Incidental Mutation 'R5791:Lrrd1'
ID 446966
Institutional Source Beutler Lab
Gene Symbol Lrrd1
Ensembl Gene ENSMUSG00000040367
Gene Name leucine rich repeats and death domain containing 1
Synonyms 4932412H11Rik
MMRRC Submission 043207-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R5791 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 3895173-3916596 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3901254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 520 (S520P)
Ref Sequence ENSEMBL: ENSMUSP00000038675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044039] [ENSMUST00000143027]
AlphaFold Q8C0R9
Predicted Effect probably benign
Transcript: ENSMUST00000044039
AA Change: S520P

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000038675
Gene: ENSMUSG00000040367
AA Change: S520P

DomainStartEndE-ValueType
low complexity region 89 101 N/A INTRINSIC
low complexity region 155 165 N/A INTRINSIC
LRR 181 203 3.18e1 SMART
LRR 204 226 7.8e1 SMART
LRR 227 249 5.26e0 SMART
LRR 250 272 3.98e1 SMART
LRR 273 294 2.33e1 SMART
LRR 296 318 2.14e1 SMART
LRR_TYP 319 342 1.45e-2 SMART
LRR 365 388 4.44e0 SMART
LRR 389 410 2.76e1 SMART
LRR 411 433 8.73e1 SMART
LRR 434 457 3.55e1 SMART
LRR 480 503 1.45e1 SMART
LRR 526 548 1.31e0 SMART
LRR 549 571 3.65e1 SMART
LRR 572 594 6.22e0 SMART
LRR 595 618 2.68e1 SMART
LRR 644 665 1.15e1 SMART
LRR 667 689 8.01e0 SMART
LRR 690 713 1.53e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143027
SMART Domains Protein: ENSMUSP00000122668
Gene: ENSMUSG00000040367

DomainStartEndE-ValueType
low complexity region 89 101 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 G C 8: 41,207,257 (GRCm39) Q174H probably benign Het
Adipor2 A T 6: 119,338,866 (GRCm39) M129K possibly damaging Het
Arhgap29 T A 3: 121,807,894 (GRCm39) M616K probably damaging Het
Calcrl A T 2: 84,181,609 (GRCm39) F180I probably damaging Het
Cdh4 T C 2: 179,537,560 (GRCm39) V864A probably damaging Het
Cep78 A G 19: 15,938,436 (GRCm39) F504S probably benign Het
Coasy A G 11: 100,975,211 (GRCm39) probably null Het
Dnah3 T C 7: 119,530,696 (GRCm39) N751S probably benign Het
Ecpas C T 4: 58,814,027 (GRCm39) E1360K possibly damaging Het
Ecpas T A 4: 58,822,111 (GRCm39) D1152V probably damaging Het
Eea1 T A 10: 95,855,857 (GRCm39) N631K probably benign Het
Fam149b A G 14: 20,401,394 (GRCm39) K27R probably damaging Het
Fbxw26 A G 9: 109,574,221 (GRCm39) W42R probably damaging Het
Gas6 A G 8: 13,520,217 (GRCm39) probably null Het
Gfral C T 9: 76,104,328 (GRCm39) R228Q probably benign Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gmppa T C 1: 75,418,899 (GRCm39) V324A possibly damaging Het
Gstm2 C T 3: 107,891,444 (GRCm39) probably null Het
Kcng3 A G 17: 83,895,639 (GRCm39) S276P probably benign Het
Lrrn2 A G 1: 132,865,505 (GRCm39) N190S probably benign Het
Lrwd1 G C 5: 136,159,887 (GRCm39) A392G probably benign Het
Mab21l2 A G 3: 86,454,044 (GRCm39) Y319H probably damaging Het
Ndufv3 A G 17: 31,746,382 (GRCm39) N91D probably benign Het
Nfatc2 T A 2: 168,378,313 (GRCm39) M451L probably benign Het
Or10g9b A T 9: 39,918,030 (GRCm39) S72T probably damaging Het
Pcdhgb2 G T 18: 37,825,393 (GRCm39) V795F possibly damaging Het
Pdcd11 T A 19: 47,099,430 (GRCm39) M843K possibly damaging Het
Pla2g4c T A 7: 13,073,617 (GRCm39) N221K probably benign Het
Ppox T C 1: 171,104,885 (GRCm39) Y422C probably damaging Het
Retreg3 A G 11: 100,991,769 (GRCm39) S55P probably damaging Het
Rnf103 C A 6: 71,485,909 (GRCm39) T180K probably damaging Het
Tbl3 A T 17: 24,923,408 (GRCm39) L307H probably damaging Het
Tex26 A T 5: 149,363,240 (GRCm39) probably null Het
Tln2 A T 9: 67,293,887 (GRCm39) I247K probably damaging Het
Txlnb T C 10: 17,674,876 (GRCm39) S10P probably benign Het
Vwde C A 6: 13,195,985 (GRCm39) E347* probably null Het
Wasf1 G A 10: 40,802,570 (GRCm39) R75Q probably damaging Het
Zfp14 A G 7: 29,737,687 (GRCm39) S433P probably damaging Het
Zfp647 G T 15: 76,802,206 (GRCm39) A2E unknown Het
Other mutations in Lrrd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Lrrd1 APN 5 3,900,573 (GRCm39) missense possibly damaging 0.94
IGL00329:Lrrd1 APN 5 3,900,081 (GRCm39) missense possibly damaging 0.94
IGL00674:Lrrd1 APN 5 3,899,773 (GRCm39) missense possibly damaging 0.92
IGL00691:Lrrd1 APN 5 3,913,929 (GRCm39) missense probably damaging 0.98
IGL00839:Lrrd1 APN 5 3,900,017 (GRCm39) missense probably benign 0.00
IGL00911:Lrrd1 APN 5 3,915,689 (GRCm39) missense probably benign 0.07
IGL01754:Lrrd1 APN 5 3,901,432 (GRCm39) missense probably damaging 1.00
IGL01981:Lrrd1 APN 5 3,901,267 (GRCm39) missense probably damaging 1.00
IGL02003:Lrrd1 APN 5 3,899,857 (GRCm39) missense probably damaging 0.99
IGL02223:Lrrd1 APN 5 3,900,211 (GRCm39) missense probably benign
IGL02477:Lrrd1 APN 5 3,915,770 (GRCm39) missense probably benign
IGL02609:Lrrd1 APN 5 3,908,803 (GRCm39) missense probably benign 0.26
IGL02833:Lrrd1 APN 5 3,900,709 (GRCm39) missense probably damaging 0.98
IGL02886:Lrrd1 APN 5 3,901,534 (GRCm39) missense probably benign 0.00
IGL02896:Lrrd1 APN 5 3,901,473 (GRCm39) missense probably benign 0.08
R0045:Lrrd1 UTSW 5 3,916,418 (GRCm39) missense possibly damaging 0.50
R0138:Lrrd1 UTSW 5 3,901,345 (GRCm39) missense probably benign 0.04
R0305:Lrrd1 UTSW 5 3,915,707 (GRCm39) missense probably damaging 1.00
R0346:Lrrd1 UTSW 5 3,900,215 (GRCm39) missense probably benign 0.03
R0455:Lrrd1 UTSW 5 3,916,425 (GRCm39) missense probably benign 0.21
R1717:Lrrd1 UTSW 5 3,900,580 (GRCm39) missense probably damaging 0.99
R1719:Lrrd1 UTSW 5 3,900,483 (GRCm39) splice site probably null
R1836:Lrrd1 UTSW 5 3,915,709 (GRCm39) missense probably benign 0.36
R1951:Lrrd1 UTSW 5 3,901,488 (GRCm39) missense probably damaging 1.00
R2199:Lrrd1 UTSW 5 3,916,478 (GRCm39) missense possibly damaging 0.86
R3751:Lrrd1 UTSW 5 3,900,282 (GRCm39) missense probably benign 0.37
R3752:Lrrd1 UTSW 5 3,900,282 (GRCm39) missense probably benign 0.37
R3837:Lrrd1 UTSW 5 3,900,204 (GRCm39) missense possibly damaging 0.73
R3862:Lrrd1 UTSW 5 3,901,248 (GRCm39) missense probably benign 0.00
R3863:Lrrd1 UTSW 5 3,901,248 (GRCm39) missense probably benign 0.00
R3864:Lrrd1 UTSW 5 3,901,248 (GRCm39) missense probably benign 0.00
R4816:Lrrd1 UTSW 5 3,901,126 (GRCm39) nonsense probably null
R5225:Lrrd1 UTSW 5 3,908,735 (GRCm39) missense probably benign 0.00
R5721:Lrrd1 UTSW 5 3,900,619 (GRCm39) missense probably benign 0.13
R6077:Lrrd1 UTSW 5 3,900,837 (GRCm39) missense probably benign 0.01
R6229:Lrrd1 UTSW 5 3,913,887 (GRCm39) missense probably damaging 1.00
R6330:Lrrd1 UTSW 5 3,900,629 (GRCm39) missense probably damaging 1.00
R6588:Lrrd1 UTSW 5 3,901,386 (GRCm39) missense probably benign 0.19
R6734:Lrrd1 UTSW 5 3,900,226 (GRCm39) missense possibly damaging 0.95
R6932:Lrrd1 UTSW 5 3,901,395 (GRCm39) missense probably benign 0.06
R7180:Lrrd1 UTSW 5 3,901,459 (GRCm39) missense probably damaging 1.00
R7771:Lrrd1 UTSW 5 3,916,476 (GRCm39) missense possibly damaging 0.84
R8356:Lrrd1 UTSW 5 3,916,509 (GRCm39) missense probably benign 0.19
R9031:Lrrd1 UTSW 5 3,900,963 (GRCm39) nonsense probably null
R9208:Lrrd1 UTSW 5 3,900,995 (GRCm39) missense probably damaging 0.97
R9344:Lrrd1 UTSW 5 3,908,819 (GRCm39) missense possibly damaging 0.59
R9381:Lrrd1 UTSW 5 3,901,074 (GRCm39) missense probably benign 0.43
R9400:Lrrd1 UTSW 5 3,899,677 (GRCm39) unclassified probably benign
R9471:Lrrd1 UTSW 5 3,913,980 (GRCm39) missense
R9549:Lrrd1 UTSW 5 3,901,473 (GRCm39) missense probably benign 0.08
R9557:Lrrd1 UTSW 5 3,901,432 (GRCm39) missense probably damaging 1.00
R9607:Lrrd1 UTSW 5 3,901,561 (GRCm39) missense probably damaging 0.99
R9725:Lrrd1 UTSW 5 3,901,147 (GRCm39) missense probably benign 0.42
R9775:Lrrd1 UTSW 5 3,899,897 (GRCm39) missense probably benign 0.03
R9778:Lrrd1 UTSW 5 3,899,982 (GRCm39) missense possibly damaging 0.77
R9785:Lrrd1 UTSW 5 3,908,708 (GRCm39) missense probably damaging 1.00
Z1176:Lrrd1 UTSW 5 3,900,025 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- TCAGGCAATCAAATCACACATGTTC -3'
(R):5'- TTCTGAAATATCAAGCACTCGCAAG -3'

Sequencing Primer
(F):5'- CAATCAAATCACACATGTTCCTATTG -3'
(R):5'- TTCGGGAAACTCTCGAAC -3'
Posted On 2016-12-15