Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03001:Popdc2'

407360

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Popdc2

Ensembl Gene

ENSMUSG00000022803

Gene Name

popeye domain containing 2

Synonyms

Pop2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03001

Quality Score

Status

Chromosome

Chromosomal Location

38182571-38198578 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38189881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 176 (Y176F)

Ref Sequence

ENSEMBL: ENSMUSP00000023494 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023494] [ENSMUST00000114739]

AlphaFold

Q9ES82

Predicted Effect

probably benign
Transcript: ENSMUST00000023494
AA Change: Y176F

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000023494
Gene: ENSMUSG00000022803
AA Change: Y176F

Domain	Start	End	E-Value	Type
Pfam:Popeye	25	251	6.9e-98	PFAM
low complexity region	306	317	N/A	INTRINSIC
low complexity region	320	334	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114739
AA Change: Y176F

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000110387
Gene: ENSMUSG00000022803
AA Change: Y176F

Domain	Start	End	E-Value	Type
transmembrane domain	48	70	N/A	INTRINSIC
transmembrane domain	77	99	N/A	INTRINSIC
Pfam:Popeye	107	260	2.8e-76	PFAM
low complexity region	306	317	N/A	INTRINSIC
low complexity region	320	334	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127892

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141189

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146342

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the Popeye domain containing family of membrane proteins. Proteins of this family contain three helical transmembrane domains and a conserved intracellular Popeye domain. In the adult mouse, this gene is expressed at high levels in cardiac myocytes, and mice deficient for this gene develop stress-induced cardiac pacemaker dysfunction. The protein binds to a two-pore domain potassium channel and recruits it to the plasma membrane. Cyclic adenosine monophosphate negatively regulates this interaction through the Popeye domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit sinus brachycardia in response to physical or mental stress and catecholamines with a compact sinoatrial node. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	C	7: 78,761,042 (GRCm39)	D1918A	probably damaging	Het
Ahcy	C	A	2: 154,906,748 (GRCm39)	D182Y	probably damaging	Het
Aldob	T	G	4: 49,542,844 (GRCm39)	D110A	probably damaging	Het
Alkbh8	A	T	9: 3,344,602 (GRCm39)	M53L	probably benign	Het
Aqr	T	C	2: 113,977,400 (GRCm39)	D363G	probably benign	Het
Asxl3	A	G	18: 22,650,455 (GRCm39)	R815G	probably damaging	Het
Atf4	T	A	15: 80,140,858 (GRCm39)	W83R	probably damaging	Het
Baz1a	A	T	12: 54,969,896 (GRCm39)	M587K	possibly damaging	Het
Btbd8	T	C	5: 107,645,708 (GRCm39)	I9T	probably damaging	Het
Cactin	T	A	10: 81,161,568 (GRCm39)	I700N	probably damaging	Het
Catsperg2	T	C	7: 29,424,504 (GRCm39)	S95G	probably benign	Het
Cd1d1	C	T	3: 86,905,468 (GRCm39)	S175N	probably benign	Het
Chd4	C	A	6: 125,078,529 (GRCm39)	A217E	possibly damaging	Het
Cnbd2	T	C	2: 156,175,554 (GRCm39)		probably null	Het
Cntnap5c	G	A	17: 58,362,634 (GRCm39)	C329Y	probably damaging	Het
Col12a1	C	T	9: 79,540,955 (GRCm39)	G2391R	probably damaging	Het
Col5a3	T	A	9: 20,719,040 (GRCm39)	D238V	unknown	Het
Cuedc1	T	C	11: 88,073,315 (GRCm39)	V160A	probably benign	Het
Depdc5	T	C	5: 33,102,434 (GRCm39)	V342A	possibly damaging	Het
Dnah6	T	C	6: 73,126,123 (GRCm39)	D1338G	probably benign	Het
Dpyd	T	C	3: 118,710,891 (GRCm39)	V433A	probably benign	Het
Epb41l5	T	C	1: 119,545,374 (GRCm39)	H179R	probably damaging	Het
Fbf1	T	C	11: 116,056,712 (GRCm39)		probably benign	Het
Flnb	T	C	14: 7,934,680 (GRCm38)	S2251P	probably damaging	Het
Fsip2	A	T	2: 82,820,968 (GRCm39)		probably benign	Het
Grin2b	C	T	6: 135,716,113 (GRCm39)	V735M	probably damaging	Het
Itpr3	T	G	17: 27,308,586 (GRCm39)		probably benign	Het
Lingo4	C	T	3: 94,309,703 (GRCm39)	R214C	probably damaging	Het
Lrp1b	C	T	2: 40,817,901 (GRCm39)	R2329H	probably damaging	Het
Lrrc47	T	C	4: 154,100,450 (GRCm39)	L342P	probably damaging	Het
Mmp15	T	C	8: 96,094,845 (GRCm39)	S240P	probably damaging	Het
Ndufaf4	T	A	4: 24,901,747 (GRCm39)	N95K	probably benign	Het
Nms	C	T	1: 38,980,993 (GRCm39)	P60S	probably benign	Het
Npas3	A	T	12: 53,547,975 (GRCm39)	Y77F	probably damaging	Het
Or2ak7	T	G	11: 58,574,702 (GRCm39)	M1R	probably null	Het
Or51f5	G	T	7: 102,424,460 (GRCm39)	C243F	probably damaging	Het
Or5d43	T	A	2: 88,105,189 (GRCm39)	D68V	probably damaging	Het
Or8d2b	A	G	9: 38,789,374 (GRCm39)	M301V	probably benign	Het
Or9m2	T	A	2: 87,820,493 (GRCm39)	Y13N	probably benign	Het
Or9s27	T	A	1: 92,516,273 (GRCm39)	S74T	probably damaging	Het
Picalm	T	C	7: 89,831,454 (GRCm39)	V429A	probably benign	Het
Pkhd1l1	T	A	15: 44,421,400 (GRCm39)	I3056N	probably damaging	Het
Pomt1	G	T	2: 32,134,338 (GRCm39)	M286I	probably benign	Het
Psg21	A	T	7: 18,386,410 (GRCm39)	M192K	probably benign	Het
Psma1	C	A	7: 113,865,674 (GRCm39)	A219S	probably benign	Het
Rad21l	T	G	2: 151,510,389 (GRCm39)	H22P	probably damaging	Het
Rnf213	A	G	11: 119,370,767 (GRCm39)	T4791A	probably damaging	Het
Sdk2	A	G	11: 113,712,452 (GRCm39)	V1609A	probably benign	Het
Sema3e	T	A	5: 14,291,057 (GRCm39)	S606T	probably benign	Het
Slc16a4	A	T	3: 107,218,858 (GRCm39)	R486S	possibly damaging	Het
Slc17a3	T	C	13: 24,040,767 (GRCm39)	L331P	probably damaging	Het
Slc38a11	A	T	2: 65,184,159 (GRCm39)	V164D	probably damaging	Het
Slc38a6	A	G	12: 73,383,827 (GRCm39)	I173V	probably benign	Het
Synpo2	T	C	3: 122,873,604 (GRCm39)	T1121A	probably benign	Het
Tfcp2	T	C	15: 100,426,302 (GRCm39)	D83G	possibly damaging	Het
Thnsl1	A	G	2: 21,216,455 (GRCm39)	T70A	probably damaging	Het
Tnfrsf21	A	G	17: 43,398,786 (GRCm39)	I631V	probably damaging	Het
Tor2a	C	A	2: 32,647,329 (GRCm39)	H6Q	possibly damaging	Het
Ttn	T	C	2: 76,565,267 (GRCm39)	N19993S	probably benign	Het
Vps53	T	C	11: 76,029,150 (GRCm39)	E119G	probably damaging	Het
Zkscan6	T	C	11: 65,705,495 (GRCm39)	W69R	probably damaging	Het
Zng1	T	C	19: 24,900,002 (GRCm39)	K301E	probably benign	Het
Zswim8	T	C	14: 20,764,459 (GRCm39)	S610P	probably damaging	Het

Other mutations in Popdc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01060:Popdc2	APN	16	38,194,327 (GRCm39)	missense	probably damaging	1.00
IGL01392:Popdc2	APN	16	38,194,493 (GRCm39)	missense	probably benign
IGL03088:Popdc2	APN	16	38,194,184 (GRCm39)	missense	probably damaging	1.00
R1698:Popdc2	UTSW	16	38,189,853 (GRCm39)	missense	probably damaging	1.00
R2152:Popdc2	UTSW	16	38,183,482 (GRCm39)	missense	possibly damaging	0.78
R2158:Popdc2	UTSW	16	38,183,188 (GRCm39)	missense	probably damaging	1.00
R4664:Popdc2	UTSW	16	38,194,649 (GRCm39)	missense	probably damaging	0.97
R5437:Popdc2	UTSW	16	38,183,263 (GRCm39)	missense	probably benign	0.35
R5748:Popdc2	UTSW	16	38,194,665 (GRCm39)	missense	probably damaging	1.00
R7036:Popdc2	UTSW	16	38,183,173 (GRCm39)	missense	probably damaging	1.00
R7037:Popdc2	UTSW	16	38,194,629 (GRCm39)	missense	probably damaging	1.00
R8385:Popdc2	UTSW	16	38,183,262 (GRCm39)	missense	probably benign	0.04
R9022:Popdc2	UTSW	16	38,194,508 (GRCm39)	missense	probably benign	0.01
R9338:Popdc2	UTSW	16	38,194,509 (GRCm39)	missense	probably benign	0.08

Posted On

2016-08-02