Incidental Mutation 'R6982:Adamtsl3'
ID 542732
Institutional Source Beutler Lab
Gene Symbol Adamtsl3
Ensembl Gene ENSMUSG00000070469
Gene Name ADAMTS-like 3
Synonyms 9230119C12Rik, punctin-2
MMRRC Submission 045383-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6982 (G1)
Quality Score 157.009
Status Validated
Chromosome 7
Chromosomal Location 81984902-82263658 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 82164271 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Histidine at position 362 (P362H)
Ref Sequence ENSEMBL: ENSMUSP00000133637 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000173287] [ENSMUST00000173828]
AlphaFold G3UXC7
Predicted Effect probably damaging
Transcript: ENSMUST00000173287
AA Change: P362H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133637
Gene: ENSMUSG00000070469
AA Change: P362H

DomainStartEndE-ValueType
signal peptide 1 38 N/A INTRINSIC
TSP1 90 136 6.43e-8 SMART
TSP1 355 414 1.59e-1 SMART
TSP1 433 492 3.72e-4 SMART
TSP1 494 547 4.28e-4 SMART
TSP1 579 638 1.85e-2 SMART
TSP1 660 717 1.75e-2 SMART
TSP1 719 773 3.45e-8 SMART
TSP1 775 833 3.67e-3 SMART
TSP1 836 894 8.99e-2 SMART
IGc2 938 1002 7.59e-4 SMART
IG 1213 1296 4.87e0 SMART
IGc2 1326 1388 1.01e-13 SMART
TSP1 1441 1498 1.95e-2 SMART
TSP1 1500 1559 6.76e-2 SMART
TSP1 1616 1666 3.84e-1 SMART
Pfam:PLAC 1674 1704 2.4e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173828
SMART Domains Protein: ENSMUSP00000133337
Gene: ENSMUSG00000070469

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Blast:IG 22 79 1e-26 BLAST
SCOP:d1biha4 27 77 2e-5 SMART
IG 283 366 4.87e0 SMART
IGc2 396 458 1.01e-13 SMART
TSP1 511 568 1.95e-2 SMART
TSP1 570 629 6.76e-2 SMART
TSP1 686 736 3.84e-1 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.7%
Validation Efficiency 98% (55/56)
Allele List at MGI

All alleles(10) : Targeted(7) Gene trapped(2) Spontaneous(1)

Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 T A 13: 70,916,639 (GRCm39) probably null Het
Ambra1 G A 2: 91,747,818 (GRCm39) V1065I probably damaging Het
Ankrd66 T C 17: 43,849,926 (GRCm39) T79A probably damaging Het
Ano2 G A 6: 125,969,856 (GRCm39) R724H probably benign Het
Bmp8a A G 4: 123,218,934 (GRCm39) L158P probably damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Cilp T C 9: 65,187,087 (GRCm39) Y1061H probably damaging Het
Clybl G A 14: 122,639,359 (GRCm39) G308R probably damaging Het
Cntnap5c C T 17: 58,399,247 (GRCm39) P367S possibly damaging Het
Col20a1 T C 2: 180,638,499 (GRCm39) V371A probably benign Het
Col24a1 G T 3: 145,020,807 (GRCm39) G393* probably null Het
Dnah12 A G 14: 26,521,033 (GRCm39) probably null Het
Dnah8 T A 17: 30,986,899 (GRCm39) S3183T probably benign Het
Dph2 A T 4: 117,746,993 (GRCm39) I435N probably benign Het
Fam3c G T 6: 22,322,300 (GRCm39) A107D probably damaging Het
Fezf2 G T 14: 12,343,645 (GRCm38) Q367K probably damaging Het
Gbp2 A G 3: 142,335,846 (GRCm39) D182G probably damaging Het
Gpr162 T A 6: 124,837,919 (GRCm39) I244F probably damaging Het
Jakmip1 A T 5: 37,282,285 (GRCm39) N159I probably damaging Het
Jkampl A T 6: 73,446,527 (GRCm39) Y7* probably null Het
Kdm4a A T 4: 118,010,636 (GRCm39) probably null Het
Klf5 A G 14: 99,550,671 (GRCm39) H416R probably damaging Het
Lrrc63 A G 14: 75,322,211 (GRCm39) V631A probably benign Het
Man1a T C 10: 53,950,819 (GRCm39) E101G possibly damaging Het
Msantd4 T A 9: 4,384,061 (GRCm39) N127K possibly damaging Het
Myo3b A T 2: 70,256,409 (GRCm39) E1248D probably benign Het
Ncapd2 A T 6: 125,153,699 (GRCm39) I672N probably damaging Het
Nfic T C 10: 81,256,634 (GRCm39) probably null Het
Nr1h3 A G 2: 91,021,104 (GRCm39) S228P probably damaging Het
Or8g32 T C 9: 39,305,618 (GRCm39) I174T probably damaging Het
Pccb A T 9: 100,905,349 (GRCm39) probably null Het
Pcmtd1 T G 1: 7,217,906 (GRCm39) V118G probably damaging Het
Pkhd1l1 A T 15: 44,429,664 (GRCm39) N3294I probably damaging Het
Plscr4 A G 9: 92,364,796 (GRCm39) T74A probably benign Het
Rasa2 A T 9: 96,442,803 (GRCm39) I540N probably damaging Het
Serpina3j C A 12: 104,283,556 (GRCm39) T218K probably benign Het
Slc16a4 A G 3: 107,206,589 (GRCm39) D173G probably benign Het
Slc19a2 T C 1: 164,084,428 (GRCm39) L106P possibly damaging Het
Slc22a19 C T 19: 7,660,334 (GRCm39) V359M probably benign Het
Slc22a7 T A 17: 46,745,563 (GRCm39) M323L probably benign Het
Spata21 A T 4: 140,824,184 (GRCm39) N149I possibly damaging Het
Spink5 G A 18: 44,110,792 (GRCm39) G121D probably damaging Het
Spink5 T C 18: 44,143,109 (GRCm39) probably null Het
Ssbp4 T C 8: 71,060,815 (GRCm39) S6G possibly damaging Het
Sytl2 T C 7: 90,045,772 (GRCm39) S641P probably damaging Het
Tcf3 A T 10: 80,253,384 (GRCm39) F215I probably damaging Het
Tmem150c C A 5: 100,240,680 (GRCm39) D61Y probably benign Het
Ttc7 T A 17: 87,614,437 (GRCm39) F201I probably damaging Het
Tyw3 T C 3: 154,285,867 (GRCm39) I208V probably benign Het
Vmn1r202 T C 13: 22,685,917 (GRCm39) T167A probably benign Het
Vmn1r83 A T 7: 12,055,763 (GRCm39) L98Q probably damaging Het
Vmn2r95 T C 17: 18,672,323 (GRCm39) Y687H probably damaging Het
Wdr59 A T 8: 112,187,445 (GRCm39) F783L probably benign Het
Zfhx4 A G 3: 5,468,890 (GRCm39) Y3016C probably damaging Het
Zfp518b T C 5: 38,830,248 (GRCm39) T586A probably benign Het
Other mutations in Adamtsl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01549:Adamtsl3 APN 7 82,261,656 (GRCm39) missense probably damaging 1.00
IGL01936:Adamtsl3 APN 7 82,244,579 (GRCm39) missense possibly damaging 0.93
IGL02819:Adamtsl3 APN 7 82,223,329 (GRCm39) missense probably damaging 0.99
P0012:Adamtsl3 UTSW 7 82,223,465 (GRCm39) missense probably benign 0.27
R0096:Adamtsl3 UTSW 7 82,114,907 (GRCm39) intron probably benign
R0096:Adamtsl3 UTSW 7 82,114,907 (GRCm39) intron probably benign
R0180:Adamtsl3 UTSW 7 82,225,198 (GRCm39) missense probably benign 0.00
R0270:Adamtsl3 UTSW 7 82,206,032 (GRCm39) missense probably damaging 1.00
R0295:Adamtsl3 UTSW 7 82,197,213 (GRCm39) critical splice donor site probably null
R0329:Adamtsl3 UTSW 7 82,171,198 (GRCm39) missense probably damaging 1.00
R0330:Adamtsl3 UTSW 7 82,171,198 (GRCm39) missense probably damaging 1.00
R0548:Adamtsl3 UTSW 7 82,178,191 (GRCm39) critical splice donor site probably null
R0611:Adamtsl3 UTSW 7 82,178,120 (GRCm39) missense probably damaging 1.00
R0671:Adamtsl3 UTSW 7 82,172,390 (GRCm39) missense probably damaging 1.00
R0711:Adamtsl3 UTSW 7 82,114,907 (GRCm39) intron probably benign
R0845:Adamtsl3 UTSW 7 82,225,204 (GRCm39) missense probably damaging 1.00
R1119:Adamtsl3 UTSW 7 82,189,525 (GRCm39) missense probably damaging 0.96
R1458:Adamtsl3 UTSW 7 82,172,528 (GRCm39) missense probably damaging 1.00
R1644:Adamtsl3 UTSW 7 82,099,298 (GRCm39) missense possibly damaging 0.87
R1691:Adamtsl3 UTSW 7 82,148,814 (GRCm39) missense probably damaging 1.00
R1838:Adamtsl3 UTSW 7 82,142,581 (GRCm39) missense probably damaging 1.00
R2131:Adamtsl3 UTSW 7 82,227,802 (GRCm39) missense probably damaging 1.00
R2245:Adamtsl3 UTSW 7 82,099,308 (GRCm39) missense probably damaging 1.00
R2274:Adamtsl3 UTSW 7 82,255,766 (GRCm39) missense probably benign 0.37
R2275:Adamtsl3 UTSW 7 82,255,766 (GRCm39) missense probably benign 0.37
R2448:Adamtsl3 UTSW 7 82,148,956 (GRCm39) missense probably damaging 1.00
R3725:Adamtsl3 UTSW 7 82,261,612 (GRCm39) missense possibly damaging 0.80
R3757:Adamtsl3 UTSW 7 81,986,415 (GRCm39) missense probably benign 0.01
R3821:Adamtsl3 UTSW 7 82,255,687 (GRCm39) splice site probably benign
R4618:Adamtsl3 UTSW 7 82,255,728 (GRCm39) missense probably benign 0.41
R4842:Adamtsl3 UTSW 7 82,178,069 (GRCm39) missense probably damaging 1.00
R4887:Adamtsl3 UTSW 7 82,223,822 (GRCm39) missense possibly damaging 0.87
R4888:Adamtsl3 UTSW 7 82,223,822 (GRCm39) missense possibly damaging 0.87
R4925:Adamtsl3 UTSW 7 82,251,507 (GRCm39) critical splice donor site probably null
R4960:Adamtsl3 UTSW 7 82,216,185 (GRCm39) missense probably damaging 0.99
R5026:Adamtsl3 UTSW 7 82,225,262 (GRCm39) missense probably benign 0.07
R5152:Adamtsl3 UTSW 7 82,223,752 (GRCm39) missense probably benign 0.11
R5198:Adamtsl3 UTSW 7 82,261,006 (GRCm39) missense possibly damaging 0.63
R5244:Adamtsl3 UTSW 7 82,247,277 (GRCm39) missense probably benign 0.02
R5281:Adamtsl3 UTSW 7 82,178,142 (GRCm39) missense probably damaging 1.00
R5323:Adamtsl3 UTSW 7 82,206,269 (GRCm39) missense probably damaging 1.00
R5523:Adamtsl3 UTSW 7 82,223,650 (GRCm39) missense possibly damaging 0.86
R5602:Adamtsl3 UTSW 7 82,206,447 (GRCm39) missense possibly damaging 0.89
R5638:Adamtsl3 UTSW 7 82,260,958 (GRCm39) missense probably damaging 0.99
R5682:Adamtsl3 UTSW 7 82,255,758 (GRCm39) missense probably damaging 0.99
R5782:Adamtsl3 UTSW 7 82,189,494 (GRCm39) splice site probably null
R5946:Adamtsl3 UTSW 7 82,225,265 (GRCm39) missense probably damaging 0.98
R6091:Adamtsl3 UTSW 7 82,114,829 (GRCm39) missense probably damaging 1.00
R6258:Adamtsl3 UTSW 7 82,178,191 (GRCm39) critical splice donor site probably null
R6500:Adamtsl3 UTSW 7 82,227,818 (GRCm39) missense probably benign 0.00
R6765:Adamtsl3 UTSW 7 82,216,232 (GRCm39) missense possibly damaging 0.60
R6785:Adamtsl3 UTSW 7 82,171,212 (GRCm39) missense probably damaging 0.99
R7109:Adamtsl3 UTSW 7 82,261,069 (GRCm39) missense
R7341:Adamtsl3 UTSW 7 82,206,082 (GRCm39) missense probably damaging 1.00
R7402:Adamtsl3 UTSW 7 82,227,825 (GRCm39) missense probably damaging 0.96
R7506:Adamtsl3 UTSW 7 82,164,186 (GRCm39) missense probably damaging 1.00
R7549:Adamtsl3 UTSW 7 82,223,117 (GRCm39) missense probably damaging 1.00
R7575:Adamtsl3 UTSW 7 82,223,756 (GRCm39) missense possibly damaging 0.85
R7592:Adamtsl3 UTSW 7 81,986,459 (GRCm39) missense probably benign 0.00
R7617:Adamtsl3 UTSW 7 82,206,054 (GRCm39) splice site probably null
R7654:Adamtsl3 UTSW 7 82,223,702 (GRCm39) missense probably benign
R7721:Adamtsl3 UTSW 7 82,255,728 (GRCm39) missense possibly damaging 0.62
R7784:Adamtsl3 UTSW 7 82,223,197 (GRCm39) missense probably damaging 1.00
R7858:Adamtsl3 UTSW 7 82,099,371 (GRCm39) missense probably damaging 1.00
R8109:Adamtsl3 UTSW 7 82,251,487 (GRCm39) missense possibly damaging 0.94
R8125:Adamtsl3 UTSW 7 82,099,541 (GRCm39) splice site probably null
R8211:Adamtsl3 UTSW 7 82,172,371 (GRCm39) missense probably damaging 1.00
R8348:Adamtsl3 UTSW 7 82,253,007 (GRCm39) missense possibly damaging 0.89
R8360:Adamtsl3 UTSW 7 82,197,187 (GRCm39) missense probably damaging 1.00
R8448:Adamtsl3 UTSW 7 82,253,007 (GRCm39) missense possibly damaging 0.89
R8465:Adamtsl3 UTSW 7 82,247,330 (GRCm39) missense probably benign 0.43
R8547:Adamtsl3 UTSW 7 82,077,621 (GRCm39) missense probably damaging 1.00
R8551:Adamtsl3 UTSW 7 82,189,678 (GRCm39) missense probably benign 0.34
R8558:Adamtsl3 UTSW 7 82,077,600 (GRCm39) missense possibly damaging 0.59
R8709:Adamtsl3 UTSW 7 82,077,642 (GRCm39) missense possibly damaging 0.94
R8722:Adamtsl3 UTSW 7 82,244,745 (GRCm39) critical splice donor site probably null
R8930:Adamtsl3 UTSW 7 82,261,069 (GRCm39) missense
R8932:Adamtsl3 UTSW 7 82,261,069 (GRCm39) missense
R9131:Adamtsl3 UTSW 7 82,244,722 (GRCm39) missense probably benign 0.00
R9169:Adamtsl3 UTSW 7 82,223,188 (GRCm39) missense probably damaging 0.99
R9272:Adamtsl3 UTSW 7 82,189,753 (GRCm39) missense probably damaging 1.00
R9276:Adamtsl3 UTSW 7 82,206,710 (GRCm39) intron probably benign
R9351:Adamtsl3 UTSW 7 82,169,929 (GRCm39) missense possibly damaging 0.94
R9352:Adamtsl3 UTSW 7 82,091,656 (GRCm39) missense probably damaging 1.00
R9749:Adamtsl3 UTSW 7 82,099,394 (GRCm39) missense probably benign 0.04
R9750:Adamtsl3 UTSW 7 82,244,589 (GRCm39) missense probably benign 0.11
RF005:Adamtsl3 UTSW 7 82,261,603 (GRCm39) missense
X0003:Adamtsl3 UTSW 7 82,260,967 (GRCm39) nonsense probably null
X0063:Adamtsl3 UTSW 7 82,223,365 (GRCm39) missense probably benign 0.25
Z1088:Adamtsl3 UTSW 7 82,189,533 (GRCm39) missense probably damaging 1.00
Z1088:Adamtsl3 UTSW 7 82,148,922 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGGGGCAAGTCTGAGTGAC -3'
(R):5'- GCACTTGGATTATACTTGACCCC -3'

Sequencing Primer
(F):5'- GAGTGACAGGCTATCCTATCTAAAGC -3'
(R):5'- TTGGATTATACTTGACCCCAAACC -3'
Posted On 2018-11-28