Incidental Mutation 'R0734:Adam19'
ID 68157
Institutional Source Beutler Lab
Gene Symbol Adam19
Ensembl Gene ENSMUSG00000011256
Gene Name ADAM metallopeptidase domain 19
Synonyms Mltnb
MMRRC Submission 038915-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0734 (G1)
Quality Score 223
Status Validated
Chromosome 11
Chromosomal Location 45946819-46038170 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 46018230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 431 (C431G)
Ref Sequence ENSEMBL: ENSMUSP00000011400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011400]
AlphaFold O35674
Predicted Effect probably damaging
Transcript: ENSMUST00000011400
AA Change: C431G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000011400
Gene: ENSMUSG00000011256
AA Change: C431G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151565
Meta Mutation Damage Score 0.9609 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.8%
  • 10x: 97.0%
  • 20x: 93.3%
Validation Efficiency 99% (80/81)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T A 16: 4,668,198 (GRCm39) S530T probably benign Het
Acer2 G T 4: 86,835,796 (GRCm39) K223N probably benign Het
Adamts16 T G 13: 70,886,600 (GRCm39) probably benign Het
Aox1 A T 1: 58,344,500 (GRCm39) E531V probably benign Het
Apaf1 A T 10: 90,872,883 (GRCm39) N720K probably benign Het
Atrnl1 T A 19: 57,643,293 (GRCm39) W394R probably damaging Het
Bcl6 T C 16: 23,786,889 (GRCm39) E634G probably damaging Het
Cfap65 T A 1: 74,958,046 (GRCm39) Y954F probably damaging Het
Cobl A G 11: 12,325,971 (GRCm39) V168A probably damaging Het
Cped1 C T 6: 22,085,040 (GRCm39) P210S probably damaging Het
Crb1 C T 1: 139,264,822 (GRCm39) V199M probably benign Het
Cyp2j6 A T 4: 96,412,081 (GRCm39) probably benign Het
Dhrs3 C G 4: 144,653,746 (GRCm39) S289W probably damaging Het
Dido1 T G 2: 180,301,835 (GRCm39) Q2023P probably benign Het
Dlg4 G A 11: 69,933,531 (GRCm39) G550R probably damaging Het
Dnah12 C A 14: 26,521,970 (GRCm39) H1928N probably benign Het
Dthd1 A C 5: 62,996,753 (GRCm39) probably benign Het
Erg C A 16: 95,170,884 (GRCm39) G269C possibly damaging Het
Erich6 G A 3: 58,536,809 (GRCm39) probably benign Het
F5 G C 1: 164,026,486 (GRCm39) R1686P probably damaging Het
Fancc T C 13: 63,479,656 (GRCm39) R300G probably damaging Het
Fcer1g T A 1: 171,058,748 (GRCm39) K47* probably null Het
Flt4 A G 11: 49,517,544 (GRCm39) T289A possibly damaging Het
Gcnt2 T A 13: 41,013,997 (GRCm39) F56Y probably benign Het
Gpatch8 G T 11: 102,372,226 (GRCm39) S437R unknown Het
Grin2a T A 16: 9,397,475 (GRCm39) I871F possibly damaging Het
Hsd17b4 T C 18: 50,303,844 (GRCm39) V439A possibly damaging Het
Hykk A T 9: 54,853,716 (GRCm39) K346M possibly damaging Het
Ifi208 T C 1: 173,510,901 (GRCm39) L352S probably damaging Het
Ikzf1 T C 11: 11,708,195 (GRCm39) V110A probably damaging Het
Irak3 A T 10: 119,981,542 (GRCm39) probably benign Het
Lamp5 T A 2: 135,900,950 (GRCm39) V50E probably damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lrch3 C T 16: 32,817,853 (GRCm39) R570* probably null Het
Map1lc3a T C 2: 155,118,896 (GRCm39) V20A possibly damaging Het
Map3k14 C A 11: 103,117,826 (GRCm39) K655N probably benign Het
Mark2 A G 19: 7,263,346 (GRCm39) probably benign Het
Mbtd1 G A 11: 93,813,972 (GRCm39) G205D probably damaging Het
Med13 T C 11: 86,192,063 (GRCm39) T861A probably benign Het
Meltf T A 16: 31,700,776 (GRCm39) Y99N probably damaging Het
Mex3d G A 10: 80,217,366 (GRCm39) T617I possibly damaging Het
Muc13 G A 16: 33,623,452 (GRCm39) V249I probably damaging Het
Myo18a C A 11: 77,738,230 (GRCm39) P1688Q probably damaging Het
Naaladl1 A T 19: 6,162,904 (GRCm39) probably null Het
Ncoa3 T A 2: 165,911,111 (GRCm39) probably benign Het
Nf2 T C 11: 4,770,409 (GRCm39) T67A probably benign Het
Nin A G 12: 70,076,887 (GRCm39) V1056A probably benign Het
Or1p1 A T 11: 74,179,772 (GRCm39) Q100L probably damaging Het
Or4d10c T A 19: 12,065,483 (GRCm39) R224S probably benign Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
P3h1 T C 4: 119,095,885 (GRCm39) L331P probably damaging Het
Pabpc4l T C 3: 46,401,408 (GRCm39) K79E possibly damaging Het
Pam T A 1: 97,792,087 (GRCm39) R445* probably null Het
Pcdhb6 T C 18: 37,468,387 (GRCm39) I436T probably damaging Het
Piezo2 A G 18: 63,174,794 (GRCm39) Y1987H probably damaging Het
Plch2 G A 4: 155,080,740 (GRCm39) T477I probably damaging Het
Postn G A 3: 54,270,136 (GRCm39) G72R probably damaging Het
Proca1 G A 11: 78,092,628 (GRCm39) probably benign Het
Psip1 T A 4: 83,381,825 (GRCm39) probably benign Het
Ptprd G A 4: 76,058,834 (GRCm39) P153L probably damaging Het
Rgl1 T C 1: 152,430,051 (GRCm39) D242G probably damaging Het
Ric1 T A 19: 29,572,218 (GRCm39) I671K possibly damaging Het
Rxrg T A 1: 167,455,013 (GRCm39) C199S probably damaging Het
Sec24c A C 14: 20,743,813 (GRCm39) D1006A probably damaging Het
Sec63 A G 10: 42,672,204 (GRCm39) T173A probably benign Het
Sfxn5 T C 6: 85,244,847 (GRCm39) probably benign Het
Spam1 A G 6: 24,796,948 (GRCm39) I300V probably benign Het
Spem1 A G 11: 69,712,097 (GRCm39) L189P probably damaging Het
Sptbn2 A T 19: 4,798,151 (GRCm39) R1959* probably null Het
Timeless C T 10: 128,085,929 (GRCm39) R935W probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Trim24 T C 6: 37,896,400 (GRCm39) Y286H possibly damaging Het
Ttyh2 A G 11: 114,601,019 (GRCm39) probably benign Het
Zbtb21 C T 16: 97,753,827 (GRCm39) C180Y probably damaging Het
Zfp746 T C 6: 48,041,833 (GRCm39) T298A 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
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
R7267:Adam19 UTSW 11 46,012,403 (GRCm39) nonsense probably null
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'- AGGCACCCTTTCCCCAAAGTGTTC -3'
(R):5'- ACACTCGCTCTGAAGCCCTGATAG -3'

Sequencing Primer
(F):5'- CCCAAAGTGTTCAGTTGGTGTAAC -3'
(R):5'- ATCCTGGATAGGACTGTCCTGAC -3'
Posted On 2013-09-03