Incidental Mutation 'R1691:Ank'
ID 191825
Institutional Source Beutler Lab
Gene Symbol Ank
Ensembl Gene ENSMUSG00000022265
Gene Name progressive ankylosis
Synonyms D15Ertd221e
MMRRC Submission 039724-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.468) question?
Stock # R1691 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 27466763-27594995 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27591030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 390 (W390R)
Ref Sequence ENSEMBL: ENSMUSP00000022875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022875] [ENSMUST00000228179]
AlphaFold Q9JHZ2
Predicted Effect probably damaging
Transcript: ENSMUST00000022875
AA Change: W390R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022875
Gene: ENSMUSG00000022265
AA Change: W390R

DomainStartEndE-ValueType
Pfam:ANKH 1 345 1e-223 PFAM
transmembrane domain 361 383 N/A INTRINSIC
transmembrane domain 404 426 N/A INTRINSIC
transmembrane domain 430 452 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134004
Predicted Effect probably benign
Transcript: ENSMUST00000228179
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant animals exhibit joint stiffness due to increased calcium deposits in calcified cartilages and die prematurely. Hyperostosis of craniofacial bones and the mandible has been reported in other mutants as well. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 T C 7: 82,148,814 (GRCm39) S283P probably damaging Het
Adck2 T A 6: 39,551,902 (GRCm39) L223* probably null Het
Ano5 T C 7: 51,240,327 (GRCm39) Y752H probably damaging Het
Apcs T A 1: 172,722,160 (GRCm39) D62V probably damaging Het
Atad5 A G 11: 79,986,358 (GRCm39) T482A probably benign Het
Atp7b A G 8: 22,501,039 (GRCm39) Y955H possibly damaging Het
Ccdc13 A T 9: 121,654,134 (GRCm39) probably null Het
Ccdc157 G A 11: 4,099,030 (GRCm39) P159S probably benign Het
Cdhr3 C T 12: 33,132,246 (GRCm39) V126M probably damaging Het
Cdr1 T C X: 60,227,780 (GRCm39) D462G possibly damaging Het
Cisd1 A G 10: 71,180,559 (GRCm39) V9A probably benign Het
Col19a1 T C 1: 24,576,022 (GRCm39) R107G unknown Het
Col1a2 C A 6: 4,536,038 (GRCm39) H972Q unknown Het
Col3a1 T A 1: 45,387,776 (GRCm39) probably benign Het
Dbnl A G 11: 5,747,174 (GRCm39) S235G probably null Het
Dock4 T A 12: 40,775,754 (GRCm39) S566T probably benign Het
Efcab6 T C 15: 83,817,407 (GRCm39) D722G probably benign Het
Esyt1 T C 10: 128,361,403 (GRCm39) Q97R probably benign Het
Fat2 G A 11: 55,202,678 (GRCm39) T132I probably damaging Het
Fgd2 C T 17: 29,597,918 (GRCm39) Q618* probably null Het
Flnc T A 6: 29,441,213 (GRCm39) V389E probably benign Het
Garnl3 A T 2: 32,887,675 (GRCm39) Y778* probably null Het
Gpaa1 A T 15: 76,216,416 (GRCm39) Y45F probably damaging Het
Grid1 A T 14: 35,174,286 (GRCm39) I643F probably damaging Het
Gsdmc2 T C 15: 63,705,314 (GRCm39) D133G probably damaging Het
Hp T C 8: 110,302,204 (GRCm39) D248G probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ifna13 T C 4: 88,562,291 (GRCm39) D111G probably benign Het
Il9r T A 11: 32,141,829 (GRCm39) Q309L possibly damaging Het
Insyn2a C T 7: 134,520,015 (GRCm39) A172T probably damaging Het
Ints1 A T 5: 139,754,687 (GRCm39) D617E probably damaging Het
Kcnj12 A T 11: 60,961,103 (GRCm39) N467I possibly damaging Het
Kmt2e T A 5: 23,669,847 (GRCm39) D111E probably damaging Het
Lama4 A G 10: 38,956,559 (GRCm39) K1161E probably benign Het
Lamc1 C T 1: 153,122,995 (GRCm39) D732N probably benign Het
Larp1 A G 11: 57,938,874 (GRCm39) T517A probably benign Het
Lrp12 A G 15: 39,735,661 (GRCm39) I757T probably damaging Het
Max T C 12: 77,000,046 (GRCm39) D23G possibly damaging Het
Nars1 A T 18: 64,649,485 (GRCm39) probably null Het
Nipsnap3a G A 4: 52,994,185 (GRCm39) D91N probably null Het
Nphp3 A G 9: 103,880,010 (GRCm39) T11A probably benign Het
Nr2c2 C A 6: 92,133,673 (GRCm39) T226K probably damaging Het
Nrxn1 A G 17: 90,469,717 (GRCm39) I1288T probably damaging Het
Nt5c1b C T 12: 10,425,537 (GRCm39) T360I possibly damaging Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Or10a3b A G 7: 108,444,348 (GRCm39) Y290H possibly damaging Het
Or13a21 A T 7: 139,998,855 (GRCm39) L277Q probably damaging Het
Or4e1 A T 14: 52,701,288 (GRCm39) H59Q possibly damaging Het
Or4k37 G A 2: 111,159,198 (GRCm39) V145I probably benign Het
Or6d14 A G 6: 116,533,538 (GRCm39) T51A probably benign Het
Or9i1b C T 19: 13,896,783 (GRCm39) T133I probably benign Het
Pcsk1 A G 13: 75,280,344 (GRCm39) D723G possibly damaging Het
Phrf1 C A 7: 140,841,787 (GRCm39) Y715* probably null Het
Pigm T C 1: 172,204,354 (GRCm39) V30A probably benign Het
Pkd1l2 A T 8: 117,783,158 (GRCm39) F721I possibly damaging Het
Pla2g15 A G 8: 106,881,581 (GRCm39) D70G possibly damaging Het
Prl7d1 A T 13: 27,893,365 (GRCm39) I182N probably damaging Het
Prss23 T C 7: 89,159,922 (GRCm39) K49R probably benign Het
Rps6 A T 4: 86,775,046 (GRCm39) D19E probably benign Het
Slco6d1 A T 1: 98,435,292 (GRCm39) H669L probably benign Het
Svil G T 18: 5,056,336 (GRCm39) C490F probably benign Het
Tom1 T C 8: 75,778,227 (GRCm39) I103T probably damaging Het
Trim10 T A 17: 37,187,791 (GRCm39) Y336N probably damaging Het
Trim43c G T 9: 88,722,752 (GRCm39) V133F probably damaging Het
Tvp23a A G 16: 10,246,551 (GRCm39) L78P possibly damaging Het
Ugt2b38 T A 5: 87,571,991 (GRCm39) I14L probably benign Het
Unc5a A C 13: 55,150,737 (GRCm39) M520L probably damaging Het
Vmn1r174 T A 7: 23,453,337 (GRCm39) M1K probably null Het
Vmn2r58 C T 7: 41,486,913 (GRCm39) G661R possibly damaging Het
Vps41 A C 13: 19,025,413 (GRCm39) D471A probably damaging Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp462 T A 4: 55,013,489 (GRCm39) F1818L possibly damaging Het
Zp3 G A 5: 136,009,135 (GRCm39) E50K possibly damaging Het
Other mutations in Ank
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00417:Ank APN 15 27,544,437 (GRCm39) missense possibly damaging 0.53
IGL02975:Ank APN 15 27,467,087 (GRCm39) utr 5 prime probably benign
R0309:Ank UTSW 15 27,567,658 (GRCm39) missense possibly damaging 0.65
R0470:Ank UTSW 15 27,571,721 (GRCm39) missense probably damaging 0.98
R1688:Ank UTSW 15 27,557,320 (GRCm39) missense probably damaging 1.00
R2073:Ank UTSW 15 27,565,108 (GRCm39) missense probably benign 0.20
R2248:Ank UTSW 15 27,562,797 (GRCm39) splice site probably null
R3113:Ank UTSW 15 27,571,700 (GRCm39) missense probably damaging 1.00
R4027:Ank UTSW 15 27,544,343 (GRCm39) missense probably damaging 1.00
R4028:Ank UTSW 15 27,544,343 (GRCm39) missense probably damaging 1.00
R4029:Ank UTSW 15 27,544,343 (GRCm39) missense probably damaging 1.00
R4030:Ank UTSW 15 27,544,343 (GRCm39) missense probably damaging 1.00
R4124:Ank UTSW 15 27,571,709 (GRCm39) missense probably damaging 1.00
R4126:Ank UTSW 15 27,590,459 (GRCm39) missense probably benign
R4508:Ank UTSW 15 27,565,063 (GRCm39) missense probably damaging 1.00
R4517:Ank UTSW 15 27,562,835 (GRCm39) missense possibly damaging 0.51
R4631:Ank UTSW 15 27,467,176 (GRCm39) missense probably benign
R4653:Ank UTSW 15 27,590,447 (GRCm39) missense probably null 0.98
R5001:Ank UTSW 15 27,562,819 (GRCm39) missense probably damaging 0.99
R5029:Ank UTSW 15 27,590,439 (GRCm39) missense probably benign 0.00
R5475:Ank UTSW 15 27,557,285 (GRCm39) missense probably damaging 1.00
R7218:Ank UTSW 15 27,544,407 (GRCm39) missense probably damaging 1.00
R7234:Ank UTSW 15 27,571,742 (GRCm39) critical splice donor site probably null
R8530:Ank UTSW 15 27,544,490 (GRCm39) missense probably benign
R8859:Ank UTSW 15 27,562,834 (GRCm39) missense possibly damaging 0.93
R8935:Ank UTSW 15 27,591,112 (GRCm39) missense probably damaging 0.99
R9002:Ank UTSW 15 27,544,413 (GRCm39) nonsense probably null
R9408:Ank UTSW 15 27,591,588 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCCTCCAAAGTAGGGATGAGCAAC -3'
(R):5'- AGGACAGTATCTGATGACCACCCAC -3'

Sequencing Primer
(F):5'- CAACAGGAAGACAAGTGACCATAC -3'
(R):5'- GATCTCAGAGACTCACTGGTATG -3'
Posted On 2014-05-14