Incidental Mutation 'R1155:Elfn2'
ID 101682
Institutional Source Beutler Lab
Gene Symbol Elfn2
Ensembl Gene ENSMUSG00000043460
Gene Name leucine rich repeat and fibronectin type III, extracellular 2
Synonyms Lrrc62
MMRRC Submission 039228-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R1155 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 78551531-78602971 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78557344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 401 (I401T)
Ref Sequence ENSEMBL: ENSMUSP00000155111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088592] [ENSMUST00000229441]
AlphaFold Q68FM6
Predicted Effect probably benign
Transcript: ENSMUST00000088592
AA Change: I401T

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000085960
Gene: ENSMUSG00000043460
AA Change: I401T

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
LRR 78 101 9.96e-1 SMART
LRR 103 125 5.56e0 SMART
LRR 126 149 6.96e0 SMART
LRR 150 173 1.66e1 SMART
LRRCT 185 240 9.74e-2 SMART
FN3 293 371 4.56e0 SMART
transmembrane domain 397 419 N/A INTRINSIC
low complexity region 583 598 N/A INTRINSIC
low complexity region 633 647 N/A INTRINSIC
low complexity region 686 696 N/A INTRINSIC
low complexity region 754 768 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000229441
AA Change: I401T

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229550
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230183
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230478
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T C 11: 23,467,270 (GRCm39) E121G possibly damaging Het
Abtb3 A T 10: 85,465,155 (GRCm39) H665L probably damaging Het
Adgrg1 G A 8: 95,733,468 (GRCm39) V307I possibly damaging Het
Cilp A G 9: 65,176,869 (GRCm39) T42A probably benign Het
Col6a3 T A 1: 90,722,047 (GRCm39) K1493M probably null Het
Col6a6 A G 9: 105,659,289 (GRCm39) V552A possibly damaging Het
Cradd T C 10: 95,158,586 (GRCm39) T54A probably benign Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Hoxc6 A G 15: 102,919,279 (GRCm39) I172V probably damaging Het
Knl1 T C 2: 118,901,635 (GRCm39) L1112P possibly damaging Het
Lipo4 T A 19: 33,480,595 (GRCm39) I258F probably benign Het
Morf4l1 A G 9: 89,976,557 (GRCm39) V257A probably benign Het
Or51a8 A T 7: 102,549,819 (GRCm39) M82L probably benign Het
Rnpepl1 T A 1: 92,844,609 (GRCm39) M367K probably damaging Het
Robo2 A G 16: 73,831,996 (GRCm39) L228P probably damaging Het
Samd9l T A 6: 3,376,939 (GRCm39) E107D probably benign Het
Shc1 A G 3: 89,332,126 (GRCm39) I194V probably benign Het
Slc25a46 A G 18: 31,716,668 (GRCm39) I278T probably benign Het
Tmem178 T A 17: 81,308,429 (GRCm39) C275S possibly damaging Het
Tpsg1 A T 17: 25,592,768 (GRCm39) Q40L possibly damaging Het
Trank1 A G 9: 111,196,038 (GRCm39) E1354G possibly damaging Het
Vit T C 17: 78,873,456 (GRCm39) I44T probably damaging Het
Vstm5 T C 9: 15,168,849 (GRCm39) S138P probably damaging Het
Other mutations in Elfn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01353:Elfn2 APN 15 78,556,618 (GRCm39) missense possibly damaging 0.88
IGL02165:Elfn2 APN 15 78,557,618 (GRCm39) missense probably benign 0.04
IGL02951:Elfn2 APN 15 78,556,082 (GRCm39) missense probably damaging 1.00
IGL03402:Elfn2 APN 15 78,557,670 (GRCm39) missense possibly damaging 0.50
R0083:Elfn2 UTSW 15 78,557,614 (GRCm39) missense probably damaging 1.00
R0441:Elfn2 UTSW 15 78,557,795 (GRCm39) missense probably benign 0.09
R0570:Elfn2 UTSW 15 78,557,434 (GRCm39) missense probably damaging 1.00
R1670:Elfn2 UTSW 15 78,556,568 (GRCm39) missense probably benign 0.05
R2033:Elfn2 UTSW 15 78,556,096 (GRCm39) missense probably damaging 1.00
R2138:Elfn2 UTSW 15 78,558,238 (GRCm39) missense probably benign 0.05
R2167:Elfn2 UTSW 15 78,556,646 (GRCm39) missense probably benign 0.09
R2226:Elfn2 UTSW 15 78,558,443 (GRCm39) missense probably damaging 1.00
R2497:Elfn2 UTSW 15 78,558,464 (GRCm39) missense probably damaging 1.00
R5175:Elfn2 UTSW 15 78,558,073 (GRCm39) missense probably damaging 1.00
R5215:Elfn2 UTSW 15 78,558,401 (GRCm39) missense probably damaging 1.00
R5588:Elfn2 UTSW 15 78,558,076 (GRCm39) missense probably damaging 1.00
R7291:Elfn2 UTSW 15 78,557,183 (GRCm39) missense probably benign 0.21
R7760:Elfn2 UTSW 15 78,558,041 (GRCm39) missense probably benign 0.00
R7893:Elfn2 UTSW 15 78,557,368 (GRCm39) missense probably damaging 1.00
R8018:Elfn2 UTSW 15 78,557,968 (GRCm39) missense probably damaging 1.00
R8084:Elfn2 UTSW 15 78,556,660 (GRCm39) missense probably damaging 0.98
R8112:Elfn2 UTSW 15 78,557,635 (GRCm39) missense probably damaging 0.97
R8501:Elfn2 UTSW 15 78,558,500 (GRCm39) missense probably benign
R8717:Elfn2 UTSW 15 78,556,561 (GRCm39) missense probably benign 0.01
R8961:Elfn2 UTSW 15 78,557,378 (GRCm39) missense probably benign 0.00
R9001:Elfn2 UTSW 15 78,557,438 (GRCm39) missense probably benign 0.34
Predicted Primers
Posted On 2014-01-15