Incidental Mutation 'R4431:Lrrc71'
ID 328597
Institutional Source Beutler Lab
Gene Symbol Lrrc71
Ensembl Gene ENSMUSG00000023084
Gene Name leucine rich repeat containing 71
Synonyms 4933430H15Rik
MMRRC Submission 041146-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4431 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 87644230-87655932 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87650143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 286 (S286P)
Ref Sequence ENSEMBL: ENSMUSP00000023846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023846] [ENSMUST00000039476] [ENSMUST00000152006]
AlphaFold Q9D3W5
Predicted Effect possibly damaging
Transcript: ENSMUST00000023846
AA Change: S286P

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000023846
Gene: ENSMUSG00000023084
AA Change: S286P

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
Blast:LRR 165 191 6e-7 BLAST
LRR 219 246 4.24e-1 SMART
LRR 251 278 1.33e-1 SMART
LRR 279 306 1.98e-4 SMART
low complexity region 312 323 N/A INTRINSIC
low complexity region 329 337 N/A INTRINSIC
low complexity region 376 390 N/A INTRINSIC
low complexity region 407 414 N/A INTRINSIC
LRR 472 499 1.83e2 SMART
low complexity region 547 557 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000039476
SMART Domains Protein: ENSMUSP00000039900
Gene: ENSMUSG00000041977

DomainStartEndE-ValueType
low complexity region 12 18 N/A INTRINSIC
PDZ 55 123 2.45e-18 SMART
low complexity region 149 160 N/A INTRINSIC
coiled coil region 205 231 N/A INTRINSIC
RGS 353 472 3.36e-11 SMART
low complexity region 554 565 N/A INTRINSIC
low complexity region 625 639 N/A INTRINSIC
low complexity region 681 694 N/A INTRINSIC
RhoGEF 768 952 1.11e-65 SMART
PH 996 1111 9.49e-6 SMART
low complexity region 1153 1166 N/A INTRINSIC
low complexity region 1176 1188 N/A INTRINSIC
low complexity region 1333 1343 N/A INTRINSIC
low complexity region 1357 1367 N/A INTRINSIC
low complexity region 1478 1490 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152006
SMART Domains Protein: ENSMUSP00000122166
Gene: ENSMUSG00000041977

DomainStartEndE-ValueType
low complexity region 12 18 N/A INTRINSIC
PDZ 55 123 2.45e-18 SMART
low complexity region 149 160 N/A INTRINSIC
coiled coil region 205 231 N/A INTRINSIC
RGS 353 472 3.36e-11 SMART
low complexity region 554 565 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172985
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174208
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174381
Predicted Effect probably benign
Transcript: ENSMUST00000174581
SMART Domains Protein: ENSMUSP00000134711
Gene: ENSMUSG00000023084

DomainStartEndE-ValueType
Blast:LRR 67 94 1e-10 BLAST
low complexity region 142 152 N/A INTRINSIC
Meta Mutation Damage Score 0.4369 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
2510039O18Rik T C 4: 148,026,022 (GRCm39) S181P probably benign Het
4930522L14Rik A T 5: 109,884,440 (GRCm39) C473S possibly damaging Het
4930523C07Rik A T 1: 159,872,149 (GRCm39) noncoding transcript Het
Aak1 A G 6: 86,963,300 (GRCm39) K910R unknown Het
Abca2 A G 2: 25,332,864 (GRCm39) D1521G probably benign Het
Adamts20 C A 15: 94,241,924 (GRCm39) D695Y probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Bltp3a A G 17: 28,104,905 (GRCm39) N533S probably damaging Het
Bspry T A 4: 62,400,904 (GRCm39) I132N possibly damaging Het
Cfap300 A G 9: 8,027,178 (GRCm39) V120A probably damaging Het
Cfh T C 1: 140,064,004 (GRCm39) Y424C probably damaging Het
Chd2 T C 7: 73,085,709 (GRCm39) R1642G possibly damaging Het
Chrm2 A G 6: 36,501,097 (GRCm39) D318G probably benign Het
Chrna4 A G 2: 180,670,413 (GRCm39) S448P probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Dock8 T C 19: 25,042,754 (GRCm39) V112A probably benign Het
Fbxo42 C A 4: 140,927,861 (GRCm39) R714S probably damaging Het
Fmo1 G A 1: 162,661,281 (GRCm39) A334V possibly damaging Het
Gpr68 A T 12: 100,865,650 (GRCm39) probably benign Het
Gramd4 A G 15: 86,014,361 (GRCm39) K345R probably damaging Het
Gtpbp1 T G 15: 79,600,398 (GRCm39) S444A probably damaging Het
Ints12 T C 3: 132,808,242 (GRCm39) Y207H probably damaging Het
Kat2b-ps A T 5: 93,540,443 (GRCm39) noncoding transcript Het
Klhl25 T A 7: 75,515,162 (GRCm39) F23I probably damaging Het
Lamc1 A G 1: 153,097,274 (GRCm39) I1590T probably damaging Het
Lhfpl4 A G 6: 113,170,805 (GRCm39) I127T possibly damaging Het
Man1c1 A T 4: 134,430,329 (GRCm39) V151D probably damaging Het
Mipol1 G A 12: 57,350,310 (GRCm39) R36Q possibly damaging Het
Nuggc T A 14: 65,848,659 (GRCm39) W187R probably benign Het
Or4a71 A G 2: 89,357,987 (GRCm39) Y256H probably damaging Het
Pkhd1 G A 1: 20,593,538 (GRCm39) T1525I probably damaging Het
Pomp A G 5: 147,812,289 (GRCm39) E125G probably damaging Het
Ptar1 G T 19: 23,671,695 (GRCm39) G33C probably damaging Het
Ptpn3 A G 4: 57,235,355 (GRCm39) S335P probably damaging Het
Pus7 A G 5: 23,951,487 (GRCm39) Y521H probably benign Het
Shank1 C T 7: 43,969,076 (GRCm39) R324* probably null Het
Slc12a3 A T 8: 95,069,713 (GRCm39) I541F probably damaging Het
Slc12a9 G A 5: 137,319,775 (GRCm39) P580L probably benign Het
Spz1 A G 13: 92,711,837 (GRCm39) L213P probably damaging Het
Strn A G 17: 79,043,891 (GRCm39) V9A probably damaging Het
Sytl5 A T X: 9,826,262 (GRCm39) N412Y probably damaging Het
Tert T A 13: 73,775,594 (GRCm39) F115Y probably damaging Het
Tmem67 T A 4: 12,051,473 (GRCm39) N785I possibly damaging Het
Trf T C 9: 103,089,075 (GRCm39) N243S possibly damaging Het
Ttc3 T C 16: 94,211,817 (GRCm39) probably null Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vps13b A C 15: 35,770,899 (GRCm39) Q2114P probably damaging Het
Wdfy1 T A 1: 79,691,583 (GRCm39) R275* probably null Het
Wnt2b A G 3: 104,860,256 (GRCm39) L217S probably damaging Het
Other mutations in Lrrc71
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02030:Lrrc71 APN 3 87,652,531 (GRCm39) splice site probably null
IGL02387:Lrrc71 APN 3 87,650,378 (GRCm39) missense probably damaging 0.96
IGL02632:Lrrc71 APN 3 87,650,647 (GRCm39) missense probably damaging 1.00
IGL02701:Lrrc71 APN 3 87,649,079 (GRCm39) missense probably benign 0.37
R0372:Lrrc71 UTSW 3 87,653,084 (GRCm39) missense probably benign 0.40
R0505:Lrrc71 UTSW 3 87,653,006 (GRCm39) missense probably damaging 0.98
R0827:Lrrc71 UTSW 3 87,649,952 (GRCm39) splice site probably null
R1511:Lrrc71 UTSW 3 87,652,791 (GRCm39) missense probably benign 0.00
R1541:Lrrc71 UTSW 3 87,649,148 (GRCm39) missense possibly damaging 0.87
R1987:Lrrc71 UTSW 3 87,649,950 (GRCm39) missense probably benign 0.25
R2054:Lrrc71 UTSW 3 87,649,980 (GRCm39) missense probably damaging 1.00
R2143:Lrrc71 UTSW 3 87,652,828 (GRCm39) nonsense probably null
R2427:Lrrc71 UTSW 3 87,653,309 (GRCm39) missense probably benign
R3700:Lrrc71 UTSW 3 87,653,185 (GRCm39) splice site probably null
R4073:Lrrc71 UTSW 3 87,652,569 (GRCm39) missense probably benign 0.01
R4231:Lrrc71 UTSW 3 87,648,298 (GRCm39) missense probably benign 0.01
R4477:Lrrc71 UTSW 3 87,649,972 (GRCm39) missense probably damaging 0.99
R4562:Lrrc71 UTSW 3 87,652,715 (GRCm39) unclassified probably benign
R4563:Lrrc71 UTSW 3 87,652,715 (GRCm39) unclassified probably benign
R4564:Lrrc71 UTSW 3 87,652,715 (GRCm39) unclassified probably benign
R4724:Lrrc71 UTSW 3 87,646,481 (GRCm39) missense probably damaging 0.97
R4826:Lrrc71 UTSW 3 87,650,615 (GRCm39) missense probably benign 0.33
R5156:Lrrc71 UTSW 3 87,653,094 (GRCm39) missense probably benign 0.07
R5631:Lrrc71 UTSW 3 87,646,456 (GRCm39) missense probably benign 0.00
R6182:Lrrc71 UTSW 3 87,653,101 (GRCm39) missense probably benign 0.41
R6558:Lrrc71 UTSW 3 87,649,950 (GRCm39) missense probably benign 0.25
R6885:Lrrc71 UTSW 3 87,649,927 (GRCm39) splice site probably null
R7036:Lrrc71 UTSW 3 87,655,693 (GRCm39) missense probably benign 0.00
R7199:Lrrc71 UTSW 3 87,650,384 (GRCm39) missense probably damaging 1.00
R7211:Lrrc71 UTSW 3 87,650,633 (GRCm39) missense possibly damaging 0.92
R7634:Lrrc71 UTSW 3 87,650,281 (GRCm39) missense probably damaging 1.00
R7638:Lrrc71 UTSW 3 87,649,113 (GRCm39) missense probably damaging 1.00
R7695:Lrrc71 UTSW 3 87,646,769 (GRCm39) missense probably damaging 1.00
R8971:Lrrc71 UTSW 3 87,647,153 (GRCm39) missense possibly damaging 0.78
R9041:Lrrc71 UTSW 3 87,650,660 (GRCm39) missense probably damaging 0.97
R9427:Lrrc71 UTSW 3 87,650,368 (GRCm39) missense probably benign
R9583:Lrrc71 UTSW 3 87,650,258 (GRCm39) missense possibly damaging 0.78
Z1177:Lrrc71 UTSW 3 87,650,128 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGAACACAGCTGTCCTCAC -3'
(R):5'- CGAACCCTGGTTTCACTGAAC -3'

Sequencing Primer
(F):5'- GTTCCTTTCACCAGCAGCAGG -3'
(R):5'- GGTTTCACTGAACCTAGCATTCAAC -3'
Posted On 2015-07-21