Incidental Mutation 'IGL03244:Lrrc49'
ID 414357
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc49
Ensembl Gene ENSMUSG00000047766
Gene Name leucine rich repeat containing 49
Synonyms D430025H09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # IGL03244
Quality Score
Status
Chromosome 9
Chromosomal Location 60494507-60595460 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60495140 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 691 (Y691C)
Ref Sequence ENSEMBL: ENSMUSP00000128842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053171] [ENSMUST00000065603] [ENSMUST00000114032] [ENSMUST00000114034] [ENSMUST00000150060] [ENSMUST00000166168]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000053171
AA Change: Y337C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057014
Gene: ENSMUSG00000047766
AA Change: Y337C

DomainStartEndE-ValueType
low complexity region 18 34 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000065603
AA Change: Y697C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070606
Gene: ENSMUSG00000047766
AA Change: Y697C

DomainStartEndE-ValueType
LRR 199 221 2.84e1 SMART
LRR 243 264 1.49e1 SMART
LRR 265 286 1.37e2 SMART
LRR 287 308 1.62e1 SMART
LRR 309 332 6.77e0 SMART
low complexity region 378 394 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114032
AA Change: Y625C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109666
Gene: ENSMUSG00000047766
AA Change: Y625C

DomainStartEndE-ValueType
LRR 127 149 2.84e1 SMART
LRR 171 192 1.49e1 SMART
LRR 193 214 1.37e2 SMART
LRR 215 236 1.62e1 SMART
LRR 237 260 6.77e0 SMART
low complexity region 306 322 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114034
AA Change: Y631C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109668
Gene: ENSMUSG00000047766
AA Change: Y631C

DomainStartEndE-ValueType
LRR 133 155 2.84e1 SMART
LRR 177 198 1.49e1 SMART
LRR 199 220 1.37e2 SMART
LRR 221 242 1.62e1 SMART
LRR 243 266 6.77e0 SMART
low complexity region 312 328 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136388
Predicted Effect probably benign
Transcript: ENSMUST00000150060
SMART Domains Protein: ENSMUSP00000118205
Gene: ENSMUSG00000047766

DomainStartEndE-ValueType
LRR 133 155 2.84e1 SMART
LRR 177 198 1.49e1 SMART
LRR 199 220 1.37e2 SMART
LRR 221 242 1.62e1 SMART
LRR 243 266 6.77e0 SMART
low complexity region 312 328 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000166168
AA Change: Y691C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128842
Gene: ENSMUSG00000047766
AA Change: Y691C

DomainStartEndE-ValueType
LRR 193 215 2.84e1 SMART
LRR 237 258 1.49e1 SMART
LRR 259 280 1.37e2 SMART
LRR 281 302 1.62e1 SMART
LRR 303 326 6.77e0 SMART
low complexity region 372 388 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Aoc1 T C 6: 48,882,756 (GRCm39) Y233H possibly damaging Het
Apaf1 A T 10: 90,885,211 (GRCm39) probably benign Het
Asah2 T C 19: 31,964,342 (GRCm39) Y696C probably damaging Het
Atp8b3 A T 10: 80,370,292 (GRCm39) D112E probably damaging Het
B3gat3 T C 19: 8,903,215 (GRCm39) Y191H probably damaging Het
Capns2 T C 8: 93,628,738 (GRCm39) I209T probably damaging Het
Ccnl2 T C 4: 155,905,479 (GRCm39) I303T probably benign Het
Cdk5rap2 A T 4: 70,199,672 (GRCm39) S817R probably benign Het
Cep57 A T 9: 13,729,683 (GRCm39) L36* probably null Het
Cers4 T A 8: 4,566,878 (GRCm39) V60E probably damaging Het
Ces2e T C 8: 105,655,451 (GRCm39) Y125H probably benign Het
Cyp4f18 T C 8: 72,742,489 (GRCm39) E497G probably benign Het
Ddx24 A T 12: 103,383,864 (GRCm39) M575K possibly damaging Het
Dmxl2 A T 9: 54,323,655 (GRCm39) V1243E probably damaging Het
Elf2 A T 3: 51,165,193 (GRCm39) Y270* probably null Het
Ep400 A G 5: 110,875,429 (GRCm39) L844S unknown Het
F13a1 A T 13: 37,172,870 (GRCm39) I170N possibly damaging Het
Gm16506 T A 14: 43,961,603 (GRCm39) probably benign Het
Grm4 A G 17: 27,653,797 (GRCm39) F463L probably damaging Het
H2-M10.2 A T 17: 36,596,463 (GRCm39) N127K probably benign Het
Mbip A C 12: 56,384,547 (GRCm39) probably null Het
Or9k2 T A 10: 129,998,269 (GRCm39) K309* probably null Het
Plod1 C T 4: 148,007,580 (GRCm39) probably null Het
Primpol A G 8: 47,039,475 (GRCm39) W382R probably damaging Het
Rufy2 A G 10: 62,840,483 (GRCm39) E418G probably benign Het
Samm50 T C 15: 84,098,341 (GRCm39) V460A probably benign Het
Senp2 T C 16: 21,859,329 (GRCm39) V460A probably damaging Het
Simc1 A G 13: 54,698,442 (GRCm39) H453R probably benign Het
Slc22a22 A G 15: 57,112,948 (GRCm39) probably benign Het
Spag1 A T 15: 36,234,529 (GRCm39) D763V probably benign Het
Thsd7a T A 6: 12,504,167 (GRCm39) probably benign Het
Tppp G T 13: 74,169,535 (GRCm39) V92F possibly damaging Het
Vmn1r32 G A 6: 66,530,489 (GRCm39) L96F probably damaging Het
Vmn2r53 C A 7: 12,340,435 (GRCm39) A13S probably damaging Het
Vmn2r75 G A 7: 85,820,933 (GRCm39) probably benign Het
Zfp750 C A 11: 121,404,513 (GRCm39) G121* probably null Het
Other mutations in Lrrc49
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00156:Lrrc49 APN 9 60,508,603 (GRCm39) missense probably damaging 1.00
IGL00468:Lrrc49 APN 9 60,595,151 (GRCm39) unclassified probably benign
IGL00792:Lrrc49 APN 9 60,595,121 (GRCm39) missense probably damaging 0.97
IGL02252:Lrrc49 APN 9 60,595,142 (GRCm39) start codon destroyed probably benign 0.04
IGL02830:Lrrc49 APN 9 60,592,393 (GRCm39) missense probably damaging 1.00
IGL03103:Lrrc49 APN 9 60,592,316 (GRCm39) critical splice donor site probably null
IGL03223:Lrrc49 APN 9 60,595,128 (GRCm39) missense possibly damaging 0.72
IGL03392:Lrrc49 APN 9 60,573,563 (GRCm39) splice site probably benign
IGL02837:Lrrc49 UTSW 9 60,517,605 (GRCm39) missense probably benign 0.00
R0164:Lrrc49 UTSW 9 60,587,883 (GRCm39) missense probably benign 0.26
R0164:Lrrc49 UTSW 9 60,587,883 (GRCm39) missense probably benign 0.26
R0335:Lrrc49 UTSW 9 60,584,378 (GRCm39) missense probably damaging 0.99
R0399:Lrrc49 UTSW 9 60,517,529 (GRCm39) splice site probably benign
R0607:Lrrc49 UTSW 9 60,573,640 (GRCm39) missense probably benign 0.35
R1396:Lrrc49 UTSW 9 60,587,810 (GRCm39) missense probably damaging 0.99
R1731:Lrrc49 UTSW 9 60,528,914 (GRCm39) missense probably damaging 1.00
R1800:Lrrc49 UTSW 9 60,505,474 (GRCm39) missense probably damaging 1.00
R1817:Lrrc49 UTSW 9 60,510,059 (GRCm39) missense possibly damaging 0.94
R1876:Lrrc49 UTSW 9 60,495,060 (GRCm39) missense possibly damaging 0.77
R1925:Lrrc49 UTSW 9 60,556,773 (GRCm39) missense probably benign 0.07
R2172:Lrrc49 UTSW 9 60,509,965 (GRCm39) missense probably benign 0.25
R2233:Lrrc49 UTSW 9 60,505,440 (GRCm39) missense possibly damaging 0.57
R2235:Lrrc49 UTSW 9 60,505,440 (GRCm39) missense possibly damaging 0.57
R2927:Lrrc49 UTSW 9 60,501,029 (GRCm39) nonsense probably null
R3955:Lrrc49 UTSW 9 60,578,642 (GRCm39) missense probably damaging 1.00
R4214:Lrrc49 UTSW 9 60,573,609 (GRCm39) missense probably benign 0.33
R4772:Lrrc49 UTSW 9 60,592,335 (GRCm39) missense possibly damaging 0.93
R5283:Lrrc49 UTSW 9 60,594,461 (GRCm39) missense probably benign 0.06
R5801:Lrrc49 UTSW 9 60,509,916 (GRCm39) missense probably damaging 1.00
R6115:Lrrc49 UTSW 9 60,522,444 (GRCm39) missense possibly damaging 0.61
R6488:Lrrc49 UTSW 9 60,509,916 (GRCm39) missense probably damaging 1.00
R6525:Lrrc49 UTSW 9 60,505,432 (GRCm39) missense probably damaging 1.00
R6540:Lrrc49 UTSW 9 60,592,335 (GRCm39) missense possibly damaging 0.93
R6550:Lrrc49 UTSW 9 60,584,430 (GRCm39) missense probably benign 0.13
R6603:Lrrc49 UTSW 9 60,501,052 (GRCm39) splice site probably null
R6878:Lrrc49 UTSW 9 60,587,431 (GRCm39) missense probably damaging 0.99
R7144:Lrrc49 UTSW 9 60,522,439 (GRCm39) missense probably damaging 0.99
R7336:Lrrc49 UTSW 9 60,584,474 (GRCm39) missense possibly damaging 0.92
R7541:Lrrc49 UTSW 9 60,517,686 (GRCm39) missense probably damaging 1.00
R7608:Lrrc49 UTSW 9 60,510,005 (GRCm39) missense probably null 1.00
R7739:Lrrc49 UTSW 9 60,500,975 (GRCm39) missense probably benign
R8097:Lrrc49 UTSW 9 60,522,331 (GRCm39) missense probably benign
R8220:Lrrc49 UTSW 9 60,517,613 (GRCm39) missense probably benign
R8442:Lrrc49 UTSW 9 60,500,908 (GRCm39) missense probably benign 0.01
R8458:Lrrc49 UTSW 9 60,505,456 (GRCm39) missense probably benign 0.00
R8692:Lrrc49 UTSW 9 60,594,445 (GRCm39) missense probably damaging 0.97
R9036:Lrrc49 UTSW 9 60,495,150 (GRCm39) missense probably benign 0.17
R9126:Lrrc49 UTSW 9 60,578,594 (GRCm39) missense probably damaging 1.00
R9339:Lrrc49 UTSW 9 60,510,031 (GRCm39) missense probably benign 0.04
R9456:Lrrc49 UTSW 9 60,594,699 (GRCm39) missense probably benign 0.01
R9661:Lrrc49 UTSW 9 60,573,582 (GRCm39) missense probably damaging 1.00
Z1176:Lrrc49 UTSW 9 60,584,504 (GRCm39) missense probably damaging 0.99
Z1177:Lrrc49 UTSW 9 60,505,376 (GRCm39) missense possibly damaging 0.94
Posted On 2016-08-02