Incidental Mutation 'IGL02500:Lrrc30'
ID296002
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc30
Ensembl Gene ENSMUSG00000073375
Gene Nameleucine rich repeat containing 30
SynonymsLOC240131
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02500
Quality Score
Status
Chromosome17
Chromosomal Location67630965-67632723 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 67631862 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 241 (N241I)
Ref Sequence ENSEMBL: ENSMUSP00000094893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097290]
Predicted Effect probably damaging
Transcript: ENSMUST00000097290
AA Change: N241I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000094893
Gene: ENSMUSG00000073375
AA Change: N241I

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A T 14: 118,618,926 I409N possibly damaging Het
Aoc3 T A 11: 101,337,389 L674* probably null Het
Arhgef10 G A 8: 14,961,238 E265K probably damaging Het
Cd53 A G 3: 106,768,826 I75T probably damaging Het
Col26a1 A T 5: 136,754,339 L235* probably null Het
Crem G T 18: 3,273,477 Q60K probably damaging Het
Cyp2j8 T C 4: 96,470,650 D344G probably damaging Het
Cyr61 T C 3: 145,648,700 K152R probably damaging Het
Dchs1 T C 7: 105,755,806 T2510A probably benign Het
Dnajc4 T C 19: 6,988,088 Q215R possibly damaging Het
Espl1 A G 15: 102,315,800 H1262R probably benign Het
Exoc2 G T 13: 30,911,196 T239K probably damaging Het
Fzd6 A T 15: 39,031,386 S316C probably damaging Het
Htra1 A G 7: 130,984,974 K429R probably benign Het
Il1rapl2 C T X: 138,846,503 T647I possibly damaging Het
Kcnn3 T A 3: 89,661,112 probably benign Het
Kiz G A 2: 146,863,813 V98I probably benign Het
Klk1b24 A T 7: 44,188,324 probably benign Het
Map2k4 A G 11: 65,696,310 V288A probably damaging Het
Mefv T C 16: 3,713,577 H459R probably damaging Het
Mettl21a G T 1: 64,608,054 Q115K probably benign Het
Msra A G 14: 64,285,188 probably benign Het
Myh8 G A 11: 67,305,710 R1752H probably benign Het
Nrp1 T C 8: 128,425,799 F163S possibly damaging Het
Ntng1 T A 3: 110,135,330 Y60F probably damaging Het
Pax6 G T 2: 105,692,770 R317L probably benign Het
Pcdh17 A G 14: 84,533,469 E1129G probably benign Het
Phlpp2 C T 8: 109,913,618 H472Y probably benign Het
Pip5k1c C A 10: 81,317,321 probably null Het
Prkce A G 17: 86,168,914 N108D probably benign Het
Prkdc T G 16: 15,714,282 probably null Het
Ptprm T C 17: 66,920,048 Y702C probably damaging Het
Rbbp8nl T C 2: 180,279,329 T421A possibly damaging Het
Retnlg A T 16: 48,872,960 L33F probably benign Het
Slc16a7 T A 10: 125,230,933 Y279F probably damaging Het
Slc8a1 T C 17: 81,388,713 Y964C probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Sspo C A 6: 48,478,379 C3047* probably null Het
Tmprss11b C T 5: 86,667,323 probably null Het
Txnrd1 T G 10: 82,879,217 W98G probably damaging Het
Ulk1 A T 5: 110,809,134 I66N probably damaging Het
Ush2a A G 1: 188,822,696 Y3557C probably damaging Het
Vmn2r57 T A 7: 41,428,226 H172L probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfp592 T A 7: 81,041,726 C1218S probably benign Het
Other mutations in Lrrc30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00499:Lrrc30 APN 17 67632039 missense probably damaging 1.00
IGL00957:Lrrc30 APN 17 67632504 missense probably benign 0.00
R1666:Lrrc30 UTSW 17 67632205 missense probably benign 0.39
R1769:Lrrc30 UTSW 17 67631681 makesense probably null
R2079:Lrrc30 UTSW 17 67631880 missense possibly damaging 0.80
R3405:Lrrc30 UTSW 17 67632180 missense probably damaging 1.00
R3406:Lrrc30 UTSW 17 67632180 missense probably damaging 1.00
R4301:Lrrc30 UTSW 17 67632568 missense probably damaging 1.00
R6399:Lrrc30 UTSW 17 67632686 start gained probably benign
R6469:Lrrc30 UTSW 17 67631865 missense probably benign
R7079:Lrrc30 UTSW 17 67632021 missense possibly damaging 0.96
R7454:Lrrc30 UTSW 17 67632243 missense probably damaging 0.97
X0027:Lrrc30 UTSW 17 67632459 missense probably damaging 1.00
Z1088:Lrrc30 UTSW 17 67631695 missense possibly damaging 0.93
Posted On2015-04-16