Incidental Mutation 'R7723:Pank2'
ID 595320
Institutional Source Beutler Lab
Gene Symbol Pank2
Ensembl Gene ENSMUSG00000037514
Gene Name pantothenate kinase 2
Synonyms 4933409I19Rik
MMRRC Submission 045779-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R7723 (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 C at 131122258 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 261 (V261A)
Ref Sequence ENSEMBL: ENSMUSP00000119606 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000150843] [ENSMUST00000184105] [ENSMUST00000184932]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000145904
SMART Domains Protein: ENSMUSP00000115034
Gene: ENSMUSG00000037514

DomainStartEndE-ValueType
Pfam:Fumble 11 128 5.1e-21 PFAM
Pfam:Fumble 121 178 2.7e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000150843
AA Change: V261A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119606
Gene: ENSMUSG00000037514
AA Change: V261A

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 benign
Transcript: ENSMUST00000184105
SMART Domains Protein: ENSMUSP00000138992
Gene: ENSMUSG00000037514

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 benign
Transcript: ENSMUST00000184932
SMART Domains Protein: ENSMUSP00000139259
Gene: ENSMUSG00000037514

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
Meta Mutation Damage Score 0.9305 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (57/57)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apbb1ip G A 2: 22,761,574 (GRCm39) probably null Het
Brinp3 C T 1: 146,577,409 (GRCm39) T148I probably damaging Het
C1qa A T 4: 136,623,744 (GRCm39) C153* probably null Het
Camkk1 G T 11: 72,928,058 (GRCm39) R363L probably benign Het
Ccdc80 T G 16: 44,946,798 (GRCm39) probably null Het
Cenpu T C 8: 47,029,349 (GRCm39) S351P probably damaging Het
Chd9 C T 8: 91,741,837 (GRCm39) L1609F unknown Het
Cnr1 T A 4: 33,944,416 (GRCm39) I268N probably damaging Het
Cyp3a59 A T 5: 146,016,154 (GRCm39) I4F probably benign Het
Dph6 A G 2: 114,475,236 (GRCm39) V93A probably damaging Het
Egf T A 3: 129,499,786 (GRCm39) M785L probably benign Het
Fbn1 A T 2: 125,223,954 (GRCm39) C598* probably null Het
Fer T C 17: 64,203,273 (GRCm39) S68P probably damaging Het
Herc1 C T 9: 66,279,158 (GRCm39) T22I probably benign Het
Kat2b A G 17: 53,945,415 (GRCm39) D278G possibly damaging Het
Kdm1a C T 4: 136,285,060 (GRCm39) V520I probably benign Het
Lrrc4c G T 2: 97,460,999 (GRCm39) V542L possibly damaging Het
Lrrtm3 T C 10: 63,924,427 (GRCm39) T247A possibly damaging Het
Macf1 T C 4: 123,326,717 (GRCm39) S4929G probably benign Het
Mbd4 A T 6: 115,822,324 (GRCm39) H428Q possibly damaging Het
Mink1 C G 11: 70,503,736 (GRCm39) Q1183E probably benign Het
Myo9a C T 9: 59,687,141 (GRCm39) P82L probably damaging Het
Nts T C 10: 102,320,784 (GRCm39) T102A probably damaging Het
Nup35 T C 2: 80,486,375 (GRCm39) I230T possibly damaging Het
Nwd2 A T 5: 63,965,347 (GRCm39) T1644S possibly damaging Het
Nynrin T A 14: 56,109,502 (GRCm39) N1536K possibly damaging Het
Or10d5j A T 9: 39,867,920 (GRCm39) Y104N possibly damaging Het
Or13p10 A G 4: 118,522,914 (GRCm39) S67G probably benign Het
Or2at4 A G 7: 99,384,884 (GRCm39) Y178C possibly damaging Het
Or2l13b A T 16: 19,349,358 (GRCm39) L104* probably null Het
Or5d44 A C 2: 88,141,819 (GRCm39) V107G possibly damaging Het
Palld C T 8: 62,164,492 (GRCm39) V400I probably damaging Het
Pcdhb3 C A 18: 37,435,565 (GRCm39) N510K probably damaging Het
Pfkfb2 A T 1: 130,635,325 (GRCm39) Y79N probably damaging Het
Phc2 C T 4: 128,616,882 (GRCm39) A385V probably benign Het
Prob1 T C 18: 35,785,942 (GRCm39) T771A possibly damaging Het
Psmb6 T C 11: 70,417,396 (GRCm39) V109A possibly damaging Het
Ptcd1 T C 5: 145,091,639 (GRCm39) T487A probably damaging Het
Ralgapa1 A T 12: 55,788,298 (GRCm39) M595K probably benign Het
Rps12 A T 10: 23,662,752 (GRCm39) V14D probably benign Het
Scn3b C A 9: 40,199,693 (GRCm39) S203* probably null Het
Serinc1 G A 10: 57,403,918 (GRCm39) P15L probably benign Het
Six2 A G 17: 85,995,103 (GRCm39) I93T probably benign Het
Slco1a1 T A 6: 141,854,795 (GRCm39) I619F probably damaging Het
Snx25 A C 8: 46,491,516 (GRCm39) V858G probably damaging Het
Sspo G A 6: 48,441,572 (GRCm39) C1903Y probably damaging Het
Tas2r116 T A 6: 132,832,867 (GRCm39) I156N probably benign Het
Tasp1 G T 2: 139,827,051 (GRCm39) T189K probably damaging Het
Tdrd6 A T 17: 43,936,851 (GRCm39) M1399K probably benign Het
Tecta C A 9: 42,278,232 (GRCm39) C1092F probably damaging Het
Tmem150a G A 6: 72,336,057 (GRCm39) V215I probably damaging Het
Tmem176b C T 6: 48,812,869 (GRCm39) V109I probably benign Het
Trav8d-1 T A 14: 53,016,321 (GRCm39) I69K probably damaging Het
Ttn A T 2: 76,638,419 (GRCm39) L13954I probably damaging Het
Veph1 C A 3: 66,113,093 (GRCm39) C237F possibly damaging Het
Vmn1r121 G A 7: 20,832,119 (GRCm39) T107I probably damaging Het
Zdhhc13 G A 7: 48,458,567 (GRCm39) M300I probably benign Het
Zfp608 T C 18: 55,030,673 (GRCm39) D1089G probably 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
R7467:Pank2 UTSW 2 131,115,967 (GRCm39) missense possibly damaging 0.53
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'- GTGACCTTCAGCTTCGAAAAC -3'
(R):5'- GAGTCTGTTAAGGCAACACTTAATG -3'

Sequencing Primer
(F):5'- GACCTTCAGCTTCGAAAACTGGATG -3'
(R):5'- GCGCTTGCGTAGTTTCAAAAC -3'
Posted On 2019-11-12