Mutagenetix > Incidental Mutation

Incidental Mutation 'R8719:Pomk'

670014

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 #

R8719 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25980604-25994133 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25983475 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 150 (Y150F)

Ref Sequence

ENSEMBL: ENSMUSP00000053802 (fasta)

Gene Model

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

AlphaFold

Q3TUA9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061850
AA Change: Y150F

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000053802
Gene: ENSMUSG00000037251
AA Change: Y150F

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: 99.7%
20x: 99.2%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	T	C	8: 46,513,663	I224T	probably benign	Het
Adamts20	C	G	15: 94,344,022	A702P	probably damaging	Het
Ahdc1	T	A	4: 133,064,222	Y925N	possibly damaging	Het
Anapc1	T	C	2: 128,641,449	E1242G	probably damaging	Het
Angptl2	A	G	2: 33,243,902	N412S	possibly damaging	Het
Aox3	T	C	1: 58,119,537	V89A	probably damaging	Het
Atxn1l	A	T	8: 109,733,229	S134T	possibly damaging	Het
Brf1	C	A	12: 112,979,684		probably benign	Het
Cab39l	A	T	14: 59,496,865	H11L	probably benign	Het
Cabcoco1	A	G	10: 68,436,841		probably benign	Het
Ccdc150	C	A	1: 54,263,509	P96Q	probably benign	Het
Chek2	T	C	5: 110,867,042	V459A	probably damaging	Het
Cntnap2	A	T	6: 46,001,227	D272V	probably damaging	Het
Cspp1	T	C	1: 10,090,291	S572P	possibly damaging	Het
Cysltr2	T	C	14: 73,029,671	T200A	possibly damaging	Het
Dglucy	T	C	12: 100,838,562	L104P	probably damaging	Het
Dnah8	T	A	17: 30,741,315	M2222K	probably damaging	Het
Dync2h1	C	A	9: 7,041,641	V3334F	probably benign	Het
Ear2	A	T	14: 44,103,277	T131S	possibly damaging	Het
Eef1akmt2	A	T	7: 132,850,611	V92D	probably damaging	Het
Fam83c	T	A	2: 155,829,208	Q769L	probably benign	Het
Fanca	A	T	8: 123,288,128	C812S	probably benign	Het
Gm21663	T	G	5: 25,941,164	R50S	probably damaging	Het
Gm5591	T	G	7: 38,522,190	S152R	probably benign	Het
Gm6370	T	G	5: 146,493,816	D270E	probably damaging	Het
H2-T22	T	C	17: 36,041,943	I91V	probably benign	Het
Hdac5	T	C	11: 102,207,137	M61V	probably benign	Het
Hsd17b6	A	G	10: 127,993,623	S237P	possibly damaging	Het
Khk	T	A	5: 30,931,030	F294I	possibly damaging	Het
Klc1	G	A	12: 111,806,075		probably benign	Het
Lamb3	T	C	1: 193,323,791	W143R	probably damaging	Het
Lmo2	T	C	2: 103,980,919	I171T	probably damaging	Het
Meis1	A	G	11: 18,885,587	S344P	probably benign	Het
Nf1	C	A	11: 79,390,293	R125S	possibly damaging	Het
Nrcam	A	G	12: 44,539,542	E105G	probably benign	Het
Nudt22	T	C	19: 6,995,270	D150G	possibly damaging	Het
Olfr1434	A	G	19: 12,283,428	I127V	probably benign	Het
Olfr1463	A	G	19: 13,234,472	Y74C	probably damaging	Het
Olfr761	T	C	17: 37,953,004	T7A	probably damaging	Het
Pclo	A	T	5: 14,713,764	R799*	probably null	Het
Pelp1	T	C	11: 70,401,963	N175S	probably damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,218,068		probably benign	Het
Pik3r4	C	A	9: 105,682,195	S1162R	probably benign	Het
Pkd1l3	A	T	8: 109,614,623	N36I	unknown	Het
Rdh11	T	A	12: 79,182,800	H233L	probably benign	Het
Rln1	A	T	19: 29,331,881	M166K	probably benign	Het
Rnf40	T	A	7: 127,592,662	L356Q	probably damaging	Het
Sin3b	G	T	8: 72,723,511	G19W	unknown	Het
Slc6a15	A	G	10: 103,404,315	R300G	probably damaging	Het
Sncaip	A	T	18: 52,894,838	K433M	probably damaging	Het
Tead2	A	T	7: 45,232,892		probably benign	Het
Tespa1	A	G	10: 130,348,239	D63G	probably benign	Het
Tmem117	T	C	15: 95,094,367	F303L	probably damaging	Het
Tmem270	T	G	5: 134,901,796	T204P	probably damaging	Het
Trip12	A	G	1: 84,745,069	V1320A	probably damaging	Het
Ttc7b	A	G	12: 100,301,553	L843P	probably damaging	Het
Ttn	T	C	2: 76,712,697	Y33315C	probably damaging	Het
Ttn	A	G	2: 76,776,802	V17959A	possibly damaging	Het
Vmn2r73	A	G	7: 85,871,887	V291A	probably damaging	Het
Ywhag	T	A	5: 135,911,144	T199S	probably benign	Het
Zfp810	T	C	9: 22,279,275	T77A	probably benign	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
R8841:Pomk	UTSW	8	25986379	missense	probably benign
R8900:Pomk	UTSW	8	25983356	missense	possibly damaging	0.79
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'- ACTGGGACAATGTTTTGGGC -3'
(R):5'- AGAGAGTCCAGGAATGATGTTC -3'

Sequencing Primer
(F):5'- CAGGTCGTTAGAGTCACACATG -3'
(R):5'- AGAGTCCAGGAATGATGTTCTCTGTG -3'

Posted On

2021-04-30