Incidental Mutation 'R6297:Lrfn5'
ID 508851
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 044464-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R6297 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 61569936-61905128 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 61890348 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 546 (I546F)
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: I546F

PolyPhen 2 Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000051546
Gene: ENSMUSG00000035653
AA Change: I546F

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: I546F

PolyPhen 2 Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113123
Gene: ENSMUSG00000035653
AA Change: I546F

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 0.0739 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 98% (45/46)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,926,179 (GRCm39) V1205A probably benign Het
Adgra3 G A 5: 50,118,189 (GRCm39) P1120S probably benign Het
Ate1 A G 7: 130,105,570 (GRCm39) V316A probably damaging Het
Bpifa1 A G 2: 153,986,180 (GRCm39) I102V probably benign Het
Catsperb A G 12: 101,557,655 (GRCm39) probably null Het
Ccdc47 T C 11: 106,094,427 (GRCm39) Y324C probably damaging Het
Cdh22 T C 2: 164,985,564 (GRCm39) K341E possibly damaging Het
Cenpb A G 2: 131,020,289 (GRCm39) probably benign Het
Dgkd A G 1: 87,853,866 (GRCm39) I570V possibly damaging Het
Dhx32 A T 7: 133,344,529 (GRCm39) Y27N probably damaging Het
Dnah10 A G 5: 124,852,144 (GRCm39) D1824G possibly damaging Het
Fbxo8 T A 8: 57,022,323 (GRCm39) C112S probably damaging Het
Fndc3a T C 14: 72,800,980 (GRCm39) D590G probably damaging Het
Gm19965 T A 1: 116,750,410 (GRCm39) I697N possibly damaging Het
Greb1l G A 18: 10,469,494 (GRCm39) D170N probably damaging Het
Haus5 C T 7: 30,358,401 (GRCm39) W298* probably null Het
Igfn1 A T 1: 135,892,399 (GRCm39) probably null Het
Ighg2b T C 12: 113,270,512 (GRCm39) E206G unknown Het
Ints15 A T 5: 143,293,787 (GRCm39) L230Q possibly damaging Het
Lman2 T C 13: 55,496,244 (GRCm39) N267S probably damaging Het
Lrrc4c T C 2: 97,459,964 (GRCm39) S197P probably damaging Het
Mbtd1 C T 11: 93,823,058 (GRCm39) H493Y possibly damaging Het
Mdga2 A G 12: 66,553,027 (GRCm39) Y793H probably damaging Het
Mdn1 C T 4: 32,730,054 (GRCm39) R2799* probably null Het
Mup13 T A 4: 61,181,634 (GRCm39) I148F probably benign Het
Or2aj5 A C 16: 19,424,680 (GRCm39) V246G possibly damaging Het
Or5m10 A G 2: 85,717,159 (GRCm39) N5S probably benign Het
Or8g53 A T 9: 39,683,522 (GRCm39) D191E possibly damaging Het
Pdgfra A G 5: 75,334,135 (GRCm39) K403E possibly damaging Het
Pigz A T 16: 31,763,755 (GRCm39) Y271F probably damaging Het
Plekhg4 T C 8: 106,104,472 (GRCm39) L517P probably damaging Het
Rnf20 T C 4: 49,642,132 (GRCm39) L232P probably damaging Het
Rpa3 C A 6: 8,256,767 (GRCm39) G71* probably null Het
Rsf1 GCG GCGACGGCGTCG 7: 97,229,114 (GRCm39) probably benign Het
Rubcnl A G 14: 75,287,584 (GRCm39) T623A probably benign Het
Sltm A G 9: 70,488,641 (GRCm39) D597G probably damaging Het
Stpg2 T C 3: 139,407,432 (GRCm39) V528A possibly damaging Het
Supt6 C T 11: 78,116,885 (GRCm39) R589Q possibly damaging Het
Tas1r2 T A 4: 139,389,361 (GRCm39) M419K possibly damaging Het
Txndc16 T C 14: 45,389,243 (GRCm39) T486A probably benign Het
Vamp9 A G 5: 100,089,092 (GRCm39) Y119C probably damaging Het
Vmn1r185 A G 7: 26,311,046 (GRCm39) V153A probably benign Het
Vmn2r48 T C 7: 9,668,807 (GRCm39) N548D probably damaging Het
Washc5 A G 15: 59,215,895 (GRCm39) I378T possibly damaging Het
Wdr37 A G 13: 8,892,764 (GRCm39) probably null Het
Xrn2 G A 2: 146,868,490 (GRCm39) R181H probably damaging Het
Ylpm1 C G 12: 85,062,051 (GRCm39) P651A unknown 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
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
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'- TTCTGGTCAATAATCTGGCATCTG -3'
(R):5'- GCAACTTTACAGCACTGGGC -3'

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