Mutagenetix > Incidental Mutation

Incidental Mutation 'R0738:Popdc3'

70583

Institutional Source

Beutler Lab

Gene Symbol

Popdc3

Ensembl Gene

ENSMUSG00000019848

Gene Name

popeye domain containing 3

Synonyms

Pop3

MMRRC Submission

038919-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0738 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45165401-45194546 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45191354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 155 (L155P)

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: L155P

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

SMART Domains

Protein: ENSMUSP00000019994
Gene: ENSMUSG00000019848
AA Change: L155P

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

Predicted Effect

unknown
Transcript: ENSMUST00000161803
AA Change: L155P

SMART Domains

Protein: ENSMUSP00000125532
Gene: ENSMUSG00000019848
AA Change: L155P

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

Meta Mutation Damage Score

0.9633

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.6%
20x: 92.3%

Validation Efficiency

98% (46/47)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	T	5: 99,388,812 (GRCm39)	M189K	probably benign	Het
Ank1	A	T	8: 23,604,130 (GRCm39)	E964D	probably damaging	Het
Ankhd1	A	G	18: 36,778,302 (GRCm39)		probably benign	Het
Cd9	G	T	6: 125,439,103 (GRCm39)	Q169K	probably benign	Het
Cdc42bpa	T	A	1: 179,827,027 (GRCm39)		probably benign	Het
Ch25h	T	C	19: 34,451,787 (GRCm39)	N247S	possibly damaging	Het
Dctn1	T	C	6: 83,167,089 (GRCm39)		probably null	Het
Defa22	C	T	8: 21,652,391 (GRCm39)	T19I	probably benign	Het
Dscam	T	C	16: 96,620,981 (GRCm39)	N576D	possibly damaging	Het
Epha3	T	C	16: 63,415,975 (GRCm39)	M675V	probably damaging	Het
Fam241a	C	A	3: 127,664,442 (GRCm39)	A120S	possibly damaging	Het
Fkbp8	T	A	8: 70,982,320 (GRCm39)	I86N	probably damaging	Het
Herc4	C	T	10: 63,124,928 (GRCm39)	P514L	possibly damaging	Het
Ide	A	T	19: 37,255,364 (GRCm39)	L813*	probably null	Het
Igkv12-41	G	A	6: 69,835,675 (GRCm39)	Q26*	probably null	Het
Itsn2	T	C	12: 4,685,681 (GRCm39)	V483A	probably benign	Het
Kcp	A	T	6: 29,490,438 (GRCm39)	I1002N	probably benign	Het
Lrfn5	G	T	12: 61,887,378 (GRCm39)	E389*	probably null	Het
Lrp6	G	T	6: 134,519,008 (GRCm39)	A19E	probably benign	Het
Mad1l1	A	G	5: 140,286,315 (GRCm39)	L228P	probably damaging	Het
Map2	T	C	1: 66,464,348 (GRCm39)		probably benign	Het
Med13l	T	A	5: 118,889,698 (GRCm39)	Y1820N	probably damaging	Het
Mgam	A	G	6: 40,731,869 (GRCm39)	N735S	probably benign	Het
Mid2	A	G	X: 139,664,425 (GRCm39)	Y618C	probably damaging	Het
Mllt11	G	A	3: 95,127,597 (GRCm39)	Q58*	probably null	Het
Mttp	A	G	3: 137,809,074 (GRCm39)	V678A	probably damaging	Het
Nfatc1	A	G	18: 80,741,125 (GRCm39)	S278P	probably damaging	Het
Ninj2	A	G	6: 120,175,098 (GRCm39)		probably benign	Het
Nsd3	T	A	8: 26,168,725 (GRCm39)		probably null	Het
Or5b102	A	T	19: 13,041,102 (GRCm39)	E109V	probably damaging	Het
Or8c17	T	C	9: 38,180,421 (GRCm39)	V204A	possibly damaging	Het
Pcdhb4	A	G	18: 37,441,764 (GRCm39)	N358S	probably damaging	Het
Plch1	T	C	3: 63,609,974 (GRCm39)		probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rbm26	A	T	14: 105,414,218 (GRCm39)	I24N	unknown	Het
Rc3h2	T	A	2: 37,295,386 (GRCm39)	D210V	probably damaging	Het
Samd1	CGAGGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGA	8: 84,725,625 (GRCm39)		probably benign	Het
Spopl	T	C	2: 23,427,533 (GRCm39)	T200A	probably benign	Het
Tarbp1	A	G	8: 127,165,540 (GRCm39)		probably null	Het
Thnsl1	T	A	2: 21,218,173 (GRCm39)	H121Q	probably damaging	Het
Tll1	T	C	8: 64,554,984 (GRCm39)	D233G	probably damaging	Het
Vmn2r27	A	T	6: 124,200,661 (GRCm39)	V432E	possibly damaging	Het
Wdr5	T	C	2: 27,409,424 (GRCm39)	S49P	probably damaging	Het
Zfyve26	A	T	12: 79,342,308 (GRCm39)	I46N	probably damaging	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
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
R5669:Popdc3	UTSW	10	45,192,529 (GRCm39)	missense	probably damaging	1.00
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'- TTCACAGCATAACCTTCGCCCG -3'
(R):5'- AGATCTACCAGGTCAAGCTGCCTC -3'

Sequencing Primer
(F):5'- TGTACAGCTCGCTCTTCAAG -3'
(R):5'- CAGAACCAAATTCATGCTTTGC -3'

Posted On

2013-09-30