Incidental Mutation 'R4073:Lrrc71'
ID 316379
Institutional Source Beutler Lab
Gene Symbol Lrrc71
Ensembl Gene ENSMUSG00000023084
Gene Name leucine rich repeat containing 71
Synonyms 4933430H15Rik
MMRRC Submission 041621-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4073 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 87644230-87655932 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 87652569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 185 (T185I)
Ref Sequence ENSEMBL: ENSMUSP00000023846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023846] [ENSMUST00000029714] [ENSMUST00000079083] [ENSMUST00000090981] [ENSMUST00000172621] [ENSMUST00000174267] [ENSMUST00000174759] [ENSMUST00000174713]
AlphaFold Q9D3W5
Predicted Effect probably benign
Transcript: ENSMUST00000023846
AA Change: T185I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000023846
Gene: ENSMUSG00000023084
AA Change: T185I

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: ENSMUST00000029714
SMART Domains Protein: ENSMUSP00000029714
Gene: ENSMUSG00000028073

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 67 78 N/A INTRINSIC
EGF 102 130 3.82e-2 SMART
EGF_like 132 173 2.92e1 SMART
EGF_like 146 185 1.92e0 SMART
EGF_like 189 246 1.99e0 SMART
EGF 217 258 1.04e1 SMART
EGF_Lam 274 313 1.21e-4 SMART
EGF 312 344 4.03e-1 SMART
EGF_Lam 361 402 1.33e-1 SMART
EGF 401 433 1.18e-2 SMART
EGF_like 449 488 1.72e0 SMART
EGF 487 519 6.92e0 SMART
EGF_Lam 535 574 2.08e-3 SMART
EGF 573 605 5.49e-3 SMART
EGF_Lam 620 660 1.58e-3 SMART
EGF 659 691 3.1e-2 SMART
EGF 702 734 2.53e1 SMART
transmembrane domain 754 776 N/A INTRINSIC
low complexity region 809 822 N/A INTRINSIC
low complexity region 829 835 N/A INTRINSIC
low complexity region 954 971 N/A INTRINSIC
low complexity region 993 1002 N/A INTRINSIC
low complexity region 1019 1031 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000079083
SMART Domains Protein: ENSMUSP00000078090
Gene: ENSMUSG00000028073

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 67 78 N/A INTRINSIC
EGF 102 130 3.82e-2 SMART
EGF_like 132 173 2.92e1 SMART
EGF_like 146 185 1.92e0 SMART
EGF_like 189 246 1.99e0 SMART
EGF 217 258 1.04e1 SMART
EGF_Lam 274 313 1.21e-4 SMART
EGF 312 344 4.03e-1 SMART
EGF_Lam 361 402 1.33e-1 SMART
EGF 401 433 1.18e-2 SMART
EGF_like 449 488 1.72e0 SMART
EGF 487 519 6.92e0 SMART
EGF_Lam 535 574 2.08e-3 SMART
EGF 573 605 5.49e-3 SMART
EGF_Lam 620 660 1.58e-3 SMART
EGF 659 691 3.1e-2 SMART
EGF 702 734 2.53e1 SMART
transmembrane domain 754 776 N/A INTRINSIC
low complexity region 809 822 N/A INTRINSIC
low complexity region 829 835 N/A INTRINSIC
low complexity region 954 971 N/A INTRINSIC
low complexity region 993 1002 N/A INTRINSIC
low complexity region 1019 1031 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000090981
SMART Domains Protein: ENSMUSP00000088503
Gene: ENSMUSG00000028073

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 67 78 N/A INTRINSIC
EGF 102 130 3.82e-2 SMART
EGF_like 132 173 2.92e1 SMART
EGF_like 146 185 1.92e0 SMART
EGF_like 189 246 1.99e0 SMART
EGF 217 258 1.04e1 SMART
EGF_Lam 274 313 1.21e-4 SMART
EGF 312 344 4.03e-1 SMART
EGF_Lam 361 402 1.33e-1 SMART
EGF 401 433 1.18e-2 SMART
EGF_like 449 488 1.72e0 SMART
EGF 487 519 6.92e0 SMART
EGF_Lam 535 574 2.08e-3 SMART
EGF 573 605 5.49e-3 SMART
EGF_Lam 620 660 1.58e-3 SMART
EGF 659 691 3.1e-2 SMART
EGF 702 734 2.53e1 SMART
transmembrane domain 754 776 N/A INTRINSIC
low complexity region 809 822 N/A INTRINSIC
low complexity region 829 835 N/A INTRINSIC
low complexity region 954 971 N/A INTRINSIC
low complexity region 993 1002 N/A INTRINSIC
low complexity region 1019 1031 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172621
SMART Domains Protein: ENSMUSP00000133474
Gene: ENSMUSG00000028073

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 67 78 N/A INTRINSIC
EGF 102 130 3.82e-2 SMART
EGF_like 132 173 2.92e1 SMART
EGF_like 146 185 1.92e0 SMART
EGF_like 189 246 1.99e0 SMART
EGF 217 258 1.04e1 SMART
EGF_Lam 274 313 1.21e-4 SMART
EGF 312 344 4.03e-1 SMART
EGF_Lam 361 402 1.33e-1 SMART
EGF 401 433 1.18e-2 SMART
EGF_like 449 488 1.72e0 SMART
EGF 487 519 6.92e0 SMART
EGF_Lam 535 574 2.08e-3 SMART
EGF 573 605 5.49e-3 SMART
EGF_Lam 620 660 1.58e-3 SMART
EGF 659 691 3.1e-2 SMART
EGF 702 734 2.53e1 SMART
transmembrane domain 754 776 N/A INTRINSIC
low complexity region 809 822 N/A INTRINSIC
low complexity region 829 835 N/A INTRINSIC
low complexity region 954 971 N/A INTRINSIC
low complexity region 993 1002 N/A INTRINSIC
low complexity region 1019 1031 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172631
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173490
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174208
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174381
Predicted Effect probably benign
Transcript: ENSMUST00000174267
SMART Domains Protein: ENSMUSP00000133626
Gene: ENSMUSG00000028073

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
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
Predicted Effect probably benign
Transcript: ENSMUST00000174759
SMART Domains Protein: ENSMUSP00000133323
Gene: ENSMUSG00000028073

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 67 78 N/A INTRINSIC
EGF 102 130 3.82e-2 SMART
EGF_like 132 173 2.92e1 SMART
EGF_like 146 185 1.92e0 SMART
EGF_like 189 246 1.99e0 SMART
EGF 217 258 1.04e1 SMART
EGF_Lam 274 313 1.21e-4 SMART
EGF 312 344 4.03e-1 SMART
EGF_Lam 361 402 1.33e-1 SMART
EGF 401 433 1.18e-2 SMART
EGF_like 449 488 1.72e0 SMART
EGF 487 519 6.92e0 SMART
EGF_Lam 535 574 2.08e-3 SMART
EGF 573 605 5.49e-3 SMART
EGF_Lam 620 660 1.58e-3 SMART
EGF 659 691 3.1e-2 SMART
EGF 702 734 2.53e1 SMART
transmembrane domain 754 776 N/A INTRINSIC
low complexity region 809 822 N/A INTRINSIC
low complexity region 829 835 N/A INTRINSIC
low complexity region 954 971 N/A INTRINSIC
low complexity region 993 1002 N/A INTRINSIC
low complexity region 1019 1031 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174713
SMART Domains Protein: ENSMUSP00000134215
Gene: ENSMUSG00000028073

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Meta Mutation Damage Score 0.1174 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 96% (67/70)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415M13Rik C T 17: 54,031,494 (GRCm39) noncoding transcript Het
Alox12 T C 11: 70,138,136 (GRCm39) N400D probably damaging Het
Axl A G 7: 25,463,336 (GRCm39) probably benign Het
Cbs C T 17: 31,851,979 (GRCm39) C8Y possibly damaging Het
Ccdc103 C T 11: 102,774,925 (GRCm39) R175W probably damaging Het
Clasp1 T C 1: 118,431,578 (GRCm39) F171L probably damaging Het
Cnot10 A G 9: 114,452,015 (GRCm39) F254L possibly damaging Het
Cytl1 A G 5: 37,892,940 (GRCm39) I17V unknown Het
Dnah11 A G 12: 118,009,413 (GRCm39) M2083T probably benign Het
Dock7 A T 4: 98,896,296 (GRCm39) S768R probably benign Het
Egf C T 3: 129,529,618 (GRCm39) R264Q probably benign Het
Ehhadh T C 16: 21,585,257 (GRCm39) D208G probably benign Het
Eqtn A G 4: 94,808,199 (GRCm39) I201T possibly damaging Het
Erbin T C 13: 103,996,619 (GRCm39) E211G probably damaging Het
Ercc4 G A 16: 12,948,549 (GRCm39) V499I probably damaging Het
Gpd2 A G 2: 57,180,025 (GRCm39) R91G probably damaging Het
Herc1 A G 9: 66,325,774 (GRCm39) D1416G probably benign Het
Ighv1-30 C T 12: 114,781,021 (GRCm39) noncoding transcript Het
Il23r A G 6: 67,463,106 (GRCm39) I129T probably damaging Het
Jph4 T C 14: 55,352,497 (GRCm39) S79G probably benign Het
Lamp3 A G 16: 19,519,466 (GRCm39) L239P possibly damaging Het
Lrig3 C T 10: 125,849,277 (GRCm39) T999I probably benign Het
Mroh1 A G 15: 76,292,185 (GRCm39) D219G probably benign Het
Mtor T A 4: 148,633,832 (GRCm39) S2342T probably damaging Het
Nf2 T C 11: 4,798,958 (GRCm39) S10G probably benign Het
Nlrp4c A G 7: 6,075,709 (GRCm39) K667E probably benign Het
Nrm T A 17: 36,172,424 (GRCm39) probably benign Het
Nsd1 T A 13: 55,395,541 (GRCm39) H1047Q probably benign Het
Obox3 G T 7: 15,359,724 (GRCm39) T315N possibly damaging Het
Or2t47 T C 11: 58,442,888 (GRCm39) Y59C probably damaging Het
Or4k5 A G 14: 50,385,500 (GRCm39) V277A possibly damaging Het
Or4x13 T C 2: 90,231,337 (GRCm39) F111L probably benign Het
Or5b3 G A 19: 13,388,299 (GRCm39) R122H possibly damaging Het
Or6aa1 T A 7: 86,044,155 (GRCm39) I184F probably damaging Het
Or8b38 T C 9: 37,973,165 (GRCm39) L183P probably damaging Het
Pbx3 T C 2: 34,114,424 (GRCm39) Y112C probably damaging Het
Pde11a C T 2: 76,168,242 (GRCm39) R237H probably damaging Het
Phactr1 ACTT A 13: 43,213,245 (GRCm39) probably benign Het
Pidd1 A G 7: 141,020,739 (GRCm39) F453L probably damaging Het
Ptgs1 C T 2: 36,127,788 (GRCm39) R116C probably damaging Het
Rab39b T C X: 74,618,658 (GRCm39) probably benign Het
Rpp25 T C 9: 57,411,592 (GRCm39) S25P probably benign Het
Rrbp1 T G 2: 143,805,030 (GRCm39) Q1045P probably benign Het
Sbk3 G T 7: 4,973,501 (GRCm39) A41D probably damaging Het
Slc24a3 T A 2: 145,455,636 (GRCm39) probably benign Het
Slc28a3 T C 13: 58,707,104 (GRCm39) I565V probably benign Het
Slc35a3 T C 3: 116,468,887 (GRCm39) T275A probably benign Het
Spink12 A G 18: 44,237,731 (GRCm39) N3S possibly damaging Het
Srp72 C A 5: 77,146,098 (GRCm39) T633K probably benign Het
Tab3 G T X: 84,658,063 (GRCm39) V197F probably damaging Het
Taf2 A G 15: 54,915,633 (GRCm39) L431P probably damaging Het
Tas2r131 A T 6: 132,934,802 (GRCm39) Y2* probably null Het
Tmprss11e T C 5: 86,863,502 (GRCm39) T188A possibly damaging Het
Trpv1 T C 11: 73,141,606 (GRCm39) V175A probably damaging Het
Usp21 T C 1: 171,109,746 (GRCm39) probably benign Het
Vmn1r25 A G 6: 57,955,572 (GRCm39) V239A possibly damaging Het
Zbbx C T 3: 75,012,978 (GRCm39) G151E probably damaging Het
Zfhx4 G T 3: 5,464,384 (GRCm39) C1514F 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
R4231:Lrrc71 UTSW 3 87,648,298 (GRCm39) missense probably benign 0.01
R4431:Lrrc71 UTSW 3 87,650,143 (GRCm39) missense possibly damaging 0.59
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'- ACCGTGTGGACTAAAACATTGG -3'
(R):5'- GCCATCAAGTGAGAGGCATTG -3'

Sequencing Primer
(F):5'- GACTAAAACATTGGTTTCTCAGGTGG -3'
(R):5'- CATTGTGGGAGGTCAGCC -3'
Posted On 2015-05-15