Incidental Mutation 'R4301:Lrrc30'
ID 322435
Institutional Source Beutler Lab
Gene Symbol Lrrc30
Ensembl Gene ENSMUSG00000073375
Gene Name leucine rich repeat containing 30
Synonyms LOC240131
MMRRC Submission 041088-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4301 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 67937960-67939718 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67939563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 6 (S6P)
Ref Sequence ENSEMBL: ENSMUSP00000094893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097290]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000097290
AA Change: S6P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000094893
Gene: ENSMUSG00000073375
AA Change: S6P

DomainStartEndE-ValueType
LRR_TYP 69 92 1.67e-2 SMART
LRR 115 138 1.73e0 SMART
LRR 139 160 1.91e1 SMART
LRR_TYP 161 184 2.53e-2 SMART
Blast:LRR 207 229 1e-5 BLAST
LRR 230 253 3.29e-1 SMART
Meta Mutation Damage Score 0.2267 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (43/43)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp T A 16: 56,377,266 (GRCm39) V95D probably damaging Het
Adamtsl2 A G 2: 26,977,295 (GRCm39) D252G probably null Het
Adgra3 T C 5: 50,118,420 (GRCm39) R1043G possibly damaging Het
Atxn7l1 A G 12: 33,417,237 (GRCm39) D562G probably damaging Het
Ccdc70 T C 8: 22,463,228 (GRCm39) V6A possibly damaging Het
Cdc25a T C 9: 109,718,810 (GRCm39) V337A probably benign Het
Chil4 G A 3: 106,111,043 (GRCm39) P284S possibly damaging Het
Crb1 A G 1: 139,176,568 (GRCm39) S472P probably benign Het
Fam193b G A 13: 55,690,417 (GRCm39) R740* probably null Het
Fer G T 17: 64,385,905 (GRCm39) L292F probably damaging Het
Gmppa G A 1: 75,419,140 (GRCm39) R349H possibly damaging Het
Hspa1a T C 17: 35,189,482 (GRCm39) I474V probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Lzts3 A G 2: 130,478,358 (GRCm39) S133P probably damaging Het
Mrtfb T C 16: 13,216,169 (GRCm39) Y294H probably damaging Het
Mtmr12 T A 15: 12,236,106 (GRCm39) F122I possibly damaging Het
Mypn A G 10: 62,954,263 (GRCm39) Y124H probably damaging Het
Nfat5 T C 8: 108,082,327 (GRCm39) probably benign Het
Npr2 T C 4: 43,641,332 (GRCm39) probably null Het
Or5a3 T C 19: 12,400,081 (GRCm39) L136P probably damaging Het
Pgm2 G A 5: 64,261,140 (GRCm39) W51* probably null Het
Phip G A 9: 82,841,766 (GRCm39) R48* probably null Het
Piezo2 T C 18: 63,217,911 (GRCm39) T1075A probably damaging Het
Ppat G T 5: 77,076,348 (GRCm39) probably benign Het
Ppp2r2b T A 18: 43,031,811 (GRCm39) E23D probably null Het
Prickle1 T C 15: 93,406,517 (GRCm39) I169V possibly damaging Het
Rab37 T A 11: 115,049,390 (GRCm39) D95E possibly damaging Het
Sash1 A G 10: 8,627,234 (GRCm39) V50A probably benign Het
Siae C A 9: 37,545,009 (GRCm39) Q335K possibly damaging Het
Snx14 A T 9: 88,292,676 (GRCm39) I217K probably damaging Het
Son A G 16: 91,455,299 (GRCm39) T1349A possibly damaging Het
Sptb A G 12: 76,659,471 (GRCm39) L1143S probably damaging Het
Trim80 T C 11: 115,335,939 (GRCm39) probably null Het
Trpm3 T C 19: 22,964,656 (GRCm39) S1374P probably benign Het
Vldlr C A 19: 27,215,802 (GRCm39) D266E possibly damaging Het
Vmn2r79 A G 7: 86,651,099 (GRCm39) H166R possibly damaging Het
Zbtb10 A T 3: 9,330,220 (GRCm39) Q526L probably damaging Het
Zfr2 T C 10: 81,078,018 (GRCm39) probably benign Het
Zswim8 G A 14: 20,763,977 (GRCm39) R449H possibly damaging Het
Zzef1 T C 11: 72,779,861 (GRCm39) V1878A probably damaging Het
Other mutations in Lrrc30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00499:Lrrc30 APN 17 67,939,034 (GRCm39) missense probably damaging 1.00
IGL00957:Lrrc30 APN 17 67,939,499 (GRCm39) missense probably benign 0.00
IGL02500:Lrrc30 APN 17 67,938,857 (GRCm39) missense probably damaging 1.00
R1666:Lrrc30 UTSW 17 67,939,200 (GRCm39) missense probably benign 0.39
R1769:Lrrc30 UTSW 17 67,938,676 (GRCm39) makesense probably null
R2079:Lrrc30 UTSW 17 67,938,875 (GRCm39) missense possibly damaging 0.80
R3405:Lrrc30 UTSW 17 67,939,175 (GRCm39) missense probably damaging 1.00
R3406:Lrrc30 UTSW 17 67,939,175 (GRCm39) missense probably damaging 1.00
R6399:Lrrc30 UTSW 17 67,939,681 (GRCm39) start gained probably benign
R6469:Lrrc30 UTSW 17 67,938,860 (GRCm39) missense probably benign
R7079:Lrrc30 UTSW 17 67,939,016 (GRCm39) missense possibly damaging 0.96
R7454:Lrrc30 UTSW 17 67,939,238 (GRCm39) missense probably damaging 0.97
R7611:Lrrc30 UTSW 17 67,939,424 (GRCm39) missense probably damaging 0.97
R7642:Lrrc30 UTSW 17 67,939,472 (GRCm39) missense probably damaging 1.00
R8512:Lrrc30 UTSW 17 67,938,947 (GRCm39) missense probably damaging 0.99
R9059:Lrrc30 UTSW 17 67,938,798 (GRCm39) missense probably damaging 1.00
R9198:Lrrc30 UTSW 17 67,938,854 (GRCm39) missense probably benign 0.34
R9638:Lrrc30 UTSW 17 67,939,226 (GRCm39) missense probably damaging 0.99
X0027:Lrrc30 UTSW 17 67,939,454 (GRCm39) missense probably damaging 1.00
Z1088:Lrrc30 UTSW 17 67,938,690 (GRCm39) missense possibly damaging 0.93
Z1176:Lrrc30 UTSW 17 67,939,431 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTCTGGACCTCCAACAAGCC -3'
(R):5'- GCTCTCCTGCAACCATGTAG -3'

Sequencing Primer
(F):5'- CAGAAAATCTGGGATGTCTGTCATTC -3'
(R):5'- GGTTTCCGACCTCGTCATCTG -3'
Posted On 2015-06-20