Incidental Mutation 'R4724:Lrfn2'
ID 354739
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 041988-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4724 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 49239407-49404616 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49377462 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 181 (D181G)
Ref Sequence ENSEMBL: ENSMUSP00000047573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046254]
AlphaFold Q80TG9
Predicted Effect probably damaging
Transcript: ENSMUST00000046254
AA Change: D181G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047573
Gene: ENSMUSG00000040490
AA Change: D181G

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: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik C G 3: 89,960,848 (GRCm39) Q34E probably damaging Het
4933434E20Rik G T 3: 89,960,890 (GRCm39) V48F probably damaging Het
4933434E20Rik A T 3: 89,960,849 (GRCm39) Q34L probably damaging Het
Abra T C 15: 41,729,302 (GRCm39) D366G probably damaging Het
Acvr2a T C 2: 48,760,447 (GRCm39) S68P probably damaging Het
Adam28 T A 14: 68,864,326 (GRCm39) R492S probably damaging Het
Adamts1 T A 16: 85,599,393 (GRCm39) E69V probably benign Het
Adgra1 A T 7: 139,455,505 (GRCm39) M378L probably benign Het
Adgra2 T A 8: 27,588,850 (GRCm39) N101K possibly damaging Het
Adhfe1 T A 1: 9,646,475 (GRCm39) F449L probably damaging Het
Akap6 T A 12: 52,842,668 (GRCm39) S5R possibly damaging Het
Akap9 G A 5: 4,105,339 (GRCm39) R2883Q probably benign Het
Ank3 T A 10: 69,542,688 (GRCm39) I16N probably benign Het
Api5 A T 2: 94,253,816 (GRCm39) F296I possibly damaging Het
Ceacam14 G T 7: 17,547,975 (GRCm39) probably null Het
Cep295 C T 9: 15,242,128 (GRCm39) G1768S probably damaging Het
Cldn12 A G 5: 5,558,385 (GRCm39) F14S probably damaging Het
Cp C A 3: 20,026,811 (GRCm39) T413K probably benign Het
Ctdsp2 T G 10: 126,828,938 (GRCm39) V104G probably damaging Het
Ctrc T A 4: 141,573,607 (GRCm39) probably null Het
Dbt T C 3: 116,326,945 (GRCm39) I98T probably damaging Het
Dcaf10 G A 4: 45,372,769 (GRCm39) R394Q possibly damaging Het
Dctn1 T A 6: 83,166,920 (GRCm39) M257K possibly damaging Het
Depp1 T A 6: 116,629,096 (GRCm39) C146* probably null Het
Dlgap5 C T 14: 47,638,977 (GRCm39) probably null Het
Drd3 G T 16: 43,643,164 (GRCm39) E467* probably null Het
Exoc8 A G 8: 125,623,989 (GRCm39) V126A probably benign Het
Fam185a T A 5: 21,660,785 (GRCm39) S267T probably damaging Het
Fhod1 T C 8: 106,064,493 (GRCm39) probably benign Het
Fn1 T C 1: 71,687,307 (GRCm39) probably null Het
Gadl1 A T 9: 115,783,685 (GRCm39) T214S possibly damaging Het
Gem G T 4: 11,706,074 (GRCm39) R54L probably damaging Het
Ghr A G 15: 3,355,422 (GRCm39) V287A probably benign Het
Gm3642 G A 14: 18,212,879 (GRCm39) T215I probably benign Het
Grip1 T A 10: 119,874,588 (GRCm39) I732K probably benign Het
Gtpbp2 A T 17: 46,478,147 (GRCm39) probably null Het
Heatr6 C T 11: 83,670,374 (GRCm39) R976* probably null Het
Hipk2 T A 6: 38,675,327 (GRCm39) T1084S probably benign Het
Hmcn1 T C 1: 150,570,584 (GRCm39) probably null Het
Hspg2 T A 4: 137,249,438 (GRCm39) M1328K probably damaging Het
Ifna4 C A 4: 88,760,519 (GRCm39) T141K probably benign Het
Ighv1-64 A G 12: 115,471,466 (GRCm39) V17A probably benign Het
Iqgap2 G T 13: 95,772,005 (GRCm39) N1391K possibly damaging Het
Irf7 A T 7: 140,844,648 (GRCm39) L148Q possibly damaging Het
Kat6b G A 14: 21,711,030 (GRCm39) R768K probably benign Het
Lepr G A 4: 101,622,562 (GRCm39) W447* probably null Het
Letmd1 A G 15: 100,367,619 (GRCm39) Y59C probably damaging Het
Lingo4 A T 3: 94,310,183 (GRCm39) K374* probably null Het
Loxl4 G T 19: 42,596,785 (GRCm39) D62E probably benign Het
Lrrc71 A T 3: 87,646,481 (GRCm39) F526L probably damaging Het
Ltbp1 A T 17: 75,620,003 (GRCm39) M711L probably damaging Het
Mcm7 A T 5: 138,167,387 (GRCm39) D78E probably damaging Het
Mdh1 T C 11: 21,512,957 (GRCm39) N136D probably damaging Het
Meltf T A 16: 31,711,323 (GRCm39) N515K probably benign Het
Mis18bp1 T A 12: 65,205,513 (GRCm39) T220S probably benign Het
Mtss1 C T 15: 58,953,367 (GRCm39) V4M probably damaging Het
Nacc2 A T 2: 25,980,185 (GRCm39) F84I probably damaging Het
Nedd9 A G 13: 41,470,073 (GRCm39) V360A possibly damaging Het
Nek11 T A 9: 105,270,169 (GRCm39) I18F possibly damaging Het
Nkd2 C T 13: 73,995,124 (GRCm39) V13M probably damaging Het
Nkx6-3 A G 8: 23,646,285 (GRCm39) I152V probably damaging Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Oprm1 A T 10: 6,708,656 (GRCm39) R16* probably null Het
Or1e16 A T 11: 73,285,981 (GRCm39) I289N probably damaging Het
Or51b4 A G 7: 103,530,856 (GRCm39) V198A probably benign Het
Or5an1 T C 19: 12,260,460 (GRCm39) L16P probably damaging Het
Or5p69 T A 7: 107,967,205 (GRCm39) F169L probably benign Het
Or6d15 T C 6: 116,559,898 (GRCm39) N3S probably damaging Het
Or7a36 A G 10: 78,820,356 (GRCm39) H244R probably damaging Het
Ostf1 G A 19: 18,571,231 (GRCm39) P62L probably damaging Het
Pcdha2 A T 18: 37,073,568 (GRCm39) T400S possibly damaging Het
Pcdha5 A T 18: 37,094,549 (GRCm39) T353S possibly damaging Het
Pelo A G 13: 115,225,271 (GRCm39) F318S probably damaging Het
Polr2f T C 15: 79,030,269 (GRCm39) V36A probably benign Het
Ppan G A 9: 20,799,806 (GRCm39) R41H probably benign Het
Ppp1r21 C T 17: 88,863,019 (GRCm39) R253* probably null Het
Prf1 T A 10: 61,139,487 (GRCm39) W482R probably damaging Het
Ralgapa2 T C 2: 146,187,453 (GRCm39) T1397A possibly damaging Het
Rev3l T A 10: 39,722,802 (GRCm39) Y2598* probably null Het
Scaf11 G T 15: 96,312,729 (GRCm39) D1437E probably benign Het
Sec23a C T 12: 59,025,292 (GRCm39) G510R probably damaging Het
Sel1l2 A G 2: 140,082,847 (GRCm39) M597T probably damaging Het
Slc11a2 A T 15: 100,304,219 (GRCm39) S160T possibly damaging Het
Slc18a1 A T 8: 69,526,301 (GRCm39) L129* probably null Het
Smg8 A C 11: 86,977,047 (GRCm39) L178R probably benign Het
Sp4 T C 12: 118,225,544 (GRCm39) T607A probably benign Het
Ssbp2 A G 13: 91,836,933 (GRCm39) D266G possibly damaging Het
Sstr3 A T 15: 78,423,897 (GRCm39) Y283* probably null Het
Stk32b C T 5: 37,612,278 (GRCm39) probably null Het
Svep1 T C 4: 58,070,752 (GRCm39) T2345A possibly damaging Het
Synpo2 A G 3: 122,907,940 (GRCm39) S459P probably damaging Het
Sytl2 A G 7: 89,998,000 (GRCm39) M1V probably null Het
Tas2r102 T A 6: 132,739,520 (GRCm39) W143R probably damaging Het
Thy1 T C 9: 43,958,645 (GRCm39) V129A probably damaging Het
Tlr2 A T 3: 83,745,492 (GRCm39) I197N probably damaging Het
Tmem101 A G 11: 102,044,269 (GRCm39) I206T probably benign Het
Tmem108 A G 9: 103,376,688 (GRCm39) S254P possibly damaging Het
Tmem198b T C 10: 128,637,350 (GRCm39) Q263R probably damaging Het
Vangl1 T C 3: 102,091,870 (GRCm39) D72G probably damaging Het
Vmn1r4 T A 6: 56,934,349 (GRCm39) D284E probably benign Het
Vmn2r31 G A 7: 7,387,757 (GRCm39) L605F possibly damaging Het
Zfand4 T C 6: 116,250,780 (GRCm39) V70A probably damaging Het
Zfp54 A G 17: 21,653,665 (GRCm39) E53G probably damaging Het
Zfp541 A T 7: 15,815,612 (GRCm39) I805F probably damaging Het
Zfp976 T C 7: 42,262,457 (GRCm39) H460R possibly damaging 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
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
R7852:Lrfn2 UTSW 17 49,376,972 (GRCm39) missense possibly damaging 0.69
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'- TCTGGTCAACCTGCAACAC -3'
(R):5'- CAGGTCTCCAGGTCATCATC -3'

Sequencing Primer
(F):5'- GGTCAACCTGCAACACCTTATTGTG -3'
(R):5'- TCACAATTGCAGTGCAGCG -3'
Posted On 2015-10-21