Mutagenetix > Incidental Mutation

Incidental Mutation 'R5669:Popdc3'

501242

Institutional Source

Beutler Lab

Gene Symbol

Popdc3

Ensembl Gene

ENSMUSG00000019848

Gene Name

popeye domain containing 3

Synonyms

Pop3

MMRRC Submission

043312-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5669 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45165401-45194546 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45192529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 163 (I163N)

Ref Sequence

ENSEMBL: ENSMUSP00000019994 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019994] [ENSMUST00000161803] [ENSMUST00000175658]

AlphaFold

Q9ES81

Predicted Effect

probably damaging
Transcript: ENSMUST00000019994
AA Change: I163N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000019994
Gene: ENSMUSG00000019848
AA Change: I163N

Domain	Start	End	E-Value	Type
Pfam:Popeye	25	249	1.8e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161803

SMART Domains

Protein: ENSMUSP00000125532
Gene: ENSMUSG00000019848

Domain	Start	End	E-Value	Type
transmembrane domain	27	44	N/A	INTRINSIC
transmembrane domain	48	70	N/A	INTRINSIC
transmembrane domain	77	99	N/A	INTRINSIC
Pfam:Popeye	107	169	5.9e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175658

SMART Domains

Protein: ENSMUSP00000135373
Gene: ENSMUSG00000019848

Domain	Start	End	E-Value	Type
transmembrane domain	27	44	N/A	INTRINSIC
transmembrane domain	48	70	N/A	INTRINSIC
transmembrane domain	77	99	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in these tissues during development. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2008]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Akap9	T	A	5: 4,100,540 (GRCm39)	L2734*	probably null	Het
Aldh1a1	T	C	19: 20,588,284 (GRCm39)	I25T	probably damaging	Het
Astl	G	T	2: 127,189,199 (GRCm39)	R175L	probably damaging	Het
BC035947	A	T	1: 78,474,550 (GRCm39)	C661S	probably damaging	Het
Cd160	C	T	3: 96,716,214 (GRCm39)		probably benign	Het
Cdc42bpb	C	T	12: 111,268,447 (GRCm39)		probably null	Het
Cdip1	T	A	16: 4,586,679 (GRCm39)	I149F	probably damaging	Het
Cfap65	T	C	1: 74,964,127 (GRCm39)	Y607C	probably damaging	Het
Col6a5	A	G	9: 105,803,197 (GRCm39)	I1256T	unknown	Het
Copb1	A	G	7: 113,836,820 (GRCm39)	V336A	probably damaging	Het
Ddx42	A	T	11: 106,132,645 (GRCm39)	D556V	probably damaging	Het
Dlk1	T	C	12: 109,425,964 (GRCm39)	V279A	probably benign	Het
Fbll1	T	C	11: 35,688,411 (GRCm39)	N284S	probably benign	Het
Fbxw21	A	T	9: 108,974,578 (GRCm39)	I314N	probably benign	Het
Foxa3	T	C	7: 18,748,176 (GRCm39)	T317A	probably benign	Het
Gpr37	A	T	6: 25,669,351 (GRCm39)	C498S	probably benign	Het
Hapln3	G	T	7: 78,767,244 (GRCm39)		probably null	Het
Igkv4-54	A	G	6: 69,608,832 (GRCm39)	V29A	possibly damaging	Het
Itgb8	T	A	12: 119,154,363 (GRCm39)	I225F	probably damaging	Het
Kcnk3	A	G	5: 30,779,693 (GRCm39)	T248A	probably damaging	Het
Kcnv1	T	C	15: 44,977,648 (GRCm39)	Q130R	possibly damaging	Het
Lrp1b	T	C	2: 41,001,050 (GRCm39)	H2058R	probably damaging	Het
Macf1	T	A	4: 123,370,018 (GRCm39)	E1581V	probably damaging	Het
Mga	A	G	2: 119,733,907 (GRCm39)	N252D	probably damaging	Het
Nadsyn1	C	T	7: 143,361,168 (GRCm39)	G335S	probably damaging	Het
Or10ag53	T	C	2: 87,082,785 (GRCm39)	V168A	probably benign	Het
Or7e165	T	C	9: 19,695,053 (GRCm39)	F208S	probably benign	Het
Pak5	G	A	2: 135,958,204 (GRCm39)	P295S	probably damaging	Het
Pcsk1	T	A	13: 75,278,221 (GRCm39)	S595T	probably benign	Het
Pepd	T	C	7: 34,740,099 (GRCm39)	V324A	probably benign	Het
Pml	C	T	9: 58,154,346 (GRCm39)	D176N	probably benign	Het
Ppp1r13l	A	C	7: 19,106,947 (GRCm39)	T481P	probably benign	Het
Pramel13	T	C	4: 144,122,413 (GRCm39)	I44V	probably benign	Het
Prlh	A	G	1: 90,880,842 (GRCm39)	T5A	probably benign	Het
Prom1	A	G	5: 44,170,285 (GRCm39)	F638S	possibly damaging	Het
Prpf8	T	A	11: 75,395,564 (GRCm39)	L1897H	probably damaging	Het
Ret	T	C	6: 118,161,204 (GRCm39)	T91A	probably benign	Het
Retsat	A	G	6: 72,582,993 (GRCm39)	S176G	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rnf213	T	C	11: 119,349,611 (GRCm39)	L3823P	possibly damaging	Het
Rnf31	C	T	14: 55,834,161 (GRCm39)	A653V	probably damaging	Het
Rps6kl1	T	C	12: 85,194,641 (GRCm39)	D90G	probably damaging	Het
Scarb1	A	G	5: 125,377,451 (GRCm39)	Y194H	probably damaging	Het
Scube2	C	T	7: 109,424,646 (GRCm39)	A556T	probably benign	Het
Serpinb1a	A	G	13: 33,029,299 (GRCm39)	L243P	probably damaging	Het
Slc39a4	A	C	15: 76,498,363 (GRCm39)	L358R	probably damaging	Het
Slitrk5	A	G	14: 111,919,055 (GRCm39)	D893G	probably damaging	Het
Srgap1	C	A	10: 121,640,755 (GRCm39)	V681L	probably benign	Het
Tmprss6	A	T	15: 78,339,156 (GRCm39)	M262K	possibly damaging	Het
Ttf2	T	A	3: 100,858,433 (GRCm39)	K719*	probably null	Het
Vmn1r62	T	A	7: 5,678,736 (GRCm39)	L139*	probably null	Het
Zfp1004	A	G	2: 150,034,098 (GRCm39)	I140V	probably benign	Het

Other mutations in Popdc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00391:Popdc3	APN	10	45,193,922 (GRCm39)	splice site	probably null
IGL01304:Popdc3	APN	10	45,194,005 (GRCm39)	missense	probably benign
IGL01643:Popdc3	APN	10	45,190,976 (GRCm39)	missense	probably damaging	1.00
IGL02755:Popdc3	APN	10	45,191,314 (GRCm39)	missense	probably damaging	1.00
R0410:Popdc3	UTSW	10	45,193,829 (GRCm39)	missense	possibly damaging	0.95
R0586:Popdc3	UTSW	10	45,191,359 (GRCm39)	missense	probably benign	0.04
R0738:Popdc3	UTSW	10	45,191,354 (GRCm39)	missense	probably damaging	1.00
R1102:Popdc3	UTSW	10	45,192,642 (GRCm39)	unclassified	probably benign
R1649:Popdc3	UTSW	10	45,191,320 (GRCm39)	missense	probably damaging	1.00
R2026:Popdc3	UTSW	10	45,190,951 (GRCm39)	missense	probably damaging	1.00
R4720:Popdc3	UTSW	10	45,191,002 (GRCm39)	missense	probably benign	0.04
R5905:Popdc3	UTSW	10	45,194,015 (GRCm39)	missense	probably benign
R6028:Popdc3	UTSW	10	45,194,015 (GRCm39)	missense	probably benign
R7468:Popdc3	UTSW	10	45,191,117 (GRCm39)	missense	probably damaging	1.00
R7693:Popdc3	UTSW	10	45,191,227 (GRCm39)	missense	probably benign	0.01
R7864:Popdc3	UTSW	10	45,191,278 (GRCm39)	missense	probably benign	0.13
X0057:Popdc3	UTSW	10	45,191,207 (GRCm39)	missense	probably benign	0.10
Z1177:Popdc3	UTSW	10	45,190,980 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACAACTTGATGAGCTGTTGGTG -3'
(R):5'- GTATGCTTGCTCGCTTTACAAC -3'

Sequencing Primer
(F):5'- CTACTGTTCCAGACTTCTAGGTGATG -3'
(R):5'- GCTTGCTCGCTTTACAACAAATATTC -3'

Posted On

2017-12-01