Mutagenetix > Incidental Mutation

Incidental Mutation 'R6150:Pomk'

489190

Institutional Source

Beutler Lab

Gene Symbol

Pomk

Ensembl Gene

ENSMUSG00000037251

Gene Name

protein-O-mannose kinase

Synonyms

4930444A02Rik, Sgk196

MMRRC Submission

044297-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.250) question?

Stock #

R6150 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26470632-26484149 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26473284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 223 (V223A)

Ref Sequence

ENSEMBL: ENSMUSP00000053802 (fasta)

Gene Model

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

AlphaFold

Q3TUA9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061850
AA Change: V223A

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000053802
Gene: ENSMUSG00000037251
AA Change: V223A

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

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

97% (56/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3a1	A	G	11: 61,104,334 (GRCm39)	T74A	probably benign	Het
Arhgef1	T	C	7: 24,618,782 (GRCm39)		probably null	Het
Art1	C	G	7: 101,756,294 (GRCm39)	R162G	probably benign	Het
Boll	T	A	1: 55,309,812 (GRCm39)	I280F	possibly damaging	Het
Cep44	T	C	8: 56,992,840 (GRCm39)	E258G	probably benign	Het
Cutc	T	A	19: 43,748,328 (GRCm39)	V75E	probably damaging	Het
Dtx1	T	C	5: 120,819,428 (GRCm39)	K590R	probably damaging	Het
Eps8	A	T	6: 137,494,172 (GRCm39)	D295E	probably damaging	Het
Erc2	C	A	14: 27,863,248 (GRCm39)	S491Y	probably damaging	Het
F2rl3	G	T	8: 73,489,366 (GRCm39)	A198S	probably benign	Het
Fam83b	G	A	9: 76,399,639 (GRCm39)	T488M	probably damaging	Het
Fitm2	A	G	2: 163,311,994 (GRCm39)	L73P	probably damaging	Het
Fxyd1	T	C	7: 30,754,228 (GRCm39)		probably null	Het
Gm17186	T	C	14: 51,918,183 (GRCm39)		noncoding transcript	Het
Hivep3	C	A	4: 119,591,274 (GRCm39)	S94*	probably null	Het
Ifna1	T	A	4: 88,768,349 (GRCm39)	M9K	probably null	Het
Igsf11	G	A	16: 38,843,711 (GRCm39)	E275K	probably damaging	Het
Itga1	G	A	13: 115,104,769 (GRCm39)	L1086F	probably benign	Het
Itgav	T	C	2: 83,606,780 (GRCm39)	S374P	probably benign	Het
Jmy	A	T	13: 93,577,641 (GRCm39)	N842K	probably benign	Het
Kcnh6	G	A	11: 105,911,557 (GRCm39)	V595M	possibly damaging	Het
Kif13b	T	A	14: 64,989,088 (GRCm39)	I823N	probably damaging	Het
Kif26b	T	C	1: 178,743,111 (GRCm39)	L1069P	probably damaging	Het
Kl	T	A	5: 150,912,318 (GRCm39)	M689K	possibly damaging	Het
Kmt2b	G	T	7: 30,287,902 (GRCm39)		probably benign	Het
Map10	G	A	8: 126,398,328 (GRCm39)	D574N	probably damaging	Het
Mau2	A	T	8: 70,472,487 (GRCm39)	H565Q	probably benign	Het
Myb	A	G	10: 21,017,668 (GRCm39)	I641T	probably damaging	Het
Naaladl2	C	A	3: 24,606,214 (GRCm39)	G15V	probably null	Het
Or10k2	G	A	8: 84,267,782 (GRCm39)	C3Y	probably benign	Het
Or3a4	A	C	11: 73,945,145 (GRCm39)	S147A	probably benign	Het
Or6c210	A	G	10: 129,495,803 (GRCm39)	I43V	probably benign	Het
Or7d11	A	T	9: 19,966,170 (GRCm39)	N78K	probably benign	Het
Otog	A	G	7: 45,913,483 (GRCm39)	E772G	possibly damaging	Het
Pla2g4d	T	C	2: 120,100,045 (GRCm39)	D674G	probably damaging	Het
Pmpcb	A	G	5: 21,942,137 (GRCm39)		probably null	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Serpina1e	A	G	12: 103,917,066 (GRCm39)	V201A	probably benign	Het
Six5	C	T	7: 18,831,446 (GRCm39)	P646S	probably benign	Het
Slc17a9	A	G	2: 180,379,421 (GRCm39)	I298V	probably benign	Het
Slc37a2	G	T	9: 37,149,643 (GRCm39)	T188K	probably damaging	Het
Slc6a11	T	A	6: 114,222,579 (GRCm39)	F525I	probably benign	Het
Slit2	A	T	5: 48,461,516 (GRCm39)	D1504V	probably damaging	Het
Srcap	T	A	7: 127,134,000 (GRCm39)	M907K	probably damaging	Het
Sspo	T	C	6: 48,463,313 (GRCm39)	L3746P	probably benign	Het
Supv3l1	A	T	10: 62,271,501 (GRCm39)	N376K	possibly damaging	Het
Tekt3	A	T	11: 62,985,483 (GRCm39)	T430S	possibly damaging	Het
Tex2	A	T	11: 106,457,906 (GRCm39)	V508D	probably benign	Het
Tmem184c	G	T	8: 78,323,069 (GRCm39)	Q598K	probably benign	Het
Ube2v1	G	A	2: 167,459,874 (GRCm39)	R42*	probably null	Het
Usp45	A	C	4: 21,810,797 (GRCm39)	D331A	probably damaging	Het
Vangl1	T	C	3: 102,091,835 (GRCm39)	T84A	probably damaging	Het
Vgll3	T	A	16: 65,625,064 (GRCm39)		probably null	Het
Vmn1r61	T	A	7: 5,613,678 (GRCm39)	H212L	probably benign	Het
Vmn2r114	A	G	17: 23,510,269 (GRCm39)	V737A	probably benign	Het
Vmn2r35	A	T	7: 7,789,555 (GRCm39)	D727E	probably damaging	Het
Vps18	T	A	2: 119,128,073 (GRCm39)	Y965*	probably null	Het
Zfp521	A	T	18: 13,977,135 (GRCm39)	C1093S	probably damaging	Het
Zfp971	A	C	2: 177,675,247 (GRCm39)	H282P	probably benign	Het

Other mutations in Pomk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- AACTGGAGACATCTGGAATCTTC -3'
(R):5'- GTTCCTTGAGCAACCTGGAAG -3'

Sequencing Primer
(F):5'- CCAGATGTCAACCTTCTCATTGTAGG -3'
(R):5'- TTGAGCAACCTGGAAGAAACAC -3'

Posted On

2017-10-10