Incidental Mutation 'R7908:Adam10'
ID 610290
Institutional Source Beutler Lab
Gene Symbol Adam10
Ensembl Gene ENSMUSG00000054693
Gene Name a disintegrin and metallopeptidase domain 10
Synonyms kuzbanian, 1700031C13Rik, kuz
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7908 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 70586279-70687511 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 70669046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 454 (V454G)
Ref Sequence ENSEMBL: ENSMUSP00000063839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067880] [ENSMUST00000140205]
AlphaFold O35598
Predicted Effect possibly damaging
Transcript: ENSMUST00000067880
AA Change: V454G

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000063839
Gene: ENSMUSG00000054693
AA Change: V454G

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: V454G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117162
Gene: ENSMUSG00000054693
AA Change: V454G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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. 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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt A G 15: 83,112,577 (GRCm39) F69L probably benign Het
Acsf3 A G 8: 123,512,562 (GRCm39) M328V probably damaging Het
Adamts15 T C 9: 30,813,522 (GRCm39) D881G probably benign Het
Adamtsl1 T C 4: 86,274,676 (GRCm39) V1244A probably benign Het
Ankfn1 G A 11: 89,296,360 (GRCm39) P123L probably damaging Het
Aox1 T C 1: 58,145,227 (GRCm39) I1331T possibly damaging Het
Atg14 T A 14: 47,806,050 (GRCm39) probably benign Het
Bmal1 A T 7: 112,912,680 (GRCm39) I579L probably benign Het
Btnl4 A G 17: 34,692,161 (GRCm39) M147T possibly damaging Het
Camk1g T C 1: 193,042,082 (GRCm39) K56E probably damaging Het
Capn7 T C 14: 31,088,202 (GRCm39) probably null Het
Cbln1 T A 8: 88,198,724 (GRCm39) T49S probably benign Het
Cc2d2a T C 5: 43,864,188 (GRCm39) V763A probably benign Het
Cdc40 A G 10: 40,724,042 (GRCm39) Y249H probably damaging Het
Cfap61 T A 2: 145,944,019 (GRCm39) L762H probably damaging Het
Cfap68 T A 9: 50,675,248 (GRCm39) T153S possibly damaging Het
Cfap73 T C 5: 120,768,123 (GRCm39) T212A probably benign Het
Cfi A G 3: 129,642,233 (GRCm39) E29G probably benign Het
Chmp6 A T 11: 119,804,656 (GRCm39) probably benign Het
Clec14a T C 12: 58,314,465 (GRCm39) T386A possibly damaging Het
Coq6 T A 12: 84,417,940 (GRCm39) L268H probably damaging Het
Cpt1a T C 19: 3,412,202 (GRCm39) S225P probably benign Het
Dhx58 C A 11: 100,586,130 (GRCm39) L630F probably damaging Het
Dlg2 T A 7: 91,549,981 (GRCm39) V158E probably damaging Het
Fcgbpl1 A T 7: 27,846,921 (GRCm39) Y1168F probably benign Het
Foxd3 A G 4: 99,545,576 (GRCm39) T239A probably benign Het
Galnt6 T C 15: 100,601,242 (GRCm39) T346A probably damaging Het
Guca1b C G 17: 47,702,102 (GRCm39) T185S unknown Het
H2-M5 T C 17: 37,298,571 (GRCm39) T292A probably benign Het
Hlx T C 1: 184,459,773 (GRCm39) H455R probably benign Het
Hydin A G 8: 111,237,499 (GRCm39) Y1924C probably benign Het
Ighg2b C T 12: 113,270,074 (GRCm39) V315M Het
Ildr2 A G 1: 166,135,369 (GRCm39) K374E probably damaging Het
Jmjd1c T C 10: 67,061,621 (GRCm39) S1144P probably benign Het
Kcnj8 T C 6: 142,511,755 (GRCm39) D284G probably benign Het
Kri1 TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTCCTCCTCCTC 9: 21,192,352 (GRCm39) probably benign Het
Lingo4 A G 3: 94,309,541 (GRCm39) T160A probably benign Het
Lmod3 G T 6: 97,225,434 (GRCm39) A129E probably benign Het
Lrrk2 T C 15: 91,610,355 (GRCm39) C696R probably damaging Het
Mc2r A G 18: 68,541,036 (GRCm39) F86L probably benign Het
Mppe1 T G 18: 67,362,055 (GRCm39) K170T probably benign Het
Mtcl1 A G 17: 66,678,325 (GRCm39) I667T possibly damaging Het
Mtnr1a A T 8: 45,540,863 (GRCm39) I275F probably benign Het
Myh2 A G 11: 67,088,197 (GRCm39) I1938V probably benign Het
Npsr1 A T 9: 24,201,096 (GRCm39) E160V probably damaging Het
Or13c7b T A 4: 43,821,086 (GRCm39) I92F probably damaging Het
Or5ac23 C T 16: 59,149,606 (GRCm39) D89N possibly damaging Het
Or6c3 T A 10: 129,308,867 (GRCm39) I102N probably damaging Het
Ovch2 T A 7: 107,388,326 (GRCm39) Y418F probably damaging Het
Pak5 A G 2: 135,958,479 (GRCm39) L203S probably benign Het
Pcdh15 A T 10: 74,479,414 (GRCm39) E508D probably benign Het
Prl7a1 T C 13: 27,826,433 (GRCm39) M1V probably null Het
Prorp A T 12: 55,426,250 (GRCm39) K533N possibly damaging Het
Prpsap2 G T 11: 61,647,098 (GRCm39) N14K possibly damaging Het
Rad54b T A 4: 11,595,868 (GRCm39) V215E probably null Het
Ryr2 G A 13: 11,807,634 (GRCm39) T845I probably benign Het
Scgb2b3 G A 7: 31,061,439 (GRCm39) T20I probably damaging Het
Serpina1b T C 12: 103,694,566 (GRCm39) I393V possibly damaging Het
Slc13a5 T C 11: 72,149,890 (GRCm39) M207V probably benign Het
Slc49a3 T C 5: 108,592,363 (GRCm39) I276V probably benign Het
Smg1 A T 7: 117,785,357 (GRCm39) L843M unknown Het
Sp100 T C 1: 85,635,788 (GRCm39) V531A possibly damaging Het
Srsf6 T C 2: 162,775,760 (GRCm39) S190P unknown Het
Stil A G 4: 114,889,896 (GRCm39) K795E possibly damaging Het
Sugp2 A G 8: 70,704,577 (GRCm39) R705G probably benign Het
Tnfrsf11a T A 1: 105,737,099 (GRCm39) C69S probably damaging Het
Trim30a A T 7: 104,070,656 (GRCm39) N252K probably benign Het
Tshz1 T A 18: 84,032,732 (GRCm39) K559* probably null Het
Ttbk1 C T 17: 46,789,864 (GRCm39) R133H probably damaging Het
Vmn1r1 T C 1: 181,984,915 (GRCm39) Y250C probably benign Het
Vmn2r12 A G 5: 109,234,307 (GRCm39) L635P probably damaging Het
Vmn2r52 C A 7: 9,896,877 (GRCm39) V532L probably benign Het
Vwa5b1 A T 4: 138,296,481 (GRCm39) L1182* probably null Het
Washc2 A G 6: 116,225,106 (GRCm39) D818G probably benign Het
Xylb T G 9: 119,210,611 (GRCm39) S365A probably benign Het
Zcchc8 T C 5: 123,858,783 (GRCm39) probably benign Het
Zdbf2 T C 1: 63,345,986 (GRCm39) I1455T possibly damaging 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
R0881:Adam10 UTSW 9 70,653,519 (GRCm39) missense probably damaging 1.00
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
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'- GTTTGGCAGCATGATTCTGGAAC -3'
(R):5'- GGAACTGAGTGGCCTCTTAC -3'

Sequencing Primer
(F):5'- TGGAACAGAGTGTACTCCAGG -3'
(R):5'- CTCAGGGGAAAGGTGCTTACC -3'
Posted On 2019-12-20