Incidental Mutation 'R5387:Pank2'
ID 482201
Institutional Source Beutler Lab
Gene Symbol Pank2
Ensembl Gene ENSMUSG00000037514
Gene Name pantothenate kinase 2
Synonyms 4933409I19Rik
MMRRC Submission 042959-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R5387 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 131262495-131299188 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 131274262 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 200 (T200I)
Ref Sequence ENSEMBL: ENSMUSP00000119606 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000150843] [ENSMUST00000184105] [ENSMUST00000184932]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131779
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138509
Predicted Effect unknown
Transcript: ENSMUST00000145904
AA Change: T124I
SMART Domains Protein: ENSMUSP00000115034
Gene: ENSMUSG00000037514
AA Change: T124I

Pfam:Fumble 11 128 5.1e-21 PFAM
Pfam:Fumble 121 178 2.7e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150843
AA Change: T200I

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000119606
Gene: ENSMUSG00000037514
AA Change: T200I

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 unknown
Transcript: ENSMUST00000183349
AA Change: H26Y
Predicted Effect unknown
Transcript: ENSMUST00000183388
AA Change: T62I
Predicted Effect probably benign
Transcript: ENSMUST00000184105
SMART Domains Protein: ENSMUSP00000138992
Gene: ENSMUSG00000037514

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

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 0.4586 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 99% (80/81)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009B22Rik A T 11: 51,685,974 (GRCm38) D32E probably benign Het
2210408I21Rik T A 13: 77,259,973 (GRCm38) S140T probably benign Het
Ahnak T C 19: 9,003,691 (GRCm38) S780P probably damaging Het
Ankhd1 C A 18: 36,634,644 (GRCm38) H1205N probably damaging Het
Ano1 T C 7: 144,648,619 (GRCm38) K139R probably benign Het
Anp32b T G 4: 46,468,573 (GRCm38) C114W probably damaging Het
Ascl1 C T 10: 87,492,689 (GRCm38) A134T probably damaging Het
Atl2 C T 17: 79,852,800 (GRCm38) E453K probably benign Het
Aup1 C T 6: 83,055,024 (GRCm38) A84V probably damaging Het
Btbd7 A T 12: 102,837,785 (GRCm38) M332K probably damaging Het
Cacna1d A G 14: 30,100,751 (GRCm38) V1107A probably damaging Het
Cd33 G A 7: 43,532,053 (GRCm38) Q114* probably null Het
Col4a4 C T 1: 82,493,591 (GRCm38) G681E unknown Het
Defb22 C A 2: 152,485,906 (GRCm38) A120S unknown Het
Dnah7b A G 1: 46,188,659 (GRCm38) I1347M probably damaging Het
Efcab5 A G 11: 77,134,842 (GRCm38) I549T possibly damaging Het
Esp15 T A 17: 39,644,577 (GRCm38) probably null Het
Fbxo7 A G 10: 86,024,654 (GRCm38) T42A probably benign Het
Filip1 A G 9: 79,818,274 (GRCm38) I1021T probably benign Het
Gad1 C A 2: 70,563,851 (GRCm38) S7* probably null Het
Gm281 C A 14: 13,914,438 (GRCm38) M1I probably null Het
H2-Q7 C T 17: 35,439,542 (GRCm38) T52M probably damaging Het
H2-T3 C T 17: 36,186,702 (GRCm38) G28R probably benign Het
Hist1h2ad T A 13: 23,574,667 (GRCm38) probably null Het
Idh2 TCCCAGG T 7: 80,098,331 (GRCm38) probably benign Het
Ift81 A G 5: 122,555,535 (GRCm38) Y604H probably damaging Het
Igsf11 A G 16: 39,022,423 (GRCm38) Y154C probably damaging Het
Kif26b G T 1: 178,914,876 (GRCm38) A846S probably benign Het
Lnx2 G A 5: 147,028,154 (GRCm38) P420S probably benign Het
Lrit2 A G 14: 37,072,259 (GRCm38) T427A probably damaging Het
Lrrc43 G T 5: 123,499,671 (GRCm38) probably null Het
Mug1 T C 6: 121,884,394 (GRCm38) Y1325H probably damaging Het
Naglu A T 11: 101,076,724 (GRCm38) Y500F probably damaging Het
Npy4r A G 14: 34,146,983 (GRCm38) M116T probably benign Het
Nrd1 A G 4: 109,039,762 (GRCm38) Y526C probably damaging Het
Nrp2 T C 1: 62,762,813 (GRCm38) S472P probably benign Het
Olfr102 T A 17: 37,314,292 (GRCm38) T31S probably benign Het
Olfr361 T C 2: 37,085,719 (GRCm38) T10A possibly damaging Het
Otogl T A 10: 107,780,933 (GRCm38) T1828S probably benign Het
Pbrm1 A G 14: 31,082,610 (GRCm38) Y946C probably damaging Het
Pde12 A T 14: 26,666,453 (GRCm38) S437T probably benign Het
Pikfyve A G 1: 65,265,268 (GRCm38) K1710E possibly damaging Het
Plcd3 A G 11: 103,078,455 (GRCm38) S229P probably damaging Het
Polr3a T C 14: 24,454,941 (GRCm38) I1084V possibly damaging Het
Prkaa2 C A 4: 105,040,177 (GRCm38) D280Y probably damaging Het
Ptprg T A 14: 12,153,873 (GRCm38) S531R probably damaging Het
R3hdm2 T C 10: 127,485,434 (GRCm38) S620P probably damaging Het
Rab33b A G 3: 51,493,455 (GRCm38) T117A probably damaging Het
Rasal2 T C 1: 157,157,765 (GRCm38) D804G possibly damaging Het
Rbp3 A G 14: 33,956,413 (GRCm38) T773A possibly damaging Het
Rrnad1 A T 3: 87,930,011 (GRCm38) probably benign Het
Rspry1 A G 8: 94,638,286 (GRCm38) T185A possibly damaging Het
Sec61a2 G T 2: 5,882,545 (GRCm38) probably benign Het
Setx C T 2: 29,147,594 (GRCm38) R1364C probably benign Het
Shtn1 G T 19: 59,038,369 (GRCm38) L97M probably damaging Het
Slc35f1 T C 10: 53,108,164 (GRCm38) L340P probably damaging Het
Slc45a1 T A 4: 150,643,909 (GRCm38) probably benign Het
Slmap T C 14: 26,459,933 (GRCm38) E386G probably benign Het
Smc2 C T 4: 52,475,096 (GRCm38) A924V probably benign Het
Sp110 C G 1: 85,589,118 (GRCm38) E219D probably damaging Het
Tecta G A 9: 42,375,063 (GRCm38) L766F probably damaging Het
Tle3 C T 9: 61,407,489 (GRCm38) probably null Het
Top3a A G 11: 60,762,490 (GRCm38) F53L probably damaging Het
Trem1 T C 17: 48,241,513 (GRCm38) I26T possibly damaging Het
Ttc7b G T 12: 100,446,963 (GRCm38) Q199K possibly damaging Het
Ubap2l T C 3: 90,006,596 (GRCm38) Y975C probably benign Het
Ubxn11 C A 4: 134,123,426 (GRCm38) D196E probably damaging Het
Unc80 A G 1: 66,530,021 (GRCm38) H945R possibly damaging Het
Usp15 A G 10: 123,131,286 (GRCm38) I405T probably damaging Het
Uty C T Y: 1,189,339 (GRCm38) E138K probably damaging Het
Wapl A G 14: 34,677,295 (GRCm38) E107G probably benign Het
Wbp1l T C 19: 46,644,457 (GRCm38) probably null Het
Zfp184 T G 13: 21,949,640 (GRCm38) probably benign Het
Zfp36 A C 7: 28,377,868 (GRCm38) L205R possibly damaging Het
Other mutations in Pank2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Pank2 APN 2 131,274,169 (GRCm38) missense possibly damaging 0.69
R0242:Pank2 UTSW 2 131,280,197 (GRCm38) missense probably damaging 1.00
R0242:Pank2 UTSW 2 131,280,197 (GRCm38) missense probably damaging 1.00
R0492:Pank2 UTSW 2 131,280,260 (GRCm38) missense probably damaging 1.00
R0513:Pank2 UTSW 2 131,282,606 (GRCm38) missense probably damaging 1.00
R1415:Pank2 UTSW 2 131,282,718 (GRCm38) nonsense probably null
R1622:Pank2 UTSW 2 131,273,969 (GRCm38) missense probably damaging 1.00
R2217:Pank2 UTSW 2 131,282,681 (GRCm38) splice site probably null
R4690:Pank2 UTSW 2 131,274,025 (GRCm38) missense probably damaging 1.00
R4691:Pank2 UTSW 2 131,296,281 (GRCm38) missense possibly damaging 0.85
R6175:Pank2 UTSW 2 131,280,261 (GRCm38) nonsense probably null
R6806:Pank2 UTSW 2 131,262,707 (GRCm38) unclassified probably benign
R6848:Pank2 UTSW 2 131,282,626 (GRCm38) missense probably damaging 0.98
R7010:Pank2 UTSW 2 131,280,373 (GRCm38) missense probably benign
R7467:Pank2 UTSW 2 131,274,047 (GRCm38) missense possibly damaging 0.53
R7723:Pank2 UTSW 2 131,280,338 (GRCm38) missense probably damaging 1.00
R8504:Pank2 UTSW 2 131,293,400 (GRCm38) missense probably benign 0.00
R8905:Pank2 UTSW 2 131,282,726 (GRCm38) missense possibly damaging 0.94
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2017-07-11