Incidental Mutation 'IGL02412:Lrrc17'
ID 294408
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc17
Ensembl Gene ENSMUSG00000039883
Gene Name leucine rich repeat containing 17
Synonyms 4833425M04Rik, 37kDa, 6130400C22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02412
Quality Score
Status
Chromosome 5
Chromosomal Location 21748557-21780902 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21765877 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 120 (S120T)
Ref Sequence ENSEMBL: ENSMUSP00000038569 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035651] [ENSMUST00000051358] [ENSMUST00000115234]
AlphaFold Q9CXD9
Predicted Effect possibly damaging
Transcript: ENSMUST00000035651
AA Change: S120T

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000038569
Gene: ENSMUSG00000039883
AA Change: S120T

DomainStartEndE-ValueType
low complexity region 33 45 N/A INTRINSIC
Blast:LRR 83 105 8e-6 BLAST
LRR 106 129 9.96e-1 SMART
LRR 130 153 1.07e0 SMART
LRRCT 165 215 8.98e-4 SMART
LRR 270 292 8.73e1 SMART
LRR 293 316 3.52e-1 SMART
LRR 317 340 7.55e-1 SMART
LRRCT 352 403 8.95e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000051358
SMART Domains Protein: ENSMUSP00000052716
Gene: ENSMUSG00000048520

DomainStartEndE-ValueType
low complexity region 160 173 N/A INTRINSIC
FBOX 243 283 3.73e-4 SMART
LRR_CC 328 353 6.62e-6 SMART
LRR 354 378 3.67e2 SMART
LRR 379 404 2.75e-3 SMART
LRR 407 425 4.51e2 SMART
LRR 426 451 2.63e0 SMART
LRR 476 501 4.15e1 SMART
LRR 502 526 1.82e1 SMART
LRR 529 554 1.76e-1 SMART
LRR_CC 555 580 4.61e-5 SMART
LRR 604 629 8.81e-2 SMART
LRR 630 655 2.37e1 SMART
LRR 656 681 3.21e-4 SMART
LRR 682 707 6.57e-1 SMART
LRR 708 733 9.47e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115234
SMART Domains Protein: ENSMUSP00000110889
Gene: ENSMUSG00000048520

DomainStartEndE-ValueType
low complexity region 160 173 N/A INTRINSIC
FBOX 243 283 3.73e-4 SMART
LRR_CC 328 353 6.62e-6 SMART
LRR 354 378 3.67e2 SMART
LRR 379 404 2.75e-3 SMART
LRR 407 432 6.88e-4 SMART
Blast:LRR 433 458 7e-8 BLAST
LRR 459 484 2.63e0 SMART
LRR 509 534 4.15e1 SMART
LRR 535 559 1.82e1 SMART
LRR 562 587 1.76e-1 SMART
LRR_CC 588 613 4.61e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137788
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted allele exhibit normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 T A 6: 85,605,854 (GRCm39) F2032L possibly damaging Het
Caps2 T C 10: 112,039,941 (GRCm39) probably null Het
Ccdc88b A T 19: 6,824,012 (GRCm39) F1414I probably damaging Het
Cr1l T G 1: 194,797,080 (GRCm39) Y319S probably damaging Het
Cr1l C T 1: 194,797,074 (GRCm39) G283E probably damaging Het
Csmd2 G A 4: 128,407,165 (GRCm39) probably benign Het
Dhx37 T A 5: 125,508,692 (GRCm39) K81M probably damaging Het
Dzip3 T A 16: 48,778,820 (GRCm39) M326L probably benign Het
Exosc10 A G 4: 148,652,849 (GRCm39) D488G probably benign Het
Gm2058 G A 7: 39,238,457 (GRCm39) noncoding transcript Het
Gm43638 T A 5: 87,633,995 (GRCm39) Q204L possibly damaging Het
Gm4847 T C 1: 166,469,307 (GRCm39) D119G probably damaging Het
Gnb3 A C 6: 124,814,425 (GRCm39) M120R probably benign Het
Il16 A C 7: 83,301,899 (GRCm39) D74E probably benign Het
Kpna1 T C 16: 35,851,561 (GRCm39) F382L probably benign Het
Krt33a G T 11: 99,902,805 (GRCm39) Q340K probably benign Het
Mapk3 C A 7: 126,362,210 (GRCm39) Y56* probably null Het
Mfhas1 C T 8: 36,055,969 (GRCm39) A148V probably benign Het
Npr2 A G 4: 43,647,005 (GRCm39) I713V probably damaging Het
Obp1a T A X: 77,131,980 (GRCm39) Y108F probably damaging Het
Or51f1d A T 7: 102,701,359 (GRCm39) M285L probably benign Het
Or5ac21 T A 16: 59,123,555 (GRCm39) L13H probably damaging Het
Or6n1 T C 1: 173,916,809 (GRCm39) F68L probably benign Het
Or7e178 T A 9: 20,225,935 (GRCm39) S86C probably benign Het
Pias1 A T 9: 62,800,421 (GRCm39) N430K probably benign Het
Ralgapa2 G T 2: 146,254,052 (GRCm39) A836D probably damaging Het
Rftn2 T C 1: 55,245,497 (GRCm39) E238G probably benign Het
Samt4 T G X: 153,267,118 (GRCm39) S86A probably damaging Het
Setd2 T C 9: 110,379,842 (GRCm39) M1219T probably benign Het
Sh3pxd2b T A 11: 32,337,992 (GRCm39) D99E probably damaging Het
Sh3rf1 A T 8: 61,825,723 (GRCm39) T573S probably benign Het
Sugct A G 13: 17,837,386 (GRCm39) W82R probably damaging Het
Syt4 T G 18: 31,576,896 (GRCm39) K153Q probably benign Het
Tbrg1 T C 9: 37,563,908 (GRCm39) probably null Het
Tex36 C T 7: 133,189,137 (GRCm39) R145K probably benign Het
Tfap2b A T 1: 19,289,427 (GRCm39) D166V probably damaging Het
Trhde T C 10: 114,322,830 (GRCm39) Y694C probably damaging Het
Trpc1 G A 9: 95,618,914 (GRCm39) L146F probably damaging Het
Ttc29 G A 8: 79,003,569 (GRCm39) E262K possibly damaging Het
Ttn A T 2: 76,547,293 (GRCm39) I32251N probably damaging Het
Ttn G T 2: 76,612,691 (GRCm39) D17129E probably benign Het
Ucma T A 2: 4,981,636 (GRCm39) I47N probably damaging Het
Vmn1r13 A T 6: 57,187,474 (GRCm39) K211M possibly damaging Het
Vmn2r95 A C 17: 18,660,218 (GRCm39) H210P probably damaging Het
Xpc T C 6: 91,476,767 (GRCm39) E444G probably benign Het
Yy1 T C 12: 108,760,023 (GRCm39) probably benign Het
Zfp217 A G 2: 169,954,422 (GRCm39) probably benign Het
Zfp318 T A 17: 46,720,043 (GRCm39) Y1080* probably null Het
Other mutations in Lrrc17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01098:Lrrc17 APN 5 21,780,269 (GRCm39) missense probably benign 0.05
IGL01289:Lrrc17 APN 5 21,765,899 (GRCm39) missense probably damaging 1.00
IGL01549:Lrrc17 APN 5 21,775,288 (GRCm39) missense probably benign 0.00
IGL02105:Lrrc17 APN 5 21,775,255 (GRCm39) missense probably benign 0.30
IGL02371:Lrrc17 APN 5 21,765,994 (GRCm39) missense probably damaging 1.00
IGL02587:Lrrc17 APN 5 21,766,078 (GRCm39) missense probably damaging 1.00
R0255:Lrrc17 UTSW 5 21,765,967 (GRCm39) missense probably benign 0.09
R0504:Lrrc17 UTSW 5 21,765,528 (GRCm39) missense probably benign 0.05
R0883:Lrrc17 UTSW 5 21,766,276 (GRCm39) missense probably benign 0.06
R1875:Lrrc17 UTSW 5 21,765,650 (GRCm39) missense possibly damaging 0.85
R2168:Lrrc17 UTSW 5 21,780,046 (GRCm39) missense probably damaging 0.97
R5057:Lrrc17 UTSW 5 21,780,307 (GRCm39) missense probably benign 0.25
R5326:Lrrc17 UTSW 5 21,780,156 (GRCm39) missense probably damaging 0.99
R5542:Lrrc17 UTSW 5 21,780,156 (GRCm39) missense probably damaging 0.99
R5574:Lrrc17 UTSW 5 21,775,355 (GRCm39) missense possibly damaging 0.90
R5872:Lrrc17 UTSW 5 21,780,264 (GRCm39) missense probably benign 0.01
R7108:Lrrc17 UTSW 5 21,780,337 (GRCm39) missense possibly damaging 0.93
R7715:Lrrc17 UTSW 5 21,766,078 (GRCm39) missense probably damaging 1.00
R7766:Lrrc17 UTSW 5 21,766,042 (GRCm39) missense probably benign 0.03
R8079:Lrrc17 UTSW 5 21,766,069 (GRCm39) missense probably damaging 0.99
R8121:Lrrc17 UTSW 5 21,775,329 (GRCm39) missense probably benign 0.00
R9067:Lrrc17 UTSW 5 21,766,033 (GRCm39) missense probably benign 0.10
X0026:Lrrc17 UTSW 5 21,766,018 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16