Incidental Mutation 'R4029:Ank'
ID 313136
Institutional Source Beutler Lab
Gene Symbol Ank
Ensembl Gene ENSMUSG00000022265
Gene Name progressive ankylosis
Synonyms D15Ertd221e
MMRRC Submission 040959-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.468) question?
Stock # R4029 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 27466763-27594995 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 27544343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 35 (N35D)
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: N35D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022875
Gene: ENSMUSG00000022265
AA Change: N35D

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 probably benign
Transcript: ENSMUST00000228179
Meta Mutation Damage Score 0.9186 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (31/31)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A G 7: 119,293,008 (GRCm39) K46R probably benign Het
Atp9a A T 2: 168,531,245 (GRCm39) I174N probably damaging Het
Bfsp1 G A 2: 143,673,749 (GRCm39) probably benign Het
Cenpq T C 17: 41,238,140 (GRCm39) T125A probably damaging Het
Dcun1d4 A G 5: 73,691,980 (GRCm39) D89G probably damaging Het
Dip2b A G 15: 100,084,053 (GRCm39) Y892C probably damaging Het
Dmrt2 T G 19: 25,655,498 (GRCm39) S366A probably damaging Het
Exoc7 C T 11: 116,197,814 (GRCm39) probably benign Het
Gabra4 G T 5: 71,729,532 (GRCm39) T390K probably benign Het
Gpr68 A G 12: 100,845,475 (GRCm39) L23P probably damaging Het
Krt17 T A 11: 100,148,349 (GRCm39) N364I probably damaging Het
Lefty1 T C 1: 180,765,346 (GRCm39) S305P probably benign Het
Ly6g6d T A 17: 35,290,636 (GRCm39) Q98L probably benign Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Nck2 T C 1: 43,593,251 (GRCm39) F153L probably benign Het
Niban1 G A 1: 151,571,441 (GRCm39) V239I probably benign Het
Nme4 T C 17: 26,313,196 (GRCm39) probably null Het
Nup35 A G 2: 80,483,318 (GRCm39) D172G probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Oog4 A T 4: 143,166,770 (GRCm39) N11K probably benign Het
Phlpp1 T A 1: 106,320,279 (GRCm39) S1425T probably damaging Het
Pkd1l3 T A 8: 110,350,603 (GRCm39) S483T possibly damaging Het
Pld2 A G 11: 70,445,731 (GRCm39) N655S probably damaging Het
Pramel28 T A 4: 143,692,354 (GRCm39) T216S probably benign Het
Psmd2 G A 16: 20,481,955 (GRCm39) G896D probably damaging Het
Rcn1 G T 2: 105,229,395 (GRCm39) Y52* probably null Het
Reck T C 4: 43,922,931 (GRCm39) I402T probably damaging Het
Shisal2a G T 4: 108,240,412 (GRCm39) C43* probably null Het
Ston2 T C 12: 91,615,037 (GRCm39) Q457R possibly damaging Het
Syt10 T C 15: 89,698,741 (GRCm39) E201G probably benign Het
Ube4a G A 9: 44,861,198 (GRCm39) probably benign Het
Wdr49 C A 3: 75,230,972 (GRCm39) L563F probably benign 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
R1691:Ank UTSW 15 27,591,030 (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
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'- GCTCAAACTGAAGCTAATGTGG -3'
(R):5'- ACCTATCAGGGTGTGGAAGAC -3'

Sequencing Primer
(F):5'- CTGAAGCTAATGTGGACAAAACC -3'
(R):5'- TGTGGAAGACGGCAGCG -3'
Posted On 2015-04-30