Incidental Mutation 'PIT4696001:Lrfn5'
ID 556809
Institutional Source Beutler Lab
Gene Symbol Lrfn5
Ensembl Gene ENSMUSG00000035653
Gene Name leucine rich repeat and fibronectin type III domain containing 5
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # PIT4696001 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 61569936-61905128 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 61890343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 544 (F544S)
Ref Sequence ENSEMBL: ENSMUSP00000051546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055815] [ENSMUST00000119481]
AlphaFold Q8BXA0
Predicted Effect probably damaging
Transcript: ENSMUST00000055815
AA Change: F544S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051546
Gene: ENSMUSG00000035653
AA Change: F544S

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 damaging
Transcript: ENSMUST00000119481
AA Change: F544S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113123
Gene: ENSMUSG00000035653
AA Change: F544S

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
Coding Region Coverage
  • 1x: 93.5%
  • 3x: 91.0%
  • 10x: 86.2%
  • 20x: 75.9%
Validation Efficiency 100% (57/57)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 G A 7: 119,384,209 (GRCm39) probably null Het
Adam20 T A 8: 41,247,985 (GRCm39) Y32N probably benign Het
Adm T C 7: 110,227,496 (GRCm39) V4A probably benign Het
Anpep G A 7: 79,489,212 (GRCm39) T320I possibly damaging Het
Atp8b1 T C 18: 64,672,341 (GRCm39) S1008G possibly damaging Het
B9d1 T A 11: 61,396,069 (GRCm39) M12K possibly damaging Het
Cad T C 5: 31,229,438 (GRCm39) L1435P probably damaging Het
Cat T C 2: 103,302,157 (GRCm39) D180G probably damaging Het
Cntln C T 4: 84,892,237 (GRCm39) T374M probably damaging Het
Cyp2a5 G A 7: 26,540,404 (GRCm39) R339Q probably benign Het
Defa22 T C 8: 21,652,352 (GRCm39) L6P probably damaging Het
Dr1 T A 5: 108,417,604 (GRCm39) I50K probably damaging Het
Eln C T 5: 134,766,032 (GRCm39) G57E unknown Het
Fat4 T C 3: 38,943,153 (GRCm39) I682T probably benign Het
Fat4 C A 3: 39,036,506 (GRCm39) A3386E probably damaging Het
Fcgr3 T A 1: 170,885,319 (GRCm39) Y102F probably damaging Het
Gm5930 A T 14: 44,573,993 (GRCm39) L115M probably damaging Het
Herc1 T A 9: 66,386,291 (GRCm39) V3748D probably damaging Het
Ino80d A G 1: 63,125,145 (GRCm39) S106P probably benign Het
Kcns3 C T 12: 11,142,749 (GRCm39) probably benign Het
Kndc1 T A 7: 139,512,830 (GRCm39) L1527Q probably damaging Het
Lepr T G 4: 101,637,180 (GRCm39) S690A probably benign Het
Mapkap1 C A 2: 34,509,861 (GRCm39) H450Q probably damaging Het
Mdm1 A G 10: 117,994,445 (GRCm39) T485A probably benign Het
Megf10 T C 18: 57,410,760 (GRCm39) C690R probably damaging Het
Myo7a A G 7: 97,712,806 (GRCm39) M1723T probably benign Het
Nrip3 A T 7: 109,364,714 (GRCm39) C137* probably null Het
Or5w22 T A 2: 87,363,124 (GRCm39) I249N probably damaging Het
Pde4a T A 9: 21,122,297 (GRCm39) M731K probably benign Het
Pebp1 A G 5: 117,421,527 (GRCm39) L117P probably damaging Het
Phc2 T C 4: 128,598,995 (GRCm39) Y51H probably damaging Het
Ppp2r5b A G 19: 6,284,713 (GRCm39) F50S probably benign Het
Prpf4b A G 13: 35,083,825 (GRCm39) S865G probably benign Het
Ptpn5 C T 7: 46,738,354 (GRCm39) V243M probably benign Het
Rora T C 9: 69,271,841 (GRCm39) L273P possibly damaging Het
Rtp4 T A 16: 23,432,204 (GRCm39) S245R probably benign Het
Scgb2b20 C T 7: 33,063,985 (GRCm39) G95D probably benign Het
Sec24b A G 3: 129,788,040 (GRCm39) V820A probably benign Het
Sim2 A G 16: 93,895,168 (GRCm39) D62G possibly damaging Het
Slc17a4 A T 13: 24,084,497 (GRCm39) V429D probably benign Het
Sp2 T C 11: 96,852,799 (GRCm39) T42A probably damaging Het
Spata3 G A 1: 85,952,169 (GRCm39) R141Q unknown Het
Sptbn2 A T 19: 4,795,605 (GRCm39) E1658D probably benign Het
Tcaf1 T C 6: 42,655,473 (GRCm39) H501R probably benign Het
Tec G A 5: 72,931,178 (GRCm39) T262M possibly damaging Het
Timm9 A T 12: 71,172,305 (GRCm39) N22K possibly damaging Het
Tln1 C T 4: 43,542,701 (GRCm39) probably null Het
Tmbim4 A G 10: 120,053,529 (GRCm39) I109M probably benign Het
Tmc7 T C 7: 118,163,566 (GRCm39) K110E probably benign Het
Tmem107 C T 11: 68,963,399 (GRCm39) P136L probably benign Het
Ttc21b T C 2: 66,061,563 (GRCm39) probably null Het
Ubd A C 17: 37,506,335 (GRCm39) T74P probably damaging Het
Vps11 A G 9: 44,269,486 (GRCm39) V255A possibly damaging Het
Vsnl1 T C 12: 11,376,448 (GRCm39) T146A probably benign Het
Wdr38 G T 2: 38,889,984 (GRCm39) probably null Het
Yes1 T A 5: 32,841,969 (GRCm39) S498T possibly damaging Het
Zc3h13 G A 14: 75,569,323 (GRCm39) R1390H probably damaging Het
Zscan4b A G 7: 10,635,949 (GRCm39) V126A possibly damaging 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
R0402:Lrfn5 UTSW 12 61,886,803 (GRCm39) missense probably benign 0.22
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'- TCTGGTCAATAATCTGGCATCTG -3'
(R):5'- GCAACTTTACAGCACTGGGC -3'

Sequencing Primer
(F):5'- CTGGCATCTGGAACTATGTATGAC -3'
(R):5'- GCACTGGGCATTCTCTTCATGG -3'
Posted On 2019-06-07