Incidental Mutation 'R7267:Adam19'
ID 565012
Institutional Source Beutler Lab
Gene Symbol Adam19
Ensembl Gene ENSMUSG00000011256
Gene Name ADAM metallopeptidase domain 19
Synonyms Mltnb
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7267 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 45946819-46038170 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 46012403 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 300 (Q300*)
Ref Sequence ENSEMBL: ENSMUSP00000011400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011400]
AlphaFold O35674
Predicted Effect probably null
Transcript: ENSMUST00000011400
AA Change: Q300*
SMART Domains Protein: ENSMUSP00000011400
Gene: ENSMUSG00000011256
AA Change: Q300*

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Pep_M12B_propep 32 163 9.4e-27 PFAM
Pfam:Reprolysin_5 209 388 1.9e-25 PFAM
Pfam:Reprolysin_4 209 399 1.5e-15 PFAM
Pfam:Reprolysin 211 409 1.3e-68 PFAM
Pfam:Reprolysin_2 231 399 6.1e-19 PFAM
Pfam:Reprolysin_3 235 357 1.2e-19 PFAM
DISIN 426 501 9.7e-41 SMART
ACR 502 650 7.46e-62 SMART
transmembrane domain 704 726 N/A INTRINSIC
low complexity region 788 797 N/A INTRINSIC
low complexity region 832 846 N/A INTRINSIC
low complexity region 886 905 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a cell surface glycoprotein and member of the ADAM (a disintegrin and metalloproteinase) family of endopeptidases. The encoded protein may play a role in the ectodomain shedding of neuregulin proteins. Homozygous knockout mice for this gene exhibit heart development defects and perinatal lethality. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that undergoes proteolytic processing to generate a mature protein product. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous null mice exhibit cardiac developmental defects and die perinatally. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,916,205 (GRCm39) I37T probably damaging Het
Ackr2 A G 9: 121,737,874 (GRCm39) Y83C probably damaging Het
Anxa7 C T 14: 20,519,474 (GRCm39) A115T probably benign Het
Aoc1l3 AGGCCCAGCCTGATCCTAAATTTCCTATCCCCATCAGCAAAGGTGGCCCTCAAGTGGCCCAGCC AGGCCCAGCC 6: 48,964,952 (GRCm39) probably benign Het
Atad2b A T 12: 5,077,105 (GRCm39) R1109* probably null Het
Batf2 A G 19: 6,221,396 (GRCm39) T69A probably benign Het
Best1 A G 19: 9,964,177 (GRCm39) C428R probably benign Het
Birc6 A G 17: 74,892,980 (GRCm39) T973A probably benign Het
Bmp2k C T 5: 97,216,293 (GRCm39) T597I unknown Het
Bmpr1a G A 14: 34,165,836 (GRCm39) P57L possibly damaging Het
Camk2d A T 3: 126,591,379 (GRCm39) H283L possibly damaging Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Ces1b C A 8: 93,806,132 (GRCm39) K36N possibly damaging Het
Ces2a T A 8: 105,465,672 (GRCm39) M308K probably benign Het
Ctnnd2 C A 15: 30,683,501 (GRCm39) Q501K probably benign Het
Cyb561d1 T C 3: 108,106,629 (GRCm39) T197A probably benign Het
Dedd2 C A 7: 24,918,391 (GRCm39) A55S probably damaging Het
Dnah2 C T 11: 69,391,643 (GRCm39) R684Q probably damaging Het
Elovl3 A G 19: 46,122,979 (GRCm39) Y185C probably damaging Het
Fgf3 C T 7: 144,392,569 (GRCm39) A42V probably damaging Het
Gabra5 A G 7: 57,140,529 (GRCm39) L56P probably damaging Het
Gm19410 T G 8: 36,281,997 (GRCm39) V1860G possibly damaging Het
Gm21663 G T 5: 26,143,751 (GRCm39) N190K probably damaging Het
Grm3 T A 5: 9,639,581 (GRCm39) I155L probably benign Het
Hadha A G 5: 30,327,755 (GRCm39) I495T probably damaging Het
Herc4 C T 10: 63,109,365 (GRCm39) A200V possibly damaging Het
Itga3 C A 11: 94,967,188 (GRCm39) probably benign Het
Krt6a C T 15: 101,602,289 (GRCm39) S132N probably benign Het
Lpar1 T C 4: 58,486,857 (GRCm39) N138S possibly damaging Het
Lrrc42 T A 4: 107,096,983 (GRCm39) T247S probably damaging Het
Man2b1 T A 8: 85,813,804 (GRCm39) V256E probably damaging Het
Map3k4 G T 17: 12,490,536 (GRCm39) Y298* probably null Het
Mars1 A G 10: 127,144,455 (GRCm39) V195A probably benign Het
Mdm4 A T 1: 132,922,311 (GRCm39) V278E probably benign Het
Mdp1 A G 14: 55,897,544 (GRCm39) V37A probably damaging Het
Med13 A G 11: 86,199,652 (GRCm39) I685T probably benign Het
Mobp A G 9: 119,996,914 (GRCm39) N15S probably damaging Het
Nbn T A 4: 15,979,320 (GRCm39) M435K probably benign Het
Nfs1 A G 2: 155,965,703 (GRCm39) V126A probably benign Het
Npepl1 T A 2: 173,963,909 (GRCm39) V480E probably damaging Het
Nr2e3 G A 9: 59,855,972 (GRCm39) S155F possibly damaging Het
Oplah T C 15: 76,189,209 (GRCm39) D278G probably benign Het
Or4c124 A T 2: 89,156,157 (GRCm39) Y122* probably null Het
Or51q1c A G 7: 103,653,046 (GRCm39) H188R probably benign Het
Pard3 T C 8: 128,098,056 (GRCm39) Y366H probably damaging Het
Pcdhb11 A G 18: 37,555,006 (GRCm39) N112S possibly damaging Het
Pde11a A G 2: 76,168,189 (GRCm39) S255P probably damaging Het
Piezo1 T C 8: 123,224,268 (GRCm39) H745R Het
Pkn2 A T 3: 142,517,776 (GRCm39) S441T possibly damaging Het
Pld1 A C 3: 28,130,550 (GRCm39) H450P probably damaging Het
Plekhs1 T A 19: 56,459,209 (GRCm39) H22Q probably damaging Het
Prss44 A C 9: 110,645,611 (GRCm39) Y285S probably damaging Het
Qpctl T C 7: 18,878,852 (GRCm39) E249G probably benign Het
Rcsd1 A T 1: 165,491,185 (GRCm39) S50T probably damaging Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Scube1 T A 15: 83,505,266 (GRCm39) N496Y probably damaging Het
Skic3 A G 13: 76,328,196 (GRCm39) M1415V probably benign Het
Slc16a8 AGGCC A 15: 79,136,125 (GRCm39) probably null Het
Slc38a4 T A 15: 96,903,781 (GRCm39) T407S probably benign Het
Slc51a T G 16: 32,298,590 (GRCm39) I56L probably benign Het
Slc6a18 T G 13: 73,819,755 (GRCm39) I272L probably damaging Het
Sorl1 A G 9: 42,035,375 (GRCm39) L12P possibly damaging Het
Sycp2l A T 13: 41,300,070 (GRCm39) D428V possibly damaging Het
Syne1 C T 10: 5,178,218 (GRCm39) R4752Q probably damaging Het
Tbc1d9 C A 8: 83,997,957 (GRCm39) H1171Q probably damaging Het
Thsd1 G A 8: 22,733,597 (GRCm39) V215I probably benign Het
Tmem143 T A 7: 45,557,598 (GRCm39) M208K probably benign Het
Tmem63b C T 17: 45,977,048 (GRCm39) V440I probably benign Het
Tnik A T 3: 28,700,776 (GRCm39) S918C probably damaging Het
Ttn A G 2: 76,733,751 (GRCm39) I4508T unknown Het
Vav2 A G 2: 27,173,334 (GRCm39) F497L probably damaging Het
Zc3h14 G A 12: 98,751,988 (GRCm39) R730Q probably damaging Het
Zfp560 G A 9: 20,259,384 (GRCm39) H493Y probably damaging Het
Other mutations in Adam19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01433:Adam19 APN 11 46,003,610 (GRCm39) missense probably damaging 1.00
IGL01727:Adam19 APN 11 46,012,380 (GRCm39) missense probably benign
IGL01758:Adam19 APN 11 46,003,751 (GRCm39) missense probably benign 0.01
IGL02160:Adam19 APN 11 46,030,522 (GRCm39) missense probably damaging 0.99
IGL02421:Adam19 APN 11 46,028,380 (GRCm39) missense probably damaging 0.96
IGL02572:Adam19 APN 11 46,022,548 (GRCm39) nonsense probably null
IGL02995:Adam19 APN 11 46,027,176 (GRCm39) missense probably benign 0.00
IGL03171:Adam19 APN 11 46,029,681 (GRCm39) missense probably damaging 0.98
IGL03237:Adam19 APN 11 46,028,383 (GRCm39) missense probably benign
R0003:Adam19 UTSW 11 46,019,616 (GRCm39) missense probably damaging 1.00
R0026:Adam19 UTSW 11 46,027,086 (GRCm39) missense probably damaging 1.00
R0158:Adam19 UTSW 11 46,033,861 (GRCm39) missense probably damaging 1.00
R0304:Adam19 UTSW 11 46,018,219 (GRCm39) missense possibly damaging 0.91
R0488:Adam19 UTSW 11 46,029,757 (GRCm39) missense probably damaging 0.98
R0501:Adam19 UTSW 11 46,013,957 (GRCm39) missense probably damaging 1.00
R0591:Adam19 UTSW 11 46,012,238 (GRCm39) splice site probably benign
R0734:Adam19 UTSW 11 46,018,230 (GRCm39) missense probably damaging 0.99
R0747:Adam19 UTSW 11 46,009,322 (GRCm39) splice site probably null
R0771:Adam19 UTSW 11 46,012,280 (GRCm39) missense possibly damaging 0.92
R1052:Adam19 UTSW 11 46,018,092 (GRCm39) missense probably damaging 0.99
R1573:Adam19 UTSW 11 46,004,445 (GRCm39) splice site probably benign
R1735:Adam19 UTSW 11 46,029,744 (GRCm39) missense probably benign 0.26
R1830:Adam19 UTSW 11 46,018,105 (GRCm39) missense probably damaging 0.98
R1911:Adam19 UTSW 11 46,012,281 (GRCm39) missense probably damaging 1.00
R2092:Adam19 UTSW 11 45,951,731 (GRCm39) splice site probably null
R3749:Adam19 UTSW 11 46,028,437 (GRCm39) missense probably benign 0.00
R3893:Adam19 UTSW 11 46,019,665 (GRCm39) missense probably damaging 1.00
R3916:Adam19 UTSW 11 45,951,762 (GRCm39) missense probably benign 0.25
R3917:Adam19 UTSW 11 45,951,762 (GRCm39) missense probably benign 0.25
R4506:Adam19 UTSW 11 46,009,271 (GRCm39) missense possibly damaging 0.67
R4767:Adam19 UTSW 11 46,029,804 (GRCm39) critical splice donor site probably null
R5055:Adam19 UTSW 11 46,013,996 (GRCm39) missense probably damaging 1.00
R5313:Adam19 UTSW 11 46,022,603 (GRCm39) missense probably damaging 1.00
R5329:Adam19 UTSW 11 46,015,853 (GRCm39) missense probably damaging 0.99
R5567:Adam19 UTSW 11 46,027,077 (GRCm39) missense probably damaging 1.00
R5602:Adam19 UTSW 11 46,027,142 (GRCm39) missense probably benign
R6198:Adam19 UTSW 11 46,012,329 (GRCm39) missense probably damaging 1.00
R6875:Adam19 UTSW 11 46,003,702 (GRCm39) missense probably benign
R7011:Adam19 UTSW 11 46,033,845 (GRCm39) missense probably benign 0.00
R7163:Adam19 UTSW 11 46,022,544 (GRCm39) missense probably benign
R7213:Adam19 UTSW 11 46,012,298 (GRCm39) missense probably benign 0.20
R7896:Adam19 UTSW 11 46,028,370 (GRCm39) missense probably damaging 1.00
R8012:Adam19 UTSW 11 45,955,873 (GRCm39) missense possibly damaging 0.74
R8059:Adam19 UTSW 11 46,027,293 (GRCm39) splice site probably benign
R8243:Adam19 UTSW 11 46,015,909 (GRCm39) missense probably damaging 1.00
R8357:Adam19 UTSW 11 46,030,939 (GRCm39) missense probably damaging 0.96
R8419:Adam19 UTSW 11 46,015,850 (GRCm39) missense possibly damaging 0.77
R8457:Adam19 UTSW 11 46,030,939 (GRCm39) missense probably damaging 0.96
R9163:Adam19 UTSW 11 46,018,176 (GRCm39) missense probably benign 0.02
R9349:Adam19 UTSW 11 46,022,570 (GRCm39) nonsense probably null
R9489:Adam19 UTSW 11 46,028,449 (GRCm39) missense probably benign 0.10
R9579:Adam19 UTSW 11 46,009,262 (GRCm39) missense probably benign 0.00
R9641:Adam19 UTSW 11 46,027,149 (GRCm39) missense probably damaging 1.00
X0067:Adam19 UTSW 11 45,946,942 (GRCm39) start codon destroyed probably null 0.06
Predicted Primers PCR Primer
(F):5'- GAGAGAAACTGGCCTTTTGGTG -3'
(R):5'- TGGAACTCTGCAGAGGACTG -3'

Sequencing Primer
(F):5'- AGAAACTGGCCTTTTGGTGTCTTTTC -3'
(R):5'- GAACTCTGCAGAGGACTGTTATC -3'
Posted On 2019-06-26