Incidental Mutation 'R0881:Adam10'
ID 80560
Institutional Source Beutler Lab
Gene Symbol Adam10
Ensembl Gene ENSMUSG00000054693
Gene Name a disintegrin and metallopeptidase domain 10
Synonyms kuzbanian, 1700031C13Rik, kuz
MMRRC Submission 039048-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0881 (G1)
Quality Score 191
Status Validated
Chromosome 9
Chromosomal Location 70586279-70687511 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70653519 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 248 (S248P)
Ref Sequence ENSEMBL: ENSMUSP00000117162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067880] [ENSMUST00000140205] [ENSMUST00000144537]
AlphaFold O35598
Predicted Effect probably damaging
Transcript: ENSMUST00000067880
AA Change: S248P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000063839
Gene: ENSMUSG00000054693
AA Change: S248P

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Pep_M12B_propep 27 156 7.5e-15 PFAM
Pfam:Reprolysin_5 219 434 1e-33 PFAM
Pfam:Reprolysin_4 219 453 2.1e-29 PFAM
Pfam:Reprolysin 221 457 6.1e-8 PFAM
Pfam:Reprolysin_2 240 447 6.5e-39 PFAM
Pfam:Reprolysin_3 244 395 4.6e-27 PFAM
DISIN 467 551 5.99e-23 SMART
transmembrane domain 675 697 N/A INTRINSIC
low complexity region 709 739 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000140205
AA Change: S248P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117162
Gene: ENSMUSG00000054693
AA Change: S248P

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Pep_M12B_propep 26 156 5.8e-18 PFAM
Pfam:Reprolysin_5 219 434 2.6e-34 PFAM
Pfam:Reprolysin_4 219 453 4e-30 PFAM
Pfam:Reprolysin 221 457 4.4e-10 PFAM
Pfam:Reprolysin_2 240 447 5.1e-36 PFAM
Pfam:Reprolysin_3 244 395 1.7e-24 PFAM
DISIN 467 513 1.48e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000144537
AA Change: S105P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116867
Gene: ENSMUSG00000054693
AA Change: S105P

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Reprolysin_5 76 145 5.8e-9 PFAM
Meta Mutation Damage Score 0.8194 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.9%
  • 10x: 97.0%
  • 20x: 93.0%
Validation Efficiency 96% (51/53)
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. The encoded preproprotein undergoes proteolytic processing to generate a mature enzyme that is involved in the proteolytic release of membrane-bound proteins in a process called ectodomain shedding. Mice lacking the encoded protein die in utero with multiple defects of the developing central nervous system, somites, and cardiovascular system. [provided by RefSeq, May 2016]
PHENOTYPE: Targeted inactivation of this gene leads to embryonic lethality at E9.5. Embryos homozygous for a knock-out allele display decreased size and multiple abnormalities related to Notch signaling, including defects of the developing central nervous system, somites, and cardiovascular system. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh G A 5: 77,024,130 (GRCm39) T174M probably damaging Het
Abcc9 T A 6: 142,592,029 (GRCm39) I732F probably damaging Het
Adam18 A T 8: 25,162,159 (GRCm39) probably benign Het
Angel2 G A 1: 190,669,661 (GRCm39) E114K probably damaging Het
Arhgap29 A G 3: 121,808,328 (GRCm39) T1169A probably damaging Het
Atp13a2 T A 4: 140,731,242 (GRCm39) M759K probably damaging Het
Atxn2l A G 7: 126,095,768 (GRCm39) S450P probably damaging Het
B3glct T A 5: 149,663,034 (GRCm39) V264E probably damaging Het
Bbx A G 16: 50,040,963 (GRCm39) probably benign Het
Bmp3 A G 5: 99,020,461 (GRCm39) N295D possibly damaging Het
C9 G A 15: 6,488,349 (GRCm39) probably benign Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Cdan1 A T 2: 120,551,466 (GRCm39) V1039E probably damaging Het
Dennd4a T C 9: 64,758,665 (GRCm39) probably null Het
Ext1 A G 15: 53,207,879 (GRCm39) L294P probably benign Het
Fsip2 C A 2: 82,816,617 (GRCm39) H4117N possibly damaging Het
Itga8 C T 2: 12,267,003 (GRCm39) probably null Het
Itln1 G T 1: 171,360,949 (GRCm39) H48N probably benign Het
Kcna5 T A 6: 126,511,957 (GRCm39) H57L probably benign Het
Klhdc4 A T 8: 122,526,226 (GRCm39) Y304* probably null Het
Klhl25 A G 7: 75,516,027 (GRCm39) Y6C probably damaging Het
Lars1 C T 18: 42,347,851 (GRCm39) V991M probably benign Het
Med20 T C 17: 47,922,605 (GRCm39) M1T probably null Het
Mslnl A T 17: 25,961,939 (GRCm39) H138L possibly damaging Het
Mycbp2 T C 14: 103,457,449 (GRCm39) I1583V probably benign Het
Nipbl A C 15: 8,337,096 (GRCm39) V2093G probably damaging Het
Nup98 T A 7: 101,809,923 (GRCm39) T536S probably damaging Het
Opalin T C 19: 41,052,420 (GRCm39) probably null Het
Or1j12 T G 2: 36,343,452 (GRCm39) L285R probably damaging Het
Or51d1 T A 7: 102,348,291 (GRCm39) V282D possibly damaging Het
Or8g26 A G 9: 39,095,984 (GRCm39) K170R probably benign Het
Pgm2 A T 5: 64,250,351 (GRCm39) T9S unknown Het
Piwil2 A C 14: 70,646,376 (GRCm39) S387A probably benign Het
Polr1c T C 17: 46,555,539 (GRCm39) T240A possibly damaging Het
Polr3c A G 3: 96,631,163 (GRCm39) M118T probably damaging Het
Pth1r C T 9: 110,560,641 (GRCm39) C42Y probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rictor A T 15: 6,821,151 (GRCm39) M1492L probably benign Het
Rrbp1 T A 2: 143,795,173 (GRCm39) Y1277F probably benign Het
Scgb3a2 T G 18: 43,897,549 (GRCm39) probably benign Het
Skint1 G A 4: 111,886,054 (GRCm39) S327N probably benign Het
Steap4 A T 5: 8,030,388 (GRCm39) S415C probably benign Het
Tex48 A G 4: 63,530,228 (GRCm39) probably benign Het
Tox2 T A 2: 163,163,365 (GRCm39) S502T probably benign Het
Usp47 T A 7: 111,690,643 (GRCm39) I762K possibly damaging Het
Vmn2r53 T C 7: 12,334,859 (GRCm39) H267R probably benign Het
Wnt2b A G 3: 104,860,513 (GRCm39) probably benign Het
Xirp1 T C 9: 119,847,483 (GRCm39) N28D possibly damaging Het
Zeb1 T C 18: 5,767,138 (GRCm39) S550P probably benign Het
Other mutations in Adam10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00570:Adam10 APN 9 70,626,028 (GRCm39) missense possibly damaging 0.92
IGL00582:Adam10 APN 9 70,674,177 (GRCm39) missense possibly damaging 0.54
IGL02021:Adam10 APN 9 70,651,191 (GRCm39) missense possibly damaging 0.60
IGL02149:Adam10 APN 9 70,610,713 (GRCm39) missense probably damaging 1.00
IGL03310:Adam10 APN 9 70,685,371 (GRCm39) missense probably damaging 1.00
PIT4382001:Adam10 UTSW 9 70,673,363 (GRCm39) missense probably damaging 1.00
R0110:Adam10 UTSW 9 70,655,530 (GRCm39) missense probably damaging 1.00
R0469:Adam10 UTSW 9 70,655,530 (GRCm39) missense probably damaging 1.00
R0510:Adam10 UTSW 9 70,655,530 (GRCm39) missense probably damaging 1.00
R0555:Adam10 UTSW 9 70,661,516 (GRCm39) missense probably damaging 1.00
R0671:Adam10 UTSW 9 70,673,223 (GRCm39) splice site probably benign
R0735:Adam10 UTSW 9 70,655,533 (GRCm39) missense possibly damaging 0.81
R0785:Adam10 UTSW 9 70,675,170 (GRCm39) missense possibly damaging 0.86
R1019:Adam10 UTSW 9 70,668,922 (GRCm39) missense probably benign 0.00
R1169:Adam10 UTSW 9 70,653,574 (GRCm39) missense probably damaging 0.97
R1779:Adam10 UTSW 9 70,683,651 (GRCm39) splice site probably benign
R2048:Adam10 UTSW 9 70,647,357 (GRCm39) missense possibly damaging 0.89
R2911:Adam10 UTSW 9 70,626,005 (GRCm39) missense probably damaging 0.99
R3890:Adam10 UTSW 9 70,676,136 (GRCm39) missense probably benign 0.00
R4608:Adam10 UTSW 9 70,651,173 (GRCm39) missense probably damaging 0.99
R4609:Adam10 UTSW 9 70,647,425 (GRCm39) missense probably damaging 1.00
R4689:Adam10 UTSW 9 70,673,236 (GRCm39) missense possibly damaging 0.51
R5135:Adam10 UTSW 9 70,673,356 (GRCm39) missense probably damaging 1.00
R5496:Adam10 UTSW 9 70,630,021 (GRCm39) missense probably damaging 1.00
R5499:Adam10 UTSW 9 70,647,399 (GRCm39) missense probably benign 0.16
R6730:Adam10 UTSW 9 70,647,458 (GRCm39) critical splice donor site probably null
R6825:Adam10 UTSW 9 70,668,884 (GRCm39) missense probably damaging 1.00
R6987:Adam10 UTSW 9 70,629,978 (GRCm39) missense probably benign
R7616:Adam10 UTSW 9 70,629,993 (GRCm39) missense possibly damaging 0.81
R7829:Adam10 UTSW 9 70,674,209 (GRCm39) nonsense probably null
R7908:Adam10 UTSW 9 70,669,046 (GRCm39) missense possibly damaging 0.83
R8445:Adam10 UTSW 9 70,674,203 (GRCm39) missense probably benign 0.00
R8447:Adam10 UTSW 9 70,655,400 (GRCm39) missense probably damaging 0.97
R8690:Adam10 UTSW 9 70,655,505 (GRCm39) missense probably damaging 1.00
R8970:Adam10 UTSW 9 70,655,458 (GRCm39) missense probably benign 0.08
X0020:Adam10 UTSW 9 70,647,425 (GRCm39) missense probably damaging 1.00
X0064:Adam10 UTSW 9 70,673,234 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AGTATCCACTCTGTCCTAGCTCACTCA -3'
(R):5'- GAATAACAAGTCGGGCACACCCA -3'

Sequencing Primer
(F):5'- ACTCATCTTTTCCATTCTGTACAAC -3'
(R):5'- gcaagcacagccaatgag -3'
Posted On 2013-11-07