Incidental Mutation 'R7852:Lrfn2'
ID 607026
Institutional Source Beutler Lab
Gene Symbol Lrfn2
Ensembl Gene ENSMUSG00000040490
Gene Name leucine rich repeat and fibronectin type III domain containing 2
Synonyms 5730420O05Rik, SALM1
MMRRC Submission 045905-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7852 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 49239407-49404616 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 49376972 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 18 (V18I)
Ref Sequence ENSEMBL: ENSMUSP00000047573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046254]
AlphaFold Q80TG9
Predicted Effect possibly damaging
Transcript: ENSMUST00000046254
AA Change: V18I

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000047573
Gene: ENSMUSG00000040490
AA Change: V18I

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
LRRNT 20 56 2.9e0 SMART
LRR 75 98 7.36e0 SMART
LRR_TYP 99 122 1.1e-2 SMART
LRR_TYP 123 146 2.2e-2 SMART
LRR 148 171 4.45e1 SMART
LRR_TYP 172 195 1.56e-2 SMART
LRR 196 220 1.06e1 SMART
LRRCT 242 287 5.53e-4 SMART
IGc2 301 366 8e-12 SMART
low complexity region 401 415 N/A INTRINSIC
FN3 420 500 1.52e-1 SMART
transmembrane domain 533 555 N/A INTRINSIC
low complexity region 613 654 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit small spleens, small or no thymi, impaired T cell development, and decreased T cell proliferation in response to mitogen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933415A04Rik GTGT GTGTTTGT 11: 43,478,253 (GRCm39) probably null Het
Aco1 A G 4: 40,180,263 (GRCm39) D388G probably benign Het
Adgrl1 T G 8: 84,662,187 (GRCm39) L1016R probably damaging Het
Agmo C T 12: 37,292,051 (GRCm39) P4L possibly damaging Het
Agrn A T 4: 156,253,514 (GRCm39) H1792Q probably benign Het
Arhgef40 C T 14: 52,229,254 (GRCm39) L615F unknown Het
Atp6v1b1 A T 6: 83,729,452 (GRCm39) M121L possibly damaging Het
Cd38 C A 5: 44,058,790 (GRCm39) L135M probably damaging Het
Cep152 A T 2: 125,432,033 (GRCm39) N622K possibly damaging Het
Cfhr1 A C 1: 139,484,165 (GRCm39) V117G probably damaging Het
Dnajb1 T A 8: 84,336,834 (GRCm39) D201E probably benign Het
Dpysl2 T C 14: 67,100,092 (GRCm39) N48S probably benign Het
Dsc2 A G 18: 20,179,342 (GRCm39) I242T possibly damaging Het
Eif1ad10 A C 12: 88,216,588 (GRCm39) Y95D probably damaging Het
Eif1ad3 G A 12: 87,843,742 (GRCm39) V130M unknown Het
Fam193a C A 5: 34,568,161 (GRCm39) D153E probably benign Het
Flnc G T 6: 29,440,897 (GRCm39) D332Y probably damaging Het
Fstl5 A G 3: 76,615,275 (GRCm39) I779V probably benign Het
Gm29394 T C 15: 57,912,172 (GRCm39) I11V unknown Het
Gm36864 ATCAGAAGTTTC ATC 7: 43,886,361 (GRCm39) probably benign Het
Gnpnat1 G A 14: 45,622,110 (GRCm39) P28S probably damaging Het
Grk5 T C 19: 61,069,383 (GRCm39) probably null Het
Gys2 A T 6: 142,376,059 (GRCm39) F534L probably damaging Het
Igdcc4 G A 9: 65,027,540 (GRCm39) V201I probably benign Het
Khdc4 T A 3: 88,604,043 (GRCm39) S287T probably benign Het
Kif12 G C 4: 63,086,226 (GRCm39) P374A probably benign Het
Krt16 A T 11: 100,137,592 (GRCm39) I371N probably damaging Het
Masp2 G A 4: 148,687,189 (GRCm39) E24K probably benign Het
Mdga2 T C 12: 66,517,724 (GRCm39) N37D possibly damaging Het
Med12l T A 3: 59,155,332 (GRCm39) F1171I probably damaging Het
Med22 A T 2: 26,800,376 (GRCm39) Y18N probably damaging Het
Mfsd4b1 T C 10: 39,879,411 (GRCm39) N162S probably benign Het
Micu2 A T 14: 58,169,710 (GRCm39) N213K probably benign Het
Mpc1 C T 17: 8,515,740 (GRCm39) T86I probably damaging Het
Mto1 G T 9: 78,356,820 (GRCm39) V112L possibly damaging Het
Napepld C T 5: 21,888,171 (GRCm39) V93I probably benign Het
Nkx2-2 A T 2: 147,026,189 (GRCm39) M183K probably damaging Het
Nlrp10 A G 7: 108,524,281 (GRCm39) S400P probably damaging Het
Nynrin T C 14: 56,108,886 (GRCm39) L1331P probably damaging Het
Ofcc1 T A 13: 40,333,915 (GRCm39) D392V probably damaging Het
Or10q12 A G 19: 13,745,874 (GRCm39) H56R probably benign Het
Or11a4 T C 17: 37,536,163 (GRCm39) V49A probably benign Het
Or2ag16 A T 7: 106,351,845 (GRCm39) M250K probably damaging Het
Or6c38 T A 10: 128,929,385 (GRCm39) I153F probably benign Het
Patl2 C T 2: 122,009,590 (GRCm39) probably benign Het
Pde8b T G 13: 95,244,205 (GRCm39) D78A probably damaging Het
Pgls T A 8: 72,047,847 (GRCm39) probably null Het
Pik3c2a A G 7: 116,016,693 (GRCm39) S355P probably benign Het
Pole G A 5: 110,454,695 (GRCm39) R976Q probably damaging Het
Ppip5k2 A G 1: 97,668,896 (GRCm39) L511S probably damaging Het
Prcp A T 7: 92,577,900 (GRCm39) N390Y probably benign Het
Rpgrip1 T A 14: 52,383,337 (GRCm39) N752K probably benign Het
Rsl1d1 A G 16: 11,021,098 (GRCm39) S8P probably benign Het
S100a1 C A 3: 90,419,392 (GRCm39) A18S probably benign Het
Slc25a13 A G 6: 6,152,461 (GRCm39) F92S probably damaging Het
Slc35f3 T C 8: 127,121,219 (GRCm39) I360T probably damaging Het
Slc35f6 T C 5: 30,814,159 (GRCm39) Y202H possibly damaging Het
Sox6 A T 7: 115,400,839 (GRCm39) M1K probably null Het
Stx8 G A 11: 67,860,611 (GRCm39) D11N probably damaging Het
Vmn2r130 A G 17: 23,282,788 (GRCm39) N156S probably benign Het
Vmn2r52 T C 7: 9,892,895 (GRCm39) Y748C probably damaging Het
Vmn2r78 T A 7: 86,569,378 (GRCm39) Y90* probably null Het
Zc3h4 A G 7: 16,156,392 (GRCm39) S303G unknown Het
Other mutations in Lrfn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01612:Lrfn2 APN 17 49,377,425 (GRCm39) missense possibly damaging 0.81
IGL01989:Lrfn2 APN 17 49,378,113 (GRCm39) missense probably damaging 1.00
IGL03324:Lrfn2 APN 17 49,377,915 (GRCm39) missense probably damaging 1.00
IGL02991:Lrfn2 UTSW 17 49,377,732 (GRCm39) missense probably damaging 1.00
R0306:Lrfn2 UTSW 17 49,403,283 (GRCm39) missense probably damaging 0.99
R0539:Lrfn2 UTSW 17 49,378,072 (GRCm39) missense probably damaging 1.00
R1245:Lrfn2 UTSW 17 49,403,277 (GRCm39) critical splice acceptor site probably null
R1414:Lrfn2 UTSW 17 49,377,857 (GRCm39) missense probably benign 0.01
R1437:Lrfn2 UTSW 17 49,378,253 (GRCm39) missense probably damaging 0.97
R1670:Lrfn2 UTSW 17 49,403,605 (GRCm39) missense probably benign 0.01
R2358:Lrfn2 UTSW 17 49,378,188 (GRCm39) missense possibly damaging 0.92
R3711:Lrfn2 UTSW 17 49,378,188 (GRCm39) missense possibly damaging 0.92
R3712:Lrfn2 UTSW 17 49,378,188 (GRCm39) missense possibly damaging 0.92
R4521:Lrfn2 UTSW 17 49,376,922 (GRCm39) start codon destroyed probably null 0.02
R4532:Lrfn2 UTSW 17 49,377,564 (GRCm39) missense probably damaging 1.00
R4724:Lrfn2 UTSW 17 49,377,462 (GRCm39) missense probably damaging 1.00
R5062:Lrfn2 UTSW 17 49,377,528 (GRCm39) missense probably damaging 1.00
R5066:Lrfn2 UTSW 17 49,403,448 (GRCm39) missense probably damaging 1.00
R5348:Lrfn2 UTSW 17 49,403,718 (GRCm39) missense probably benign
R5673:Lrfn2 UTSW 17 49,403,625 (GRCm39) missense probably benign 0.02
R5900:Lrfn2 UTSW 17 49,377,291 (GRCm39) missense possibly damaging 0.82
R6014:Lrfn2 UTSW 17 49,376,934 (GRCm39) missense possibly damaging 0.96
R6087:Lrfn2 UTSW 17 49,378,154 (GRCm39) missense probably benign
R6224:Lrfn2 UTSW 17 49,403,379 (GRCm39) missense probably damaging 1.00
R6229:Lrfn2 UTSW 17 49,404,160 (GRCm39) missense possibly damaging 0.88
R6342:Lrfn2 UTSW 17 49,404,028 (GRCm39) missense probably benign 0.27
R6408:Lrfn2 UTSW 17 49,377,654 (GRCm39) missense probably damaging 1.00
R7026:Lrfn2 UTSW 17 49,404,005 (GRCm39) missense probably benign 0.00
R7505:Lrfn2 UTSW 17 49,403,479 (GRCm39) missense probably benign 0.14
R7918:Lrfn2 UTSW 17 49,378,212 (GRCm39) missense probably damaging 0.99
R8375:Lrfn2 UTSW 17 49,403,851 (GRCm39) missense possibly damaging 0.73
R8733:Lrfn2 UTSW 17 49,403,824 (GRCm39) missense probably damaging 0.96
R8828:Lrfn2 UTSW 17 49,404,132 (GRCm39) missense probably damaging 1.00
R8872:Lrfn2 UTSW 17 49,378,277 (GRCm39) nonsense probably null
R8892:Lrfn2 UTSW 17 49,377,376 (GRCm39) missense probably damaging 1.00
R9135:Lrfn2 UTSW 17 49,376,976 (GRCm39) missense possibly damaging 0.95
R9358:Lrfn2 UTSW 17 49,403,530 (GRCm39) missense probably damaging 0.99
R9661:Lrfn2 UTSW 17 49,403,650 (GRCm39) missense probably benign
Z1177:Lrfn2 UTSW 17 49,403,743 (GRCm39) missense probably damaging 0.99
Z1177:Lrfn2 UTSW 17 49,377,123 (GRCm39) missense probably benign 0.03
Z1177:Lrfn2 UTSW 17 49,377,040 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- AGCGCTTAACCTGGGCATAG -3'
(R):5'- TGGACAAGGTCAGATCCACC -3'

Sequencing Primer
(F):5'- GGCATAGCCTGTCTCTGTTG -3'
(R):5'- AGCCCTGTCATGTTGGCAAAG -3'
Posted On 2019-12-20