Incidental Mutation 'R7467:Pank2'
ID 578835
Institutional Source Beutler Lab
Gene Symbol Pank2
Ensembl Gene ENSMUSG00000037514
Gene Name pantothenate kinase 2
Synonyms 4933409I19Rik
MMRRC Submission 045541-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R7467 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 131104415-131141108 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 131115967 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 128 (N128K)
Ref Sequence ENSEMBL: ENSMUSP00000119606 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000150843] [ENSMUST00000184105] [ENSMUST00000184932]
AlphaFold no structure available at present
Predicted Effect
SMART Domains Protein: ENSMUSP00000115034
Gene: ENSMUSG00000037514
AA Change: N52K

DomainStartEndE-ValueType
Pfam:Fumble 11 128 5.1e-21 PFAM
Pfam:Fumble 121 178 2.7e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000150843
AA Change: N128K

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000119606
Gene: ENSMUSG00000037514
AA Change: N128K

DomainStartEndE-ValueType
low complexity region 11 27 N/A INTRINSIC
low complexity region 28 54 N/A INTRINSIC
Pfam:Fumble 86 438 8.8e-119 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183349
Predicted Effect probably benign
Transcript: ENSMUST00000183388
Predicted Effect probably damaging
Transcript: ENSMUST00000184105
AA Change: N128K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138992
Gene: ENSMUSG00000037514
AA Change: N128K

DomainStartEndE-ValueType
low complexity region 11 27 N/A INTRINSIC
low complexity region 28 54 N/A INTRINSIC
Pfam:Fumble 85 154 7.2e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000184932
AA Change: N128K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139259
Gene: ENSMUSG00000037514
AA Change: N128K

DomainStartEndE-ValueType
low complexity region 11 27 N/A INTRINSIC
low complexity region 28 54 N/A INTRINSIC
Pfam:Fumble 85 151 1e-12 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 98% (103/105)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by acyl CoA species. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display male infertility, arrested spermatogenesis, azoospermia, reduced female fertility, and retinal degeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 G A 17: 56,098,952 (GRCm39) V153I probably benign Het
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Aldh16a1 A G 7: 44,795,331 (GRCm39) Y443H probably benign Het
Apbb1 A G 7: 105,215,339 (GRCm39) V434A probably benign Het
Atrip A G 9: 108,898,422 (GRCm39) M199T probably damaging Het
Atxn2 T C 5: 121,940,330 (GRCm39) probably null Het
AU040320 A G 4: 126,708,103 (GRCm39) T240A probably benign Het
Btf3l4 A T 4: 108,675,589 (GRCm39) probably null Het
Ccdc106 A G 7: 5,063,325 (GRCm39) T277A probably damaging Het
Cdk15 G T 1: 59,328,938 (GRCm39) W282L probably null Het
Cflar T A 1: 58,765,597 (GRCm39) M1K probably null Het
Champ1 C A 8: 13,928,579 (GRCm39) P246T possibly damaging Het
Crat A C 2: 30,299,994 (GRCm39) F129V probably damaging Het
Csmd3 T C 15: 47,492,640 (GRCm39) N2256S Het
Cwh43 C A 5: 73,569,311 (GRCm39) Q118K probably damaging Het
Daam1 A T 12: 72,032,580 (GRCm39) K949* probably null Het
Ddn C G 15: 98,703,247 (GRCm39) E682Q possibly damaging Het
Des T A 1: 75,339,605 (GRCm39) M321K possibly damaging Het
Dnm2 T C 9: 21,392,672 (GRCm39) V460A probably damaging Het
Dst G A 1: 34,230,236 (GRCm39) E2610K probably benign Het
Efr3a C T 15: 65,729,360 (GRCm39) T660I possibly damaging Het
Eogt T C 6: 97,119,794 (GRCm39) E138G probably benign Het
Epha8 G A 4: 136,658,399 (GRCm39) A992V possibly damaging Het
Exoc2 A T 13: 31,109,716 (GRCm39) D217E probably damaging Het
Fam222b T C 11: 78,045,173 (GRCm39) S245P probably damaging Het
Fbxo45 T C 16: 32,057,339 (GRCm39) Y185C probably damaging Het
Fbxo47 T C 11: 97,755,993 (GRCm39) T170A probably benign Het
Fbxw26 A T 9: 109,561,765 (GRCm39) V143E probably benign Het
Foxb2 T C 19: 16,851,004 (GRCm39) M1V probably null Het
Gm11596 C A 11: 99,683,962 (GRCm39) V53L unknown Het
Gm47791 A G 1: 82,748,547 (GRCm39) *140Q probably null Het
Gpr179 C T 11: 97,226,115 (GRCm39) M2013I probably benign Het
Hck T A 2: 152,971,850 (GRCm39) L137* probably null Het
Hectd4 T A 5: 121,462,024 (GRCm39) C964S possibly damaging Het
Hexa T C 9: 59,464,683 (GRCm39) probably null Het
Ifna12 C A 4: 88,521,502 (GRCm39) S15I possibly damaging Het
Kif18b C A 11: 102,807,234 (GRCm39) V34L probably damaging Het
Kif18b A T 11: 102,803,174 (GRCm39) probably null Het
Kifap3 A T 1: 163,643,402 (GRCm39) H209L probably benign Het
Klhl1 A T 14: 96,360,713 (GRCm39) D712E probably damaging Het
Kmt2c T C 5: 25,513,530 (GRCm39) D3088G probably damaging Het
Mageb3 A G 2: 121,784,953 (GRCm39) Y250H probably damaging Het
Manba G T 3: 135,250,562 (GRCm39) E396D probably damaging Het
Mapkbp1 T A 2: 119,852,669 (GRCm39) V997E probably damaging Het
Mdc1 A G 17: 36,155,448 (GRCm39) H41R probably benign Het
Mis18a T G 16: 90,516,866 (GRCm39) M179L probably benign Het
Mmp25 C G 17: 23,863,756 (GRCm39) G25R possibly damaging Het
Mmp3 A G 9: 7,447,621 (GRCm39) D202G possibly damaging Het
Mmp3 C T 9: 7,450,125 (GRCm39) P286S probably benign Het
Mrgpra2b G A 7: 47,114,277 (GRCm39) H152Y possibly damaging Het
Mslnl A T 17: 25,955,895 (GRCm39) M1L probably benign Het
Myo1d G A 11: 80,477,743 (GRCm39) T880I probably damaging Het
Ncaph T A 2: 126,975,795 (GRCm39) probably benign Het
Nln T C 13: 104,161,530 (GRCm39) D680G possibly damaging Het
Noct C T 3: 51,132,622 (GRCm39) A33V probably benign Het
Nolc1 A G 19: 46,070,773 (GRCm39) T325A unknown Het
Nr2e3 A G 9: 59,856,434 (GRCm39) probably null Het
Nrg2 T A 18: 36,155,459 (GRCm39) H450L probably benign Het
Or13a21 T C 7: 139,999,287 (GRCm39) N133S probably benign Het
Or2t43 A C 11: 58,457,288 (GRCm39) N294K possibly damaging Het
Or5ak24 T G 2: 85,261,171 (GRCm39) M1L possibly damaging Het
Or5an1 T A 19: 12,260,839 (GRCm39) C142* probably null Het
Or6b3 T A 1: 92,439,570 (GRCm39) Y60F possibly damaging Het
Pcdha3 T C 18: 37,080,584 (GRCm39) V442A probably damaging Het
Pds5b T A 5: 150,659,792 (GRCm39) S252T probably damaging Het
Pfpl T C 19: 12,405,878 (GRCm39) L43S probably damaging Het
Pigu T A 2: 155,141,009 (GRCm39) I295F probably damaging Het
Piwil4 T C 9: 14,616,337 (GRCm39) Y673C probably damaging Het
Pls1 A G 9: 95,651,166 (GRCm39) Y414H possibly damaging Het
Ppp1r13l A T 7: 19,105,305 (GRCm39) Q359L probably damaging Het
Ppp2r5c A G 12: 110,519,317 (GRCm39) Y263C probably damaging Het
Prrc2c A T 1: 162,504,932 (GRCm39) S2638R possibly damaging Het
Prss39 T A 1: 34,538,473 (GRCm39) probably null Het
Psmd1 G A 1: 86,044,355 (GRCm39) V648M probably damaging Het
Rad50 T C 11: 53,545,735 (GRCm39) D1196G probably damaging Het
Rfx1 T C 8: 84,800,542 (GRCm39) Y48H possibly damaging Het
Rgs20 A G 1: 4,982,553 (GRCm39) I305T probably benign Het
Rpl9 T C 5: 65,548,310 (GRCm39) T9A probably benign Het
Samd4 A G 14: 47,325,313 (GRCm39) N598D probably benign Het
Sema7a T C 9: 57,868,705 (GRCm39) Y606H probably damaging Het
Sf3b3 A G 8: 111,538,088 (GRCm39) S1150P possibly damaging Het
Sirt1 T C 10: 63,157,929 (GRCm39) N495S probably benign Het
Slc17a3 T C 13: 24,030,950 (GRCm39) probably null Het
Slc25a22 T C 7: 141,013,889 (GRCm39) T24A probably benign Het
Slc30a9 T C 5: 67,502,987 (GRCm39) I363T probably benign Het
Srbd1 A G 17: 86,406,702 (GRCm39) V561A probably damaging Het
Srgap1 C A 10: 121,691,344 (GRCm39) E297* probably null Het
Srgap2 T C 1: 131,220,405 (GRCm39) S896G probably damaging Het
Sspo T C 6: 48,463,237 (GRCm39) C3730R probably damaging Het
Stat2 T A 10: 128,113,772 (GRCm39) probably null Het
Tcof1 T C 18: 60,964,977 (GRCm39) K581E unknown Het
Tdpoz6 T A 3: 93,600,265 (GRCm39) T35S probably benign Het
Thbs1 T C 2: 117,948,681 (GRCm39) S446P probably damaging Het
Thsd7a T C 6: 12,331,584 (GRCm39) Y1330C Het
Tmem121 C A 12: 113,152,690 (GRCm39) P303T probably benign Het
Tmem87b T A 2: 128,691,071 (GRCm39) probably null Het
Tmem98 A T 11: 80,711,011 (GRCm39) probably null Het
Trpm3 T A 19: 22,955,698 (GRCm39) I1091N possibly damaging Het
Urb2 A G 8: 124,755,250 (GRCm39) E319G probably benign Het
Vmn1r170 A T 7: 23,306,320 (GRCm39) M241L not run Het
Vmn1r238 T C 18: 3,123,393 (GRCm39) N7S probably benign Het
Wdr6 T C 9: 108,450,201 (GRCm39) H1109R probably benign Het
Zdhhc13 T C 7: 48,454,156 (GRCm39) V193A probably benign Het
Zfp354c T C 11: 50,706,253 (GRCm39) Y274C probably damaging Het
Zfp738 T A 13: 67,821,080 (GRCm39) E89V probably benign Het
Zswim3 T A 2: 164,661,795 (GRCm39) F92I possibly damaging Het
Other mutations in Pank2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Pank2 APN 2 131,116,089 (GRCm39) missense possibly damaging 0.69
R0242:Pank2 UTSW 2 131,122,117 (GRCm39) missense probably damaging 1.00
R0242:Pank2 UTSW 2 131,122,117 (GRCm39) missense probably damaging 1.00
R0492:Pank2 UTSW 2 131,122,180 (GRCm39) missense probably damaging 1.00
R0513:Pank2 UTSW 2 131,124,526 (GRCm39) missense probably damaging 1.00
R1415:Pank2 UTSW 2 131,124,638 (GRCm39) nonsense probably null
R1622:Pank2 UTSW 2 131,115,889 (GRCm39) missense probably damaging 1.00
R2217:Pank2 UTSW 2 131,124,601 (GRCm39) splice site probably null
R4690:Pank2 UTSW 2 131,115,945 (GRCm39) missense probably damaging 1.00
R4691:Pank2 UTSW 2 131,138,201 (GRCm39) missense possibly damaging 0.85
R5387:Pank2 UTSW 2 131,116,182 (GRCm39) missense probably benign 0.24
R6175:Pank2 UTSW 2 131,122,181 (GRCm39) nonsense probably null
R6806:Pank2 UTSW 2 131,104,627 (GRCm39) unclassified probably benign
R6848:Pank2 UTSW 2 131,124,546 (GRCm39) missense probably damaging 0.98
R7010:Pank2 UTSW 2 131,122,293 (GRCm39) missense probably benign
R7723:Pank2 UTSW 2 131,122,258 (GRCm39) missense probably damaging 1.00
R8504:Pank2 UTSW 2 131,135,320 (GRCm39) missense probably benign 0.00
R8905:Pank2 UTSW 2 131,124,646 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- AGCATATGGAATAAGTTGCCAGTC -3'
(R):5'- TCCAGTGGCACAAAAGACAG -3'

Sequencing Primer
(F):5'- AGTTGCCAGTCAAGTAAATATAAGC -3'
(R):5'- CACAAAAGACAGTGTGGAGACTTG -3'
Posted On 2019-10-07