Incidental Mutation 'R5953:Pomk'
ID 471007
Institutional Source Beutler Lab
Gene Symbol Pomk
Ensembl Gene ENSMUSG00000037251
Gene Name protein-O-mannose kinase
Synonyms 4930444A02Rik, Sgk196
MMRRC Submission 043245-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.300) question?
Stock # R5953 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 26470632-26484149 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 26473076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 292 (L292F)
Ref Sequence ENSEMBL: ENSMUSP00000053802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061850]
AlphaFold Q3TUA9
Predicted Effect probably damaging
Transcript: ENSMUST00000061850
AA Change: L292F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000053802
Gene: ENSMUSG00000037251
AA Change: L292F

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: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T A 7: 119,960,241 (GRCm39) S675T probably damaging Het
Acvr2a T C 2: 48,780,416 (GRCm39) L212P probably damaging Het
Adamts14 T C 10: 61,043,225 (GRCm39) T751A probably damaging Het
Adgrf2 T C 17: 43,021,229 (GRCm39) N532D probably damaging Het
Asns T C 6: 7,682,285 (GRCm39) E220G probably benign Het
Cd209d A T 8: 3,927,979 (GRCm39) probably null Het
Cenpp T C 13: 49,806,161 (GRCm39) D2G probably damaging Het
Cenps C A 4: 149,214,658 (GRCm39) probably benign Het
Clec4a3 G T 6: 122,946,451 (GRCm39) V232L probably benign Het
Cntln C T 4: 84,968,156 (GRCm39) H792Y possibly damaging Het
Cobl T A 11: 12,206,220 (GRCm39) T470S probably benign Het
Cym T A 3: 107,120,783 (GRCm39) D274V probably damaging Het
Elac2 G A 11: 64,890,049 (GRCm39) C627Y probably benign Het
Emc7 T A 2: 112,289,903 (GRCm39) I111N probably damaging Het
Eya4 T A 10: 23,027,871 (GRCm39) Y310F probably damaging Het
Fam217b C T 2: 178,062,153 (GRCm39) S39F probably damaging Het
Fam234b G T 6: 135,202,705 (GRCm39) R353L possibly damaging Het
Focad A G 4: 88,147,572 (GRCm39) I404V probably benign Het
Il1rl1 T A 1: 40,481,833 (GRCm39) D180E probably benign Het
Il2rb A T 15: 78,369,182 (GRCm39) C256* probably null Het
Intu A C 3: 40,633,980 (GRCm39) L404F probably damaging Het
Jmy G A 13: 93,635,624 (GRCm39) T64M possibly damaging Het
Mpl C A 4: 118,311,707 (GRCm39) S302I possibly damaging Het
Mpl T A 4: 118,311,708 (GRCm39) S302C probably damaging Het
Muc2 G T 7: 141,287,951 (GRCm39) D241Y probably damaging Het
Nlrp3 C T 11: 59,437,617 (GRCm39) H99Y probably benign Het
Or5b118 A T 19: 13,448,732 (GRCm39) I133F possibly damaging Het
Or6c216 C G 10: 129,678,483 (GRCm39) V143L probably benign Het
Pglyrp1 A T 7: 18,624,238 (GRCm39) I174F probably damaging Het
Pi4ka A T 16: 17,099,815 (GRCm39) I1936N Het
Plekhm3 C T 1: 64,977,054 (GRCm39) E139K probably damaging Het
Ptpru A G 4: 131,504,148 (GRCm39) I1103T probably damaging Het
Pygl T C 12: 70,266,401 (GRCm39) D38G probably damaging Het
Rapsn T C 2: 90,872,308 (GRCm39) V214A probably benign Het
S100a9 T A 3: 90,600,234 (GRCm39) K54M probably damaging Het
Sdk2 A G 11: 113,684,570 (GRCm39) Y1964H probably damaging Het
Slc17a5 T C 9: 78,464,780 (GRCm39) N331S probably damaging Het
Snx9 T A 17: 5,958,677 (GRCm39) C252S probably damaging Het
Snx9 G T 17: 5,958,678 (GRCm39) C252F probably damaging Het
Trem1 A T 17: 48,544,220 (GRCm39) M82L probably benign 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
R6150:Pomk UTSW 8 26,473,284 (GRCm39) missense possibly damaging 0.89
R6295:Pomk UTSW 8 26,472,955 (GRCm39) missense probably damaging 0.99
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'- GAACAGCTGGGATGCCATTC -3'
(R):5'- AGACCATGACTCTGGGGTAC -3'

Sequencing Primer
(F):5'- TCAAGCACGTCACTCGATGG -3'
(R):5'- CCATGACTCTGGGGTACTTATAAAG -3'
Posted On 2017-03-31