Incidental Mutation 'R3105:Pomk'
ID 263008
Institutional Source Beutler Lab
Gene Symbol Pomk
Ensembl Gene ENSMUSG00000037251
Gene Name protein-O-mannose kinase
Synonyms 4930444A02Rik, Sgk196
MMRRC Submission 040579-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.300) question?
Stock # R3105 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 26470632-26484149 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 26472942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 337 (L337R)
Ref Sequence ENSEMBL: ENSMUSP00000053802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061850]
AlphaFold Q3TUA9
Predicted Effect probably damaging
Transcript: ENSMUST00000061850
AA Change: L337R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000053802
Gene: ENSMUSG00000037251
AA Change: L337R

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
Meta Mutation Damage Score 0.2974 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 100% (44/44)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 T C 1: 75,151,687 (GRCm39) probably benign Het
Abhd13 T C 8: 10,037,931 (GRCm39) V176A probably benign Het
Alpk2 A T 18: 65,483,281 (GRCm39) S242R possibly damaging Het
Baz2a AGCGGCGGTACTTGCGGG AG 10: 127,960,946 (GRCm39) probably null Het
Ccdc163 C A 4: 116,566,697 (GRCm39) Q58K probably benign Het
Ccdc191 T C 16: 43,751,573 (GRCm39) F301S probably damaging Het
Clca4b A T 3: 144,622,432 (GRCm39) N544K probably benign Het
Col6a3 T C 1: 90,744,024 (GRCm39) R515G probably damaging Het
Dgkg T A 16: 22,394,091 (GRCm39) T321S probably damaging Het
Dip2b C A 15: 100,040,018 (GRCm39) C138* probably null Het
Dnaja2 G A 8: 86,281,857 (GRCm39) T7M probably damaging Het
Ezh1 A C 11: 101,086,468 (GRCm39) C575W probably damaging Het
F11 T A 8: 45,698,754 (GRCm39) Q463H probably damaging Het
Gfpt1 A G 6: 87,034,628 (GRCm39) D142G probably benign Het
Gm8730 T C 8: 103,591,895 (GRCm39) noncoding transcript Het
Grm1 A G 10: 10,955,601 (GRCm39) S228P probably benign Het
Hnf4g T G 3: 3,717,916 (GRCm39) S388R probably benign Het
Il1rap A G 16: 26,541,502 (GRCm39) E581G probably benign Het
Lrp4 T C 2: 91,331,394 (GRCm39) Y1585H probably benign Het
Magi3 A G 3: 103,958,636 (GRCm39) V483A probably damaging Het
Map2 T C 1: 66,472,756 (GRCm39) probably null Het
Or4a78 T C 2: 89,497,302 (GRCm39) I309M probably benign Het
Osgep T C 14: 51,154,286 (GRCm39) T225A probably benign Het
Otof A G 5: 30,539,145 (GRCm39) Y1090H probably benign Het
Pgr T A 9: 8,958,397 (GRCm39) F801L probably benign Het
Prune2 T A 19: 17,096,520 (GRCm39) S675T probably damaging Het
Rnpepl1 C T 1: 92,844,102 (GRCm39) L278F probably damaging Het
Sars1 C T 3: 108,336,621 (GRCm39) R302H probably damaging Het
Sbspon T C 1: 15,962,806 (GRCm39) E24G probably benign Het
Sec16a G A 2: 26,328,433 (GRCm39) P1194L probably benign Het
Sfmbt1 G A 14: 30,539,753 (GRCm39) C847Y probably damaging Het
Slc22a29 T C 19: 8,147,337 (GRCm39) T342A probably benign Het
Spaca1 G A 4: 34,028,468 (GRCm39) T283M probably damaging Het
Stradb C A 1: 59,031,450 (GRCm39) H212Q possibly damaging Het
Taf6l C T 19: 8,756,219 (GRCm39) S208N probably damaging Het
Tkfc G T 19: 10,574,357 (GRCm39) C198* probably null Het
Tm4sf4 C T 3: 57,345,043 (GRCm39) R150C possibly damaging Het
Tmem212 T C 3: 27,939,019 (GRCm39) S156G probably damaging Het
Tmigd1 A G 11: 76,801,124 (GRCm39) T204A possibly damaging Het
Tsga10 G A 1: 37,840,872 (GRCm39) L445F probably damaging Het
Urb1 C T 16: 90,592,331 (GRCm39) V310I probably damaging Het
Vmn1r205 T C 13: 22,777,109 (GRCm39) 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
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
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'- CTCAAACATGCAGGCAGACG -3'
(R):5'- CCCTTCCAAGACGATCTCATG -3'

Sequencing Primer
(F):5'- CAGACGTAGAGGAGGCCTAC -3'
(R):5'- GCCTTCCTACAATGAGAAGGTTGAC -3'
Posted On 2015-02-05