Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03088:Popdc2'

418223

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 #

IGL03088

Quality Score

Status

Chromosome

Chromosomal Location

38182571-38198578 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38194184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 202 (T202S)

Ref Sequence

ENSEMBL: ENSMUSP00000110387 (fasta)

Gene Model

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

AlphaFold

Q9ES82

Predicted Effect

probably damaging
Transcript: ENSMUST00000023494
AA Change: T202S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023494
Gene: ENSMUSG00000022803
AA Change: T202S

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 damaging
Transcript: ENSMUST00000114739
AA Change: T202S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110387
Gene: ENSMUSG00000022803
AA Change: T202S

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	T	G	11: 58,184,210 (GRCm39)	L299R	unknown	Het
Abca9	T	G	11: 110,035,087 (GRCm39)	R693S	probably benign	Het
Adamts20	A	T	15: 94,227,795 (GRCm39)		probably null	Het
Afg1l	T	A	10: 42,302,493 (GRCm39)	D169V	probably damaging	Het
Agbl1	T	A	7: 76,369,890 (GRCm39)	M663K	probably benign	Het
Angpt2	T	A	8: 18,791,039 (GRCm39)	I86F	probably benign	Het
Ankrd2	G	A	19: 42,030,424 (GRCm39)	E160K	probably null	Het
As3mt	G	T	19: 46,696,233 (GRCm39)	V14F	probably damaging	Het
Atp6v0a2	T	C	5: 124,791,171 (GRCm39)		probably benign	Het
Atp6v0d1	T	A	8: 106,257,591 (GRCm39)	I113F	probably damaging	Het
Bank1	A	G	3: 135,799,123 (GRCm39)	I406T	probably damaging	Het
Bicdl1	A	G	5: 115,801,881 (GRCm39)	V59A	possibly damaging	Het
Brsk1	A	G	7: 4,713,453 (GRCm39)		probably benign	Het
Cdh17	T	A	4: 11,810,473 (GRCm39)	N721K	probably damaging	Het
Cercam	A	G	2: 29,771,699 (GRCm39)		probably benign	Het
Clpb	T	A	7: 101,434,656 (GRCm39)	L484*	probably null	Het
Creb3l1	T	A	2: 91,825,739 (GRCm39)	M127L	probably benign	Het
Cstdc1	A	T	2: 148,625,327 (GRCm39)	H87L	possibly damaging	Het
Ctla2b	A	C	13: 61,043,874 (GRCm39)	D122E	probably damaging	Het
Cyb5rl	C	A	4: 106,938,225 (GRCm39)	Y12*	probably null	Het
Dennd5a	T	C	7: 109,507,588 (GRCm39)	Y800C	probably damaging	Het
Dmrt3	T	G	19: 25,600,411 (GRCm39)	S419A	probably benign	Het
Elapor1	A	G	3: 108,443,674 (GRCm39)	W31R	probably damaging	Het
Fbxo38	A	G	18: 62,655,543 (GRCm39)	V381A	possibly damaging	Het
Flg2	A	T	3: 93,110,498 (GRCm39)	H842L	unknown	Het
Fn1	A	T	1: 71,653,197 (GRCm39)		probably null	Het
Fos	A	C	12: 85,522,630 (GRCm39)	T181P	possibly damaging	Het
Fzd10	A	G	5: 128,679,669 (GRCm39)	Y463C	possibly damaging	Het
Gprc5b	T	C	7: 118,582,856 (GRCm39)	M338V	probably benign	Het
Gsta4	T	C	9: 78,113,345 (GRCm39)		probably benign	Het
Gstm2	T	A	3: 107,893,362 (GRCm39)	T34S	probably benign	Het
Haspin	C	T	11: 73,027,451 (GRCm39)	R546Q	probably damaging	Het
Itgad	G	A	7: 127,802,204 (GRCm39)	R958H	probably benign	Het
Kansl1l	A	T	1: 66,774,884 (GRCm39)	H647Q	probably damaging	Het
Kif5c	A	C	2: 49,634,455 (GRCm39)	R762S	probably benign	Het
Klf4	C	A	4: 55,530,758 (GRCm39)	A68S	possibly damaging	Het
Klf4	A	G	4: 55,530,811 (GRCm39)	L50P	probably damaging	Het
Kmt2c	T	C	5: 25,504,802 (GRCm39)	E3502G	probably damaging	Het
Krt8	A	G	15: 101,909,022 (GRCm39)	I202T	possibly damaging	Het
Lmcd1	A	T	6: 112,287,649 (GRCm39)	T112S	probably damaging	Het
Lpxn	T	C	19: 12,810,575 (GRCm39)	C340R	probably damaging	Het
Man2a2	C	T	7: 80,009,082 (GRCm39)	V844M	possibly damaging	Het
Map10	G	A	8: 126,397,809 (GRCm39)	E401K	probably benign	Het
Mark4	A	T	7: 19,185,509 (GRCm39)	L75Q	probably damaging	Het
Mlf2	T	G	6: 124,910,945 (GRCm39)	M81R	probably damaging	Het
Mup3	A	G	4: 62,005,079 (GRCm39)	I67T	probably damaging	Het
Mycbpap	T	C	11: 94,404,769 (GRCm39)		probably null	Het
Myt1l	T	C	12: 29,970,476 (GRCm39)	V1185A	probably benign	Het
Ncoa7	C	T	10: 30,574,121 (GRCm39)		probably null	Het
Nos1	C	A	5: 118,005,323 (GRCm39)	N14K	probably damaging	Het
Nova2	G	T	7: 18,684,494 (GRCm39)	V116F	unknown	Het
Obox3	G	A	7: 15,360,927 (GRCm39)		probably benign	Het
Or10h1	A	T	17: 33,418,534 (GRCm39)	T171S	probably benign	Het
Or2t46	T	A	11: 58,472,653 (GRCm39)		probably benign	Het
Or5v1	A	G	17: 37,809,539 (GRCm39)		probably benign	Het
Or8b50	A	T	9: 38,518,597 (GRCm39)	S279C	probably damaging	Het
P2rx5	T	A	11: 73,056,446 (GRCm39)		probably benign	Het
Parvb	T	A	15: 84,193,044 (GRCm39)		probably benign	Het
Ppm1j	T	A	3: 104,692,725 (GRCm39)	Y411*	probably null	Het
Rapgefl1	C	A	11: 98,740,058 (GRCm39)	L484M	probably damaging	Het
Septin14	A	G	5: 129,774,797 (GRCm39)		probably benign	Het
Slf1	A	G	13: 77,232,554 (GRCm39)	C517R	probably damaging	Het
Smyd3	A	G	1: 178,921,898 (GRCm39)		probably null	Het
Snx9	A	G	17: 5,974,885 (GRCm39)	T458A	probably benign	Het
Srgap1	T	C	10: 121,661,598 (GRCm39)	D514G	possibly damaging	Het
Tbc1d14	A	G	5: 36,682,308 (GRCm39)	S311P	probably damaging	Het
Timd6	C	A	11: 46,475,244 (GRCm39)	F146L	probably benign	Het
Tmem150c	T	G	5: 100,234,076 (GRCm39)	K91N	probably damaging	Het
Traf3	T	A	12: 111,228,277 (GRCm39)	M471K	probably damaging	Het
Tubd1	G	T	11: 86,443,825 (GRCm39)	G178C	probably damaging	Het
Vav2	T	C	2: 27,157,262 (GRCm39)	K847E	possibly damaging	Het
Vmn2r100	A	T	17: 19,742,301 (GRCm39)	H225L	probably benign	Het
Wrn	A	T	8: 33,758,851 (GRCm39)		probably benign	Het
Xpo7	T	G	14: 70,918,702 (GRCm39)	S710R	probably benign	Het
Zfp780b	C	T	7: 27,662,417 (GRCm39)	V713I	possibly damaging	Het
Zkscan17	A	T	11: 59,378,592 (GRCm39)	I197N	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
IGL03001:Popdc2	APN	16	38,189,881 (GRCm39)	missense	probably benign	0.09
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