Incidental Mutation 'R0164:Lrrc49'
ID 24348
Institutional Source Beutler Lab
Gene Symbol Lrrc49
Ensembl Gene ENSMUSG00000047766
Gene Name leucine rich repeat containing 49
Synonyms D430025H09Rik
MMRRC Submission 038440-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R0164 (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 60587883 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 93 (T93I)
Ref Sequence ENSEMBL: ENSMUSP00000121491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065603] [ENSMUST00000114032] [ENSMUST00000114034] [ENSMUST00000132366] [ENSMUST00000150060] [ENSMUST00000166168]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000065603
AA Change: T99I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000070606
Gene: ENSMUSG00000047766
AA Change: T99I

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 benign
Transcript: ENSMUST00000114032
SMART Domains Protein: ENSMUSP00000109666
Gene: ENSMUSG00000047766

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 benign
Transcript: ENSMUST00000114034
SMART Domains Protein: ENSMUSP00000109668
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 noncoding transcript
Transcript: ENSMUST00000128877
Predicted Effect probably benign
Transcript: ENSMUST00000132366
AA Change: T93I

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
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 benign
Transcript: ENSMUST00000166168
AA Change: T93I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000128842
Gene: ENSMUSG00000047766
AA Change: T93I

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 69% (18/26)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T C 9: 124,057,789 (GRCm39) probably benign Het
4930522L14Rik T C 5: 109,884,713 (GRCm39) K382E probably damaging Het
Adck1 A G 12: 88,422,280 (GRCm39) E297G probably damaging Het
Aldh3a2 C T 11: 61,139,714 (GRCm39) V473I probably benign Het
Arfgef3 A T 10: 18,523,663 (GRCm39) I369K possibly damaging Het
Atp1b3 T C 9: 96,220,762 (GRCm39) I178V possibly damaging Het
Axdnd1 T C 1: 156,205,956 (GRCm39) E520G possibly damaging Het
BB019430 A T 10: 58,540,093 (GRCm39) noncoding transcript Het
Btbd1 T A 7: 81,450,751 (GRCm39) Q343L probably benign Het
Catsper1 A G 19: 5,389,503 (GRCm39) T473A possibly damaging Het
Ccn4 T C 15: 66,791,059 (GRCm39) L287P probably damaging Het
Chmp6 G A 11: 119,806,349 (GRCm39) probably null Het
Cstdc7 T A 18: 42,306,608 (GRCm39) D58E probably damaging Het
D130040H23Rik T C 8: 69,755,195 (GRCm39) V200A possibly damaging Het
D830013O20Rik C T 12: 73,411,105 (GRCm39) noncoding transcript Het
Dcaf1 T A 9: 106,721,344 (GRCm39) S379T possibly damaging Het
Dhx58 T C 11: 100,586,150 (GRCm39) I624V probably benign Het
Disp3 T C 4: 148,338,708 (GRCm39) E821G probably damaging Het
Dlc1 T A 8: 37,066,594 (GRCm39) E464V probably damaging Het
Dnah10 G A 5: 124,860,898 (GRCm39) V2151I probably damaging Het
Dnah8 G A 17: 30,967,639 (GRCm39) G2617D probably benign Het
Dnah9 C A 11: 65,809,630 (GRCm39) E872* probably null Het
Dock9 T C 14: 121,835,077 (GRCm39) Y99C probably damaging Het
Dpy19l3 T A 7: 35,416,071 (GRCm39) I310F probably damaging Het
Fggy A T 4: 95,725,891 (GRCm39) I137F probably damaging Het
Gm14012 C T 2: 128,079,936 (GRCm39) noncoding transcript Het
Gm14421 A T 2: 176,748,515 (GRCm39) noncoding transcript Het
Grin2a A G 16: 9,812,685 (GRCm39) probably null Het
Incenp A G 19: 9,872,243 (GRCm39) S72P probably benign Het
Klc3 T A 7: 19,128,851 (GRCm39) N469Y possibly damaging Het
Lrrc42 A G 4: 107,104,702 (GRCm39) S88P probably benign Het
Mlycd A T 8: 120,134,380 (GRCm39) Q294L probably damaging Het
Mrpl22 T A 11: 58,062,647 (GRCm39) I19N probably benign Het
Msh3 T A 13: 92,485,717 (GRCm39) K202N probably damaging Het
Mucl2 C T 15: 103,929,445 (GRCm39) probably null Het
Ncam1 C T 9: 49,479,709 (GRCm39) D90N probably damaging Het
Nckap5 A T 1: 125,952,144 (GRCm39) D1405E possibly damaging Het
Ncoa2 A G 1: 13,256,955 (GRCm39) probably null Het
Nlrp1b A T 11: 71,054,925 (GRCm39) W844R probably damaging Het
Nmnat1 G T 4: 149,553,607 (GRCm39) N168K possibly damaging Het
Or5b96 A G 19: 12,867,809 (GRCm39) L44P probably damaging Het
Ost4 T C 5: 31,064,803 (GRCm39) H26R probably damaging Het
Otog G A 7: 45,953,655 (GRCm39) V2638M probably damaging Het
Otogl A T 10: 107,710,391 (GRCm39) I566N probably damaging Het
Pcyt1a T C 16: 32,289,004 (GRCm39) S282P probably damaging Het
Prkcg G A 7: 3,377,635 (GRCm39) E581K probably damaging Het
Ralgps2 A G 1: 156,714,659 (GRCm39) probably null Het
Scmh1 T C 4: 120,387,062 (GRCm39) probably benign Het
Sgo2b T C 8: 64,391,417 (GRCm39) H150R possibly damaging Het
Sh2b3 T G 5: 121,967,100 (GRCm39) T5P probably damaging Het
Tdp2 A G 13: 25,022,222 (GRCm39) M214V probably damaging Het
Tmem204 A G 17: 25,277,324 (GRCm39) I187T probably damaging Het
Tmem208 T G 8: 106,061,326 (GRCm39) D117E probably benign Het
Tnks1bp1 C T 2: 84,889,565 (GRCm39) P631S possibly damaging Het
Tomm70a T C 16: 56,968,184 (GRCm39) V517A probably damaging Het
Ttc7 T C 17: 87,687,323 (GRCm39) V801A probably damaging Het
Txndc5 A T 13: 38,691,929 (GRCm39) C146S probably damaging Het
Ube4b G T 4: 149,444,781 (GRCm39) T493K probably damaging Het
Ufl1 A T 4: 25,256,008 (GRCm39) Y504N probably benign Het
Ulk3 T A 9: 57,497,969 (GRCm39) I90N probably damaging Het
Unc13c T C 9: 73,602,174 (GRCm39) I1357M probably benign Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Vmn2r91 A C 17: 18,326,399 (GRCm39) N228T probably benign Het
Zbtb6 G T 2: 37,319,600 (GRCm39) Y109* probably null Het
Zfp640 G T 13: 66,819,062 (GRCm39) noncoding transcript Het
Zfp640 C A 13: 66,819,038 (GRCm39) noncoding transcript Het
Zfp980 A G 4: 145,428,567 (GRCm39) D432G probably benign 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
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
Predicted Primers
Posted On 2013-04-16