Incidental Mutation 'R5813:Adam15'
ID 447600
Institutional Source Beutler Lab
Gene Symbol Adam15
Ensembl Gene ENSMUSG00000028041
Gene Name ADAM metallopeptidase domain 15
Synonyms metargidin, MDC15
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.305) question?
Stock # R5813 (G1)
Quality Score 126
Status Not validated
Chromosome 3
Chromosomal Location 89246947-89257589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89253135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 230 (Y230H)
Ref Sequence ENSEMBL: ENSMUSP00000139147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029676] [ENSMUST00000070820] [ENSMUST00000074582] [ENSMUST00000107446] [ENSMUST00000107448] [ENSMUST00000184651]
AlphaFold O88839
Predicted Effect probably benign
Transcript: ENSMUST00000029676
AA Change: Y230H

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000029676
Gene: ENSMUSG00000028041
AA Change: Y230H

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Pep_M12B_propep 29 158 1.2e-14 PFAM
Pfam:Reprolysin_3 208 360 1e-12 PFAM
Pfam:Reprolysin_5 212 394 1.5e-15 PFAM
Pfam:Reprolysin_4 214 410 3.1e-8 PFAM
Pfam:Reprolysin 214 416 1.6e-54 PFAM
Pfam:Reprolysin_2 257 405 9.9e-12 PFAM
DISIN 431 507 2.28e-37 SMART
ACR 508 650 8.38e-56 SMART
EGF 657 686 7.02e-1 SMART
transmembrane domain 695 717 N/A INTRINSIC
low complexity region 763 781 N/A INTRINSIC
low complexity region 808 862 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000070820
SMART Domains Protein: ENSMUSP00000065502
Gene: ENSMUSG00000042672

DomainStartEndE-ValueType
coiled coil region 18 44 N/A INTRINSIC
transmembrane domain 74 96 N/A INTRINSIC
transmembrane domain 108 125 N/A INTRINSIC
transmembrane domain 398 420 N/A INTRINSIC
Pfam:DC_STAMP 431 621 1.5e-55 PFAM
Blast:RING 672 710 3e-17 BLAST
SCOP:d1ldjb_ 672 710 2e-3 SMART
low complexity region 717 728 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000074582
AA Change: Y230H

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000074167
Gene: ENSMUSG00000028041
AA Change: Y230H

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Pep_M12B_propep 31 164 2.6e-21 PFAM
Pfam:Reprolysin_5 212 394 1.6e-15 PFAM
Pfam:Reprolysin_4 214 410 2.9e-8 PFAM
Pfam:Reprolysin 214 415 4.2e-56 PFAM
Pfam:Reprolysin_3 238 360 1.7e-14 PFAM
Pfam:Reprolysin_2 254 405 1.1e-10 PFAM
DISIN 431 507 2.28e-37 SMART
ACR 508 650 8.38e-56 SMART
EGF 657 686 7.02e-1 SMART
transmembrane domain 695 717 N/A INTRINSIC
low complexity region 760 813 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107446
AA Change: Y230H

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000103070
Gene: ENSMUSG00000028041
AA Change: Y230H

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Pep_M12B_propep 31 164 9.9e-22 PFAM
Pfam:Reprolysin_3 209 360 5.9e-15 PFAM
Pfam:Reprolysin_5 212 394 5e-16 PFAM
Pfam:Reprolysin_4 213 410 1e-8 PFAM
Pfam:Reprolysin 214 415 1.4e-56 PFAM
Pfam:Reprolysin_2 253 405 4e-11 PFAM
low complexity region 416 446 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107448
AA Change: Y230H

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000103072
Gene: ENSMUSG00000028041
AA Change: Y230H

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Pep_M12B_propep 31 164 2.7e-21 PFAM
Pfam:Reprolysin_5 212 394 1.6e-15 PFAM
Pfam:Reprolysin_4 214 410 3e-8 PFAM
Pfam:Reprolysin 214 415 4.4e-56 PFAM
Pfam:Reprolysin_3 238 360 1.8e-14 PFAM
Pfam:Reprolysin_2 254 405 1.2e-10 PFAM
DISIN 431 507 2.28e-37 SMART
ACR 508 650 8.38e-56 SMART
EGF 657 686 7.02e-1 SMART
transmembrane domain 695 717 N/A INTRINSIC
low complexity region 783 837 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134839
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180791
Predicted Effect probably benign
Transcript: ENSMUST00000184651
AA Change: Y230H

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000139147
Gene: ENSMUSG00000028041
AA Change: Y230H

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Pep_M12B_propep 31 164 2.9e-21 PFAM
Pfam:Reprolysin_5 212 394 1.7e-15 PFAM
Pfam:Reprolysin_4 214 410 3.1e-8 PFAM
Pfam:Reprolysin 214 415 4.6e-56 PFAM
Pfam:Reprolysin_3 238 360 1.9e-14 PFAM
Pfam:Reprolysin_2 255 405 1.2e-10 PFAM
DISIN 431 507 2.28e-37 SMART
ACR 508 650 8.38e-56 SMART
EGF 657 686 7.02e-1 SMART
transmembrane domain 695 717 N/A INTRINSIC
low complexity region 763 781 N/A INTRINSIC
low complexity region 808 862 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144608
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155295
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148068
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155868
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. This gene is prominently expressed in vascular cells, the endocardium, hypertrophic cells in developing bone, and specific areas of hippocampus and cerebellum. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. Mice lacking the encoded protein have increased bone mass resulting from osteoblast proliferation, and exhibit reduced neovascularization in a mouse model for retinopathy. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous mutant mice develop normally and exhibit normal angiogenesis, but show a resistance to pathological neovascularization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano7 G T 1: 93,312,641 (GRCm39) probably null Het
Arap2 T C 5: 62,834,506 (GRCm39) Y792C probably damaging Het
Art3 C A 5: 92,560,100 (GRCm39) probably benign Het
Atad2 C T 15: 57,963,250 (GRCm39) G1085D probably benign Het
Birc6 C A 17: 74,953,497 (GRCm39) A3253E probably damaging Het
C9 C T 15: 6,526,607 (GRCm39) P547L probably benign Het
Cecr2 T C 6: 120,739,169 (GRCm39) S1271P probably damaging Het
Ces1e T A 8: 93,948,305 (GRCm39) K105* probably null Het
Cpsf4 A G 5: 145,115,683 (GRCm39) N204S probably benign Het
Cracd A G 5: 77,006,275 (GRCm39) T879A unknown Het
Dgkz T C 2: 91,769,733 (GRCm39) D615G possibly damaging Het
Disp1 G T 1: 182,869,974 (GRCm39) N815K probably damaging Het
Enah A G 1: 181,758,750 (GRCm39) probably benign Het
Fcgbp A G 7: 27,800,919 (GRCm39) T1322A possibly damaging Het
Frem1 A G 4: 82,918,395 (GRCm39) F516L probably damaging Het
Fry G A 5: 150,323,136 (GRCm39) A1096T probably damaging Het
Fyco1 T C 9: 123,660,413 (GRCm39) Y190C probably damaging Het
Gfra1 T C 19: 58,227,687 (GRCm39) D417G probably benign Het
Gigyf2 T C 1: 87,368,485 (GRCm39) I1055T probably damaging Het
Invs A G 4: 48,398,146 (GRCm39) E444G probably damaging Het
Itga10 A G 3: 96,559,901 (GRCm39) T519A probably benign Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kdm2b A G 5: 123,009,931 (GRCm39) S727P probably benign Het
Kidins220 A T 12: 25,107,139 (GRCm39) K1531* probably null Het
Ksr1 C T 11: 78,929,024 (GRCm39) V266M probably damaging Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Lipi T C 16: 75,370,798 (GRCm39) R140G possibly damaging Het
Lrrc32 T C 7: 98,147,618 (GRCm39) S133P probably damaging Het
Map3k7 T A 4: 31,964,318 (GRCm39) I19N probably damaging Het
Marf1 A G 16: 13,970,449 (GRCm39) V90A probably benign Het
Mark3 T C 12: 111,621,877 (GRCm39) L673P probably damaging Het
Meis1 T C 11: 18,966,229 (GRCm39) H48R probably benign Het
Mettl26 G A 17: 26,094,995 (GRCm39) V87M probably damaging Het
Mknk2 T C 10: 80,511,696 (GRCm39) R5G probably benign Het
Mtcl3 G T 10: 29,026,240 (GRCm39) V441F probably damaging Het
Mterf1b T C 5: 4,246,956 (GRCm39) V199A possibly damaging Het
Ncs1 T A 2: 31,170,666 (GRCm39) probably null Het
Nek10 T C 14: 14,986,704 (GRCm38) V1014A probably benign Het
Notch2 A G 3: 98,042,744 (GRCm39) N1370D probably benign Het
Nr2e3 TCCATCGGAGTGTTCCC TC 9: 59,850,701 (GRCm39) probably benign Het
Opn5 C G 17: 42,903,897 (GRCm39) R146T probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or5m3 T C 2: 85,838,636 (GRCm39) I172T probably damaging Het
Or8b55 T A 9: 38,726,952 (GRCm39) M51K probably benign Het
Or8g33 A G 9: 39,338,032 (GRCm39) C112R probably damaging Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Pcyox1l C T 18: 61,832,359 (GRCm39) probably null Het
Plxnb2 T C 15: 89,044,962 (GRCm39) T1128A possibly damaging Het
Prex1 T C 2: 166,425,127 (GRCm39) T960A probably benign Het
Prkaa2 A C 4: 104,893,291 (GRCm39) *553G probably null Het
Rasgrp4 A G 7: 28,844,639 (GRCm39) D297G probably damaging Het
Sdf4 G A 4: 156,083,856 (GRCm39) V109I probably benign Het
Serpinb3d T C 1: 107,007,027 (GRCm39) K227R probably benign Het
Sgsm1 A T 5: 113,398,822 (GRCm39) I750N probably damaging Het
Shtn1 T A 19: 59,020,673 (GRCm39) K183M probably damaging Het
Skic3 A G 13: 76,303,852 (GRCm39) T1257A probably benign Het
Slc22a30 T C 19: 8,381,945 (GRCm39) T109A probably benign Het
Slco1c1 A G 6: 141,487,929 (GRCm39) D99G probably damaging Het
Tcf25 T A 8: 124,122,354 (GRCm39) probably null Het
Tex10 A G 4: 48,452,928 (GRCm39) V677A probably benign Het
Tmem131l A G 3: 83,847,879 (GRCm39) S329P probably benign Het
Trappc10 T A 10: 78,058,573 (GRCm39) N136I probably damaging Het
Trpt1 T C 19: 6,975,906 (GRCm39) F173L probably benign Het
Ube4b G A 4: 149,421,925 (GRCm39) R955C probably damaging Het
Usp34 C A 11: 23,371,340 (GRCm39) P1840T probably benign Het
Vmn1r27 A T 6: 58,192,985 (GRCm39) N6K possibly damaging Het
Wdr25 T C 12: 108,993,347 (GRCm39) V521A possibly damaging Het
Wdr64 G A 1: 175,639,623 (GRCm39) E1031K possibly damaging Het
Wnt10a A G 1: 74,839,755 (GRCm39) N147S probably damaging Het
Zbed5 T C 5: 129,931,059 (GRCm39) I336T possibly damaging Het
Zfp758 T A 17: 22,594,796 (GRCm39) H427Q probably damaging Het
Zfp961 C A 8: 72,722,070 (GRCm39) H194Q probably damaging Het
Other mutations in Adam15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01929:Adam15 APN 3 89,251,445 (GRCm39) missense probably benign 0.03
IGL01994:Adam15 APN 3 89,248,812 (GRCm39) splice site probably benign
IGL02184:Adam15 APN 3 89,253,241 (GRCm39) splice site probably benign
IGL02501:Adam15 APN 3 89,247,769 (GRCm39) missense possibly damaging 0.82
IGL02821:Adam15 APN 3 89,252,663 (GRCm39) missense probably damaging 1.00
IGL02933:Adam15 APN 3 89,250,790 (GRCm39) missense possibly damaging 0.91
IGL03078:Adam15 APN 3 89,253,244 (GRCm39) splice site probably benign
IGL03185:Adam15 APN 3 89,255,212 (GRCm39) missense probably benign 0.41
PIT4280001:Adam15 UTSW 3 89,251,285 (GRCm39) critical splice acceptor site probably null
PIT4581001:Adam15 UTSW 3 89,251,139 (GRCm39) missense probably benign 0.00
R0559:Adam15 UTSW 3 89,251,085 (GRCm39) missense probably damaging 1.00
R1530:Adam15 UTSW 3 89,257,137 (GRCm39) missense probably damaging 0.99
R1670:Adam15 UTSW 3 89,255,817 (GRCm39) splice site probably benign
R1909:Adam15 UTSW 3 89,252,637 (GRCm39) missense probably benign 0.19
R3110:Adam15 UTSW 3 89,254,764 (GRCm39) missense probably benign 0.10
R3112:Adam15 UTSW 3 89,254,764 (GRCm39) missense probably benign 0.10
R3897:Adam15 UTSW 3 89,254,245 (GRCm39) missense probably benign 0.00
R4058:Adam15 UTSW 3 89,254,362 (GRCm39) missense possibly damaging 0.94
R4573:Adam15 UTSW 3 89,253,293 (GRCm39) missense probably damaging 1.00
R5267:Adam15 UTSW 3 89,257,206 (GRCm39) utr 5 prime probably benign
R5364:Adam15 UTSW 3 89,252,902 (GRCm39) missense probably damaging 1.00
R5801:Adam15 UTSW 3 89,249,668 (GRCm39) missense probably damaging 1.00
R5964:Adam15 UTSW 3 89,250,874 (GRCm39) nonsense probably null
R6218:Adam15 UTSW 3 89,251,190 (GRCm39) missense probably benign 0.00
R6564:Adam15 UTSW 3 89,254,519 (GRCm39) missense possibly damaging 0.56
R6579:Adam15 UTSW 3 89,252,936 (GRCm39) missense probably damaging 1.00
R6834:Adam15 UTSW 3 89,247,390 (GRCm39) missense probably damaging 0.96
R7131:Adam15 UTSW 3 89,254,287 (GRCm39) missense possibly damaging 0.64
R7204:Adam15 UTSW 3 89,254,244 (GRCm39) missense probably benign 0.01
R7578:Adam15 UTSW 3 89,251,499 (GRCm39) missense probably damaging 1.00
R7663:Adam15 UTSW 3 89,253,113 (GRCm39) missense probably damaging 0.99
R8016:Adam15 UTSW 3 89,252,668 (GRCm39) missense probably benign
R8098:Adam15 UTSW 3 89,251,193 (GRCm39) missense probably damaging 1.00
R8133:Adam15 UTSW 3 89,254,513 (GRCm39) missense probably benign 0.02
R8230:Adam15 UTSW 3 89,252,917 (GRCm39) missense probably benign 0.06
R9149:Adam15 UTSW 3 89,254,742 (GRCm39) missense possibly damaging 0.60
R9307:Adam15 UTSW 3 89,254,790 (GRCm39) missense possibly damaging 0.94
R9308:Adam15 UTSW 3 89,254,790 (GRCm39) missense possibly damaging 0.94
R9321:Adam15 UTSW 3 89,254,794 (GRCm39) critical splice acceptor site probably null
R9612:Adam15 UTSW 3 89,249,247 (GRCm39) missense probably damaging 1.00
R9670:Adam15 UTSW 3 89,253,270 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- TTGTCTAGCAGGACAGCTGG -3'
(R):5'- CCACAGCTTAAGCGAGATGTAG -3'

Sequencing Primer
(F):5'- TACCCGGACATTCAAGGGCTG -3'
(R):5'- TGTGTTGACACCATAGCC -3'
Posted On 2016-12-15