Incidental Mutation 'IGL02030:Lrrc71'
ID 184335
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc71
Ensembl Gene ENSMUSG00000023084
Gene Name leucine rich repeat containing 71
Synonyms 4933430H15Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02030
Quality Score
Status
Chromosome 3
Chromosomal Location 87644230-87655932 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 87652531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000023846] [ENSMUST00000029714] [ENSMUST00000079083] [ENSMUST00000090981] [ENSMUST00000172621] [ENSMUST00000174713] [ENSMUST00000174759] [ENSMUST00000174267]
AlphaFold Q9D3W5
Predicted Effect probably damaging
Transcript: ENSMUST00000023846
AA Change: R198W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023846
Gene: ENSMUSG00000023084
AA Change: R198W

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: ENSMUST00000174381
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174208
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173490
Predicted Effect probably null
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: ENSMUST00000174713
SMART Domains Protein: ENSMUSP00000134215
Gene: ENSMUSG00000028073

DomainStartEndE-ValueType
signal peptide 1 18 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: ENSMUST00000174267
SMART Domains Protein: ENSMUSP00000133626
Gene: ENSMUSG00000028073

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a T C 8: 44,021,894 (GRCm39) D532G probably benign Het
Adam29 C T 8: 56,325,157 (GRCm39) M432I probably benign Het
Cbs A G 17: 31,844,463 (GRCm39) probably null Het
Ccer1 A G 10: 97,529,472 (GRCm39) Y45C unknown Het
Clu G A 14: 66,213,240 (GRCm39) G209S probably benign Het
Ddx17 T C 15: 79,414,577 (GRCm39) D530G probably benign Het
Ddx4 T C 13: 112,761,311 (GRCm39) probably benign Het
Fry C T 5: 150,395,083 (GRCm39) probably benign Het
Fut10 C T 8: 31,726,006 (GRCm39) Q254* probably null Het
Gucy2e A G 11: 69,114,642 (GRCm39) F1002S probably damaging Het
Hsd3b6 T C 3: 98,713,489 (GRCm39) Y270C probably benign Het
Jup A G 11: 100,267,817 (GRCm39) I502T probably damaging Het
Mei1 T C 15: 81,999,944 (GRCm39) V1127A probably benign Het
Ncstn A T 1: 171,900,024 (GRCm39) probably benign Het
Nin T C 12: 70,092,042 (GRCm39) R756G probably damaging Het
Notch2 C A 3: 98,006,737 (GRCm39) probably null Het
Oacyl T C 18: 65,870,981 (GRCm39) V394A probably damaging Het
Or1j19 A G 2: 36,677,410 (GRCm39) Y291C probably damaging Het
Or5b21 T C 19: 12,839,799 (GRCm39) F220S probably benign Het
Or6b13 A G 7: 139,782,545 (GRCm39) I46T probably damaging Het
Parn A G 16: 13,482,514 (GRCm39) probably null Het
Rspo3 T G 10: 29,376,044 (GRCm39) E173A probably damaging Het
Rusc2 T A 4: 43,416,095 (GRCm39) V467E possibly damaging Het
Sema7a G A 9: 57,862,423 (GRCm39) E209K possibly damaging Het
Uchl4 T C 9: 64,142,911 (GRCm39) S131P probably benign Het
Usp54 T C 14: 20,616,014 (GRCm39) I769V probably benign Het
Xirp2 T C 2: 67,339,325 (GRCm39) M522T probably benign Het
Other mutations in Lrrc71
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2014-05-07