Incidental Mutation 'R7760:Elfn2'
ID 597823
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 045816-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R7760 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 78551531-78602971 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 78558041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 169 (A169T)
Ref Sequence ENSEMBL: ENSMUSP00000085960 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088592] [ENSMUST00000229441]
AlphaFold Q68FM6
Predicted Effect probably benign
Transcript: ENSMUST00000088592
AA Change: A169T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000085960
Gene: ENSMUSG00000043460
AA Change: A169T

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: A169T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa11 C T 14: 25,873,251 (GRCm39) Q162* probably null Het
Arg1 T G 10: 24,803,361 (GRCm39) probably benign Het
Arl6 T C 16: 59,439,169 (GRCm39) D175G probably damaging Het
Capg A G 6: 72,534,769 (GRCm39) R199G probably damaging Het
Ceacam1 T A 7: 25,171,450 (GRCm39) E338V probably damaging Het
Clec4d A G 6: 123,247,300 (GRCm39) N148D probably benign Het
Ctr9 T G 7: 110,645,808 (GRCm39) I653R probably damaging Het
Dmwd C T 7: 18,814,660 (GRCm39) L437F probably damaging Het
Dnah7b T A 1: 46,240,413 (GRCm39) L1510Q probably damaging Het
Efcab5 T A 11: 77,042,752 (GRCm39) E136D probably benign Het
Elp1 A G 4: 56,790,892 (GRCm39) V287A probably benign Het
Esrp2 T A 8: 106,860,102 (GRCm39) E326D probably benign Het
Fbrs T C 7: 127,088,572 (GRCm39) V718A probably damaging Het
Fbxl21 C T 13: 56,684,816 (GRCm39) R307C probably benign Het
Fbxl21 T C 13: 56,674,747 (GRCm39) S33P probably benign Het
Gatad2b C T 3: 90,261,776 (GRCm39) R461W probably damaging Het
Gm19410 T A 8: 36,269,491 (GRCm39) C1109S probably damaging Het
Gm6882 T A 7: 21,161,409 (GRCm39) D153V probably damaging Het
Golga3 A G 5: 110,353,716 (GRCm39) E918G probably benign Het
Greb1 T C 12: 16,773,417 (GRCm39) N219S probably benign Het
Grpel1 G T 5: 36,627,986 (GRCm39) R89L probably damaging Het
Ighv5-12 T A 12: 113,665,795 (GRCm39) Q101L probably benign Het
Ldb3 T A 14: 34,264,460 (GRCm39) N590I probably damaging Het
Man2c1 T C 9: 57,046,647 (GRCm39) V636A probably benign Het
Mblac2 G T 13: 81,859,996 (GRCm39) V117L probably benign Het
Muc6 T A 7: 141,237,322 (GRCm39) probably null Het
Nfatc3 A G 8: 106,834,973 (GRCm39) E773G possibly damaging Het
Ngef T C 1: 87,468,495 (GRCm39) D88G probably benign Het
Nipbl T C 15: 8,388,186 (GRCm39) E478G probably damaging Het
Or2t6 T C 14: 14,175,905 (GRCm38) Y59C probably damaging Het
Pbx4 C A 8: 70,285,445 (GRCm39) D29E probably benign Het
Pcdhgb5 A G 18: 37,864,690 (GRCm39) I162V not run Het
Pdcd11 G A 19: 47,101,637 (GRCm39) V941M possibly damaging Het
Pigr A T 1: 130,774,368 (GRCm39) R449S possibly damaging Het
Plcb2 T C 2: 118,541,869 (GRCm39) T914A probably benign Het
Ppp5c A G 7: 16,740,274 (GRCm39) S387P probably damaging Het
Rnf7l T C 10: 63,257,316 (GRCm39) K68R probably damaging Het
Rtkn2 T G 10: 67,841,439 (GRCm39) S196A probably damaging Het
Sec31a A G 5: 100,540,487 (GRCm39) F400L probably damaging Het
Senp7 A T 16: 55,959,442 (GRCm39) M251L probably benign Het
Slc6a5 T C 7: 49,596,365 (GRCm39) F612L probably benign Het
Slc7a9 T C 7: 35,156,500 (GRCm39) I314T possibly damaging Het
Smc5 A C 19: 23,213,254 (GRCm39) S553A probably benign Het
Spaca3 T A 11: 80,755,389 (GRCm39) V133D probably damaging Het
Taco1 T A 11: 105,963,938 (GRCm39) D232E possibly damaging Het
Tarbp1 C T 8: 127,179,546 (GRCm39) R664H not run Het
Tlk2 T C 11: 105,169,993 (GRCm39) I674T probably damaging Het
Tnxb A T 17: 34,931,911 (GRCm39) E2148V probably damaging Het
Tom1l2 T C 11: 60,165,791 (GRCm39) S59G probably benign Het
Traj46 A T 14: 54,409,813 (GRCm39) H7L Het
Traj46 T G 14: 54,409,814 (GRCm39) H7Q Het
Trav6-4 T A 14: 53,692,103 (GRCm39) L70Q possibly damaging Het
Trmt1l C T 1: 151,318,425 (GRCm39) T245I possibly damaging Het
Wac T A 18: 7,921,913 (GRCm39) C601S probably benign Het
Wnt3 T A 11: 103,702,266 (GRCm39) H145Q probably benign Het
Zfp948 T C 17: 21,808,628 (GRCm39) C607R 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
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
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'- GACAGTGATGGCATTGAGGCTG -3'
(R):5'- ACATCGAGGATGGTGCCTTC -3'

Sequencing Primer
(F):5'- TAAGGTCTGGGCACGAGC -3'
(R):5'- TGCAGCTGGGCTACAAC -3'
Posted On 2019-11-26