Mutagenetix > Incidental Mutation

Incidental Mutation 'R8841:Pomk'

674421

Institutional Source

Beutler Lab

Gene Symbol

Pomk

Ensembl Gene

ENSMUSG00000037251

Gene Name

protein-O-mannose kinase

Synonyms

4930444A02Rik, Sgk196

MMRRC Submission

068732-MU

Accession Numbers

Essential gene?

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

Stock #

R8841 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26470632-26484149 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 26476407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 49 (A49V)

Ref Sequence

ENSEMBL: ENSMUSP00000053802 (fasta)

Gene Model

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

AlphaFold

Q3TUA9

Predicted Effect

probably benign
Transcript: ENSMUST00000061850
AA Change: A49V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000053802
Gene: ENSMUSG00000037251
AA Change: A49V

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: 100.0%
10x: 99.8%
20x: 99.3%

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
Abca1	C	T	4: 53,143,925 (GRCm39)		probably benign	Het
Chaf1b	C	T	16: 93,701,908 (GRCm39)	T510I	probably benign	Het
Chrd	T	A	16: 20,554,487 (GRCm39)		probably benign	Het
Dennd2d	A	G	3: 106,393,580 (GRCm39)	Q11R	probably benign	Het
Dmrta1	A	C	4: 89,579,950 (GRCm39)	R303S	probably benign	Het
Emsy	A	G	7: 98,264,768 (GRCm39)	I543T	possibly damaging	Het
Fbxw2	G	A	2: 34,712,844 (GRCm39)		probably benign	Het
Fndc1	A	G	17: 7,992,181 (GRCm39)	V505A	unknown	Het
Foxf1	T	C	8: 121,811,919 (GRCm39)	V261A	probably damaging	Het
Fyb1	T	C	15: 6,681,972 (GRCm39)	V773A	probably damaging	Het
Gask1b	A	G	3: 79,794,426 (GRCm39)	E298G	probably benign	Het
Glp2r	G	T	11: 67,653,555 (GRCm39)	P77T	probably damaging	Het
Gpam	C	A	19: 55,066,950 (GRCm39)	D522Y	probably damaging	Het
Hpgd	T	A	8: 56,760,709 (GRCm39)	N135K	probably damaging	Het
Hsph1	T	A	5: 149,550,789 (GRCm39)	R437W	probably damaging	Het
Kif1c	G	A	11: 70,615,659 (GRCm39)	V588I	probably benign	Het
Klhdc4	T	A	8: 122,523,380 (GRCm39)	E554V	possibly damaging	Het
Krt33a	A	G	11: 99,904,961 (GRCm39)	S182P	probably damaging	Het
Lad1	A	G	1: 135,754,970 (GRCm39)	D82G	probably benign	Het
Lin7a	A	G	10: 107,218,524 (GRCm39)	R145G	possibly damaging	Het
Lmna	A	G	3: 88,391,920 (GRCm39)		probably null	Het
Lrrc8b	T	C	5: 105,628,188 (GRCm39)	V178A	probably benign	Het
Lrwd1	T	C	5: 136,152,037 (GRCm39)	R647G	possibly damaging	Het
Mapt	A	G	11: 104,201,203 (GRCm39)	E153G	probably damaging	Het
Mefv	C	T	16: 3,528,842 (GRCm39)	C563Y	probably benign	Het
Myo7b	T	C	18: 32,097,490 (GRCm39)	N1792S	probably benign	Het
Nkx6-3	C	T	8: 23,646,274 (GRCm39)	T148M	probably damaging	Het
Nomo1	T	A	7: 45,707,911 (GRCm39)	S573T	probably benign	Het
Ntrk3	G	T	7: 78,005,841 (GRCm39)	R507S	probably damaging	Het
Or2v2	A	C	11: 49,003,938 (GRCm39)	I205S	probably benign	Het
Or4k15	T	A	14: 50,364,666 (GRCm39)	F211I	probably damaging	Het
Or52e5	T	A	7: 104,719,479 (GRCm39)	N268K	possibly damaging	Het
Or6c200-ps1	A	G	10: 128,870,042 (GRCm39)	V223A	probably benign	Het
Or7e168	A	T	9: 19,719,885 (GRCm39)	R90S	probably benign	Het
Or8g21	A	G	9: 38,905,879 (GRCm39)	M284T	possibly damaging	Het
Pcdhb8	A	G	18: 37,488,699 (GRCm39)	I126V	probably benign	Het
Phactr4	A	G	4: 132,092,884 (GRCm39)		probably null	Het
Pign	T	C	1: 105,485,634 (GRCm39)		probably benign	Het
Plekhn1	A	G	4: 156,316,655 (GRCm39)	L342P	probably damaging	Het
Prss50	A	G	9: 110,687,480 (GRCm39)	D141G	probably benign	Het
Ralgps1	A	C	2: 33,045,329 (GRCm39)	F406L	probably benign	Het
Rexo5	G	A	7: 119,448,011 (GRCm39)	S752N	probably benign	Het
Rin3	A	T	12: 102,335,537 (GRCm39)	I483L	probably benign	Het
Scn1a	T	A	2: 66,156,466 (GRCm39)	D481V	probably benign	Het
Scnn1a	T	C	6: 125,320,208 (GRCm39)	I554T	probably damaging	Het
Shc2	A	G	10: 79,458,150 (GRCm39)	V511A	probably damaging	Het
Slc18a2	C	T	19: 59,261,713 (GRCm39)	S200F	probably damaging	Het
Slc25a38	A	G	9: 119,949,845 (GRCm39)	D208G	probably damaging	Het
Smok3c	C	A	5: 138,063,537 (GRCm39)	D341E	probably damaging	Het
Tfcp2	A	G	15: 100,410,989 (GRCm39)	I373T	probably damaging	Het
Tnpo3	T	A	6: 29,589,182 (GRCm39)	D56V	probably damaging	Het
Trrap	T	A	5: 144,781,021 (GRCm39)	Y3261N	probably damaging	Het
Ttll12	A	T	15: 83,465,993 (GRCm39)		probably benign	Het
Ulk4	A	G	9: 121,033,804 (GRCm39)	C612R	probably damaging	Het
Ush1g	G	T	11: 115,210,007 (GRCm39)	D62E	probably damaging	Het
Vmn2r124	A	G	17: 18,283,299 (GRCm39)	N331S		Het
Vmn2r4	T	C	3: 64,314,058 (GRCm39)	I308V	probably damaging	Het
Vwa8	T	A	14: 79,184,702 (GRCm39)	V400E	probably benign	Het
Washc2	A	G	6: 116,235,916 (GRCm39)	D1129G	probably benign	Het
Washc5	G	T	15: 59,206,971 (GRCm39)	Q1101K	probably damaging	Het
Wfdc17	G	T	11: 83,594,938 (GRCm39)	L7F	probably benign	Het
Xpo4	T	C	14: 57,835,413 (GRCm39)	K636R	probably damaging	Het
Zan	T	A	5: 137,454,936 (GRCm39)	T1367S	unknown	Het
Zfp691	A	T	4: 119,027,861 (GRCm39)	S124T	probably damaging	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
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
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'- ATCGTTCTTCCAGCGATGC -3'
(R):5'- GCAGACAATGGTGCTTGCTAC -3'

Sequencing Primer
(F):5'- GCAGCAAGCAGGAATACT -3'
(R):5'- AGACAATGGTGCTTGCTACTCATTG -3'

Posted On

2021-07-15