Incidental Mutation 'RF003:Lrrc8d'
ID 602613
Institutional Source Beutler Lab
Gene Symbol Lrrc8d
Ensembl Gene ENSMUSG00000046079
Gene Name leucine rich repeat containing 8D
Synonyms 2810473G09Rik, 4930525N13Rik, Lrrc5
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # RF003 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 105847829-105963081 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105960507 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 306 (Y306H)
Ref Sequence ENSEMBL: ENSMUSP00000057293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060531] [ENSMUST00000120847] [ENSMUST00000127686] [ENSMUST00000154807] [ENSMUST00000156630]
AlphaFold Q8BGR2
Predicted Effect probably damaging
Transcript: ENSMUST00000060531
AA Change: Y306H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057293
Gene: ENSMUSG00000046079
AA Change: Y306H

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 damaging
Transcript: ENSMUST00000120847
AA Change: Y306H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113603
Gene: ENSMUSG00000046079
AA Change: Y306H

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 probably benign
Transcript: ENSMUST00000154807
SMART Domains Protein: ENSMUSP00000114662
Gene: ENSMUSG00000046079

DomainStartEndE-ValueType
Pfam:DUF3733 1 65 1.8e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156630
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.2%
  • 20x: 98.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik AACC A 7: 40,642,479 (GRCm39) probably benign Het
A630073D07Rik A C 6: 132,604,406 (GRCm39) L13R unknown Het
Alg9 GGC GGCCGC 9: 50,686,727 (GRCm39) probably benign Het
Arb2a A T 13: 77,982,794 (GRCm39) I135L possibly damaging Het
Arc G C 15: 74,543,980 (GRCm39) T81S probably benign Het
Atad5 A T 11: 80,002,386 (GRCm39) K1059N probably damaging Het
Bdp1 C A 13: 100,196,957 (GRCm39) V1143F probably benign Het
Bdp1 C A 13: 100,196,958 (GRCm39) Q1142H probably benign Het
Ccdc33 T C 9: 57,965,574 (GRCm39) S583G probably benign Het
Cd109 TTAT TTATTTATTTATATAT 9: 78,619,813 (GRCm39) probably benign Het
Cep192 A T 18: 67,971,027 (GRCm39) R1009S probably benign Het
Clvs2 T A 10: 33,498,921 (GRCm39) H3L probably damaging Het
Cnot6 T C 11: 49,593,440 (GRCm39) M14V probably benign Het
Colec10 A G 15: 54,325,787 (GRCm39) R206G possibly damaging Het
Dennd6a T C 14: 26,350,689 (GRCm39) I598T probably damaging Het
Dmrt2 T C 19: 25,655,498 (GRCm39) S366P probably damaging Het
Dnmt1 AGTTCCTACCTCGTT AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT 9: 20,821,427 (GRCm39) probably null Het
Efhb T C 17: 53,707,919 (GRCm39) D748G probably damaging Het
Etl4 C T 2: 20,524,729 (GRCm39) Q21* probably null Het
Flywch1 CCACTCCTGGTGT CCACTCCTGGTGTGGGGAGGCTACGTACTCACACACTCCTGGTGT 17: 23,981,140 (GRCm39) probably null Het
Fmn1 ACCTCC ACCTCCCCCTCC 2: 113,356,131 (GRCm39) probably benign Het
Fsip2 T A 2: 82,821,865 (GRCm39) M5866K probably benign Het
Gab3 CTT CTTATT X: 74,043,612 (GRCm39) probably null Het
Garin5a C CGGAGGGAGGAAGGCTGGATCCTGGATACCTGGGTA 7: 44,149,951 (GRCm39) probably null Het
Gnl2 T A 4: 124,937,518 (GRCm39) probably null Het
Grip2 C T 6: 91,760,574 (GRCm39) R341Q probably benign Het
Hmcn1 T A 1: 150,500,312 (GRCm39) H3960L probably damaging Het
Igkv6-25 T A 6: 70,192,762 (GRCm39) Y56* probably null Het
Il12a A T 3: 68,602,562 (GRCm39) T102S probably benign Het
Il1a T A 2: 129,144,852 (GRCm39) I189F possibly damaging Het
Inpp4b T A 8: 82,696,150 (GRCm39) Y361* probably null Het
Iqcf4 CTTTTCCTTTTCCTTTT CTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCATTTTCCTTTTCCTTTT 9: 106,447,806 (GRCm39) probably benign Het
Irag2 AGCACATTG AGCACATTGTGCACATTG 6: 145,119,509 (GRCm39) probably benign Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Las1l AGTGG AGTGGTGG X: 94,984,422 (GRCm39) probably benign Het
Mamld1 AGC AGCCGC X: 70,162,426 (GRCm39) probably benign Het
Map1a CTCCAGCTCCAGCTCCAGCTCCA CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCA 2: 121,136,777 (GRCm39) probably benign Het
Map1b G T 13: 99,567,258 (GRCm39) A1821E unknown Het
Maz A G 7: 126,624,669 (GRCm39) C284R probably damaging Het
Med23 A G 10: 24,779,683 (GRCm39) H920R probably damaging Het
Megf10 CCAGCAGCAGCAGCAGCAGCAG CCAGCAGCAGCAGCAGCAG 18: 57,427,099 (GRCm39) probably benign Het
Mmp14 C T 14: 54,676,471 (GRCm39) R339* probably null Het
Mroh9 T G 1: 162,885,630 (GRCm39) K334T probably damaging Het
Nab1 A T 1: 52,518,441 (GRCm39) C320S probably damaging Het
Noto T C 6: 85,401,192 (GRCm39) S74P probably benign Het
Nudt4 T C 10: 95,385,236 (GRCm39) N152D possibly damaging Het
Nup155 T TTTTG 15: 8,148,660 (GRCm39) probably benign Het
Nusap1 AGCTGAGA AGCTGAGATACACGTTAGCAGTGAGGAGCAGGCTGAGA 2: 119,458,084 (GRCm39) probably benign Het
Or10al2 A C 17: 37,983,749 (GRCm39) K278N probably damaging Het
Or2d4 T A 7: 106,543,855 (GRCm39) M118L probably damaging Het
Or2t48 CA C 11: 58,419,983 (GRCm39) probably null Het
Or51f1e TTA TTAGTA 7: 102,747,513 (GRCm39) probably null Het
Or51f1e GTTAT GTTATTAT 7: 102,747,512 (GRCm39) Het
Or7g16 T C 9: 18,726,778 (GRCm39) T271A probably benign Het
Or9a7 T C 6: 40,521,296 (GRCm39) I206V probably benign Het
Plxnc1 T C 10: 94,630,306 (GRCm39) Y1531C probably damaging Het
Pnma8b TGA TGAAGA 7: 16,679,941 (GRCm39) probably benign Het
Rp1 A G 1: 4,414,917 (GRCm39) V2065A probably damaging Het
Sbp AAGATGCTGACAACA AAGATGCTGACAACAGAGATGCTGACAACA 17: 24,164,343 (GRCm39) probably benign Het
Sepsecs G A 5: 52,804,533 (GRCm39) T379M probably benign Het
Sfswap GGCC GGCCCACTCTGCC 5: 129,646,828 (GRCm39) probably benign Het
Six3 GCG GCGTCG 17: 85,928,798 (GRCm39) probably benign Het
Tfeb C T 17: 48,099,003 (GRCm39) T259I possibly damaging Het
Tgoln1 A AAACTCAG 6: 72,593,335 (GRCm39) probably null Het
Tmem94 G A 11: 115,686,958 (GRCm39) V1108M probably damaging Het
Usp35 T C 7: 96,971,303 (GRCm39) K297E possibly damaging Het
Vcpkmt T A 12: 69,629,598 (GRCm39) T55S possibly damaging Het
Zfp384 GCCCAGGCCCAG GCCCAGGCCCAGTCCCAGGCCCAG 6: 125,013,446 (GRCm39) probably benign Het
Zfp384 GCCCAGGCCCAGGCCCAGGCCCAG GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG 6: 125,013,434 (GRCm39) probably benign Het
Zfp384 GGCCC GGCCCTGGCCCAAGCCC 6: 125,013,439 (GRCm39) probably benign Het
Zfp407 A T 18: 84,227,688 (GRCm39) S1974T probably benign Het
Zfp677 T C 17: 21,617,704 (GRCm39) S254P probably damaging 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
R5531:Lrrc8d UTSW 5 105,945,536 (GRCm39) intron probably benign
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
X0024:Lrrc8d UTSW 5 105,959,611 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AACTAAGGCGCTGTCAGAGAC -3'
(R):5'- CATGTAGGCCATATTGTGAGTGC -3'

Sequencing Primer
(F):5'- ACGGCCTGTGAAGACTCTGAG -3'
(R):5'- TTGTGAGTGCACTCGAACAC -3'
Posted On 2019-12-04