Incidental Mutation 'R5010:Lrrfip2'
ID 390445
Institutional Source Beutler Lab
Gene Symbol Lrrfip2
Ensembl Gene ENSMUSG00000032497
Gene Name leucine rich repeat (in FLII) interacting protein 2
Synonyms 5133400F20Rik
MMRRC Submission 042601-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R5010 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 110946660-111054736 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111053040 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 375 (I375T)
Ref Sequence ENSEMBL: ENSMUSP00000149212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035078] [ENSMUST00000035079] [ENSMUST00000098340] [ENSMUST00000135218] [ENSMUST00000196981] [ENSMUST00000197241] [ENSMUST00000197256] [ENSMUST00000217117] [ENSMUST00000216430] [ENSMUST00000217341]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000035078
AA Change: I387T

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000035078
Gene: ENSMUSG00000032497
AA Change: I387T

DomainStartEndE-ValueType
Pfam:DUF2051 31 340 2.5e-106 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000035079
SMART Domains Protein: ENSMUSP00000035079
Gene: ENSMUSG00000032498

DomainStartEndE-ValueType
HATPase_c 23 158 4.57e-1 SMART
DNA_mis_repair 216 335 1.08e-44 SMART
low complexity region 363 375 N/A INTRINSIC
low complexity region 429 454 N/A INTRINSIC
Pfam:Mlh1_C 504 760 8.3e-100 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000098340
AA Change: I372T

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000095944
Gene: ENSMUSG00000032497
AA Change: I372T

DomainStartEndE-ValueType
Pfam:DUF2051 31 326 2.7e-122 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135218
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196906
Predicted Effect probably benign
Transcript: ENSMUST00000196981
AA Change: I396T

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000142851
Gene: ENSMUSG00000032497
AA Change: I396T

DomainStartEndE-ValueType
Pfam:DUF2051 31 350 4.5e-113 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197241
AA Change: I387T

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000142816
Gene: ENSMUSG00000032497
AA Change: I387T

DomainStartEndE-ValueType
Pfam:DUF2051 31 341 1.3e-119 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197256
AA Change: I409T

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000143322
Gene: ENSMUSG00000032497
AA Change: I409T

DomainStartEndE-ValueType
Pfam:DUF2051 31 363 2.9e-115 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197540
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200145
Predicted Effect possibly damaging
Transcript: ENSMUST00000217117
AA Change: I345T

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216430
AA Change: I375T

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000217341
Meta Mutation Damage Score 0.0602 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 98% (65/66)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik C T 11: 58,313,630 (GRCm39) A86V possibly damaging Het
9430097D07Rik A G 2: 32,464,440 (GRCm39) probably benign Het
Actr5 T A 2: 158,477,283 (GRCm39) D411E probably benign Het
Ang5 A G 14: 44,200,302 (GRCm39) D122G probably benign Het
Atg9a A T 1: 75,162,704 (GRCm39) probably null Het
Cracd G C 5: 76,805,681 (GRCm39) probably benign Het
Dctd C T 8: 48,590,449 (GRCm39) probably benign Het
Ddx11 G A 17: 66,454,717 (GRCm39) V642M possibly damaging Het
Dis3l2 G A 1: 86,688,043 (GRCm39) V100I probably benign Het
Echdc2 T C 4: 108,029,328 (GRCm39) V111A probably benign Het
Egr1 A G 18: 34,996,711 (GRCm39) T498A probably benign Het
Exosc3 T C 4: 45,317,702 (GRCm39) K200R possibly damaging Het
Exosc8 T C 3: 54,636,644 (GRCm39) D229G probably benign Het
Ext1 T A 15: 52,955,808 (GRCm39) I430F probably damaging Het
Fbxw22 T C 9: 109,232,492 (GRCm39) N31S probably benign Het
Gja8 T C 3: 96,827,165 (GRCm39) T166A probably benign Het
Gm21814 T A 6: 149,485,116 (GRCm39) noncoding transcript Het
Gm21915 T A 9: 40,581,944 (GRCm39) H12Q probably benign Het
Hgsnat G A 8: 26,437,988 (GRCm39) R527* probably null Het
Iqgap2 A G 13: 95,810,251 (GRCm39) F731S probably benign Het
Jchain T C 5: 88,670,364 (GRCm39) H85R probably damaging Het
Kcnb2 T C 1: 15,383,186 (GRCm39) C171R probably benign Het
Kcnk3 C A 5: 30,780,149 (GRCm39) R400S possibly damaging Het
Klhl28 C T 12: 65,004,001 (GRCm39) E171K probably damaging Het
Mccc1 T C 3: 36,033,166 (GRCm39) N326S probably benign Het
Med13l T C 5: 118,731,615 (GRCm39) V97A possibly damaging Het
Mertk C A 2: 128,625,920 (GRCm39) T685K probably benign Het
Msh2 C A 17: 88,030,841 (GRCm39) A906E probably benign Het
Myom2 G A 8: 15,133,310 (GRCm39) V401M probably damaging Het
Nme5 A C 18: 34,711,738 (GRCm39) M1R probably null Het
Nop2 T C 6: 125,110,726 (GRCm39) S68P probably benign Het
Notch1 A T 2: 26,366,126 (GRCm39) D809E possibly damaging Het
Or14c39 T C 7: 86,343,793 (GRCm39) I43T possibly damaging Het
Ppat C T 5: 77,076,525 (GRCm39) probably benign Het
Prss23 T A 7: 89,159,422 (GRCm39) M216L probably benign Het
Psg18 A T 7: 18,083,279 (GRCm39) V171D probably damaging Het
Psg28 A G 7: 18,161,816 (GRCm39) V229A probably damaging Het
Qser1 T C 2: 104,618,176 (GRCm39) N879D possibly damaging Het
Rpap1 T C 2: 119,600,522 (GRCm39) N879S probably benign Het
Rusc2 T C 4: 43,415,926 (GRCm39) S411P probably damaging Het
Rxfp2 T A 5: 149,990,825 (GRCm39) W519R probably damaging Het
Scpep1 T A 11: 88,832,175 (GRCm39) Q185L probably benign Het
Serpinb11 A G 1: 107,307,379 (GRCm39) N270S probably benign Het
Serpinb6d T A 13: 33,855,427 (GRCm39) M367K probably benign Het
Skint10 T G 4: 112,584,869 (GRCm39) I213L probably benign Het
Skint5 T C 4: 113,403,734 (GRCm39) T1163A unknown Het
Slamf9 A T 1: 172,303,780 (GRCm39) I42L possibly damaging Het
Slc1a3 T C 15: 8,680,330 (GRCm39) probably benign Het
Smad6 T A 9: 63,861,182 (GRCm39) Q371L possibly damaging Het
Snx31 A T 15: 36,555,469 (GRCm39) V26E probably damaging Het
Spata31e5 A G 1: 28,816,943 (GRCm39) I363T possibly damaging Het
Taf4b A G 18: 14,955,229 (GRCm39) N594S possibly damaging Het
Tanc2 T C 11: 105,670,918 (GRCm39) S172P probably damaging Het
Tas2r110 T A 6: 132,845,438 (GRCm39) Y156* probably null Het
Tbc1d20 G A 2: 152,135,856 (GRCm39) probably benign Het
Timm50 A T 7: 28,006,284 (GRCm39) D272E probably benign Het
Ttn T G 2: 76,730,855 (GRCm39) probably benign Het
Vps13c T A 9: 67,823,661 (GRCm39) F1362I probably benign Het
Vwf T C 6: 125,543,220 (GRCm39) S154P probably benign Het
Zfp445 T C 9: 122,681,410 (GRCm39) R844G probably benign Het
Other mutations in Lrrfip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01141:Lrrfip2 APN 9 111,048,783 (GRCm39) missense probably damaging 1.00
IGL01408:Lrrfip2 APN 9 111,043,284 (GRCm39) missense probably benign 0.11
IGL01462:Lrrfip2 APN 9 111,034,917 (GRCm39) critical splice donor site probably null
IGL01845:Lrrfip2 APN 9 111,028,728 (GRCm39) splice site probably benign
IGL02218:Lrrfip2 APN 9 111,048,793 (GRCm39) missense probably benign
IGL02986:Lrrfip2 APN 9 110,990,461 (GRCm39) splice site probably null
R0091:Lrrfip2 UTSW 9 111,043,311 (GRCm39) missense probably damaging 1.00
R1101:Lrrfip2 UTSW 9 111,019,293 (GRCm39) missense probably damaging 1.00
R1722:Lrrfip2 UTSW 9 111,028,829 (GRCm39) missense probably damaging 1.00
R2334:Lrrfip2 UTSW 9 111,048,793 (GRCm39) missense probably benign
R2336:Lrrfip2 UTSW 9 111,051,283 (GRCm39) missense probably damaging 1.00
R3103:Lrrfip2 UTSW 9 111,051,278 (GRCm39) missense probably damaging 1.00
R4357:Lrrfip2 UTSW 9 111,028,755 (GRCm39) missense probably damaging 1.00
R5072:Lrrfip2 UTSW 9 111,028,872 (GRCm39) missense probably damaging 1.00
R6026:Lrrfip2 UTSW 9 111,043,239 (GRCm39) missense probably damaging 1.00
R6307:Lrrfip2 UTSW 9 111,053,021 (GRCm39) missense probably damaging 1.00
R6870:Lrrfip2 UTSW 9 111,045,187 (GRCm39) intron probably benign
R7099:Lrrfip2 UTSW 9 111,002,176 (GRCm39) missense probably benign 0.04
R7312:Lrrfip2 UTSW 9 111,006,525 (GRCm39) splice site probably null
R7429:Lrrfip2 UTSW 9 111,014,194 (GRCm39) splice site probably null
R7847:Lrrfip2 UTSW 9 111,042,948 (GRCm39) missense probably damaging 1.00
R7866:Lrrfip2 UTSW 9 111,022,149 (GRCm39) missense possibly damaging 0.95
R7912:Lrrfip2 UTSW 9 111,034,836 (GRCm39) missense probably damaging 1.00
R8872:Lrrfip2 UTSW 9 111,034,824 (GRCm39) missense possibly damaging 0.95
R9103:Lrrfip2 UTSW 9 111,034,840 (GRCm39) missense probably damaging 0.99
R9325:Lrrfip2 UTSW 9 110,990,429 (GRCm39) missense possibly damaging 0.68
Z1176:Lrrfip2 UTSW 9 110,990,408 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGGTTTTGCAGCTTTTACACATTG -3'
(R):5'- GAAGGGGCTTGTGTCAATGTAC -3'

Sequencing Primer
(F):5'- GCACCATTGCTTAGGCCTCTAG -3'
(R):5'- GGCTTGTGTCAATGTACAAAAGAGTC -3'
Posted On 2016-06-06