR 752 775 1.76e-1 SMART
LRR 776 797 1.01e2 SMART
LRR 798 821 3.29e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127686
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132586
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140081
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149831
Predicted Effect probably benign
Transcript: ENSMUST00000156630
Predicted Effect probably benign
Transcript: ENSMUST00000154807
SMART Domains Protein: ENSMUSP00000114662
Gene: ENSMUSG00000046079

DomainStartEndE-ValueType
Pfam:DUF3733 1 65 1.8e-32 PFAM
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.5%
  • 10x: 95.6%
  • 20x: 92.2%
Validation Efficiency 97% (64/66)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T C 5: 114,342,767 (GRCm39) F878L possibly damaging Het
Acr T A 15: 89,458,146 (GRCm39) Y276N probably damaging Het
AI987944 A T 7: 41,023,814 (GRCm39) Y388* probably null Het
Ankrd29 G A 18: 12,412,835 (GRCm39) T114I probably damaging Het
Ap5z1 T C 5: 142,453,536 (GRCm39) M168T probably benign Het
Bard1 A C 1: 71,085,880 (GRCm39) C608W probably damaging Het
Brd10 A G 19: 29,731,072 (GRCm39) S647P possibly damaging Het
Clspn A G 4: 126,471,566 (GRCm39) R907G probably benign Het
Cubn C T 2: 13,355,743 (GRCm39) V1830I probably benign Het
Cwc22 T C 2: 77,754,913 (GRCm39) N221S probably damaging Het
Dact3 A G 7: 16,609,540 (GRCm39) E64G possibly damaging Het
Dhx40 T C 11: 86,680,330 (GRCm39) E381G possibly damaging Het
Dnah7a A G 1: 53,458,907 (GRCm39) S3744P possibly damaging Het
Epha4 A G 1: 77,351,513 (GRCm39) V914A probably benign Het
Fbxw10 G A 11: 62,753,482 (GRCm39) C492Y probably damaging Het
G930045G22Rik C A 6: 50,824,756 (GRCm39) noncoding transcript Het
Gm21103 A T 14: 17,484,855 (GRCm39) I63K probably damaging Het
Gpr156 T C 16: 37,825,619 (GRCm39) V612A probably benign Het
Gucy2g A G 19: 55,229,572 (GRCm39) S33P probably benign Het
Hibch A G 1: 52,884,228 (GRCm39) probably benign Het
Hmcn1 A T 1: 150,619,539 (GRCm39) C1192S probably damaging Het
Hsd11b1 CGG CG 1: 192,922,557 (GRCm39) probably null Het
Ifi214 A G 1: 173,352,686 (GRCm39) Y248H probably damaging Het
Igf2bp2 T G 16: 21,907,835 (GRCm39) I89L probably damaging Het
Il2ra A T 2: 11,681,703 (GRCm39) T103S possibly damaging Het
Ino80 T A 2: 119,276,056 (GRCm39) M407L probably benign Het
Jade1 A C 3: 41,567,946 (GRCm39) K671N probably benign Het
Lca5 C T 9: 83,280,648 (GRCm39) S384N probably benign Het
Lce1l G T 3: 92,757,804 (GRCm39) P18H unknown Het
Ly75 T C 2: 60,195,489 (GRCm39) N223S probably damaging Het
Mcm3 A T 1: 20,873,768 (GRCm39) F784Y possibly damaging Het
Ncf4 T G 15: 78,144,988 (GRCm39) probably benign Het
Ncoa1 T A 12: 4,303,746 (GRCm39) M1362L probably benign Het
Or1e16 T C 11: 73,286,003 (GRCm39) T282A probably benign Het
Or5p5 A G 7: 107,414,451 (GRCm39) Y220C probably benign Het
Or6c8b G C 10: 128,882,433 (GRCm39) F166L probably damaging Het
Prkg2 T C 5: 99,115,593 (GRCm39) R543G probably damaging Het
Ptprd A C 4: 75,977,904 (GRCm39) probably null Het
Scap A G 9: 110,210,497 (GRCm39) S969G possibly damaging Het
Sgk2 T C 2: 162,836,624 (GRCm39) F60S probably benign Het
Sgpp1 G T 12: 75,781,981 (GRCm39) Y119* probably null Het
Siglech A T 7: 55,418,413 (GRCm39) K31* probably null Het
Slc40a1 A G 1: 45,951,498 (GRCm39) Y220H probably damaging Het
Smurf2 G A 11: 106,743,389 (GRCm39) T219M possibly damaging Het
Speer4f2 A G 5: 17,581,526 (GRCm39) K156R possibly damaging Het
Spp1 T G 5: 104,588,424 (GRCm39) D276E probably benign Het
Stk32b T C 5: 37,617,078 (GRCm39) probably null Het
Stxbp5 G A 10: 9,638,668 (GRCm39) Q1044* probably null Het
Sv2c T A 13: 96,097,886 (GRCm39) T696S probably damaging Het
Tubgcp2 A C 7: 139,584,937 (GRCm39) probably null Het
Ubap1l C T 9: 65,278,973 (GRCm39) P91S probably damaging Het
Vmn2r76 A T 7: 85,874,657 (GRCm39) D773E probably damaging Het
Xirp2 C G 2: 67,345,646 (GRCm39) S2629C probably benign Het
Zbtb20 C A 16: 43,431,230 (GRCm39) C580* probably null Het
Zfp957 T A 14: 79,450,622 (GRCm39) Q392H unknown Het
Zfyve19 C T 2: 119,042,427 (GRCm39) T178M probably damaging Het
Zswim6 T C 13: 107,906,128 (GRCm39) noncoding transcript Het
Other mutations in Lrrc8d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00765:Lrrc8d APN 5 105,959,818 (GRCm39) missense possibly damaging 0.60
IGL01327:Lrrc8d APN 5 105,960,131 (GRCm39) missense probably damaging 1.00
IGL02148:Lrrc8d APN 5 105,960,253 (GRCm39) missense possibly damaging 0.92
IGL02228:Lrrc8d APN 5 105,959,730 (GRCm39) missense probably benign 0.44
IGL02551:Lrrc8d APN 5 105,961,414 (GRCm39) missense possibly damaging 0.78
IGL02605:Lrrc8d APN 5 105,974,683 (GRCm39) intron noncoding transcript
heehaw UTSW 5 105,960,957 (GRCm39) missense probably damaging 1.00
hoot UTSW 5 105,959,626 (GRCm39) missense probably damaging 1.00
BB009:Lrrc8d UTSW 5 105,960,891 (GRCm39) missense probably damaging 1.00
BB019:Lrrc8d UTSW 5 105,960,891 (GRCm39) missense probably damaging 1.00
R0415:Lrrc8d UTSW 5 105,959,731 (GRCm39) missense probably damaging 1.00
R1424:Lrrc8d UTSW 5 105,974,782 (GRCm39) missense unknown
R1754:Lrrc8d UTSW 5 105,960,523 (GRCm39) missense probably benign
R3411:Lrrc8d UTSW 5 105,974,572 (GRCm39) intron noncoding transcript
R3605:Lrrc8d UTSW 5 105,974,873 (GRCm39) missense unknown
R3705:Lrrc8d UTSW 5 105,961,341 (GRCm39) missense probably damaging 1.00
R3798:Lrrc8d UTSW 5 105,960,355 (GRCm39) missense probably benign 0.12
R3951:Lrrc8d UTSW 5 105,962,142 (GRCm39) missense probably benign 0.00
R4300:Lrrc8d UTSW 5 105,961,606 (GRCm39) missense probably damaging 0.99
R4953:Lrrc8d UTSW 5 105,961,234 (GRCm39) missense probably damaging 1.00
R5211:Lrrc8d UTSW 5 105,961,606 (GRCm39) missense probably damaging 0.99
R5436:Lrrc8d UTSW 5 105,960,418 (GRCm39) missense probably damaging 0.98
R5512:Lrrc8d UTSW 5 105,960,650 (GRCm39) missense probably damaging 1.00
R5512:Lrrc8d UTSW 5 105,960,651 (GRCm39) missense probably benign 0.00
R5514:Lrrc8d UTSW 5 105,960,651 (GRCm39) missense probably benign 0.00
R5514:Lrrc8d UTSW 5 105,960,650 (GRCm39) missense probably damaging 1.00
R5929:Lrrc8d UTSW 5 105,960,472 (GRCm39) missense probably damaging 0.98
R6063:Lrrc8d UTSW 5 105,959,992 (GRCm39) missense probably benign 0.01
R6379:Lrrc8d UTSW 5 105,960,675 (GRCm39) missense probably benign 0.08
R6431:Lrrc8d UTSW 5 105,959,626 (GRCm39) missense probably damaging 1.00
R7127:Lrrc8d UTSW 5 105,960,829 (GRCm39) missense probably damaging 1.00
R7682:Lrrc8d UTSW 5 105,960,657 (GRCm39) missense probably damaging 1.00
R7821:Lrrc8d UTSW 5 105,960,210 (GRCm39) missense probably damaging 1.00
R7932:Lrrc8d UTSW 5 105,960,891 (GRCm39) missense probably damaging 1.00
R8528:Lrrc8d UTSW 5 105,960,352 (GRCm39) missense probably benign 0.22
R8976:Lrrc8d UTSW 5 105,960,957 (GRCm39) missense probably damaging 1.00
R9063:Lrrc8d UTSW 5 105,961,959 (GRCm39) missense probably damaging 0.97
R9116:Lrrc8d UTSW 5 105,961,908 (GRCm39) missense probably damaging 1.00
R9211:Lrrc8d UTSW 5 105,960,216 (GRCm39) missense probably damaging 1.00
R9358:Lrrc8d UTSW 5 105,960,358 (GRCm39) missense probably benign 0.01
R9388:Lrrc8d UTSW 5 105,961,862 (GRCm39) missense probably damaging 0.97
R9796:Lrrc8d UTSW 5 105,959,917 (GRCm39) missense probably benign 0.01
RF003:Lrrc8d UTSW 5 105,960,507 (GRCm39) missense probably damaging 1.00
X0024:Lrrc8d UTSW 5 105,959,611 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGTTCAACCTTCCTGTGAGG -3'
(R):5'- TAGCGCTACTGTTCTGACTG -3'

Sequencing Primer
(F):5'- TGAGGTTCACAACAATCTTCCCAG -3'
(R):5'- CCTTGTAATCAATCCCAAGGCTTAGG -3'
Posted On 2016-10-06