Incidental Mutation 'R3700:Lrrc71'
ID 269942
Institutional Source Beutler Lab
Gene Symbol Lrrc71
Ensembl Gene ENSMUSG00000023084
Gene Name leucine rich repeat containing 71
Synonyms 4933430H15Rik
MMRRC Submission 040693-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3700 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 87644230-87655932 bp(-) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) T to A at 87653185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000023846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023846] [ENSMUST00000023846] [ENSMUST00000029714] [ENSMUST00000079083] [ENSMUST00000090981] [ENSMUST00000172621] [ENSMUST00000174267] [ENSMUST00000174713] [ENSMUST00000174759]
AlphaFold Q9D3W5
Predicted Effect probably null
Transcript: ENSMUST00000023846
SMART Domains Protein: ENSMUSP00000023846
Gene: ENSMUSG00000023084

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 null
Transcript: ENSMUST00000023846
SMART Domains Protein: ENSMUSP00000023846
Gene: ENSMUSG00000023084

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: ENSMUST00000174713
SMART Domains Protein: ENSMUSP00000134215
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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 98% (51/52)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 G A 18: 65,438,222 (GRCm39) T1524I probably damaging Het
Ankrd29 G A 18: 12,387,757 (GRCm39) A275V possibly damaging Het
Arhgap26 T A 18: 39,253,237 (GRCm39) F221L probably damaging Het
Arhgap28 T C 17: 68,208,361 (GRCm39) S36G probably damaging Het
Bcl11a A G 11: 24,113,890 (GRCm39) D411G probably damaging Het
Cdh23 C A 10: 60,163,149 (GRCm39) probably null Het
Cnnm2 T A 19: 46,750,990 (GRCm39) I260N probably damaging Het
Coro6 T C 11: 77,358,129 (GRCm39) F238S probably damaging Het
Ddah1 G A 3: 145,597,250 (GRCm39) M162I probably benign Het
Dnah5 T C 15: 28,387,937 (GRCm39) I3132T possibly damaging Het
Drgx A T 14: 32,350,818 (GRCm39) E218V probably damaging Het
Dync2i1 C T 12: 116,175,462 (GRCm39) W905* probably null Het
Eif3f A T 7: 108,539,482 (GRCm39) I251F probably benign Het
Ephx4 T C 5: 107,550,673 (GRCm39) F11L probably benign Het
Esp1 T C 17: 41,041,998 (GRCm39) S97P unknown Het
Fbxw10 A T 11: 62,759,983 (GRCm39) probably null Het
Hsp90ab1 T C 17: 45,882,440 (GRCm39) T85A possibly damaging Het
Idh2 T C 7: 79,748,895 (GRCm39) K129E probably damaging Het
Kcnj6 A G 16: 94,633,865 (GRCm39) I64T probably damaging Het
Klk1b5 T A 7: 43,500,251 (GRCm39) C280S probably damaging Het
Lhx2 T A 2: 38,250,111 (GRCm39) L269H probably damaging Het
Lss T A 10: 76,382,026 (GRCm39) L484Q probably damaging Het
Mmp14 G A 14: 54,669,389 (GRCm39) probably benign Het
Muc5b A G 7: 141,400,986 (GRCm39) T534A unknown Het
Mysm1 T C 4: 94,858,889 (GRCm39) K87E probably benign Het
Or6d13 T A 6: 116,517,489 (GRCm39) V25E probably benign Het
Or6f2 C G 7: 139,756,127 (GRCm39) F37L possibly damaging Het
Pcolce T C 5: 137,607,309 (GRCm39) T61A probably damaging Het
Phc3 C A 3: 30,968,277 (GRCm39) D920Y probably damaging Het
Pi4kb T C 3: 94,901,599 (GRCm39) I422T probably benign Het
Piezo1 C T 8: 123,221,642 (GRCm39) R584H probably damaging Het
Plce1 T A 19: 38,693,781 (GRCm39) F768Y probably damaging Het
Ppp1r21 T C 17: 88,889,882 (GRCm39) S709P possibly damaging Het
Prdx6 T C 1: 161,074,858 (GRCm39) D74G probably damaging Het
Rlf A G 4: 121,008,060 (GRCm39) F307L possibly damaging Het
Skic2 T C 17: 35,068,879 (GRCm39) E40G probably benign Het
Snapin G A 3: 90,397,499 (GRCm39) R91* probably null Het
Sort1 T A 3: 108,263,955 (GRCm39) L838* probably null Het
Sstr4 A G 2: 148,238,273 (GRCm39) I295V possibly damaging Het
Stk39 T A 2: 68,222,462 (GRCm39) I201F probably damaging Het
Tasp1 T C 2: 139,752,474 (GRCm39) T322A probably benign Het
Tepsin C T 11: 119,982,579 (GRCm39) C491Y possibly damaging Het
Tlr9 G A 9: 106,101,278 (GRCm39) V190M probably damaging Het
Ttf2 A G 3: 100,858,324 (GRCm39) L755P probably damaging Het
Txn2 G A 15: 77,811,976 (GRCm39) T60M possibly damaging Het
Vmn1r10 A G 6: 57,091,287 (GRCm39) N293S probably benign Het
Vmn1r232 A G 17: 21,134,465 (GRCm39) L45P probably benign Het
Vmn2r111 C T 17: 22,790,142 (GRCm39) W288* probably null Het
Vmn2r118 T C 17: 55,915,421 (GRCm39) S510G possibly damaging Het
Zgpat T A 2: 181,007,439 (GRCm39) probably benign Het
Zzef1 G T 11: 72,777,598 (GRCm39) G1810C probably null 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
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
Predicted Primers PCR Primer
(F):5'- GCTCCAGCTCCACTTGAATAGTG -3'
(R):5'- AAAGCAGCTTCCACTTGGG -3'

Sequencing Primer
(F):5'- GAAACATGAGAGCACCTG -3'
(R):5'- CTTCCACTTGGGGCTGCTG -3'
Posted On 2015-03-18