Incidental Mutation 'IGL02500:Lrrc30'
ID 296002
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc30
Ensembl Gene ENSMUSG00000073375
Gene Name leucine rich repeat containing 30
Synonyms LOC240131
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02500
Quality Score
Status
Chromosome 17
Chromosomal Location 67937960-67939718 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 67938857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 241 (N241I)
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: 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: 118,856,338 (GRCm39) I409N possibly damaging Het
Aoc3 T A 11: 101,228,215 (GRCm39) L674* probably null Het
Arhgef10 G A 8: 15,011,238 (GRCm39) E265K probably damaging Het
Ccn1 T C 3: 145,354,455 (GRCm39) K152R probably damaging Het
Cd53 A G 3: 106,676,142 (GRCm39) I75T probably damaging Het
Col26a1 A T 5: 136,783,193 (GRCm39) L235* probably null Het
Crem G T 18: 3,273,477 (GRCm39) Q60K probably damaging Het
Cyp2j8 T C 4: 96,358,887 (GRCm39) D344G probably damaging Het
Dchs1 T C 7: 105,405,013 (GRCm39) T2510A probably benign Het
Dnajc4 T C 19: 6,965,456 (GRCm39) Q215R possibly damaging Het
Espl1 A G 15: 102,224,235 (GRCm39) H1262R probably benign Het
Exoc2 G T 13: 31,095,179 (GRCm39) T239K probably damaging Het
Fzd6 A T 15: 38,894,781 (GRCm39) S316C probably damaging Het
Htra1 A G 7: 130,586,704 (GRCm39) K429R probably benign Het
Il1rapl2 C T X: 137,747,252 (GRCm39) T647I possibly damaging Het
Kcnn3 T A 3: 89,568,419 (GRCm39) probably benign Het
Kiz G A 2: 146,705,733 (GRCm39) V98I probably benign Het
Klk1b24 A T 7: 43,837,748 (GRCm39) probably benign Het
Map2k4 A G 11: 65,587,136 (GRCm39) V288A probably damaging Het
Mefv T C 16: 3,531,441 (GRCm39) H459R probably damaging Het
Mettl21a G T 1: 64,647,213 (GRCm39) Q115K probably benign Het
Msra A G 14: 64,522,637 (GRCm39) probably benign Het
Myh8 G A 11: 67,196,536 (GRCm39) R1752H probably benign Het
Nrp1 T C 8: 129,152,280 (GRCm39) F163S possibly damaging Het
Ntng1 T A 3: 110,042,646 (GRCm39) Y60F probably damaging Het
Pax6 G T 2: 105,523,115 (GRCm39) R317L probably benign Het
Pcdh17 A G 14: 84,770,909 (GRCm39) E1129G probably benign Het
Phlpp2 C T 8: 110,640,250 (GRCm39) H472Y probably benign Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Prkce A G 17: 86,476,342 (GRCm39) N108D probably benign Het
Prkdc T G 16: 15,532,146 (GRCm39) probably null Het
Ptprm T C 17: 67,227,043 (GRCm39) Y702C probably damaging Het
Rbbp8nl T C 2: 179,921,122 (GRCm39) T421A possibly damaging Het
Retnlg A T 16: 48,693,323 (GRCm39) L33F probably benign Het
Slc16a7 T A 10: 125,066,802 (GRCm39) Y279F probably damaging Het
Slc8a1 T C 17: 81,696,142 (GRCm39) Y964C probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Sspo C A 6: 48,455,313 (GRCm39) C3047* probably null Het
Tmprss11b C T 5: 86,815,182 (GRCm39) probably null Het
Txnrd1 T G 10: 82,715,051 (GRCm39) W98G probably damaging Het
Ulk1 A T 5: 110,957,000 (GRCm39) I66N probably damaging Het
Ush2a A G 1: 188,554,893 (GRCm39) Y3557C probably damaging Het
Vmn2r57 T A 7: 41,077,650 (GRCm39) H172L probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfp592 T A 7: 80,691,474 (GRCm39) C1218S probably benign 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
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
R4301:Lrrc30 UTSW 17 67,939,563 (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
Posted On 2015-04-16