Incidental Mutation 'R7213:Adam19'
ID 561230
Institutional Source Beutler Lab
Gene Symbol Adam19
Ensembl Gene ENSMUSG00000011256
Gene Name ADAM metallopeptidase domain 19
Synonyms Mltnb
MMRRC Submission 045341-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7213 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 45946819-46038170 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 46012298 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 265 (T265S)
Ref Sequence ENSEMBL: ENSMUSP00000011400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011400]
AlphaFold O35674
Predicted Effect probably benign
Transcript: ENSMUST00000011400
AA Change: T265S

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000011400
Gene: ENSMUSG00000011256
AA Change: T265S

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
Meta Mutation Damage Score 0.2910 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik G T 9: 124,056,530 (GRCm39) Y131* probably null Het
2310009B15Rik A T 1: 138,781,367 (GRCm39) V94D probably damaging Het
Actr1b T A 1: 36,741,221 (GRCm39) N120I probably damaging Het
Adam17 A T 12: 21,386,679 (GRCm39) Y452* probably null Het
Adgrb1 A G 15: 74,441,733 (GRCm39) T945A probably benign Het
Bpifa5 G A 2: 154,007,903 (GRCm39) V182M possibly damaging Het
Celsr3 C T 9: 108,726,239 (GRCm39) T3156I probably damaging Het
Cntrl A G 2: 35,025,692 (GRCm39) M674V possibly damaging Het
Cry2 C T 2: 92,244,004 (GRCm39) V390I probably benign Het
Cspg4b T A 13: 113,454,475 (GRCm39) F174I Het
Cwc25 G T 11: 97,644,855 (GRCm39) Q168K probably benign Het
Dcbld2 C T 16: 58,271,126 (GRCm39) A301V probably benign Het
Dclre1a T C 19: 56,518,067 (GRCm39) Y1004C probably damaging Het
Ddhd1 A C 14: 45,895,210 (GRCm39) S87A probably benign Het
Ear1 A G 14: 44,056,611 (GRCm39) C86R probably damaging Het
Epha5 T C 5: 84,381,782 (GRCm39) probably null Het
Fat2 A T 11: 55,171,871 (GRCm39) Y2947* probably null Het
Fat4 G A 3: 39,053,236 (GRCm39) V4077M possibly damaging Het
Fbxl12 A T 9: 20,550,304 (GRCm39) V140E probably damaging Het
Fbxo16 A G 14: 65,536,868 (GRCm39) probably null Het
Fto A T 8: 92,118,135 (GRCm39) Q29L probably benign Het
Gk5 C T 9: 96,027,765 (GRCm39) T200M probably damaging Het
Gm5916 C T 9: 36,039,946 (GRCm39) G14E possibly damaging Het
Gm9972 A T 11: 42,927,235 (GRCm39) probably benign Het
Gpr139 T A 7: 118,744,322 (GRCm39) M88L probably benign Het
Gpr26 T C 7: 131,569,219 (GRCm39) L188P probably damaging Het
H2ac4 G T 13: 23,935,146 (GRCm39) A11S unknown Het
Hbp1 A T 12: 31,987,196 (GRCm39) S219T probably benign Het
Hr A T 14: 70,795,790 (GRCm39) E445V probably damaging Het
Il12rb1 A G 8: 71,269,097 (GRCm39) K426E probably benign Het
Itgbl1 G A 14: 124,210,709 (GRCm39) C469Y probably damaging Het
Kdm2b A T 5: 123,059,532 (GRCm39) N523K probably damaging Het
Kptn A G 7: 15,854,704 (GRCm39) N125S possibly damaging Het
Krt17 T C 11: 100,149,356 (GRCm39) N238S probably benign Het
Lemd3 G A 10: 120,814,145 (GRCm39) R363* probably null Het
Mmrn1 G A 6: 60,921,527 (GRCm39) probably benign Het
Mtus1 T C 8: 41,537,524 (GRCm39) D64G probably damaging Het
Muc16 A G 9: 18,552,712 (GRCm39) V4527A probably benign Het
Naip2 T A 13: 100,323,991 (GRCm39) D193V probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nf1 A G 11: 79,360,645 (GRCm39) H1462R probably benign Het
Or2n1b T C 17: 38,459,965 (GRCm39) V162A probably benign Het
Or5ak20 A T 2: 85,183,900 (GRCm39) Y123* probably null Het
Pappa2 T A 1: 158,764,456 (GRCm39) T352S possibly damaging Het
Pcnt A G 10: 76,244,738 (GRCm39) L1114P probably damaging Het
Pde6b T C 5: 108,551,956 (GRCm39) Y212H probably damaging Het
Pik3c2g A T 6: 139,805,990 (GRCm39) I604F Het
Pld2 A G 11: 70,444,198 (GRCm39) D498G probably benign Het
Prag1 A T 8: 36,613,769 (GRCm39) Q1107L probably damaging Het
Pwp1 A T 10: 85,712,173 (GRCm39) I110F probably benign Het
Rims4 C T 2: 163,705,981 (GRCm39) V218I probably benign Het
Rnf10 C T 5: 115,380,532 (GRCm39) S754N probably damaging Het
Rnf10 T C 5: 115,380,533 (GRCm39) S754G probably damaging Het
Sel1l2 A T 2: 140,086,055 (GRCm39) V512E probably damaging Het
Shank2 T A 7: 143,585,146 (GRCm39) M49K probably benign Het
Sipa1 T C 19: 5,710,551 (GRCm39) D153G probably damaging Het
Slc46a2 C T 4: 59,914,279 (GRCm39) V215I possibly damaging Het
Slco6c1 G A 1: 97,055,671 (GRCm39) L77F probably benign Het
Smarca2 T C 19: 26,624,531 (GRCm39) L397P possibly damaging Het
Spg7 C T 8: 123,816,971 (GRCm39) A554V probably damaging Het
Stab1 T A 14: 30,865,630 (GRCm39) M1753L probably benign Het
Stk11 A G 10: 79,952,452 (GRCm39) M1V probably null Het
Supt6 C A 11: 78,122,976 (GRCm39) G136C probably damaging Het
Svil G T 18: 5,094,574 (GRCm39) R1418L probably damaging Het
Tfg A G 16: 56,521,516 (GRCm39) S167P probably benign Het
Timeless T C 10: 128,079,158 (GRCm39) V335A probably benign Het
Tll2 C A 19: 41,108,666 (GRCm39) R328L probably damaging Het
Tomm7 T C 5: 24,049,059 (GRCm39) S5G possibly damaging Het
Ttc39c G A 18: 12,820,138 (GRCm39) probably null Het
Ttn T C 2: 76,556,105 (GRCm39) E30300G probably benign Het
Tuba4a A T 1: 75,192,341 (GRCm39) D452E possibly damaging Het
Tubgcp2 T C 7: 139,587,927 (GRCm39) I233V probably benign Het
Tubgcp5 T A 7: 55,455,860 (GRCm39) V296E probably damaging Het
Vmn2r53 T C 7: 12,334,983 (GRCm39) S226G probably benign Het
Xrcc6 T C 15: 81,901,027 (GRCm39) probably benign Het
Zfhx4 C A 3: 5,461,704 (GRCm39) D1192E probably benign Het
Zfp180 G T 7: 23,803,938 (GRCm39) W119L possibly damaging Het
Zfp3 A G 11: 70,663,351 (GRCm39) I437V probably benign Het
Zfp616 A T 11: 73,976,689 (GRCm39) Q986L probably benign Het
Zfp937 T A 2: 150,081,385 (GRCm39) C472S 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
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'- GTTTGACCACCAGAATGCATCC -3'
(R):5'- ACATTGGCCCCTGTGAAAGG -3'

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