Incidental Mutation 'R0083:Elfn2'
ID 19777
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 038370-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R0083 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 78551531-78602971 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 78557614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 311 (L311Q)
Ref Sequence ENSEMBL: ENSMUSP00000155111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088592] [ENSMUST00000229441]
AlphaFold Q68FM6
Predicted Effect probably damaging
Transcript: ENSMUST00000088592
AA Change: L311Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085960
Gene: ENSMUSG00000043460
AA Change: L311Q

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 damaging
Transcript: ENSMUST00000229441
AA Change: L311Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229550
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230183
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230478
Meta Mutation Damage Score 0.7485 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.8%
  • 10x: 94.0%
  • 20x: 83.1%
Validation Efficiency 88% (117/133)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A T 16: 4,667,406 (GRCm39) I266F unknown Het
Adam39 T G 8: 41,278,115 (GRCm39) F169V probably damaging Het
Adcy2 A T 13: 68,800,054 (GRCm39) V858E probably damaging Het
Adgrv1 A G 13: 81,726,523 (GRCm39) probably benign Het
Ankrd26 G T 6: 118,500,215 (GRCm39) H1085Q probably benign Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Atg4c C T 4: 99,109,677 (GRCm39) H215Y possibly damaging Het
Atp6v0d2 G A 4: 19,880,001 (GRCm39) probably benign Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
C1qtnf3 G A 15: 10,975,718 (GRCm39) V175I possibly damaging Het
Cacna1c A G 6: 118,602,484 (GRCm39) M1293T probably damaging Het
Ccdc88a T A 11: 29,453,463 (GRCm39) S337T probably damaging Het
Cntn4 A G 6: 106,502,330 (GRCm39) I362M possibly damaging Het
Col22a1 A T 15: 71,762,346 (GRCm39) D104E possibly damaging Het
Col4a4 T C 1: 82,484,832 (GRCm39) probably null Het
Cul7 C A 17: 46,966,482 (GRCm39) R304S probably benign Het
Esrrb T C 12: 86,561,226 (GRCm39) L320P probably damaging Het
Fads2b A T 2: 85,324,476 (GRCm39) F283L possibly damaging Het
Fbxw10 A G 11: 62,767,887 (GRCm39) T903A probably benign Het
Fkbp4 G A 6: 128,409,370 (GRCm39) probably benign Het
Gatad2b T A 3: 90,265,250 (GRCm39) Y576N probably damaging Het
Greb1 T C 12: 16,746,452 (GRCm39) M1273V probably benign Het
Helq C A 5: 100,916,234 (GRCm39) E913* probably null Het
Inpp4b C A 8: 82,468,091 (GRCm39) A18E possibly damaging Het
Ints13 A G 6: 146,452,162 (GRCm39) Y686H probably benign Het
Itgb7 C T 15: 102,131,917 (GRCm39) R222H probably damaging Het
Krt81 A G 15: 101,361,346 (GRCm39) I78T probably damaging Het
Lonp2 G A 8: 87,442,983 (GRCm39) V815I probably benign Het
Mctp2 G T 7: 71,878,264 (GRCm39) F271L possibly damaging Het
Mrto4 C T 4: 139,075,279 (GRCm39) V175I possibly damaging Het
Myh14 A G 7: 44,283,943 (GRCm39) V654A probably damaging Het
Neu2 A G 1: 87,524,984 (GRCm39) Y323C probably damaging Het
Nt5dc1 A C 10: 34,279,760 (GRCm39) M94R probably damaging Het
Nup210l A G 3: 90,096,882 (GRCm39) T1364A probably damaging Het
Obscn T C 11: 58,913,200 (GRCm39) D6939G probably damaging Het
Or10q1b A T 19: 13,683,042 (GRCm39) T284S probably damaging Het
Pias4 A G 10: 81,000,000 (GRCm39) S18P probably damaging Het
Plcl1 A G 1: 55,737,098 (GRCm39) Y813C possibly damaging Het
Plk5 G A 10: 80,192,496 (GRCm39) G34S possibly damaging Het
Ptprj A T 2: 90,300,121 (GRCm39) probably null Het
Rps6ka2 G A 17: 7,563,442 (GRCm39) D617N probably benign Het
Sap130 C A 18: 31,799,382 (GRCm39) probably benign Het
Sap130 C T 18: 31,844,694 (GRCm39) P902S probably damaging Het
Sec11a A G 7: 80,584,787 (GRCm39) V50A probably damaging Het
Sel1l3 C T 5: 53,295,244 (GRCm39) A786T possibly damaging Het
Shroom1 T C 11: 53,357,764 (GRCm39) S772P possibly damaging Het
Slc15a2 T C 16: 36,602,645 (GRCm39) Y72C probably damaging Het
Slc26a6 T C 9: 108,736,312 (GRCm39) probably null Het
Slc30a5 G T 13: 100,939,908 (GRCm39) A669E probably damaging Het
Sppl2c G A 11: 104,077,358 (GRCm39) V53I probably benign Het
Sstr1 T A 12: 58,260,528 (GRCm39) C384S possibly damaging Het
Sulf1 A G 1: 12,887,641 (GRCm39) M272V probably damaging Het
Tm6sf1 G A 7: 81,515,093 (GRCm39) probably null Het
Tmem94 A G 11: 115,687,550 (GRCm39) probably benign Het
Topaz1 A T 9: 122,604,674 (GRCm39) I1093L probably benign Het
Ttll4 G T 1: 74,718,928 (GRCm39) V260L probably benign Het
Vmn2r26 A T 6: 124,030,940 (GRCm39) probably null Het
Vmn2r75 G A 7: 85,814,866 (GRCm39) A209V probably benign Het
Zfand3 A G 17: 30,354,372 (GRCm39) E63G probably damaging Het
Zfp939 A T 7: 39,123,534 (GRCm39) noncoding transcript 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
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
R1155:Elfn2 UTSW 15 78,557,344 (GRCm39) missense probably benign 0.03
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 PCR Primer
(F):5'- AGCGCCATAGCGCATCTCTAAG -3'
(R):5'- AGCCTCAATGCCATCACTGTCCTG -3'

Sequencing Primer
(F):5'- TTCCGCAGGCAGTAGTAGAC -3'
(R):5'- AACGGCTCAATGCCTGC -3'
Posted On 2013-04-11