Mutagenetix > Incidental Mutation

Incidental Mutation 'R8900:Pomk'

679909

Institutional Source

Beutler Lab

Gene Symbol

Pomk

Ensembl Gene

ENSMUSG00000037251

Gene Name

protein-O-mannose kinase

Synonyms

Sgk196, 4930444A02Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

R8900 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25980604-25994133 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25983356 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 190 (Y190H)

Ref Sequence

ENSEMBL: ENSMUSP00000053802 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061850]

AlphaFold

Q3TUA9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061850
AA Change: Y190H

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000053802
Gene: ENSMUSG00000037251
AA Change: Y190H

Domain	Start	End	E-Value	Type
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: 99.5%
20x: 98.4%

Validation Efficiency

100% (63/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	T	7: 131,302,468		probably benign	Het
Abca9	T	C	11: 110,154,392	T372A	probably benign	Het
Adamts8	C	A	9: 30,954,634	R493S	probably benign	Het
Ankrd33b	G	A	15: 31,297,684	T309I	probably damaging	Het
Arhgap22	G	A	14: 33,271,923	W58*	probably null	Het
B4galt4	C	T	16: 38,752,042		probably benign	Het
Bcl2a1a	A	T	9: 88,957,258	I70L	probably benign	Het
Bst1	A	G	5: 43,820,600	D97G	possibly damaging	Het
Cand2	C	T	6: 115,780,933	T52M	probably benign	Het
Cd101	C	A	3: 101,018,746	R219L	probably benign	Het
Cd163l1	G	A	7: 140,228,565	W796*	probably null	Het
Cd5l	T	A	3: 87,367,575	D140E	probably benign	Het
Cebpa	A	G	7: 35,120,481	M355V	possibly damaging	Het
Cfap74	G	A	4: 155,436,730	E620K		Het
Clec4a4	A	G	6: 123,023,916	E196G	probably damaging	Het
Cpxm1	T	A	2: 130,393,440	D544V	probably damaging	Het
Cwf19l2	T	A	9: 3,447,245	D535E	probably benign	Het
Daw1	T	G	1: 83,198,177	L212R	probably benign	Het
Dnm3	T	A	1: 162,307,876	T443S	probably benign	Het
Dock9	T	C	14: 121,580,528	D1627G	probably damaging	Het
Dohh	A	G	10: 81,387,901	I263V	probably benign	Het
Dsp	G	A	13: 38,181,179	V513M	probably damaging	Het
Dus4l	G	T	12: 31,640,693	L320I	possibly damaging	Het
Edc4	A	C	8: 105,891,225	Q1139P	probably damaging	Het
Fam220a	T	A	5: 143,563,473	C213*	probably null	Het
Fgf14	A	T	14: 123,983,914	Y159*	probably null	Het
Gm45861	A	T	8: 27,529,604	D749V	unknown	Het
Hip1	T	C	5: 135,430,290	T203A	probably benign	Het
Igfals	A	G	17: 24,880,040	D35G	possibly damaging	Het
Itga4	T	A	2: 79,314,988	I716K	probably damaging	Het
Ncaph2	T	A	15: 89,369,391	I282N	probably benign	Het
Ndufb3	T	C	1: 58,595,665	Y59H	probably damaging	Het
Nxpe3	T	C	16: 55,844,660	H399R	probably damaging	Het
Nxph1	T	C	6: 9,247,601	S191P	probably damaging	Het
Olfr29-ps1	G	T	4: 43,781,432	S299R	probably benign	Het
Olfr59	T	C	11: 74,289,587	S314P	probably damaging	Het
Pcdha11	T	G	18: 37,012,746	I630S	probably damaging	Het
Pfkl	C	G	10: 78,000,781	G134A	probably damaging	Het
Phf19	A	T	2: 34,905,472	C196S	probably damaging	Het
Piezo2	T	C	18: 63,115,025	K468R	probably benign	Het
Plekhn1	T	C	4: 156,225,621	S79G	possibly damaging	Het
Ppp1r13b	T	A	12: 111,872,344	E33D	probably damaging	Het
Raly	A	T	2: 154,863,573	I174F	probably damaging	Het
Rint1	T	C	5: 23,811,884	V549A	possibly damaging	Het
Rnf31	T	G	14: 55,596,232	C566G	probably damaging	Het
Sdc1	C	T	12: 8,790,460	T79I	possibly damaging	Het
Sema6a	T	G	18: 47,291,115	E242A	probably damaging	Het
Slc22a30	A	C	19: 8,337,976	M430R	probably damaging	Het
Sp9	C	A	2: 73,273,519	T139K	probably benign	Het
Tbkbp1	T	C	11: 97,149,501	D29G	probably benign	Het
Tcf4	T	C	18: 69,564,690		probably benign	Het
Tenm3	A	T	8: 48,236,402	I2050N	probably damaging	Het
Tiparp	T	A	3: 65,553,182	F531I	probably damaging	Het
Tmem132b	A	T	5: 125,778,820	I539F	probably damaging	Het
Ttf2	T	C	3: 100,952,640	D666G	probably damaging	Het
Vmn1r51	T	C	6: 90,129,860	S253P	probably damaging	Het
Vmn2r104	A	G	17: 20,041,662	I402T	probably damaging	Het
Vmn2r16	T	C	5: 109,363,753	Y609H	probably benign	Het
Vmn2r17	A	T	5: 109,427,997	M245L	probably benign	Het
Vmn2r42	C	T	7: 8,194,793	E276K	probably benign	Het
Wdr75	C	A	1: 45,799,127	N65K	probably damaging	Het
Zfhx4	T	C	3: 5,398,864	S1361P	probably damaging	Het
Zfp317	T	A	9: 19,647,412	C396*	probably null	Het
Zfp651	A	C	9: 121,767,639	K687T	probably damaging	Het

Other mutations in Pomk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00814:Pomk	APN	8	25983596	missense	probably benign	0.21
IGL02678:Pomk	APN	8	25983107	missense	probably damaging	0.97
IGL03090:Pomk	APN	8	25983310	missense	probably damaging	0.99
R1302:Pomk	UTSW	8	25983074	missense	probably damaging	1.00
R3105:Pomk	UTSW	8	25982914	missense	probably damaging	1.00
R4646:Pomk	UTSW	8	25983605	missense	probably damaging	1.00
R5106:Pomk	UTSW	8	25986376	missense	probably benign	0.00
R5343:Pomk	UTSW	8	25983016	missense	probably benign	0.09
R5572:Pomk	UTSW	8	25983190	missense	possibly damaging	0.88
R5953:Pomk	UTSW	8	25983048	missense	probably damaging	1.00
R6150:Pomk	UTSW	8	25983256	missense	possibly damaging	0.89
R6295:Pomk	UTSW	8	25982927	missense	probably damaging	0.99
R8719:Pomk	UTSW	8	25983475	missense	possibly damaging	0.88
R8841:Pomk	UTSW	8	25986379	missense	probably benign
R9495:Pomk	UTSW	8	25983316	missense	probably damaging	1.00
R9572:Pomk	UTSW	8	25982908	missense	possibly damaging	0.80
R9756:Pomk	UTSW	8	25982890	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- AAATCCCCATGGAGCTCTCTG -3'
(R):5'- TCACCAGGCTGGAGATGAAG -3'

Sequencing Primer
(F):5'- GTGGCCACACTTTATAAGTACCC -3'
(R):5'- CTGCAGATGCTGAAGTCTCTACAG -3'

Posted On

2021-08-31