Incidental Mutation 'R2103:Lrrc47'
ID 230667
Institutional Source Beutler Lab
Gene Symbol Lrrc47
Ensembl Gene ENSMUSG00000029028
Gene Name leucine rich repeat containing 47
Synonyms 2900010D03Rik
MMRRC Submission 040107-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.240) question?
Stock # R2103 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 154096260-154105969 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 154100350 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 287 (R287W)
Ref Sequence ENSEMBL: ENSMUSP00000030894 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030894] [ENSMUST00000143047] [ENSMUST00000169622] [ENSMUST00000182151] [ENSMUST00000182191]
AlphaFold Q505F5
Predicted Effect probably damaging
Transcript: ENSMUST00000030894
AA Change: R287W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030894
Gene: ENSMUSG00000029028
AA Change: R287W

DomainStartEndE-ValueType
low complexity region 1 7 N/A INTRINSIC
low complexity region 10 36 N/A INTRINSIC
low complexity region 43 54 N/A INTRINSIC
LRR_TYP 100 123 2.61e-4 SMART
LRR_TYP 130 153 2.12e-4 SMART
LRR 155 177 3.75e0 SMART
LRR 180 202 9.77e1 SMART
LRR_TYP 203 226 2.27e-4 SMART
low complexity region 261 272 N/A INTRINSIC
low complexity region 277 292 N/A INTRINSIC
B3_4 331 507 8.94e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142794
Predicted Effect probably benign
Transcript: ENSMUST00000143047
SMART Domains Protein: ENSMUSP00000138733
Gene: ENSMUSG00000078350

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
transmembrane domain 53 75 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163672
Predicted Effect probably benign
Transcript: ENSMUST00000167947
SMART Domains Protein: ENSMUSP00000131382
Gene: ENSMUSG00000029028

DomainStartEndE-ValueType
Pfam:B3_4 1 54 1.1e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000169622
AA Change: R309W

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000133124
Gene: ENSMUSG00000029028
AA Change: R309W

DomainStartEndE-ValueType
low complexity region 22 29 N/A INTRINSIC
low complexity region 32 58 N/A INTRINSIC
low complexity region 65 76 N/A INTRINSIC
LRR_TYP 122 145 2.61e-4 SMART
LRR_TYP 152 175 2.12e-4 SMART
LRR 177 199 3.75e0 SMART
LRR 202 224 9.77e1 SMART
LRR_TYP 225 248 2.27e-4 SMART
low complexity region 283 294 N/A INTRINSIC
low complexity region 299 314 N/A INTRINSIC
B3_4 353 529 8.94e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182151
SMART Domains Protein: ENSMUSP00000138692
Gene: ENSMUSG00000078350

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
transmembrane domain 53 75 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182191
SMART Domains Protein: ENSMUSP00000138710
Gene: ENSMUSG00000078350

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac C A 3: 59,947,235 (GRCm39) P311Q probably damaging Het
Acoxl T A 2: 127,814,526 (GRCm39) M314K probably damaging Het
Agmat A T 4: 141,483,214 (GRCm39) D216V probably damaging Het
Aida A T 1: 183,094,627 (GRCm39) E107D probably benign Het
Ano5 A G 7: 51,187,561 (GRCm39) K50R possibly damaging Het
Anxa2 A T 9: 69,391,098 (GRCm39) D95V probably damaging Het
Aspm G A 1: 139,419,403 (GRCm39) V3023M probably damaging Het
Atg16l2 A G 7: 100,939,568 (GRCm39) probably null Het
B3galt4 G A 17: 34,169,813 (GRCm39) R142C probably damaging Het
B3galt5 A T 16: 96,117,225 (GRCm39) K286M probably damaging Het
Best3 A C 10: 116,838,499 (GRCm39) I186L probably benign Het
Blm G T 7: 80,155,697 (GRCm39) probably null Het
Cat A T 2: 103,293,660 (GRCm39) D389E probably damaging Het
Cert1 T A 13: 96,771,394 (GRCm39) N550K probably damaging Het
Cluh C A 11: 74,550,355 (GRCm39) C222* probably null Het
Cntnap2 G A 6: 47,275,522 (GRCm39) E1325K probably damaging Het
Col14a1 A T 15: 55,313,336 (GRCm39) D1320V unknown Het
Cpne7 A G 8: 123,854,176 (GRCm39) K288E possibly damaging Het
Cyp26b1 A G 6: 84,552,032 (GRCm39) S369P possibly damaging Het
Cyp2j9 T A 4: 96,460,201 (GRCm39) K434M probably damaging Het
Dpyd G C 3: 118,858,601 (GRCm39) S605T probably benign Het
Dst A G 1: 34,229,339 (GRCm39) T1986A probably benign Het
Ebf2 T A 14: 67,625,391 (GRCm39) V233D probably damaging Het
Ecm2 A G 13: 49,683,732 (GRCm39) D570G probably benign Het
Efhc1 T A 1: 21,059,784 (GRCm39) C611* probably null Het
Epop T C 11: 97,519,480 (GRCm39) T210A probably benign Het
Fdxacb1 A T 9: 50,682,946 (GRCm39) N101I probably benign Het
Fezf1 A G 6: 23,247,331 (GRCm39) F248S possibly damaging Het
Galnt16 A G 12: 80,630,430 (GRCm39) D262G probably damaging Het
Gm9507 T A 10: 77,647,500 (GRCm39) probably benign Het
Grin2b A T 6: 135,757,138 (GRCm39) I441N probably benign Het
H2-Eb2 A G 17: 34,553,278 (GRCm39) I155V probably benign Het
Hectd4 C A 5: 121,493,692 (GRCm39) D3811E probably benign Het
Herc4 T C 10: 63,081,889 (GRCm39) S71P probably benign Het
Hhipl1 A G 12: 108,293,977 (GRCm39) T628A probably benign Het
Hoga1 A C 19: 42,048,459 (GRCm39) probably null Het
Igf2bp1 A G 11: 95,866,122 (GRCm39) V122A probably damaging Het
Il10ra C A 9: 45,167,109 (GRCm39) A481S probably benign Het
Klk1b26 A T 7: 43,666,324 (GRCm39) T256S probably damaging Het
Kndc1 C T 7: 139,501,150 (GRCm39) T813I probably benign Het
Limch1 A G 5: 67,156,072 (GRCm39) K394R probably benign Het
Lrrc37a T C 11: 103,391,087 (GRCm39) E1446G probably benign Het
Mdn1 T A 4: 32,738,712 (GRCm39) L3555Q possibly damaging Het
Mei1 A G 15: 81,987,405 (GRCm39) H399R possibly damaging Het
Mei1 G T 15: 81,991,237 (GRCm39) V472F probably damaging Het
Mrps34 T A 17: 25,114,464 (GRCm39) probably null Het
Myom3 A G 4: 135,503,723 (GRCm39) T391A probably benign Het
Nfib G A 4: 82,248,645 (GRCm39) T314I possibly damaging Het
Or5b99 T C 19: 12,976,866 (GRCm39) V172A possibly damaging Het
Or5p73 A G 7: 108,064,810 (GRCm39) N93S probably benign Het
Or6c5 T C 10: 129,074,368 (GRCm39) S117P probably damaging Het
Or9a2 A G 6: 41,748,939 (GRCm39) I98T probably benign Het
Pdia3 G C 2: 121,264,474 (GRCm39) G346A probably damaging Het
Plce1 T C 19: 38,766,368 (GRCm39) F2117S probably damaging Het
Plec A G 15: 76,057,743 (GRCm39) F4055L probably damaging Het
Ppip5k1 A T 2: 121,152,134 (GRCm39) probably null Het
Psma6 T C 12: 55,454,842 (GRCm39) I57T probably benign Het
Psme2 A T 14: 55,828,297 (GRCm39) probably null Het
Reln A T 5: 22,174,358 (GRCm39) D1948E possibly damaging Het
Rsf1 GGCG GGCGACGGCAGCG 7: 97,229,113 (GRCm39) probably benign Het
Sbno1 G T 5: 124,532,000 (GRCm39) S727R probably damaging Het
Serpina3m C A 12: 104,355,958 (GRCm39) Y208* probably null Het
Serpind1 T C 16: 17,160,808 (GRCm39) V446A probably benign Het
Shc3 T A 13: 51,596,872 (GRCm39) M384L probably benign Het
Slc38a11 A G 2: 65,160,683 (GRCm39) F304L probably benign Het
Slc4a5 A C 6: 83,201,663 (GRCm39) D4A probably benign Het
Slc4a5 G A 6: 83,274,360 (GRCm39) A1076T probably benign Het
Slpi C T 2: 164,197,463 (GRCm39) C28Y probably damaging Het
Sptan1 T C 2: 29,920,483 (GRCm39) S2320P probably damaging Het
Stim2 A G 5: 54,262,591 (GRCm39) T278A possibly damaging Het
Sympk T A 7: 18,788,041 (GRCm39) S1186T probably benign Het
Tbrg1 T C 9: 37,560,715 (GRCm39) D387G probably benign Het
Tns2 A T 15: 102,021,100 (GRCm39) probably null Het
Tnxb A G 17: 34,901,225 (GRCm39) Y1013C probably damaging Het
Tpsg1 T C 17: 25,592,267 (GRCm39) S41P possibly damaging Het
Trim36 T C 18: 46,329,149 (GRCm39) N85S probably benign Het
Trpm6 A T 19: 18,773,648 (GRCm39) H380L probably benign Het
Tssk4 A G 14: 55,888,997 (GRCm39) I174M probably damaging Het
Ttn C T 2: 76,776,735 (GRCm39) probably null Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Vmn2r4 T A 3: 64,322,704 (GRCm39) N5I possibly damaging Het
Vps11 G A 9: 44,270,524 (GRCm39) H183Y probably damaging Het
Vsig10l A G 7: 43,116,892 (GRCm39) T476A possibly damaging Het
Vwa8 C T 14: 79,145,670 (GRCm39) R116C probably damaging Het
Vwf G A 6: 125,623,293 (GRCm39) V1797I probably benign Het
Wasl A T 6: 24,618,377 (GRCm39) S447T unknown Het
Whamm C T 7: 81,241,519 (GRCm39) R277* probably null Het
Zfp874a T A 13: 67,590,623 (GRCm39) I354F probably benign Het
Other mutations in Lrrc47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02502:Lrrc47 APN 4 154,100,471 (GRCm39) missense probably benign 0.01
IGL02614:Lrrc47 APN 4 154,103,392 (GRCm39) splice site probably null
IGL03001:Lrrc47 APN 4 154,100,450 (GRCm39) missense probably damaging 0.99
R0372:Lrrc47 UTSW 4 154,104,089 (GRCm39) missense probably benign 0.00
R0433:Lrrc47 UTSW 4 154,102,822 (GRCm39) unclassified probably benign
R0720:Lrrc47 UTSW 4 154,104,344 (GRCm39) splice site probably null
R1163:Lrrc47 UTSW 4 154,096,274 (GRCm39) start codon destroyed probably null
R2078:Lrrc47 UTSW 4 154,103,888 (GRCm39) missense probably damaging 1.00
R5105:Lrrc47 UTSW 4 154,096,673 (GRCm39) missense probably damaging 1.00
R5109:Lrrc47 UTSW 4 154,101,933 (GRCm39) missense probably damaging 0.99
R5687:Lrrc47 UTSW 4 154,100,140 (GRCm39) missense probably benign 0.10
R5885:Lrrc47 UTSW 4 154,100,429 (GRCm39) missense possibly damaging 0.75
R6198:Lrrc47 UTSW 4 154,100,129 (GRCm39) missense probably damaging 1.00
R6384:Lrrc47 UTSW 4 154,100,317 (GRCm39) missense probably benign 0.00
R7040:Lrrc47 UTSW 4 154,104,909 (GRCm39) makesense probably null
R7680:Lrrc47 UTSW 4 154,100,558 (GRCm39) missense probably benign 0.00
R8263:Lrrc47 UTSW 4 154,100,486 (GRCm39) missense probably damaging 1.00
R9092:Lrrc47 UTSW 4 154,096,421 (GRCm39) missense possibly damaging 0.79
R9364:Lrrc47 UTSW 4 154,100,398 (GRCm39) missense possibly damaging 0.78
R9483:Lrrc47 UTSW 4 154,101,920 (GRCm39) missense probably damaging 1.00
R9706:Lrrc47 UTSW 4 154,096,487 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTGCAGACATTGGACCTCTC -3'
(R):5'- TCCATGCCTCTCACAATGG -3'

Sequencing Primer
(F):5'- TAACAGAGATCCCTGCTGAGCTG -3'
(R):5'- AATGGCCCCGACGATGTATG -3'
Posted On 2014-09-18