Incidental Mutation 'R8518:Lrrc27'
ID656252
Institutional Source Beutler Lab
Gene Symbol Lrrc27
Ensembl Gene ENSMUSG00000015980
Gene Nameleucine rich repeat containing 27
Synonyms1700071K18Rik, 2310044E02Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.050) question?
Stock #R8518 (G1)
Quality Score225.009
Status Not validated
Chromosome7
Chromosomal Location139212988-139242979 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 139228774 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 391 (V391A)
Ref Sequence ENSEMBL: ENSMUSP00000101710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016124] [ENSMUST00000106104]
Predicted Effect probably benign
Transcript: ENSMUST00000016124
SMART Domains Protein: ENSMUSP00000016124
Gene: ENSMUSG00000015980

DomainStartEndE-ValueType
low complexity region 8 32 N/A INTRINSIC
LRR_TYP 75 98 1.03e-2 SMART
LRR_TYP 99 122 3.69e-4 SMART
LRR 123 145 7.38e1 SMART
low complexity region 271 283 N/A INTRINSIC
coiled coil region 336 370 N/A INTRINSIC
coiled coil region 463 491 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106104
AA Change: V391A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000101710
Gene: ENSMUSG00000015980
AA Change: V391A

DomainStartEndE-ValueType
low complexity region 8 32 N/A INTRINSIC
LRR_TYP 75 98 1.03e-2 SMART
LRR_TYP 99 122 3.69e-4 SMART
LRR 123 145 7.38e1 SMART
low complexity region 271 283 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T C 11: 78,265,238 L192P possibly damaging Het
Abcc5 A G 16: 20,404,648 V170A possibly damaging Het
Adamts2 A G 11: 50,776,130 E418G probably damaging Het
Adra2b T C 2: 127,364,136 L191P probably damaging Het
Ampd2 C A 3: 108,080,116 V134L probably benign Het
Bag2 T C 1: 33,748,277 I55V probably benign Het
Bmpr1b T C 3: 141,857,582 I200M possibly damaging Het
Cacna1i C A 15: 80,358,894 Y417* probably null Het
Cdc7 T A 5: 106,972,998 I162N probably damaging Het
Chchd1 T C 14: 20,704,143 I89T probably benign Het
Cxcl16 T C 11: 70,455,684 N224S probably benign Het
Dync1i1 T G 6: 5,913,330 L188V probably damaging Het
Dync2h1 A G 9: 7,051,452 V3161A probably benign Het
E2f3 T A 13: 29,913,470 K303N probably damaging Het
Fermt1 T C 2: 132,906,715 T663A probably benign Het
Fhod3 A G 18: 25,056,333 R611G probably damaging Het
Frem3 A T 8: 80,612,595 S506C probably damaging Het
Gm10318 T A 10: 77,852,878 M6K unknown Het
Gm11237 T A 4: 73,624,404 L47Q probably damaging Het
Gm6563 T A 19: 23,676,116 V90E probably damaging Het
Gpc6 T C 14: 116,925,972 S13P probably benign Het
Gpr107 C A 2: 31,176,927 H196Q probably benign Het
Heatr1 T G 13: 12,410,534 D618E probably benign Het
Mindy3 T G 2: 12,355,343 K349N probably damaging Het
Mllt10 T C 2: 18,146,859 V261A probably damaging Het
Mrpl48 G A 7: 100,583,062 probably benign Het
Muc16 T C 9: 18,519,631 I8062V probably benign Het
Myo7a T C 7: 98,091,063 N575D possibly damaging Het
Nfrkb T C 9: 31,399,965 L370P probably damaging Het
Numbl T C 7: 27,264,936 V57A probably benign Het
Olfr1448 G A 19: 12,919,595 T238I probably damaging Het
Olfr220 T A 1: 174,449,176 C184* probably null Het
Olfr574 T C 7: 102,948,597 V44A probably damaging Het
Pdia2 A T 17: 26,198,170 L100* probably null Het
Prpf31 A T 7: 3,632,743 N105I probably damaging Het
Rbm20 A G 19: 53,851,492 N971D probably benign Het
Rnf213 T A 11: 119,462,217 M3980K Het
Skint6 A G 4: 113,238,268 F65L possibly damaging Het
Smpd4 T A 16: 17,641,020 C536S possibly damaging Het
Tcof1 G C 18: 60,829,051 A702G possibly damaging Het
Tfpt A G 7: 3,629,066 F15S possibly damaging Het
Tnp2 A G 16: 10,788,508 C32R possibly damaging Het
Tns3 A T 11: 8,492,971 V464E probably damaging Het
Tpp2 T A 1: 43,980,385 L824H probably damaging Het
Trav15-1-dv6-1 A G 14: 53,560,209 D105G probably benign Het
Ttc3 T C 16: 94,457,379 S1679P probably benign Het
Xpo7 A G 14: 70,707,397 Y19H probably damaging Het
Zswim4 G A 8: 84,211,957 R1099W probably damaging Het
Other mutations in Lrrc27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01668:Lrrc27 APN 7 139227911 intron probably benign
IGL02095:Lrrc27 APN 7 139230253 missense probably benign 0.04
IGL02489:Lrrc27 APN 7 139226061 missense probably benign 0.01
IGL03080:Lrrc27 APN 7 139230237 missense probably benign 0.03
R0372:Lrrc27 UTSW 7 139226187 missense probably benign 0.17
R1466:Lrrc27 UTSW 7 139230308 unclassified probably benign
R2401:Lrrc27 UTSW 7 139223613 missense probably damaging 1.00
R2876:Lrrc27 UTSW 7 139228684 intron probably benign
R3113:Lrrc27 UTSW 7 139218307 missense probably damaging 1.00
R4214:Lrrc27 UTSW 7 139223693 missense probably damaging 1.00
R4707:Lrrc27 UTSW 7 139242698 missense probably benign 0.02
R4784:Lrrc27 UTSW 7 139242698 missense probably benign 0.02
R5070:Lrrc27 UTSW 7 139214799 missense probably damaging 0.99
R5855:Lrrc27 UTSW 7 139218335 unclassified probably benign
R6408:Lrrc27 UTSW 7 139218268 missense probably benign 0.14
R6993:Lrrc27 UTSW 7 139242624 missense probably damaging 0.99
R7332:Lrrc27 UTSW 7 139242745 missense probably damaging 1.00
R7350:Lrrc27 UTSW 7 139226106 missense probably benign 0.01
R7460:Lrrc27 UTSW 7 139223658 missense probably damaging 1.00
R7502:Lrrc27 UTSW 7 139214832 missense probably benign
R8020:Lrrc27 UTSW 7 139236877 missense probably damaging 1.00
R8071:Lrrc27 UTSW 7 139236986 missense probably benign 0.01
RF018:Lrrc27 UTSW 7 139226100 missense probably benign 0.03
X0065:Lrrc27 UTSW 7 139230245 missense probably benign 0.00
X0065:Lrrc27 UTSW 7 139230246 missense probably benign 0.00
Z1176:Lrrc27 UTSW 7 139242720 missense probably damaging 1.00
Predicted Primers
Posted On2020-10-20