Incidental Mutation 'R6307:Lrrfip2'
ID 509483
Institutional Source Beutler Lab
Gene Symbol Lrrfip2
Ensembl Gene ENSMUSG00000032497
Gene Name leucine rich repeat (in FLII) interacting protein 2
Synonyms 5133400F20Rik
MMRRC Submission 044412-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R6307 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 110946660-111054736 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 111053021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 339 (R339W)
Ref Sequence ENSEMBL: ENSMUSP00000151145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035078] [ENSMUST00000035079] [ENSMUST00000098340] [ENSMUST00000135218] [ENSMUST00000196981] [ENSMUST00000197241] [ENSMUST00000197256] [ENSMUST00000216430] [ENSMUST00000217117] [ENSMUST00000217341]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000035078
AA Change: R381W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035078
Gene: ENSMUSG00000032497
AA Change: R381W

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 probably damaging
Transcript: ENSMUST00000098340
AA Change: R366W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095944
Gene: ENSMUSG00000032497
AA Change: R366W

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 damaging
Transcript: ENSMUST00000196981
AA Change: R390W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142851
Gene: ENSMUSG00000032497
AA Change: R390W

DomainStartEndE-ValueType
Pfam:DUF2051 31 350 4.5e-113 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000197241
AA Change: R381W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142816
Gene: ENSMUSG00000032497
AA Change: R381W

DomainStartEndE-ValueType
Pfam:DUF2051 31 341 1.3e-119 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000197256
AA Change: R403W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143322
Gene: ENSMUSG00000032497
AA Change: R403W

DomainStartEndE-ValueType
Pfam:DUF2051 31 363 2.9e-115 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216430
AA Change: R369W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217117
AA Change: R339W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197540
Predicted Effect probably benign
Transcript: ENSMUST00000217341
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200145
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,843,221 (GRCm39) L1232P probably damaging Het
Akap6 A T 12: 53,188,351 (GRCm39) I1922F possibly damaging Het
Ankdd1a C T 9: 65,415,343 (GRCm39) A227T possibly damaging Het
Arpc5 T C 1: 152,647,206 (GRCm39) V103A possibly damaging Het
Atp9a C A 2: 168,510,090 (GRCm39) V430F probably benign Het
Bod1 A G 11: 31,616,932 (GRCm39) S110P probably damaging Het
Cacna1c C A 6: 118,590,914 (GRCm39) V1453F probably damaging Het
Capn8 T A 1: 182,435,264 (GRCm39) M414K probably damaging Het
Cbl A T 9: 44,069,809 (GRCm39) probably null Het
Ccdc42 A T 11: 68,479,106 (GRCm39) Q98L probably damaging Het
Ccn3 T C 15: 54,611,421 (GRCm39) probably null Het
Cd200 C A 16: 45,217,545 (GRCm39) V49L probably benign Het
Celsr1 A G 15: 85,812,531 (GRCm39) S2060P probably benign Het
Ces1g A T 8: 94,057,820 (GRCm39) H160Q possibly damaging Het
Chrnb2 G T 3: 89,668,831 (GRCm39) H161Q probably damaging Het
Ctns G A 11: 73,082,559 (GRCm39) T57I probably benign Het
Cyp3a25 A T 5: 145,931,766 (GRCm39) M114K possibly damaging Het
D630003M21Rik A G 2: 158,057,871 (GRCm39) F536L probably benign Het
Dcc C T 18: 71,943,826 (GRCm39) R275Q probably benign Het
Dmxl2 A T 9: 54,289,990 (GRCm39) H2508Q possibly damaging Het
Elf5 C A 2: 103,269,757 (GRCm39) Q113K probably damaging Het
Fam83a T G 15: 57,849,507 (GRCm39) V17G possibly damaging Het
Farsa T C 8: 85,587,674 (GRCm39) probably null Het
Fat2 G C 11: 55,172,106 (GRCm39) T2869S possibly damaging Het
Fgg A T 3: 82,920,283 (GRCm39) Q354L probably damaging Het
Folh1 T C 7: 86,372,517 (GRCm39) D679G probably damaging Het
Gbp4 T A 5: 105,270,975 (GRCm39) R83* probably null Het
Gm17482 T A 6: 115,204,311 (GRCm39) probably benign Het
Hmgxb4 T A 8: 75,749,927 (GRCm39) V481D possibly damaging Het
Ifi207 A C 1: 173,552,619 (GRCm39) Y926D probably damaging Het
Ikzf5 T A 7: 130,993,377 (GRCm39) N264Y probably damaging Het
Kat6a T A 8: 23,430,384 (GRCm39) M1913K unknown Het
Krt33b A T 11: 99,915,694 (GRCm39) C351S probably benign Het
Lrp1 T C 10: 127,427,944 (GRCm39) D543G probably damaging Het
Mapk3 T G 7: 126,363,454 (GRCm39) M276R probably benign Het
Mgst1 T C 6: 138,127,827 (GRCm39) V137A probably benign Het
Muc16 T C 9: 18,558,884 (GRCm39) T2470A unknown Het
Muc4 C T 16: 32,575,237 (GRCm39) S1274F possibly damaging Het
Myo5c A C 9: 75,180,198 (GRCm39) K713T possibly damaging Het
Myzap T C 9: 71,466,146 (GRCm39) D170G possibly damaging Het
Naa50 T C 16: 43,979,831 (GRCm39) V113A probably damaging Het
Neu3 T C 7: 99,462,929 (GRCm39) T265A probably benign Het
Nin T C 12: 70,061,631 (GRCm39) T2078A possibly damaging Het
Nomo1 G A 7: 45,683,260 (GRCm39) probably benign Het
Nprl3 A G 11: 32,189,828 (GRCm39) L273P probably damaging Het
Oaf T A 9: 43,136,216 (GRCm39) H120L possibly damaging Het
Or10s1 T C 9: 39,985,824 (GRCm39) S78P probably damaging Het
Or13p4 C T 4: 118,547,145 (GRCm39) R168H probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Or8k21 T C 2: 86,145,468 (GRCm39) H54R probably benign Het
Pcdhga3 T A 18: 37,809,674 (GRCm39) probably benign Het
Polq G A 16: 36,837,718 (GRCm39) probably null Het
Prdm8 C T 5: 98,333,162 (GRCm39) P243L possibly damaging Het
Prim2 T C 1: 33,701,373 (GRCm39) D138G probably benign Het
Prl2c5 A G 13: 13,365,175 (GRCm39) E107G probably benign Het
Prr14l T A 5: 32,984,869 (GRCm39) H1542L probably damaging Het
Rab26 T C 17: 24,749,072 (GRCm39) E203G probably damaging Het
Rtkn2 A T 10: 67,871,662 (GRCm39) H350L possibly damaging Het
Scara3 T C 14: 66,175,710 (GRCm39) D19G probably benign Het
Scn3a A G 2: 65,302,685 (GRCm39) S1254P probably damaging Het
Sdcbp A G 4: 6,385,059 (GRCm39) M93V probably benign Het
Sema6a C A 18: 47,382,231 (GRCm39) R772L probably damaging Het
Slc5a7 T C 17: 54,584,006 (GRCm39) K428R probably benign Het
Sptbn2 G A 19: 4,774,674 (GRCm39) G109D probably damaging Het
Tmppe T C 9: 114,233,812 (GRCm39) L37P probably benign Het
Tuba1a T C 15: 98,849,410 (GRCm39) T56A probably benign Het
Tut4 T A 4: 108,412,817 (GRCm39) I1506N probably damaging Het
Vmn2r111 A G 17: 22,792,070 (GRCm39) I62T probably benign Het
Vmn2r73 A G 7: 85,506,828 (GRCm39) I828T probably damaging Het
Vmn2r79 T A 7: 86,686,976 (GRCm39) W786R probably damaging Het
Zp1 G A 19: 10,894,084 (GRCm39) T405M probably null 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
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'- GGTTTTGCTTCAGATGACATCAGG -3'
(R):5'- AAAAGAGTCAGCATCTCCCG -3'

Sequencing Primer
(F):5'- CAGATGACATCAGGTTTTGCAGC -3'
(R):5'- AGTCAGCATCTCCCGGCAAG -3'
Posted On 2018-04-02