Mutagenetix > Incidental Mutations

Incidental Mutation 'R1649:Popdc3'

174109

Institutional Source

Beutler Lab

Gene Symbol

Popdc3

Ensembl Gene

ENSMUSG00000019848

Gene Name

popeye domain containing 3

Synonyms

Pop3

MMRRC Submission

039685-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1649 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45178098-45318452 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45315224 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 144 (Y144H)

Ref Sequence

ENSEMBL: ENSMUSP00000125532 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000019994
AA Change: Y144H

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

SMART Domains

Protein: ENSMUSP00000019994
Gene: ENSMUSG00000019848
AA Change: Y144H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000161803
AA Change: Y144H

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

SMART Domains

Protein: ENSMUSP00000125532
Gene: ENSMUSG00000019848
AA Change: Y144H

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: 98.9%
3x: 98.0%
10x: 95.0%
20x: 88.1%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430078G23Rik	A	G	8: 3,389,094		probably benign	Het
Akr1a1	T	A	4: 116,638,020	I261F	probably damaging	Het
Aldh1l1	T	C	6: 90,564,389	V255A	probably benign	Het
Ambn	T	A	5: 88,464,481	M172K	probably benign	Het
BC034090	T	C	1: 155,225,573	H315R	possibly damaging	Het
Btaf1	T	A	19: 36,981,722	D707E	probably benign	Het
C6	T	C	15: 4,735,257	L145P	possibly damaging	Het
Cav3	T	A	6: 112,472,246	L75Q	probably damaging	Het
Cavin2	T	A	1: 51,300,780	D205E	probably benign	Het
Cdadc1	T	C	14: 59,573,793	T423A	probably damaging	Het
Cep120	A	T	18: 53,724,576	H272Q	probably damaging	Het
Chd9	A	T	8: 90,932,601	Q63L	possibly damaging	Het
Clspn	T	C	4: 126,566,435		probably benign	Het
Cramp1l	G	T	17: 24,983,243	H422N	probably damaging	Het
Csn1s2b	A	T	5: 87,819,084	M71L	probably benign	Het
D630045J12Rik	C	A	6: 38,181,431	A1104S	probably damaging	Het
D930048N14Rik	A	G	11: 51,654,836		probably benign	Het
Ern2	G	A	7: 122,177,400	P366S	probably damaging	Het
Gm1527	T	C	3: 28,898,731	I60T	probably damaging	Het
Gse1	T	C	8: 120,578,515		probably benign	Het
Ildr1	T	C	16: 36,708,319	L42P	probably damaging	Het
Itih2	G	A	2: 10,105,735	T515I	probably benign	Het
Jcad	C	A	18: 4,673,309	P357Q	probably damaging	Het
Kitl	A	G	10: 100,064,114	T94A	probably benign	Het
Klri1	C	T	6: 129,698,241	M185I	probably benign	Het
Lsamp	A	T	16: 41,955,298	M171L	probably benign	Het
Macf1	T	G	4: 123,484,053	I1460L	probably damaging	Het
Map1b	C	G	13: 99,516,478	V4L	probably benign	Het
Mboat7	A	T	7: 3,685,818	V237D	probably benign	Het
Mctp2	A	T	7: 72,161,258	I656K	probably damaging	Het
Ms4a6b	A	G	19: 11,520,442	D35G	possibly damaging	Het
Nipsnap2	T	A	5: 129,753,237	I205N	probably damaging	Het
Nsd2	T	C	5: 33,854,640	V264A	probably damaging	Het
Oacyl	C	T	18: 65,750,096	T582I	probably damaging	Het
Olfm1	A	T	2: 28,229,267	T333S	possibly damaging	Het
Olfm4	G	A	14: 80,011,982	E180K	probably damaging	Het
Olfr127	T	C	17: 37,904,169	F208L	probably benign	Het
Olfr1368	A	T	13: 21,142,742	L105Q	probably damaging	Het
Olfr146	T	G	9: 39,019,480	Q20H	probably benign	Het
Parp4	T	A	14: 56,590,428	V212E	possibly damaging	Het
Pcdhb21	T	A	18: 37,515,613	N598K	probably damaging	Het
Piezo2	C	A	18: 63,117,672	W452L	probably benign	Het
Plec	C	A	15: 76,205,811	A110S	possibly damaging	Het
Ptgdr	T	C	14: 44,858,502	H251R	probably benign	Het
Ptpro	T	A	6: 137,444,017	Y246*	probably null	Het
Pyroxd2	T	C	19: 42,738,134	D247G	probably damaging	Het
Robo2	T	C	16: 73,899,001	E1418G	probably benign	Het
Rtp3	T	C	9: 110,986,704	T198A	probably benign	Het
Sec16a	A	T	2: 26,425,524	V1767D	probably damaging	Het
Sept14	T	C	5: 129,697,755	N119D	probably benign	Het
Serpina5	A	T	12: 104,105,225	T364S	possibly damaging	Het
Setd2	A	G	9: 110,549,864	S632G	probably benign	Het
Sh3bp2	C	T	5: 34,559,004	A253V	possibly damaging	Het
Slc6a5	G	T	7: 49,936,262	G443C	probably damaging	Het
Spag9	T	A	11: 94,108,452		probably null	Het
Sptbn1	T	C	11: 30,137,301	E1033G	probably damaging	Het
Timm17a	T	G	1: 135,309,802	Q39P	probably damaging	Het
Tmem26	A	T	10: 68,751,273	T184S	probably damaging	Het
Tpi1	A	T	6: 124,812,928		probably null	Het
Tssk5	T	C	15: 76,373,803	Y118C	possibly damaging	Het
Ttll4	T	A	1: 74,697,470	L1118Q	possibly damaging	Het
Ttll5	T	A	12: 85,923,014	L691Q	probably damaging	Het
Vmn1r49	A	T	6: 90,072,641	H126Q	possibly damaging	Het
Zfp518b	A	T	5: 38,671,881	V927E	probably damaging	Het
Zfp618	T	C	4: 63,095,537	F213S	probably damaging	Het
Zfp759	T	A	13: 67,139,604	N406K	probably benign	Het

Other mutations in Popdc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00391:Popdc3	APN	10	45317826	splice site	probably null
IGL01304:Popdc3	APN	10	45317909	missense	probably benign
IGL01643:Popdc3	APN	10	45314880	missense	probably damaging	1.00
IGL02755:Popdc3	APN	10	45315218	missense	probably damaging	1.00
R0410:Popdc3	UTSW	10	45317733	missense	possibly damaging	0.95
R0586:Popdc3	UTSW	10	45315263	missense	probably benign	0.04
R0738:Popdc3	UTSW	10	45315258	missense	probably damaging	1.00
R1102:Popdc3	UTSW	10	45316546	unclassified	probably benign
R2026:Popdc3	UTSW	10	45314855	missense	probably damaging	1.00
R4720:Popdc3	UTSW	10	45314906	missense	probably benign	0.04
R5669:Popdc3	UTSW	10	45316433	missense	probably damaging	1.00
R5905:Popdc3	UTSW	10	45317919	missense	probably benign
R6028:Popdc3	UTSW	10	45317919	missense	probably benign
R7468:Popdc3	UTSW	10	45315021	missense	probably damaging	1.00
R7693:Popdc3	UTSW	10	45315131	missense	probably benign	0.01
R7864:Popdc3	UTSW	10	45315182	missense	probably benign	0.13
X0057:Popdc3	UTSW	10	45315111	missense	probably benign	0.10
Z1177:Popdc3	UTSW	10	45314884	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CGTTCACATCGCGTATCAAGTTCAC -3'
(R):5'- AGATCTACCAGGTCAAGCTGCCTC -3'

Sequencing Primer
(F):5'- GTATCAAGTTCACAGCATAACCTTCG -3'
(R):5'- ATGTCTCAAAGATTTCCCCGAG -3'

Posted On

2014-04-24