Incidental Mutation 'R6295:Pomk'
ID 508709
Institutional Source Beutler Lab
Gene Symbol Pomk
Ensembl Gene ENSMUSG00000037251
Gene Name protein-O-mannose kinase
Synonyms 4930444A02Rik, Sgk196
MMRRC Submission 044463-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.250) question?
Stock # R6295 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 26470632-26484149 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 26472955 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 333 (V333F)
Ref Sequence ENSEMBL: ENSMUSP00000053802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061850]
AlphaFold Q3TUA9
Predicted Effect probably damaging
Transcript: ENSMUST00000061850
AA Change: V333F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000053802
Gene: ENSMUSG00000037251
AA Change: V333F

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:Pkinase 80 207 2e-6 PFAM
Pfam:Pkinase_Tyr 80 215 5.9e-11 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (49/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may be involved in the presentation of the laminin-binding O-linked carbohydrate chain of alpha-dystroglycan (a-DG), which forms transmembrane linkages between the extracellular matrix and the exoskeleton. Some pathogens use this O-linked carbohydrate unit for host entry. Loss of function compound heterozygous mutations in this gene were found in a human patient affected by the Walker-Warburg syndrome (WWS) phenotype. Mice lacking this gene contain misplaced neurons (heterotopia) in some regions of the brain, possibly from defects in neuronal migration. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a gene trap insertion show hydrocephaly and cerebellar dysplasia. Mice also show learning defects, impaired motor strength and decreased sensitivity to pain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A C 12: 118,838,379 (GRCm39) V1061G probably damaging Het
Acap1 A G 11: 69,781,413 (GRCm39) probably null Het
Apbb1 A G 7: 105,215,902 (GRCm39) F112L probably benign Het
Atg9a A G 1: 75,161,702 (GRCm39) S615P probably benign Het
Atp8a2 G A 14: 60,249,848 (GRCm39) R548* probably null Het
Bbof1 A T 12: 84,457,942 (GRCm39) N69I possibly damaging Het
Bcl2l14 T A 6: 134,404,370 (GRCm39) V186D probably benign Het
Bmp1 T G 14: 70,728,823 (GRCm39) Y583S possibly damaging Het
Boc A C 16: 44,312,711 (GRCm39) S586R probably benign Het
Btbd9 A T 17: 30,518,710 (GRCm39) probably null Het
Cacna1e T C 1: 154,317,919 (GRCm39) M1180V probably damaging Het
Ciao1 T C 2: 127,088,376 (GRCm39) H149R probably damaging Het
Cops5 T C 1: 10,100,920 (GRCm39) probably benign Het
Doc2b C T 11: 75,671,093 (GRCm39) R209Q probably damaging Het
Doc2b T C 11: 75,686,451 (GRCm39) Y90C probably benign Het
Ep400 A G 5: 110,901,675 (GRCm39) F481L probably benign Het
Fat4 T A 3: 39,061,229 (GRCm39) probably null Het
Fbxw16 T A 9: 109,277,837 (GRCm39) probably benign Het
Fbxw27 T C 9: 109,601,154 (GRCm39) E17G possibly damaging Het
Gm29735 G A 7: 141,710,367 (GRCm39) P162S unknown Het
Gypa T G 8: 81,222,969 (GRCm39) S24R unknown Het
Hdhd5 T C 6: 120,495,485 (GRCm39) N153D probably benign Het
Ibsp C A 5: 104,449,987 (GRCm39) probably null Het
Klhdc3 C T 17: 46,988,972 (GRCm39) V73I probably benign Het
Lrrc37a T C 11: 103,388,459 (GRCm39) E2322G unknown Het
Lrrtm3 T C 10: 63,765,913 (GRCm39) H558R probably benign Het
Mbtd1 C T 11: 93,823,058 (GRCm39) H493Y possibly damaging Het
Mphosph9 A G 5: 124,458,978 (GRCm39) V64A possibly damaging Het
Nthl1 C T 17: 24,857,475 (GRCm39) R251C probably damaging Het
Numa1 G A 7: 101,649,974 (GRCm39) R1235H probably benign Het
Opn1sw T A 6: 29,379,413 (GRCm39) Y197F possibly damaging Het
Or10a3m T C 7: 108,312,845 (GRCm39) V95A probably damaging Het
Pcca A T 14: 122,896,187 (GRCm39) I268F probably benign Het
Per2 A T 1: 91,377,594 (GRCm39) D76E unknown Het
Pfas T C 11: 68,888,825 (GRCm39) N374S probably benign Het
Ptgfr T C 3: 151,540,926 (GRCm39) E194G probably benign Het
Ptpn14 C T 1: 189,582,997 (GRCm39) P615S probably damaging Het
Pyroxd1 T C 6: 142,300,479 (GRCm39) I203T probably benign Het
Rgs22 T C 15: 36,087,520 (GRCm39) N466S probably benign Het
Rpl3l G A 17: 24,952,966 (GRCm39) V309I probably benign Het
Rtkn2 C T 10: 67,815,529 (GRCm39) probably benign Het
Sec16a C T 2: 26,318,253 (GRCm39) A1613T probably damaging Het
Sis T A 3: 72,874,103 (GRCm39) T33S probably damaging Het
Slc22a4 C A 11: 53,898,634 (GRCm39) V153F possibly damaging Het
Stxbp1 C G 2: 32,684,621 (GRCm39) E603Q probably damaging Het
Tiam2 A G 17: 3,559,831 (GRCm39) S1291G probably damaging Het
Tmem94 T A 11: 115,687,572 (GRCm39) L1144M probably damaging Het
Ttn G A 2: 76,579,673 (GRCm39) T23740M probably damaging Het
Vmn1r201 T C 13: 22,659,533 (GRCm39) V249A probably benign Het
Wdr7 T A 18: 63,888,182 (GRCm39) C552S probably damaging Het
Other mutations in Pomk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00814:Pomk APN 8 26,473,624 (GRCm39) missense probably benign 0.21
IGL02678:Pomk APN 8 26,473,135 (GRCm39) missense probably damaging 0.97
IGL03090:Pomk APN 8 26,473,338 (GRCm39) missense probably damaging 0.99
R1302:Pomk UTSW 8 26,473,102 (GRCm39) missense probably damaging 1.00
R3105:Pomk UTSW 8 26,472,942 (GRCm39) missense probably damaging 1.00
R4646:Pomk UTSW 8 26,473,633 (GRCm39) missense probably damaging 1.00
R5106:Pomk UTSW 8 26,476,404 (GRCm39) missense probably benign 0.00
R5343:Pomk UTSW 8 26,473,044 (GRCm39) missense probably benign 0.09
R5572:Pomk UTSW 8 26,473,218 (GRCm39) missense possibly damaging 0.88
R5953:Pomk UTSW 8 26,473,076 (GRCm39) missense probably damaging 1.00
R6150:Pomk UTSW 8 26,473,284 (GRCm39) missense possibly damaging 0.89
R8719:Pomk UTSW 8 26,473,503 (GRCm39) missense possibly damaging 0.88
R8841:Pomk UTSW 8 26,476,407 (GRCm39) missense probably benign
R8900:Pomk UTSW 8 26,473,384 (GRCm39) missense possibly damaging 0.79
R9495:Pomk UTSW 8 26,473,344 (GRCm39) missense probably damaging 1.00
R9572:Pomk UTSW 8 26,472,936 (GRCm39) missense possibly damaging 0.80
R9756:Pomk UTSW 8 26,472,918 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- TCAAACATGCAGGCAGACG -3'
(R):5'- GCCCTTCCAAGACGATCTCATG -3'

Sequencing Primer
(F):5'- CAGACGTAGAGGAGGCCTAC -3'
(R):5'- GCCTTCCTACAATGAGAAGGTTGAC -3'
Posted On 2018-04-02