Incidental Mutation 'R5588:Elfn2'
ID438915
Institutional Source Beutler Lab
Gene Symbol Elfn2
Ensembl Gene ENSMUSG00000043460
Gene Nameleucine rich repeat and fibronectin type III, extracellular 2
SynonymsLrrc62
MMRRC Submission 043268-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #R5588 (G1)
Quality Score181
Status Not validated
Chromosome15
Chromosomal Location78667331-78718771 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 78673876 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 157 (D157G)
Ref Sequence ENSEMBL: ENSMUSP00000155111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088592] [ENSMUST00000229441]
Predicted Effect probably damaging
Transcript: ENSMUST00000088592
AA Change: D157G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085960
Gene: ENSMUSG00000043460
AA Change: D157G

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: D157G

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921501E09Rik G A 17: 33,066,275 Q518* probably null Het
4930407I10Rik C A 15: 82,065,216 Q1105K possibly damaging Het
A430078G23Rik T A 8: 3,388,878 probably benign Het
Afg3l2 A T 18: 67,440,207 V175D possibly damaging Het
Aldh1a2 G A 9: 71,283,450 R325H probably damaging Het
Atp8a1 A G 5: 67,814,684 L43P probably damaging Het
Bdh1 T C 16: 31,438,119 probably null Het
Ccdc85c T C 12: 108,211,534 Y320C probably damaging Het
Cobl A T 11: 12,343,886 L290* probably null Het
Cyp2c66 A G 19: 39,163,414 D191G possibly damaging Het
Dhx34 T C 7: 16,198,900 H1038R probably damaging Het
Eea1 T C 10: 96,023,910 V686A probably benign Het
Eif2b4 A T 5: 31,192,173 C101* probably null Het
Eif4a3 A C 11: 119,296,126 S84A probably benign Het
Fam198a C T 9: 121,965,181 Q134* probably null Het
Fat2 T A 11: 55,282,277 I2537F probably damaging Het
Fbxo38 A G 18: 62,526,177 F350L probably damaging Het
Fgd3 A T 13: 49,287,310 L215Q probably damaging Het
Fhdc1 A G 3: 84,465,476 V73A possibly damaging Het
Gapvd1 T A 2: 34,709,154 T690S probably damaging Het
Gm14418 A T 2: 177,387,272 I310K probably benign Het
Gm5141 A T 13: 62,773,770 N528K probably benign Het
Gsap A C 5: 21,251,149 E417A probably damaging Het
Kcnab1 A C 3: 65,376,555 D398A possibly damaging Het
Kif5b T G 18: 6,225,787 N160T probably benign Het
Lilr4b G A 10: 51,481,326 R86Q probably benign Het
Lmo7 T C 14: 101,896,590 probably null Het
Mlph T C 1: 90,931,599 S219P possibly damaging Het
Ncapg2 T C 12: 116,413,077 I95T possibly damaging Het
Nedd9 A T 13: 41,315,961 I572N possibly damaging Het
Nup155 G A 15: 8,119,253 probably null Het
Olfml2a T C 2: 38,960,035 S588P probably damaging Het
Olfr1240 T C 2: 89,439,416 R288G probably damaging Het
Olfr1259 T A 2: 89,943,792 T108S probably benign Het
Olfr802 T G 10: 129,681,836 N301T possibly damaging Het
Parva C A 7: 112,560,062 N142K possibly damaging Het
Pclo T A 5: 14,788,398 S4678R unknown Het
Pcnt T C 10: 76,442,611 D3G possibly damaging Het
Pdzd2 A C 15: 12,374,281 S1923A possibly damaging Het
Per1 G A 11: 69,107,627 G1055D probably damaging Het
Plb1 G A 5: 32,329,949 probably null Het
Ppp1r14a C T 7: 29,293,284 P137L probably damaging Het
Rfx2 A T 17: 56,779,890 S612T possibly damaging Het
Rtel1 T C 2: 181,352,100 F642L probably benign Het
Sec14l3 T C 11: 4,066,138 F19S probably damaging Het
Skint8 A T 4: 111,936,892 M160L probably benign Het
Slc19a3 G T 1: 83,023,055 Y80* probably null Het
Slc37a1 T A 17: 31,346,457 W489R probably damaging Het
Smc4 A G 3: 69,025,857 I604V probably benign Het
Srprb G T 9: 103,198,849 Y796* probably null Het
Tdrd7 T A 4: 45,992,225 S220T probably benign Het
Tex15 T C 8: 33,577,187 F2215S probably damaging Het
Ticrr C T 7: 79,679,105 A664V probably damaging Het
Tnc T G 4: 64,006,422 D1013A possibly damaging Het
Tpte T A 8: 22,284,967 Y18N possibly damaging Het
Ubqlnl T A 7: 104,149,132 Q386L probably damaging Het
Vmn1r194 T C 13: 22,244,342 V43A possibly damaging Het
Vmn2r5 T C 3: 64,504,076 D357G probably damaging Het
Vmn2r-ps130 A T 17: 23,063,829 Q161L probably benign Het
Zfhx4 T G 3: 5,403,138 D2785E probably damaging Het
Other mutations in Elfn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01353:Elfn2 APN 15 78672418 missense possibly damaging 0.88
IGL02165:Elfn2 APN 15 78673418 missense probably benign 0.04
IGL02951:Elfn2 APN 15 78671882 missense probably damaging 1.00
IGL03402:Elfn2 APN 15 78673470 missense possibly damaging 0.50
R0083:Elfn2 UTSW 15 78673414 missense probably damaging 1.00
R0441:Elfn2 UTSW 15 78673595 missense probably benign 0.09
R0570:Elfn2 UTSW 15 78673234 missense probably damaging 1.00
R1155:Elfn2 UTSW 15 78673144 missense probably benign 0.03
R1670:Elfn2 UTSW 15 78672368 missense probably benign 0.05
R2033:Elfn2 UTSW 15 78671896 missense probably damaging 1.00
R2138:Elfn2 UTSW 15 78674038 missense probably benign 0.05
R2167:Elfn2 UTSW 15 78672446 missense probably benign 0.09
R2226:Elfn2 UTSW 15 78674243 missense probably damaging 1.00
R2497:Elfn2 UTSW 15 78674264 missense probably damaging 1.00
R5175:Elfn2 UTSW 15 78673873 missense probably damaging 1.00
R5215:Elfn2 UTSW 15 78674201 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAACTCCCTCGGTGACTCAC -3'
(R):5'- GAACGAGATTTCCTACATCGAGG -3'

Sequencing Primer
(F):5'- CACTGCAGGCGATCATAGTTC -3'
(R):5'- ATTTCCTACATCGAGGATGGTGCC -3'
Posted On2016-10-26