Incidental Mutation 'R1800:Lrrc49'
ID 203045
Institutional Source Beutler Lab
Gene Symbol Lrrc49
Ensembl Gene ENSMUSG00000047766
Gene Name leucine rich repeat containing 49
Synonyms D430025H09Rik
MMRRC Submission 039830-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R1800 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 60494507-60595460 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 60505474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 527 (T527I)
Ref Sequence ENSEMBL: ENSMUSP00000109666 (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: T239I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057014
Gene: ENSMUSG00000047766
AA Change: T239I

DomainStartEndE-ValueType
low complexity region 18 34 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000065603
AA Change: T599I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000070606
Gene: ENSMUSG00000047766
AA Change: T599I

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: T527I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109666
Gene: ENSMUSG00000047766
AA Change: T527I

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 possibly damaging
Transcript: ENSMUST00000114034
AA Change: T533I

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109668
Gene: ENSMUSG00000047766
AA Change: T533I

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: T593I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128842
Gene: ENSMUSG00000047766
AA Change: T593I

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
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,772,479 (GRCm39) K556R probably damaging Het
4933406P04Rik A T 10: 20,186,893 (GRCm39) probably benign Het
Acmsd C A 1: 127,687,493 (GRCm39) Y258* probably null Het
Adgrf5 A T 17: 43,761,973 (GRCm39) I1223F probably damaging Het
Afp C T 5: 90,638,655 (GRCm39) P6S probably benign Het
Agap2 C A 10: 126,927,540 (GRCm39) H1120Q probably damaging Het
Angpt1 A G 15: 42,375,800 (GRCm39) V152A probably damaging Het
Ankrd1 A T 19: 36,096,759 (GRCm39) F23I probably damaging Het
Armc12 T C 17: 28,757,869 (GRCm39) S334P possibly damaging Het
Arnt2 C A 7: 83,924,583 (GRCm39) D415Y probably damaging Het
Cacna1s G T 1: 136,004,592 (GRCm39) V131L probably benign Het
Cacna2d2 T C 9: 107,404,632 (GRCm39) V1141A possibly damaging Het
Cfap61 T C 2: 145,884,542 (GRCm39) L580P probably damaging Het
Chga A T 12: 102,522,164 (GRCm39) S23C probably damaging Het
Chrna5 A G 9: 54,912,159 (GRCm39) T320A probably damaging Het
Col17a1 G T 19: 47,639,301 (GRCm39) N1081K possibly damaging Het
Cox7b2 A T 5: 71,600,406 (GRCm39) C51S possibly damaging Het
Cstdc3 T A 16: 36,132,895 (GRCm39) D57E probably damaging Het
Cwc22 A T 2: 77,759,797 (GRCm39) D83E possibly damaging Het
D130043K22Rik A C 13: 25,067,877 (GRCm39) D871A probably damaging Het
Dab2 A T 15: 6,464,948 (GRCm39) M361L probably benign Het
Dnah11 A C 12: 117,880,523 (GRCm39) Y3866D probably damaging Het
Dnmbp A G 19: 43,890,159 (GRCm39) I536T probably benign Het
Ehmt1 A T 2: 24,774,302 (GRCm39) S43R probably damaging Het
Ercc5 T C 1: 44,212,540 (GRCm39) L666P probably benign Het
F5 A G 1: 164,010,403 (GRCm39) H378R probably damaging Het
Fat2 A T 11: 55,174,718 (GRCm39) N1998K probably damaging Het
Fbxo28 T C 1: 182,169,099 (GRCm39) D13G unknown Het
Fras1 T C 5: 96,857,741 (GRCm39) S2012P probably benign Het
Gm5624 T A 14: 44,799,302 (GRCm39) N41I probably damaging Het
Gm8104 A G 14: 42,959,028 (GRCm39) I73V possibly damaging Het
Gpr141b T C 13: 19,913,849 (GRCm39) noncoding transcript Het
Gpr68 G A 12: 100,845,167 (GRCm39) P126S probably damaging Het
Gucy1a2 A T 9: 3,582,685 (GRCm39) T156S possibly damaging Het
Hacl1 T A 14: 31,336,221 (GRCm39) Y429F probably damaging Het
Haus3 A C 5: 34,320,916 (GRCm39) L510R probably damaging Het
Helq C T 5: 100,921,990 (GRCm39) G738D probably benign Het
Hsd3b2 G C 3: 98,619,553 (GRCm39) P131A probably damaging Het
Il22ra1 G T 4: 135,475,471 (GRCm39) C247F probably benign Het
Ivl T C 3: 92,479,891 (GRCm39) E58G unknown Het
Kcnk9 G T 15: 72,417,948 (GRCm39) Q61K probably benign Het
Kremen1 CGGG CGGGGGG 11: 5,151,791 (GRCm39) probably benign Het
Loxhd1 G T 18: 77,490,198 (GRCm39) A1314S probably damaging Het
Lratd1 T C 12: 14,200,226 (GRCm39) Y167C probably damaging Het
Lrba A G 3: 86,259,175 (GRCm39) I1397V probably benign Het
Lrig3 T A 10: 125,832,920 (GRCm39) probably null Het
Lrrc36 A G 8: 106,176,397 (GRCm39) D378G probably damaging Het
Map4k4 C A 1: 40,062,620 (GRCm39) T1195K probably damaging Het
Mrps33 G A 6: 39,779,429 (GRCm39) R89C probably damaging Het
Mtor T C 4: 148,547,349 (GRCm39) V444A probably benign Het
Myh2 A G 11: 67,079,764 (GRCm39) E1046G probably damaging Het
Myo15b G T 11: 115,771,335 (GRCm39) probably null Het
Myo5c T C 9: 75,153,446 (GRCm39) Y111H probably damaging Het
Ncoa4-ps A T 12: 119,225,506 (GRCm39) noncoding transcript Het
Ndufv2 G C 17: 66,390,481 (GRCm39) T163R probably damaging Het
Nf1 A G 11: 79,444,794 (GRCm39) N373S possibly damaging Het
Nwd2 A G 5: 63,962,917 (GRCm39) M834V probably benign Het
Ogfod2 T C 5: 124,253,019 (GRCm39) V343A probably damaging Het
Or11g2 C T 14: 50,856,143 (GRCm39) L155F probably benign Het
Or11j4 C A 14: 50,630,786 (GRCm39) S191* probably null Het
Or3a1b A T 11: 74,012,234 (GRCm39) T40S probably benign Het
Or4c115 T A 2: 88,928,050 (GRCm39) T74S probably benign Het
Or51ag1 T C 7: 103,155,248 (GRCm39) I302V possibly damaging Het
Or52ab2 T A 7: 102,969,621 (GRCm39) M1K probably null Het
Or8g34 A T 9: 39,373,410 (GRCm39) I228F probably damaging Het
Parp1 T A 1: 180,428,091 (GRCm39) probably null Het
Ppp3ca A T 3: 136,640,792 (GRCm39) I448F probably damaging Het
Prss44 T C 9: 110,646,272 (GRCm39) V333A probably damaging Het
Pxk C T 14: 8,151,507 (GRCm38) R441* probably null Het
Rars1 A C 11: 35,716,822 (GRCm39) D231E probably benign Het
Rfc1 T C 5: 65,421,722 (GRCm39) Y1059C probably damaging Het
Rilpl1 T A 5: 124,652,719 (GRCm39) I2F probably damaging Het
Sarm1 G T 11: 78,381,820 (GRCm39) A221E possibly damaging Het
Serpina3f A G 12: 104,183,665 (GRCm39) T176A probably damaging Het
Slc22a20 T C 19: 6,035,695 (GRCm39) E131G probably benign Het
Slc26a11 T C 11: 119,263,979 (GRCm39) V343A probably damaging Het
Slc2a4 A G 11: 69,837,133 (GRCm39) I9T probably benign Het
Slc39a6 G T 18: 24,718,259 (GRCm39) D599E probably damaging Het
Slc5a6 G T 5: 31,198,020 (GRCm39) S285* probably null Het
Spata9 A G 13: 76,125,760 (GRCm39) H81R probably benign Het
St7l A G 3: 104,826,812 (GRCm39) E436G probably damaging Het
Tecrl A G 5: 83,427,077 (GRCm39) I357T probably damaging Het
Thop1 C T 10: 80,909,043 (GRCm39) R25C probably damaging Het
Tmprss12 A G 15: 100,190,428 (GRCm39) E266G probably benign Het
Tpgs1 T A 10: 79,511,344 (GRCm39) V162D possibly damaging Het
Trpa1 C T 1: 14,944,648 (GRCm39) R1032Q probably benign Het
Tspan12 A G 6: 21,795,699 (GRCm39) Y164H probably damaging Het
Ubr4 T C 4: 139,135,274 (GRCm39) Y869H probably damaging Het
Vmn1r21 A G 6: 57,820,799 (GRCm39) I215T probably benign Het
Zan A T 5: 137,384,713 (GRCm39) S5104T unknown Het
Zfp318 T C 17: 46,722,980 (GRCm39) V1661A probably benign Het
Zfp365 C T 10: 67,724,772 (GRCm39) R372K probably damaging 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
IGL03244:Lrrc49 APN 9 60,495,140 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ACAAGATTAGCCTGGGGTACG -3'
(R):5'- CAGGAGTCACATTTGAGCATCTC -3'

Sequencing Primer
(F):5'- CAAGATTAGCCTGGGGTACGTTTTC -3'
(R):5'- TGAGCATCTCCTCTGTAATTAGAC -3'
Posted On 2014-06-23