Incidental Mutation 'R1541:Lrrc71'
ID 171712
Institutional Source Beutler Lab
Gene Symbol Lrrc71
Ensembl Gene ENSMUSG00000023084
Gene Name leucine rich repeat containing 71
Synonyms 4933430H15Rik
MMRRC Submission 039580-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1541 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 87644230-87655932 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87649148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 340 (D340G)
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: D340G

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000023846
Gene: ENSMUSG00000023084
AA Change: D340G

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 A G 14: 103,286,769 (GRCm39) D24G probably damaging Het
Angptl2 G A 2: 33,136,177 (GRCm39) R454H probably benign Het
Atat1 T A 17: 36,215,223 (GRCm39) N181I probably damaging Het
Atp6v0d2 A C 4: 19,910,645 (GRCm39) F82V probably damaging Het
Calhm4 T C 10: 33,917,659 (GRCm39) H264R probably benign Het
Casp3 A G 8: 47,087,369 (GRCm39) I105M probably benign Het
Ccdc33 T A 9: 58,024,749 (GRCm39) D159V probably damaging Het
Cd163 A C 6: 124,304,920 (GRCm39) D1099A probably benign Het
Cep128 A T 12: 91,315,555 (GRCm39) S110R probably damaging Het
Cfap43 A T 19: 47,752,291 (GRCm39) probably null Het
Cfap58 T C 19: 47,971,969 (GRCm39) I633T probably damaging Het
Clvs1 A G 4: 9,281,814 (GRCm39) H86R probably benign Het
Comt T C 16: 18,230,565 (GRCm39) K48R probably benign Het
Crip2 T C 12: 113,108,586 (GRCm39) V64A possibly damaging Het
Cstdc5 T A 16: 36,187,863 (GRCm39) M1L probably damaging Het
Cwf19l2 T A 9: 3,456,760 (GRCm39) S698T probably damaging Het
Dis3l T C 9: 64,214,771 (GRCm39) I933V probably benign Het
Dnah8 C A 17: 30,966,221 (GRCm39) N2470K probably damaging Het
Dstn T C 2: 143,780,408 (GRCm39) V36A possibly damaging Het
Dtx1 T A 5: 120,848,411 (GRCm39) probably benign Het
Dzip1 G A 14: 119,116,890 (GRCm39) S782L probably damaging Het
Ece1 T A 4: 137,675,971 (GRCm39) probably null Het
Erich1 A G 8: 14,080,688 (GRCm39) I277T probably damaging Het
Gbp4 T A 5: 105,266,275 (GRCm39) M589L probably benign Het
Grip1 T C 10: 119,836,448 (GRCm39) I440T probably damaging Het
Helz C T 11: 107,560,874 (GRCm39) S1311L probably benign Het
Herc2 A T 7: 55,785,405 (GRCm39) I1552F probably damaging Het
Kif13a T C 13: 46,962,689 (GRCm39) T459A probably benign Het
Knop1 G A 7: 118,455,009 (GRCm39) probably benign Het
Llgl2 C A 11: 115,743,947 (GRCm39) T758K probably benign Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Luzp1 A G 4: 136,270,636 (GRCm39) D953G probably damaging Het
Mst1r T C 9: 107,794,562 (GRCm39) V1247A probably damaging Het
Ncoa4 A T 14: 31,898,845 (GRCm39) K555M probably damaging Het
Ncoa6 A T 2: 155,257,224 (GRCm39) L773Q probably benign Het
Ndc1 C T 4: 107,228,485 (GRCm39) Q70* probably null Het
Nfe2l3 C T 6: 51,434,585 (GRCm39) L382F probably damaging Het
Nlrp4b C A 7: 10,458,979 (GRCm39) T399N possibly damaging Het
Nsmce2 T A 15: 59,473,234 (GRCm39) D250E probably damaging Het
Nudt14 A T 12: 112,898,548 (GRCm39) L184Q probably damaging Het
Ogdhl G A 14: 32,062,624 (GRCm39) R570H possibly damaging Het
Or5p56 T C 7: 107,590,048 (GRCm39) F159L probably benign Het
Pira13 T C 7: 3,819,988 (GRCm39) D525G probably damaging Het
Plag1 A G 4: 3,904,085 (GRCm39) S369P probably benign Het
Ranbp2 A T 10: 58,318,916 (GRCm39) T2476S possibly damaging Het
Rnmt T C 18: 68,440,853 (GRCm39) L172P probably damaging Het
Sec24a T A 11: 51,634,623 (GRCm39) H101L probably benign Het
Sirpd T A 3: 15,385,744 (GRCm39) T53S possibly damaging Het
Srm A G 4: 148,677,881 (GRCm39) D173G probably damaging Het
Srp54b A G 12: 55,302,844 (GRCm39) D380G probably benign Het
Svs5 C T 2: 164,078,929 (GRCm39) R326Q possibly damaging Het
Tent4b T C 8: 88,972,227 (GRCm39) V222A probably damaging Het
Tfap2b C T 1: 19,304,294 (GRCm39) T350M probably damaging Het
Tie1 A T 4: 118,341,070 (GRCm39) C304S probably damaging Het
Tsc2 G T 17: 24,850,950 (GRCm39) T36N probably damaging Het
Wdhd1 A T 14: 47,505,649 (GRCm39) Y274* probably null Het
Wdr37 T C 13: 8,870,574 (GRCm39) T373A probably benign Het
Xirp2 A T 2: 67,342,634 (GRCm39) N1625I possibly damaging Het
Ythdf1 A C 2: 180,560,936 (GRCm39) S35A probably damaging Het
Zfp462 A G 4: 55,008,928 (GRCm39) N298S possibly damaging Het
Zfp541 T A 7: 15,812,437 (GRCm39) D363E probably benign Het
Zgpat A G 2: 181,020,658 (GRCm39) D277G probably benign Het
Znfx1 A T 2: 166,898,110 (GRCm39) N271K 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
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
Predicted Primers PCR Primer
(F):5'- ACACCTTCAAAGGCCATTCATTTGC -3'
(R):5'- GGGCATGATACGAACCTTGTCAGC -3'

Sequencing Primer
(F):5'- AAAGGCCATTCATTTGCCCTTC -3'
(R):5'- aaaccaagggctggagatac -3'
Posted On 2014-04-13