Mutagenetix > Incidental Mutation

Incidental Mutation 'R5572:Pomk'

435737

Institutional Source

Beutler Lab

Gene Symbol

Pomk

Ensembl Gene

ENSMUSG00000037251

Gene Name

protein-O-mannose kinase

Synonyms

4930444A02Rik, Sgk196

MMRRC Submission

043266-MU

Accession Numbers

Essential gene?

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

Stock #

R5572 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26470632-26484149 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26473218 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 245 (H245L)

Ref Sequence

ENSEMBL: ENSMUSP00000053802 (fasta)

Gene Model

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

AlphaFold

Q3TUA9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061850
AA Change: H245L

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000053802
Gene: ENSMUSG00000037251
AA Change: H245L

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

0.2913

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.2%

Validation Efficiency

100% (64/64)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	C	T	5: 8,765,108 (GRCm39)		probably null	Het
Abcd4	T	C	12: 84,653,050 (GRCm39)	D380G	probably benign	Het
Actr3b	T	A	5: 26,014,886 (GRCm39)	D68E	probably benign	Het
Apol10a	T	C	15: 77,372,834 (GRCm39)	S157P	probably damaging	Het
Arap3	A	T	18: 38,124,119 (GRCm39)	I327N	probably damaging	Het
Arnt	G	T	3: 95,382,015 (GRCm39)	V198L	possibly damaging	Het
Baiap3	T	A	17: 25,470,449 (GRCm39)	D86V	possibly damaging	Het
Bcl9l	G	T	9: 44,412,095 (GRCm39)	R27L	possibly damaging	Het
Bltp2	A	T	11: 78,155,393 (GRCm39)	D167V	probably damaging	Het
C1qc	T	C	4: 136,619,773 (GRCm39)	Y34C	probably benign	Het
C1rb	T	C	6: 124,557,758 (GRCm39)	S632P	probably benign	Het
C3	A	G	17: 57,531,673 (GRCm39)	S284P	probably damaging	Het
Cfap44	T	G	16: 44,301,668 (GRCm39)	V1802G	possibly damaging	Het
Cfhr1	A	G	1: 139,484,165 (GRCm39)	V117A	possibly damaging	Het
Clca3b	T	C	3: 144,533,070 (GRCm39)	D654G	probably damaging	Het
Col17a1	A	T	19: 47,639,168 (GRCm39)	S1126T	probably benign	Het
Cts3	T	A	13: 61,712,782 (GRCm39)	I313F	probably damaging	Het
Egfl7	T	C	2: 26,481,703 (GRCm39)	V6A	possibly damaging	Het
Eif2s3y	G	A	Y: 1,016,631 (GRCm39)	D272N	probably damaging	Het
Foxp4	A	G	17: 48,191,804 (GRCm39)	V111A	unknown	Het
Hmcn2	A	T	2: 31,304,537 (GRCm39)		probably null	Het
Hmcn2	G	A	2: 31,304,538 (GRCm39)		probably null	Het
Igsf11	C	T	16: 38,845,294 (GRCm39)	R283C	probably damaging	Het
Il1a	A	G	2: 129,149,838 (GRCm39)	Y21H	possibly damaging	Het
Il6ra	A	T	3: 89,778,589 (GRCm39)	V420D	probably damaging	Het
Kdm5a	T	C	6: 120,389,336 (GRCm39)	V921A	possibly damaging	Het
Kirrel3	G	A	9: 34,912,244 (GRCm39)	A196T	probably damaging	Het
Klra1	T	A	6: 130,349,802 (GRCm39)	D212V	possibly damaging	Het
N4bp2l2	G	A	5: 150,585,755 (GRCm39)	T75I	probably benign	Het
Niban1	T	C	1: 151,584,941 (GRCm39)	S513P	probably benign	Het
Nnmt	A	G	9: 48,503,447 (GRCm39)	L193P	probably damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Ntm	A	G	9: 28,925,512 (GRCm39)	I191T	probably damaging	Het
Or2ak5	A	G	11: 58,611,055 (GRCm39)	V273A	probably benign	Het
Or52d13	A	C	7: 103,109,905 (GRCm39)	L170R	probably benign	Het
Or52h7	A	T	7: 104,214,201 (GRCm39)	T258S	probably benign	Het
Pam	A	C	1: 97,782,469 (GRCm39)		probably benign	Het
Rapgef4	G	A	2: 71,864,464 (GRCm39)		probably null	Het
Rasip1	G	T	7: 45,286,153 (GRCm39)	R792L	probably benign	Het
Ret	T	C	6: 118,132,392 (GRCm39)	Y1016C	probably damaging	Het
Rhbdd1	A	T	1: 82,318,531 (GRCm39)	N138I	possibly damaging	Het
Snx13	T	G	12: 35,153,119 (GRCm39)	V383G	probably damaging	Het
Syt3	A	G	7: 44,040,142 (GRCm39)	H125R	probably benign	Het
Tlr6	A	T	5: 65,112,361 (GRCm39)	L182Q	probably damaging	Het
Tlr9	T	C	9: 106,102,836 (GRCm39)	V709A	possibly damaging	Het
Tmprss6	T	C	15: 78,326,622 (GRCm39)	Y655C	probably damaging	Het
Ttn	A	T	2: 76,683,972 (GRCm39)		probably benign	Het
Ube3a	T	C	7: 58,938,525 (GRCm39)	I761T	probably damaging	Het
Ube3b	G	A	5: 114,544,240 (GRCm39)	D546N	probably damaging	Het
Ugt2b36	A	G	5: 87,237,341 (GRCm39)	V188A	possibly damaging	Het
Usp29	A	G	7: 6,965,191 (GRCm39)	I345V	probably benign	Het
Vmn2r78	A	G	7: 86,564,720 (GRCm39)	K55R	probably benign	Het
Wdsub1	A	G	2: 59,693,051 (GRCm39)	F288L	possibly damaging	Het
Zan	C	T	5: 137,392,693 (GRCm39)	V4601M	unknown	Het
Zbtb8b	T	C	4: 129,322,334 (GRCm39)	K376E	probably damaging	Het
Zfp619	A	T	7: 39,184,663 (GRCm39)	Y231F	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
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'- CTAGCACGTTCTGAGCAGTG -3'
(R):5'- TTAACTATCTGCATCACAGCCC -3'

Sequencing Primer
(F):5'- CTTGCACGCCTTATGGATATCAAAC -3'
(R):5'- TGCATCACAGCCCCCTGG -3'

Posted On

2016-10-24