Incidental Mutation 'R5244:Adamtsl3'
ID 401054
Institutional Source Beutler Lab
Gene Symbol Adamtsl3
Ensembl Gene ENSMUSG00000070469
Gene Name ADAMTS-like 3
Synonyms 9230119C12Rik, punctin-2
MMRRC Submission 042815-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5244 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 81984902-82263658 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 82247277 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 485 (P485L)
Ref Sequence ENSEMBL: ENSMUSP00000133337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000173287] [ENSMUST00000173828]
AlphaFold G3UXC7
Predicted Effect probably benign
Transcript: ENSMUST00000173287
AA Change: P1411L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000133637
Gene: ENSMUSG00000070469
AA Change: P1411L

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
AA Change: P485L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000133337
Gene: ENSMUSG00000070469
AA Change: P485L

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 97% (63/65)
Allele List at MGI

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

Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik G T 9: 53,323,098 (GRCm39) G45W probably damaging Het
Abca13 C T 11: 9,225,081 (GRCm39) T520I probably benign Het
Bbof1 A C 12: 84,476,847 (GRCm39) E492A possibly damaging Het
Capn11 T C 17: 45,944,818 (GRCm39) E483G probably damaging Het
Cbs C T 17: 31,836,134 (GRCm39) G438D probably damaging Het
Chil6 A G 3: 106,297,290 (GRCm39) Y284H probably damaging Het
Cops4 C A 5: 100,681,241 (GRCm39) Q131K probably benign Het
Cul4a T C 8: 13,196,566 (GRCm39) I740T probably damaging Het
Cyfip1 C T 7: 55,574,947 (GRCm39) T1066I probably damaging Het
Dnah7b T C 1: 46,273,018 (GRCm39) L2382P probably damaging Het
Ehd3 A T 17: 74,136,995 (GRCm39) H388L probably benign Het
Fam13a G T 6: 58,930,459 (GRCm39) Y484* probably null Het
Gm5117 A G 8: 32,228,305 (GRCm39) noncoding transcript Het
Gulp1 G A 1: 44,827,613 (GRCm39) D260N probably damaging Het
Hhipl1 T A 12: 108,278,393 (GRCm39) N240K probably damaging Het
Hydin A T 8: 111,259,451 (GRCm39) E2474D possibly damaging Het
Ifi207 C T 1: 173,557,503 (GRCm39) V412I probably benign Het
Ighv9-4 T C 12: 114,263,871 (GRCm39) I21V probably benign Het
Kcnh1 A T 1: 191,907,184 (GRCm39) T79S probably benign Het
Kpna6 A G 4: 129,549,221 (GRCm39) probably null Het
Lnpk C T 2: 74,362,232 (GRCm39) G262D probably damaging Het
Lsm7 T C 10: 80,688,907 (GRCm39) E66G probably benign Het
Mbd3l1 T A 9: 18,395,933 (GRCm39) C19* probably null Het
Mfsd6l T A 11: 68,448,001 (GRCm39) L284Q possibly damaging Het
Naip5 C T 13: 100,382,170 (GRCm39) V180I probably benign Het
Or2ag1b T A 7: 106,288,396 (GRCm39) I181F probably benign Het
Or2j6 A T 7: 139,980,051 (GRCm39) C303S probably benign Het
Or4k39 T A 2: 111,238,899 (GRCm39) noncoding transcript Het
Or6d13 T A 6: 116,518,187 (GRCm39) Y258N probably damaging Het
Or7g22 A T 9: 19,049,147 (GRCm39) N286I probably damaging Het
Or8g20 T G 9: 39,395,808 (GRCm39) H247P probably damaging Het
Or8u10 C G 2: 85,915,300 (GRCm39) A274P probably damaging Het
Pck1 T A 2: 172,996,656 (GRCm39) I190N possibly damaging Het
Pfkfb3 T A 2: 11,489,660 (GRCm39) I209F probably damaging Het
Phc1 A G 6: 122,298,938 (GRCm39) S677P probably damaging Het
Pirb G A 7: 3,719,062 (GRCm39) A609V probably benign Het
Plag1 A T 4: 3,903,887 (GRCm39) S435T probably benign Het
Plscr2 C G 9: 92,173,102 (GRCm39) L215V probably benign Het
Pnma8a A G 7: 16,695,248 (GRCm39) S368G probably damaging Het
Polr2b A G 5: 77,490,847 (GRCm39) probably benign Het
Pthlh T C 6: 147,158,651 (GRCm39) Y103C probably damaging Het
Ptprq A G 10: 107,422,556 (GRCm39) V1612A possibly damaging Het
Rprd2 T A 3: 95,697,494 (GRCm39) I85L possibly damaging Het
Slc27a2 T C 2: 126,420,775 (GRCm39) V422A probably benign Het
Slc29a1 T C 17: 45,899,339 (GRCm39) probably benign Het
Slc36a4 A T 9: 15,645,574 (GRCm39) I334F probably benign Het
Slc4a10 T A 2: 62,119,069 (GRCm39) S761R probably damaging Het
Spa17 T A 9: 37,523,285 (GRCm39) M1L probably damaging Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Stk19 A G 17: 35,051,046 (GRCm39) L72P probably damaging Het
Trhde T C 10: 114,636,986 (GRCm39) M74V probably benign Het
Trim37 C T 11: 87,109,083 (GRCm39) H937Y probably benign Het
Ttc7b A G 12: 100,314,269 (GRCm39) L46P probably damaging Het
Ttll4 T C 1: 74,735,607 (GRCm39) V1005A probably benign Het
Ugt2b36 T C 5: 87,239,765 (GRCm39) T207A probably damaging Het
Unc13c C T 9: 73,433,233 (GRCm39) probably null Het
Vmn1r221 T C 13: 23,401,808 (GRCm39) noncoding transcript Het
Vmn2r101 T C 17: 19,831,788 (GRCm39) S595P probably damaging Het
Wnt10a T C 1: 74,842,454 (GRCm39) L310P probably damaging Het
Yif1b G A 7: 28,943,866 (GRCm39) A115T probably damaging Het
Zfp219 C A 14: 52,245,999 (GRCm39) R331L possibly damaging 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
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
R6982:Adamtsl3 UTSW 7 82,164,271 (GRCm39) missense probably damaging 1.00
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'- TACTCCCCAGACCTGTGTAAG -3'
(R):5'- ACTACCAAAGACTGAGGGCC -3'

Sequencing Primer
(F):5'- CTGTGTAAGGGCATCCATAAAC -3'
(R):5'- ACCTAAGTGCCCAGGTATAGGTTC -3'
Posted On 2016-07-06