Incidental Mutation 'R9103:Lrrfip2'
ID 691823
Institutional Source Beutler Lab
Gene Symbol Lrrfip2
Ensembl Gene ENSMUSG00000032497
Gene Name leucine rich repeat (in FLII) interacting protein 2
Synonyms 5133400F20Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R9103 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 110946660-111054736 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 111034840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 176 (K176N)
Ref Sequence ENSEMBL: ENSMUSP00000095944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035078] [ENSMUST00000098340] [ENSMUST00000196981] [ENSMUST00000197241] [ENSMUST00000197256] [ENSMUST00000198986] [ENSMUST00000216430] [ENSMUST00000217117] [ENSMUST00000217341]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000035078
AA Change: K191N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000035078
Gene: ENSMUSG00000032497
AA Change: K191N

DomainStartEndE-ValueType
Pfam:DUF2051 31 340 2.5e-106 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000098340
AA Change: K176N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095944
Gene: ENSMUSG00000032497
AA Change: K176N

DomainStartEndE-ValueType
Pfam:DUF2051 31 326 2.7e-122 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000142851
Gene: ENSMUSG00000032497
AA Change: K200N

DomainStartEndE-ValueType
Pfam:DUF2051 31 350 4.5e-113 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000197241
AA Change: K191N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142816
Gene: ENSMUSG00000032497
AA Change: K191N

DomainStartEndE-ValueType
Pfam:DUF2051 31 341 1.3e-119 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000197256
AA Change: K213N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143322
Gene: ENSMUSG00000032497
AA Change: K213N

DomainStartEndE-ValueType
Pfam:DUF2051 31 363 2.9e-115 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000198986
AA Change: K129N

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143756
Gene: ENSMUSG00000032497
AA Change: K129N

DomainStartEndE-ValueType
Pfam:DUF2051 10 174 1.9e-56 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216430
AA Change: K152N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000217117
AA Change: K149N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000217341
AA Change: K381N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (73/73)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b T A 12: 113,454,558 (GRCm39) C458* probably null Het
Adgra2 G A 8: 27,603,436 (GRCm39) G407D probably damaging Het
Aox4 G A 1: 58,296,441 (GRCm39) G1046E probably damaging Het
Arhgap27 A G 11: 103,251,540 (GRCm39) Y63H probably damaging Het
Ascl3 A T 7: 109,327,127 (GRCm39) M64K probably benign Het
Cacna2d3 G A 14: 29,068,971 (GRCm39) T252I probably damaging Het
Capn7 A G 14: 31,091,732 (GRCm39) T710A probably benign Het
Carmil1 A G 13: 24,295,836 (GRCm39) C393R probably benign Het
Chd5 A C 4: 152,461,444 (GRCm39) E1215A possibly damaging Het
Cntnap1 A G 11: 101,072,094 (GRCm39) N449S probably benign Het
Cpz G A 5: 35,675,054 (GRCm39) S65L probably benign Het
Cyp2c68 T A 19: 39,727,625 (GRCm39) N118I possibly damaging Het
Ddx25 A T 9: 35,458,085 (GRCm39) F345I probably benign Het
Dennd2d T C 3: 106,397,684 (GRCm39) Y161H Het
Egfl8 C T 17: 34,833,210 (GRCm39) D179N probably benign Het
Eif2a A G 3: 58,452,461 (GRCm39) N174S Het
Farp1 C T 14: 121,509,104 (GRCm39) H643Y possibly damaging Het
Fat1 G T 8: 45,404,850 (GRCm39) V534L probably benign Het
Fbxo48 A G 11: 16,903,556 (GRCm39) T61A probably benign Het
Fnbp4 A G 2: 90,608,187 (GRCm39) T970A probably benign Het
Foxd1 T A 13: 98,491,763 (GRCm39) D212E possibly damaging Het
Fstl4 C A 11: 52,664,696 (GRCm39) H9N probably benign Het
Fyb1 A G 15: 6,673,232 (GRCm39) D622G possibly damaging Het
Gm4787 T A 12: 81,425,489 (GRCm39) H223L probably benign Het
Grin3a A G 4: 49,771,179 (GRCm39) V531A probably damaging Het
Gzmb T C 14: 56,498,622 (GRCm39) D42G probably benign Het
Herc2 T A 7: 55,784,803 (GRCm39) Y1416N possibly damaging Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Hsd17b6 A G 10: 127,833,876 (GRCm39) W2R probably damaging Het
Hspa4l T C 3: 40,715,349 (GRCm39) probably null Het
Igtp A G 11: 58,097,726 (GRCm39) E299G Het
Klhl28 T C 12: 64,990,300 (GRCm39) D547G possibly damaging Het
Leng8 G C 7: 4,146,897 (GRCm39) R473P probably damaging Het
Lin37 T A 7: 30,257,055 (GRCm39) N53Y possibly damaging Het
Lrp1 G A 10: 127,430,979 (GRCm39) Q357* probably null Het
Ltbp4 A G 7: 27,028,186 (GRCm39) S390P unknown Het
Map3k2 G A 18: 32,353,625 (GRCm39) R465H possibly damaging Het
Mthfd1 T A 12: 76,350,517 (GRCm39) V665E probably damaging Het
Myh3 A T 11: 66,989,451 (GRCm39) I1524F probably benign Het
Myo1g A G 11: 6,466,153 (GRCm39) S339P possibly damaging Het
Nf1 A G 11: 79,450,332 (GRCm39) K506R probably damaging Het
Nudt21 A G 8: 94,746,321 (GRCm39) I225T probably benign Het
Or4c31 A G 2: 88,291,942 (GRCm39) K105R probably benign Het
Or56b1b A T 7: 108,164,780 (GRCm39) L74Q probably benign Het
Or5g9 T A 2: 85,552,527 (GRCm39) Y259* probably null Het
Or8b3 A G 9: 38,314,518 (GRCm39) Y116C probably damaging Het
Or8c18 A T 9: 38,203,969 (GRCm39) I243F probably damaging Het
Pax2 C T 19: 44,806,968 (GRCm39) T299I probably benign Het
Pde4dip C T 3: 97,749,044 (GRCm39) S99N probably damaging Het
Pdlim5 T A 3: 142,010,174 (GRCm39) H147L possibly damaging Het
Pfkfb3 T A 2: 11,487,381 (GRCm39) Y343F probably damaging Het
Phf10 A G 17: 15,174,382 (GRCm39) I232T probably damaging Het
Plcb3 C T 19: 6,936,288 (GRCm39) G745D probably benign Het
Pramel11 G A 4: 143,624,381 (GRCm39) L39F probably damaging Het
Recql C A 6: 142,322,515 (GRCm39) C129F possibly damaging Het
Rrp1 C T 10: 78,240,876 (GRCm39) D288N unknown Het
Samd4 T C 14: 47,254,066 (GRCm39) Y177H probably benign Het
Sim1 T A 10: 50,785,525 (GRCm39) M198K possibly damaging Het
Six4 T C 12: 73,155,964 (GRCm39) I334M probably damaging Het
Slc27a6 T C 18: 58,705,268 (GRCm39) S217P probably damaging Het
Slc2a4 T A 11: 69,836,218 (GRCm39) K264N probably benign Het
Slc8b1 A T 5: 120,670,939 (GRCm39) I476F probably benign Het
Smcp T C 3: 92,491,838 (GRCm39) D3G unknown Het
Tagap A T 17: 8,152,335 (GRCm39) M507L probably benign Het
Thap11 A G 8: 106,582,780 (GRCm39) E263G probably damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Top3a T G 11: 60,654,253 (GRCm39) probably null Het
Ube2q2l T A 6: 136,378,011 (GRCm39) D273V probably benign Het
Vmn1r31 A G 6: 58,449,073 (GRCm39) V264A unknown Het
Vti1a A C 19: 55,316,865 (GRCm39) M81L probably benign Het
Wscd1 T C 11: 71,674,245 (GRCm39) probably null Het
Zfp595 T C 13: 67,464,676 (GRCm39) E532G probably damaging Het
Zranb1 T A 7: 132,584,167 (GRCm39) V539D probably damaging 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
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
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'- CACATGGGACCTCTGTGTTAAATTAC -3'
(R):5'- TGAGAGAGCCAAGTTGACAC -3'

Sequencing Primer
(F):5'- GTGTTAAATTACACATGCTCAGCTTG -3'
(R):5'- GGTCCCTTTAGTGGTCAAACAAC -3'
Posted On 2021-12-30