Incidental Mutation 'R1622:Pank2'
ID 174691
Institutional Source Beutler Lab
Gene Symbol Pank2
Ensembl Gene ENSMUSG00000037514
Gene Name pantothenate kinase 2
Synonyms 4933409I19Rik
MMRRC Submission 039659-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R1622 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 131104415-131141108 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 131115889 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 102 (E102D)
Ref Sequence ENSEMBL: ENSMUSP00000138992 (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: E26D
SMART Domains Protein: ENSMUSP00000115034
Gene: ENSMUSG00000037514
AA Change: E26D

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: E102D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119606
Gene: ENSMUSG00000037514
AA Change: E102D

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: E102D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138992
Gene: ENSMUSG00000037514
AA Change: E102D

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: E102D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139259
Gene: ENSMUSG00000037514
AA Change: E102D

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 0.4778 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 98% (55/56)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldoart2 A G 12: 55,612,696 (GRCm39) E207G probably benign Het
Arhgap19 T A 19: 41,790,412 (GRCm39) S19C probably benign Het
Arhgef18 T A 8: 3,491,272 (GRCm39) D374E possibly damaging Het
Atf2 A G 2: 73,684,133 (GRCm39) probably null Het
Cadm1 A G 9: 47,725,139 (GRCm39) N300S probably benign Het
Ccdc159 A T 9: 21,840,666 (GRCm39) I78F possibly damaging Het
Cdh4 T C 2: 179,530,885 (GRCm39) I589T possibly damaging Het
Clstn1 T C 4: 149,713,864 (GRCm39) I182T probably damaging Het
Cnga3 T A 1: 37,283,909 (GRCm39) probably benign Het
Cntln T A 4: 84,981,418 (GRCm39) S865R probably damaging Het
Col5a3 C T 9: 20,683,516 (GRCm39) G1552E unknown Het
Col6a4 A C 9: 105,874,334 (GRCm39) S2218A probably benign Het
Ephb1 T C 9: 101,878,910 (GRCm39) T527A probably benign Het
Fkbp15 T A 4: 62,241,439 (GRCm39) I569F possibly damaging Het
Gabra4 A G 5: 71,729,329 (GRCm39) S484P possibly damaging Het
Glce T C 9: 61,977,843 (GRCm39) I14V possibly damaging Het
Gm4884 A T 7: 40,692,265 (GRCm39) Q78L probably damaging Het
Gpn1 A G 5: 31,660,748 (GRCm39) T180A possibly damaging Het
Gpr6 A T 10: 40,947,288 (GRCm39) I98N probably damaging Het
Hcrtr2 T C 9: 76,230,722 (GRCm39) N22S probably benign Het
Hfm1 C T 5: 107,041,389 (GRCm39) V665I possibly damaging Het
Il4ra T A 7: 125,169,225 (GRCm39) I159N possibly damaging Het
Irf8 G C 8: 121,466,561 (GRCm39) C2S possibly damaging Het
Itih2 A T 2: 10,106,890 (GRCm39) N701K probably benign Het
Lrrc4b GAGAAG GAG 7: 44,111,654 (GRCm39) probably benign Het
Mmp10 T A 9: 7,504,996 (GRCm39) Y263* probably null Het
Morc3 T A 16: 93,671,694 (GRCm39) M835K probably benign Het
Msh3 A G 13: 92,481,462 (GRCm39) probably null Het
Ncbp1 A G 4: 46,171,963 (GRCm39) H777R possibly damaging Het
Nfatc1 A G 18: 80,710,182 (GRCm39) M514T probably damaging Het
Nlrp3 T A 11: 59,439,302 (GRCm39) I293N probably damaging Het
Pbrm1 A G 14: 30,754,505 (GRCm39) D175G probably benign Het
Pcdh9 T C 14: 94,123,311 (GRCm39) D953G probably benign Het
Pibf1 G A 14: 99,423,917 (GRCm39) V497I probably benign Het
Pkd1 G A 17: 24,800,614 (GRCm39) M3085I probably benign Het
Prss58 A T 6: 40,874,248 (GRCm39) C143S possibly damaging Het
Rassf8 A G 6: 145,765,829 (GRCm39) probably benign Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Spag7 T A 11: 70,555,688 (GRCm39) D73V probably damaging Het
Sult3a1 A T 10: 33,746,246 (GRCm39) M189L probably benign Het
Syt4 T C 18: 31,577,069 (GRCm39) D95G probably damaging Het
Tbc1d8 A C 1: 39,419,317 (GRCm39) S766A probably benign Het
Tmco5 A T 2: 116,710,796 (GRCm39) M39L probably benign Het
Trcg1 A G 9: 57,155,955 (GRCm39) N797S possibly damaging Het
Trim34a A T 7: 103,910,545 (GRCm39) probably null Het
Ubr5 T C 15: 38,009,357 (GRCm39) probably benign Het
Urb2 A G 8: 124,756,363 (GRCm39) N690S probably benign Het
Zfp445 A G 9: 122,681,614 (GRCm39) Y776H possibly damaging Het
Zfp52 G A 17: 21,781,833 (GRCm39) M560I probably benign Het
Zfp608 A G 18: 55,121,366 (GRCm39) S74P probably benign Het
Zfp629 A G 7: 127,211,012 (GRCm39) C266R probably damaging Het
Zscan2 A G 7: 80,525,134 (GRCm39) K285R probably benign 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
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
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'- AGCACGTTAGGGTGAGTCCTAGAG -3'
(R):5'- TTTGCGTCCACACAGAGTCAGGTC -3'

Sequencing Primer
(F):5'- tatccacccacccccac -3'
(R):5'- AGTCAGGTCCTTCAGCTCAAG -3'
Posted On 2014-04-24