Incidental Mutation 'R6742:Lrrc32'
ID 530489
Institutional Source Beutler Lab
Gene Symbol Lrrc32
Ensembl Gene ENSMUSG00000090958
Gene Name leucine rich repeat containing 32
Synonyms D7H11S833E, EG434215, D11S833Eh, Garp
MMRRC Submission 044859-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.342) question?
Stock # R6742 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 98138515-98151038 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98148039 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 273 (V273A)
Ref Sequence ENSEMBL: ENSMUSP00000145859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165205] [ENSMUST00000205937] [ENSMUST00000205956]
AlphaFold G3XA59
Predicted Effect probably benign
Transcript: ENSMUST00000165205
AA Change: V273A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000133205
Gene: ENSMUSG00000090958
AA Change: V273A

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Blast:LRRNT 22 54 3e-12 BLAST
LRR_TYP 73 96 9.44e-2 SMART
LRR 97 123 1.86e2 SMART
LRR 124 148 3.01e2 SMART
LRR 149 172 5.41e0 SMART
LRR 173 196 1.51e0 SMART
LRR_TYP 197 220 7.67e-2 SMART
LRR 265 287 1.49e2 SMART
LRR 315 338 4.97e0 SMART
LRR 339 362 8.01e0 SMART
LRR 363 384 5.57e1 SMART
LRR_TYP 386 409 3.44e-4 SMART
low complexity region 425 437 N/A INTRINSIC
LRR 443 466 2.33e2 SMART
LRR 514 536 2.03e1 SMART
LRR 537 559 2.61e1 SMART
Blast:LRR 561 588 6e-11 BLAST
transmembrane domain 630 652 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000205937
Predicted Effect probably benign
Transcript: ENSMUST00000205956
AA Change: V273A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 100% (46/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type I membrane protein which contains 20 leucine-rich repeats. Alterations in the chromosomal region 11q13-11q14 are involved in several pathologies. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional allele activated in T cells exhibit reduced regulatory T cell ability to drive Th17 differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,654,995 (GRCm39) R1440G probably benign Het
Abca13 T A 11: 9,278,168 (GRCm39) L3116Q probably damaging Het
Adgb G A 10: 10,287,593 (GRCm39) H55Y probably damaging Het
AI182371 G T 2: 34,974,717 (GRCm39) probably benign Het
Ank3 T C 10: 69,827,412 (GRCm39) probably benign Het
Ccdc127 G T 13: 74,501,042 (GRCm39) G20W probably damaging Het
Ccdc149 G A 5: 52,562,475 (GRCm39) Q184* probably null Het
Cntrob G A 11: 69,213,749 (GRCm39) P14S probably damaging Het
Dnah11 T C 12: 118,077,629 (GRCm39) E1288G possibly damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Evpl T C 11: 116,113,640 (GRCm39) D1350G possibly damaging Het
Fasn T C 11: 120,701,279 (GRCm39) T1990A probably damaging Het
Itga2 T A 13: 114,973,061 (GRCm39) N1166I possibly damaging Het
Lmtk2 T A 5: 144,085,175 (GRCm39) C216S probably damaging Het
Lrp1b T C 2: 41,361,132 (GRCm39) D557G probably benign Het
Nlrp4f C T 13: 65,335,254 (GRCm39) probably null Het
Ntng2 T G 2: 29,090,940 (GRCm39) M360L probably benign Het
Pik3c2b A G 1: 133,003,559 (GRCm39) S504G probably benign Het
Ppfia4 A C 1: 134,256,909 (GRCm39) L104R probably damaging Het
Raph1 A G 1: 60,564,879 (GRCm39) S203P probably damaging Het
Rbl1 G A 2: 157,011,918 (GRCm39) T679I probably benign Het
Rnase4 G T 14: 51,342,486 (GRCm39) R70L probably benign Het
Rnf146 A C 10: 29,223,528 (GRCm39) D119E probably damaging Het
Rrp1b A G 17: 32,275,908 (GRCm39) H485R probably benign Het
Rwdd4a T A 8: 48,000,998 (GRCm39) probably null Het
Scarf2 G A 16: 17,624,351 (GRCm39) C552Y probably damaging Het
Skic2 G A 17: 35,064,166 (GRCm39) R507* probably null Het
Sox10 T C 15: 79,040,676 (GRCm39) N127S probably damaging Het
Speer4a1 A T 5: 26,241,054 (GRCm39) probably null Het
Tars1 A T 15: 11,394,427 (GRCm39) I70N probably damaging Het
Thsd7a C T 6: 12,408,815 (GRCm39) V736M probably damaging Het
Timp3 G A 10: 86,136,742 (GRCm39) V9M probably benign Het
Tnfrsf1a A T 6: 125,333,911 (GRCm39) N55Y probably damaging Het
Trim43a G A 9: 88,470,399 (GRCm39) V402I possibly damaging Het
Tshz2 A G 2: 169,725,677 (GRCm39) D91G probably damaging Het
Ubac1 T C 2: 25,895,418 (GRCm39) D345G possibly damaging Het
Usp4 G A 9: 108,251,438 (GRCm39) V538I possibly damaging Het
Vmn2r19 A T 6: 123,306,917 (GRCm39) Y475F possibly damaging Het
Vmn2r87 A T 10: 130,308,396 (GRCm39) V614E probably damaging Het
Wfdc2 A T 2: 164,404,706 (GRCm39) T21S probably benign Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Zfp78 A G 7: 6,381,277 (GRCm39) E109G probably damaging Het
Zfp873 C A 10: 81,894,256 (GRCm39) A19D probably damaging Het
Zfp935 T A 13: 62,602,293 (GRCm39) K302N probably damaging Het
Zfpm2 G A 15: 40,965,114 (GRCm39) S401N probably benign Het
Other mutations in Lrrc32
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01447:Lrrc32 APN 7 98,147,583 (GRCm39) missense probably damaging 1.00
IGL01484:Lrrc32 APN 7 98,143,442 (GRCm39) missense probably damaging 0.99
IGL01608:Lrrc32 APN 7 98,148,564 (GRCm39) missense probably benign 0.01
IGL02025:Lrrc32 APN 7 98,148,767 (GRCm39) missense probably benign 0.00
IGL02026:Lrrc32 APN 7 98,148,767 (GRCm39) missense probably benign 0.00
IGL03061:Lrrc32 APN 7 98,148,629 (GRCm39) missense probably benign 0.04
IGL03191:Lrrc32 APN 7 98,147,454 (GRCm39) missense possibly damaging 0.66
R0706:Lrrc32 UTSW 7 98,148,917 (GRCm39) missense probably damaging 1.00
R0947:Lrrc32 UTSW 7 98,148,090 (GRCm39) missense probably benign
R1470:Lrrc32 UTSW 7 98,148,564 (GRCm39) missense probably benign
R1470:Lrrc32 UTSW 7 98,148,564 (GRCm39) missense probably benign
R2879:Lrrc32 UTSW 7 98,148,984 (GRCm39) missense probably benign 0.02
R3608:Lrrc32 UTSW 7 98,148,393 (GRCm39) missense probably benign 0.09
R4417:Lrrc32 UTSW 7 98,148,144 (GRCm39) missense probably benign 0.01
R4798:Lrrc32 UTSW 7 98,148,224 (GRCm39) missense probably damaging 1.00
R4872:Lrrc32 UTSW 7 98,147,727 (GRCm39) missense probably damaging 0.99
R5813:Lrrc32 UTSW 7 98,147,618 (GRCm39) missense probably damaging 1.00
R6062:Lrrc32 UTSW 7 98,147,748 (GRCm39) missense probably benign 0.00
R6930:Lrrc32 UTSW 7 98,148,471 (GRCm39) missense possibly damaging 0.89
R7265:Lrrc32 UTSW 7 98,148,644 (GRCm39) missense probably damaging 1.00
R7367:Lrrc32 UTSW 7 98,148,086 (GRCm39) nonsense probably null
R7372:Lrrc32 UTSW 7 98,149,014 (GRCm39) missense probably benign 0.28
R7414:Lrrc32 UTSW 7 98,149,201 (GRCm39) missense probably benign 0.01
R7485:Lrrc32 UTSW 7 98,147,414 (GRCm39) missense possibly damaging 0.94
R7679:Lrrc32 UTSW 7 98,148,894 (GRCm39) missense possibly damaging 0.91
R7713:Lrrc32 UTSW 7 98,148,545 (GRCm39) missense probably damaging 0.99
R8782:Lrrc32 UTSW 7 98,148,270 (GRCm39) missense probably damaging 1.00
R8815:Lrrc32 UTSW 7 98,148,242 (GRCm39) missense probably damaging 1.00
R9190:Lrrc32 UTSW 7 98,148,234 (GRCm39) missense probably benign 0.00
R9258:Lrrc32 UTSW 7 98,148,345 (GRCm39) missense probably benign 0.02
R9367:Lrrc32 UTSW 7 98,148,937 (GRCm39) missense probably damaging 1.00
Z1088:Lrrc32 UTSW 7 98,148,267 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GCATCTCAGACTTCAGCCTC -3'
(R):5'- TCTGCTGAGGTTGAGGAAGC -3'

Sequencing Primer
(F):5'- TCCAGCAGCTGCAGGTACTAG -3'
(R):5'- TAGCAGGGACCAGTTCGATCTC -3'
Posted On 2018-08-01