Incidental Mutation 'R0402:Lrfn5'
ID 35636
Institutional Source Beutler Lab
Gene Symbol Lrfn5
Ensembl Gene ENSMUSG00000035653
Gene Name leucine rich repeat and fibronectin type III domain containing 5
Synonyms
MMRRC Submission 038607-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R0402 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 61569936-61905128 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 61886803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 197 (M197T)
Ref Sequence ENSEMBL: ENSMUSP00000113123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055815] [ENSMUST00000119481]
AlphaFold Q8BXA0
Predicted Effect probably benign
Transcript: ENSMUST00000055815
AA Change: M197T

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000051546
Gene: ENSMUSG00000035653
AA Change: M197T

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
LRRNT 19 55 1.11e1 SMART
LRR 74 97 3.07e-1 SMART
LRR_TYP 98 121 1.2e-3 SMART
LRR_TYP 122 145 8.94e-3 SMART
LRR 146 169 6.58e0 SMART
LRR_TYP 170 193 8.34e-3 SMART
LRR 194 218 2.47e1 SMART
LRRCT 240 285 1.65e-2 SMART
IGc2 299 364 3.53e-13 SMART
low complexity region 393 412 N/A INTRINSIC
Blast:FN3 414 495 2e-48 BLAST
transmembrane domain 528 550 N/A INTRINSIC
low complexity region 613 627 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119481
AA Change: M197T

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113123
Gene: ENSMUSG00000035653
AA Change: M197T

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
LRRNT 19 55 1.11e1 SMART
LRR 74 97 3.07e-1 SMART
LRR_TYP 98 121 1.2e-3 SMART
LRR_TYP 122 145 8.94e-3 SMART
LRR 146 169 6.58e0 SMART
LRR_TYP 170 193 8.34e-3 SMART
LRR 194 218 2.47e1 SMART
LRRCT 240 285 1.65e-2 SMART
IGc2 299 364 3.53e-13 SMART
low complexity region 393 412 N/A INTRINSIC
Blast:FN3 414 495 2e-48 BLAST
transmembrane domain 528 550 N/A INTRINSIC
low complexity region 613 627 N/A INTRINSIC
Meta Mutation Damage Score 0.3006 question?
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.0%
  • 10x: 94.5%
  • 20x: 88.7%
Validation Efficiency 100% (74/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the leucine-rich repeat and fibronectin type III domain-containing family of proteins. A similar protein in mouse, a glycosylated transmembrane protein, is thought to function in presynaptic differentiation. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A T 10: 100,445,115 (GRCm39) K165N probably damaging Het
Adam6b T A 12: 113,453,615 (GRCm39) M144K probably damaging Het
Arhgap44 T C 11: 64,922,903 (GRCm39) probably benign Het
Arl5c T A 11: 97,885,939 (GRCm39) I21F probably damaging Het
Bglap2 C T 3: 88,285,552 (GRCm39) G40D probably damaging Het
Bptf T C 11: 106,964,940 (GRCm39) E1303G probably damaging Het
Calhm1 T C 19: 47,129,896 (GRCm39) T209A probably damaging Het
Ccr8 A G 9: 119,923,976 (GRCm39) probably null Het
Chkb C T 15: 89,313,610 (GRCm39) R65Q probably benign Het
Col4a1 T C 8: 11,249,838 (GRCm39) probably benign Het
Cryzl2 A G 1: 157,292,014 (GRCm39) T98A probably benign Het
D430041D05Rik T C 2: 103,998,509 (GRCm39) T1080A probably damaging Het
Dhx8 C A 11: 101,643,223 (GRCm39) T765N probably damaging Het
Dicer1 T C 12: 104,697,323 (GRCm39) D78G probably benign Het
Drd2 A G 9: 49,316,271 (GRCm39) I344V probably benign Het
Edil3 A T 13: 89,347,570 (GRCm39) probably benign Het
Fbxw19 C T 9: 109,313,493 (GRCm39) G235D probably benign Het
Fzd1 T C 5: 4,805,702 (GRCm39) K627E possibly damaging Het
Garin1b A G 6: 29,323,901 (GRCm39) T209A probably benign Het
Garin4 T C 1: 190,896,637 (GRCm39) D2G probably benign Het
Gm10638 A G 8: 87,472,828 (GRCm39) probably benign Het
H6pd G T 4: 150,080,773 (GRCm39) A24E probably damaging Het
Hectd2 G T 19: 36,578,929 (GRCm39) probably null Het
Hps5 A G 7: 46,440,333 (GRCm39) probably benign Het
Irx3 T C 8: 92,527,296 (GRCm39) N136S possibly damaging Het
Kcmf1 T C 6: 72,826,568 (GRCm39) M1V probably null Het
Klrb1 A T 6: 128,687,583 (GRCm39) F104I probably benign Het
Mpdz A C 4: 81,279,677 (GRCm39) M51R possibly damaging Het
Mtbp G T 15: 55,432,466 (GRCm39) E258* probably null Het
Mylk3 T A 8: 86,079,539 (GRCm39) H373L probably damaging Het
Myrfl A G 10: 116,664,882 (GRCm39) S383P probably damaging Het
Nt5c T C 11: 115,381,468 (GRCm39) *195W probably null Het
Ocstamp A G 2: 165,238,184 (GRCm39) V360A possibly damaging Het
Or10ak16 A T 4: 118,750,426 (GRCm39) I49F possibly damaging Het
Or10al6 T A 17: 38,083,284 (GRCm39) C247S probably damaging Het
Or4k35 A G 2: 111,100,208 (GRCm39) F168S probably damaging Het
Or4p19 A T 2: 88,242,378 (GRCm39) V208D probably damaging Het
Or5an9 A G 19: 12,186,953 (GRCm39) T8A probably damaging Het
Otop2 T C 11: 115,217,234 (GRCm39) probably benign Het
Pom121l2 A T 13: 22,172,649 (GRCm39) probably benign Het
Pon2 T A 6: 5,272,410 (GRCm39) K137* probably null Het
Ppip5k2 T A 1: 97,647,579 (GRCm39) Q1049L probably benign Het
Ralgapa2 C T 2: 146,276,729 (GRCm39) V504M probably damaging Het
Rph3a G A 5: 121,080,317 (GRCm39) H654Y probably damaging Het
Sh2d1b1 T C 1: 170,107,342 (GRCm39) probably benign Het
Slc15a2 G A 16: 36,595,960 (GRCm39) T154I probably benign Het
Slc45a3 T C 1: 131,905,265 (GRCm39) V96A possibly damaging Het
Slc7a4 A G 16: 17,393,497 (GRCm39) S101P probably damaging Het
Smco2 T C 6: 146,772,633 (GRCm39) probably benign Het
Spata2 A T 2: 167,325,580 (GRCm39) V413E probably benign Het
Specc1l A G 10: 75,082,260 (GRCm39) E552G probably damaging Het
Sstr5 C T 17: 25,711,008 (GRCm39) V74M probably benign Het
Timm50 G A 7: 28,006,280 (GRCm39) R274W probably damaging Het
Tll2 A G 19: 41,087,132 (GRCm39) V573A possibly damaging Het
Tm7sf3 C A 6: 146,507,685 (GRCm39) R459M possibly damaging Het
Txk A G 5: 72,889,105 (GRCm39) probably null Het
Uroc1 A G 6: 90,324,284 (GRCm39) D436G probably damaging Het
Vmn1r13 T A 6: 57,187,083 (GRCm39) Y81N possibly damaging Het
Vmn2r19 A G 6: 123,313,141 (GRCm39) E737G probably damaging Het
Wfs1 A G 5: 37,134,324 (GRCm39) probably benign Het
Zfp1 G A 8: 112,396,875 (GRCm39) E285K probably damaging Het
Zfp1005 T A 2: 150,111,136 (GRCm39) C609S possibly damaging Het
Zfp661 G A 2: 127,419,640 (GRCm39) Q167* probably null Het
Zswim8 T C 14: 20,760,834 (GRCm39) F36S probably damaging Het
Zw10 A G 9: 48,980,023 (GRCm39) T385A probably benign Het
Other mutations in Lrfn5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00492:Lrfn5 APN 12 61,890,912 (GRCm39) missense probably benign
IGL02010:Lrfn5 APN 12 61,886,469 (GRCm39) missense probably damaging 0.96
IGL03033:Lrfn5 APN 12 61,886,833 (GRCm39) missense probably damaging 1.00
IGL03094:Lrfn5 APN 12 61,886,532 (GRCm39) missense probably benign 0.00
IGL03207:Lrfn5 APN 12 61,890,112 (GRCm39) missense probably damaging 1.00
falstaffian UTSW 12 61,890,348 (GRCm39) missense probably benign 0.21
PIT4696001:Lrfn5 UTSW 12 61,890,343 (GRCm39) missense probably damaging 1.00
R0738:Lrfn5 UTSW 12 61,887,378 (GRCm39) nonsense probably null
R0744:Lrfn5 UTSW 12 61,886,454 (GRCm39) missense probably damaging 1.00
R0833:Lrfn5 UTSW 12 61,886,454 (GRCm39) missense probably damaging 1.00
R0973:Lrfn5 UTSW 12 61,890,223 (GRCm39) missense probably damaging 1.00
R0973:Lrfn5 UTSW 12 61,890,223 (GRCm39) missense probably damaging 1.00
R0974:Lrfn5 UTSW 12 61,890,223 (GRCm39) missense probably damaging 1.00
R1073:Lrfn5 UTSW 12 61,887,595 (GRCm39) missense probably damaging 1.00
R1332:Lrfn5 UTSW 12 61,904,314 (GRCm39) splice site probably benign
R1500:Lrfn5 UTSW 12 61,886,527 (GRCm39) missense probably damaging 1.00
R2039:Lrfn5 UTSW 12 61,887,109 (GRCm39) missense possibly damaging 0.82
R3834:Lrfn5 UTSW 12 61,886,816 (GRCm39) missense probably damaging 1.00
R4171:Lrfn5 UTSW 12 61,890,168 (GRCm39) missense probably damaging 1.00
R4212:Lrfn5 UTSW 12 61,890,606 (GRCm39) missense probably benign
R4394:Lrfn5 UTSW 12 61,890,276 (GRCm39) missense probably damaging 1.00
R4578:Lrfn5 UTSW 12 61,890,763 (GRCm39) missense probably benign
R4661:Lrfn5 UTSW 12 61,886,433 (GRCm39) missense probably damaging 1.00
R4730:Lrfn5 UTSW 12 61,887,505 (GRCm39) missense probably benign 0.03
R4955:Lrfn5 UTSW 12 61,886,764 (GRCm39) missense probably benign 0.29
R4968:Lrfn5 UTSW 12 61,886,461 (GRCm39) missense probably damaging 1.00
R4970:Lrfn5 UTSW 12 61,886,461 (GRCm39) missense probably damaging 1.00
R5078:Lrfn5 UTSW 12 61,890,660 (GRCm39) missense possibly damaging 0.47
R5165:Lrfn5 UTSW 12 61,886,410 (GRCm39) missense possibly damaging 0.89
R5768:Lrfn5 UTSW 12 61,886,509 (GRCm39) missense probably benign 0.44
R5892:Lrfn5 UTSW 12 61,890,204 (GRCm39) missense probably damaging 1.00
R6133:Lrfn5 UTSW 12 61,890,574 (GRCm39) missense probably benign 0.22
R6211:Lrfn5 UTSW 12 61,886,256 (GRCm39) missense probably benign 0.00
R6297:Lrfn5 UTSW 12 61,890,348 (GRCm39) missense probably benign 0.21
R6341:Lrfn5 UTSW 12 61,890,368 (GRCm39) nonsense probably null
R6861:Lrfn5 UTSW 12 61,886,476 (GRCm39) missense probably damaging 1.00
R7179:Lrfn5 UTSW 12 61,890,768 (GRCm39) missense probably benign
R7392:Lrfn5 UTSW 12 61,887,090 (GRCm39) missense probably benign 0.00
R8224:Lrfn5 UTSW 12 61,890,192 (GRCm39) missense possibly damaging 0.91
R8261:Lrfn5 UTSW 12 61,886,323 (GRCm39) missense probably damaging 1.00
R9528:Lrfn5 UTSW 12 61,886,408 (GRCm39) missense probably benign 0.28
R9641:Lrfn5 UTSW 12 61,886,540 (GRCm39) missense probably damaging 1.00
R9652:Lrfn5 UTSW 12 61,890,418 (GRCm39) missense probably damaging 0.99
R9653:Lrfn5 UTSW 12 61,890,418 (GRCm39) missense probably damaging 0.99
Z1177:Lrfn5 UTSW 12 61,886,603 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTGTCCAAAGCGTTGTGTCTGTC -3'
(R):5'- AAGCACACGTCTCAAGGTCATCTTC -3'

Sequencing Primer
(F):5'- GCCAATATGACCAGCTTGGTG -3'
(R):5'- TGCAAAAGTCGATGGGCT -3'
Posted On 2013-05-09