Incidental Mutation 'IGL01141:Lrrfip2'
ID 52001
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrfip2
Ensembl Gene ENSMUSG00000032497
Gene Name leucine rich repeat (in FLII) interacting protein 2
Synonyms 5133400F20Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # IGL01141
Quality Score
Status
Chromosome 9
Chromosomal Location 110946660-111054736 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 111048783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 311 (R311W)
Ref Sequence ENSEMBL: ENSMUSP00000143322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035078] [ENSMUST00000098340] [ENSMUST00000196981] [ENSMUST00000197241] [ENSMUST00000197256] [ENSMUST00000217341] [ENSMUST00000217117] [ENSMUST00000216430]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000035078
AA Change: R289W

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000035078
Gene: ENSMUSG00000032497
AA Change: R289W

DomainStartEndE-ValueType
Pfam:DUF2051 31 340 2.5e-106 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000098340
AA Change: R274W

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095944
Gene: ENSMUSG00000032497
AA Change: R274W

DomainStartEndE-ValueType
Pfam:DUF2051 31 326 2.7e-122 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196906
Predicted Effect probably damaging
Transcript: ENSMUST00000196981
AA Change: R298W

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142851
Gene: ENSMUSG00000032497
AA Change: R298W

DomainStartEndE-ValueType
Pfam:DUF2051 31 350 4.5e-113 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000197241
AA Change: R289W

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142816
Gene: ENSMUSG00000032497
AA Change: R289W

DomainStartEndE-ValueType
Pfam:DUF2051 31 341 1.3e-119 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000197256
AA Change: R311W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000143322
Gene: ENSMUSG00000032497
AA Change: R311W

DomainStartEndE-ValueType
Pfam:DUF2051 31 363 2.9e-115 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199711
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197540
Predicted Effect probably benign
Transcript: ENSMUST00000217341
Predicted Effect probably damaging
Transcript: ENSMUST00000217117
AA Change: R247W

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000216430
AA Change: R277W

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A T 11: 109,828,556 (GRCm39) D1447E probably damaging Het
Atp2a3 T C 11: 72,873,491 (GRCm39) I788T probably damaging Het
Axin1 G A 17: 26,409,015 (GRCm39) E672K probably damaging Het
Ccno A G 13: 113,125,561 (GRCm39) D175G probably damaging Het
Cep83 C A 10: 94,624,619 (GRCm39) T632K probably benign Het
Ckmt1 A T 2: 121,193,474 (GRCm39) I345F probably benign Het
Cntnap1 G A 11: 101,069,633 (GRCm39) probably benign Het
Cstdc3 A G 16: 36,128,426 (GRCm39) E7G probably benign Het
Edem2 A G 2: 155,550,948 (GRCm39) Y340H probably benign Het
Erich3 A G 3: 154,419,653 (GRCm39) K249R probably benign Het
Fndc9 T C 11: 46,128,526 (GRCm39) I15T probably benign Het
Grip2 G T 6: 91,759,878 (GRCm39) Q300K probably benign Het
Herc2 T C 7: 55,862,589 (GRCm39) V4050A possibly damaging Het
Jup A T 11: 100,277,075 (GRCm39) D44E probably benign Het
Lingo3 G T 10: 80,671,147 (GRCm39) P261Q probably damaging Het
Mansc1 C A 6: 134,598,748 (GRCm39) L56F probably benign Het
Map1b A G 13: 99,571,269 (GRCm39) I484T probably damaging Het
Mpeg1 T A 19: 12,440,149 (GRCm39) F536I probably damaging Het
Mrgprb1 T G 7: 48,097,775 (GRCm39) T46P probably benign Het
Mug1 A G 6: 121,847,458 (GRCm39) N612S probably benign Het
Or5p56 T C 7: 107,589,758 (GRCm39) F62S probably damaging Het
Or6c212 T A 10: 129,558,814 (GRCm39) I200L probably benign Het
Pax8 A G 2: 24,331,162 (GRCm39) S178P probably damaging Het
Peak1 A G 9: 56,165,811 (GRCm39) F706L probably benign Het
Prkdc A G 16: 15,544,568 (GRCm39) T1853A probably damaging Het
Reln A C 5: 22,174,031 (GRCm39) F2024C probably damaging Het
Reln G T 5: 22,124,067 (GRCm39) P2813Q probably damaging Het
Riox1 A G 12: 83,998,568 (GRCm39) Q368R probably damaging Het
Rspry1 T C 8: 95,376,483 (GRCm39) V335A probably benign Het
Scn3a T C 2: 65,325,457 (GRCm39) N1020S possibly damaging Het
Scyl2 A G 10: 89,476,497 (GRCm39) V876A probably benign Het
Sdhaf3 T A 6: 6,956,141 (GRCm39) F39I probably damaging Het
Sfxn4 T C 19: 60,839,452 (GRCm39) E202G possibly damaging Het
Slc1a4 A T 11: 20,258,644 (GRCm39) probably benign Het
Sln A G 9: 53,760,784 (GRCm39) I10V probably benign Het
Ssh2 A G 11: 77,340,552 (GRCm39) E568G probably damaging Het
Supt7l G A 5: 31,675,779 (GRCm39) P270S probably benign Het
Tanc2 A G 11: 105,777,300 (GRCm39) probably benign Het
Tatdn1 A T 15: 58,781,416 (GRCm39) probably benign Het
Tfip11 C T 5: 112,477,369 (GRCm39) P117L possibly damaging Het
Vpreb1a T C 16: 16,686,951 (GRCm39) M9V probably benign Het
Other mutations in Lrrfip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5010:Lrrfip2 UTSW 9 111,053,040 (GRCm39) missense possibly damaging 0.79
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
Posted On 2013-06-21