Incidental Mutation 'R1905:Lrrc72'
ID 214314
Institutional Source Beutler Lab
Gene Symbol Lrrc72
Ensembl Gene ENSMUSG00000020545
Gene Name leucine rich repeat containing 72
Synonyms 4933421E18Rik, 1700108M19Rik
MMRRC Submission 039924-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R1905 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 36258344-36303397 bp(-) (GRCm39)
Type of Mutation splice site (901 bp from exon)
DNA Base Change (assembly) T to A at 36258661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020853] [ENSMUST00000122115] [ENSMUST00000221155]
AlphaFold A0A1Y7VMI0
Predicted Effect probably damaging
Transcript: ENSMUST00000020853
AA Change: R65S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably null
Transcript: ENSMUST00000122115
SMART Domains Protein: ENSMUSP00000113517
Gene: ENSMUSG00000020545

DomainStartEndE-ValueType
Pfam:LRR_9 1 69 6.6e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152817
Predicted Effect probably damaging
Transcript: ENSMUST00000221155
AA Change: R247S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221665
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222145
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.5%
  • 20x: 93.1%
Validation Efficiency 99% (90/91)
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik G T 13: 119,606,216 (GRCm39) V153L possibly damaging Het
Adamts17 T A 7: 66,697,220 (GRCm39) C631* probably null Het
Adamts19 A G 18: 59,166,017 (GRCm39) R1070G possibly damaging Het
Aldh1a1 A G 19: 20,595,362 (GRCm39) E97G probably damaging Het
Bola2 T A 7: 126,295,410 (GRCm39) V40E probably damaging Het
Ccar1 A G 10: 62,612,437 (GRCm39) S243P possibly damaging Het
Cd80 A T 16: 38,294,539 (GRCm39) I141F probably damaging Het
Ceacam23 T A 7: 17,607,477 (GRCm39) noncoding transcript Het
Chn2 T C 6: 54,263,106 (GRCm39) C92R probably damaging Het
Ciao2a A G 9: 66,039,929 (GRCm39) K82R probably benign Het
Clk1 A T 1: 58,461,101 (GRCm39) probably benign Het
Clock T C 5: 76,414,735 (GRCm39) probably benign Het
Cntnap3 A G 13: 65,051,578 (GRCm39) V26A probably benign Het
Csf3r A T 4: 125,936,538 (GRCm39) K651N probably benign Het
Cul4a T C 8: 13,183,171 (GRCm39) M322T probably benign Het
Cx3cl1 A G 8: 95,506,687 (GRCm39) T231A probably benign Het
Cyp2c68 A T 19: 39,724,026 (GRCm39) C213S probably benign Het
Dhx16 T G 17: 36,199,247 (GRCm39) S814A probably benign Het
Dnah1 T C 14: 30,986,587 (GRCm39) I3659V probably benign Het
Dock6 A T 9: 21,740,870 (GRCm39) V906D probably benign Het
Ep400 G A 5: 110,818,814 (GRCm39) T2738I probably damaging Het
Erbb4 A T 1: 68,114,569 (GRCm39) probably benign Het
Fam135b C T 15: 71,404,836 (GRCm39) R70H probably damaging Het
Fam13a T C 6: 58,930,475 (GRCm39) Q479R probably damaging Het
Fcgr4 A T 1: 170,856,874 (GRCm39) Q247L probably damaging Het
Flnc T A 6: 29,459,459 (GRCm39) C2520S probably damaging Het
Foxn1 A G 11: 78,262,636 (GRCm39) probably null Het
Fsip2 C T 2: 82,813,772 (GRCm39) P3364S possibly damaging Het
Fzd8 C T 18: 9,213,803 (GRCm39) T295I probably damaging Het
Gm4744 G A 6: 40,928,736 (GRCm39) probably benign Het
Gm4871 G T 5: 144,966,859 (GRCm39) A208D probably damaging Het
Gm527 A G 12: 64,967,797 (GRCm39) N73S possibly damaging Het
Gm5414 T C 15: 101,533,075 (GRCm39) I451V probably damaging Het
Golm1 A T 13: 59,790,065 (GRCm39) V245E probably benign Het
Grik1 A T 16: 87,693,754 (GRCm39) Y879* probably null Het
Grn C A 11: 102,327,276 (GRCm39) P241Q probably damaging Het
H2-T7 T C 17: 36,453,833 (GRCm39) noncoding transcript Het
Hjurp T C 1: 88,194,338 (GRCm39) E190G probably benign Het
Hmcn1 A C 1: 150,868,606 (GRCm39) I66S probably damaging Het
Hykk T A 9: 54,853,667 (GRCm39) Y330N probably benign Het
Khdc1c A G 1: 21,439,281 (GRCm39) N89S probably benign Het
Lcor A G 19: 41,572,013 (GRCm39) D256G possibly damaging Het
Lyst T G 13: 13,808,719 (GRCm39) S130A probably benign Het
Mast1 G A 8: 85,642,895 (GRCm39) R967C probably damaging Het
Mfng T C 15: 78,657,286 (GRCm39) T63A probably damaging Het
Mre11a G A 9: 14,710,923 (GRCm39) D206N probably benign Het
Myh10 A G 11: 68,662,694 (GRCm39) probably benign Het
Myt1 A G 2: 181,439,549 (GRCm39) D357G probably damaging Het
Nacad T A 11: 6,552,540 (GRCm39) H217L probably benign Het
Ncoa1 A G 12: 4,345,433 (GRCm39) V638A probably damaging Het
Nlrp3 T G 11: 59,439,862 (GRCm39) F480V probably damaging Het
Nos1ap A G 1: 170,146,127 (GRCm39) W476R possibly damaging Het
Nr1h4 T A 10: 89,316,421 (GRCm39) T220S possibly damaging Het
Ntf5 G T 7: 45,065,176 (GRCm39) V103L probably damaging Het
Ntm C A 9: 29,090,393 (GRCm39) D109Y probably damaging Het
Or7e178 C T 9: 20,226,142 (GRCm39) E17K probably benign Het
P2rx7 G A 5: 122,819,015 (GRCm39) C479Y probably damaging Het
Pappa2 T A 1: 158,631,073 (GRCm39) probably null Het
Pgap1 A C 1: 54,551,120 (GRCm39) I520R probably benign Het
Pikfyve G A 1: 65,231,454 (GRCm39) probably null Het
Plekhg3 T C 12: 76,622,991 (GRCm39) S744P probably benign Het
Pramel6 A G 2: 87,339,526 (GRCm39) R97G probably damaging Het
Pramel6 G T 2: 87,339,527 (GRCm39) R97M probably damaging Het
Psme4 T C 11: 30,760,922 (GRCm39) V397A probably damaging Het
Ptk2b T C 14: 66,396,119 (GRCm39) D783G probably damaging Het
Ptma-ps1 T A 7: 23,763,306 (GRCm39) L17* probably null Het
Ralgapa2 C A 2: 146,229,621 (GRCm39) R1053L probably damaging Het
Sap130 C T 18: 31,813,620 (GRCm39) P559L possibly damaging Het
Sap30 T C 8: 57,940,345 (GRCm39) S86G probably damaging Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Sema3f G T 9: 107,561,575 (GRCm39) Q500K probably damaging Het
Serpinb3d T C 1: 107,007,014 (GRCm39) I231M possibly damaging Het
Sf3a1 T A 11: 4,126,678 (GRCm39) N563K probably benign Het
Sipa1l3 A G 7: 29,038,592 (GRCm39) S352P possibly damaging Het
Slc6a12 G T 6: 121,324,402 (GRCm39) E9* probably null Het
Srebf1 T C 11: 60,095,319 (GRCm39) D400G probably damaging Het
Swsap1 T C 9: 21,867,988 (GRCm39) Y87H probably damaging Het
Tanc2 G A 11: 105,813,689 (GRCm39) G1711D possibly damaging Het
Tas2r107 T C 6: 131,636,951 (GRCm39) M33V probably benign Het
Tdrd9 T A 12: 112,030,061 (GRCm39) probably benign Het
Tdrp T C 8: 14,004,079 (GRCm39) D86G probably damaging Het
Tmem92 A T 11: 94,669,501 (GRCm39) M106K probably benign Het
Tmf1 A T 6: 97,138,440 (GRCm39) C764S possibly damaging Het
Ttc21a G T 9: 119,795,823 (GRCm39) R1219L possibly damaging Het
Ttn C T 2: 76,593,792 (GRCm39) G18870D probably damaging Het
Tubgcp6 T C 15: 88,984,811 (GRCm39) Y1732C probably damaging Het
Vmn1r28 A G 6: 58,242,912 (GRCm39) T252A probably benign Het
Xirp2 A G 2: 67,346,700 (GRCm39) I2980M probably damaging Het
Zc2hc1c A G 12: 85,337,288 (GRCm39) D315G probably benign Het
Other mutations in Lrrc72
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00861:Lrrc72 APN 12 36,271,507 (GRCm39) missense probably benign 0.01
IGL01573:Lrrc72 APN 12 36,262,561 (GRCm39) splice site probably null
R3754:Lrrc72 UTSW 12 36,262,567 (GRCm39) missense probably benign 0.04
R4429:Lrrc72 UTSW 12 36,258,623 (GRCm39) missense probably damaging 1.00
R6263:Lrrc72 UTSW 12 36,258,603 (GRCm39) nonsense probably null
R6895:Lrrc72 UTSW 12 36,259,717 (GRCm39) missense probably damaging 0.99
R7263:Lrrc72 UTSW 12 36,258,611 (GRCm39) missense probably damaging 1.00
R7410:Lrrc72 UTSW 12 36,272,803 (GRCm39) missense probably damaging 1.00
R7452:Lrrc72 UTSW 12 36,262,692 (GRCm39) missense probably benign 0.11
R8217:Lrrc72 UTSW 12 36,258,676 (GRCm39) missense probably damaging 1.00
R8728:Lrrc72 UTSW 12 36,258,656 (GRCm39) missense probably benign 0.03
R8973:Lrrc72 UTSW 12 36,303,293 (GRCm39) missense probably benign
R9747:Lrrc72 UTSW 12 36,264,371 (GRCm39) missense probably damaging 1.00
V8831:Lrrc72 UTSW 12 36,258,656 (GRCm39) missense possibly damaging 0.65
Z1177:Lrrc72 UTSW 12 36,297,692 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- GTGTTCTAACGAGTGAGCGAAC -3'
(R):5'- GCTTTAGGTGTGCTCCAGAG -3'

Sequencing Primer
(F):5'- AACAGCACCGGGAGTTTC -3'
(R):5'- GAAGTATATGGTCCTGGTCACCAC -3'
Posted On 2014-07-14