Mutagenetix > Incidental Mutation

Incidental Mutation 'R7715:Pacs1'

594887

Institutional Source

Beutler Lab

Gene Symbol

Pacs1

Ensembl Gene

ENSMUSG00000024855

Gene Name

phosphofurin acidic cluster sorting protein 1

Synonyms

MMRRC Submission

045773-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7715 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5183714-5323138 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5191709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 709 (M709I)

Ref Sequence

ENSEMBL: ENSMUSP00000025786 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025786]

AlphaFold

Q8K212

Predicted Effect

probably benign
Transcript: ENSMUST00000025786
AA Change: M709I

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000025786
Gene: ENSMUSG00000024855
AA Change: M709I

Domain	Start	End	E-Value	Type
low complexity region	5	24	N/A	INTRINSIC
low complexity region	27	46	N/A	INTRINSIC
low complexity region	51	97	N/A	INTRINSIC
low complexity region	276	290	N/A	INTRINSIC
low complexity region	306	320	N/A	INTRINSIC
low complexity region	359	372	N/A	INTRINSIC
Pfam:Pacs-1	546	958	2e-193	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a putative role in the localization of trans-Golgi network (TGN) membrane proteins. Mouse and rat homologs have been identified and studies of the homologous rat protein indicate a role in directing TGN localization of furin by binding to the protease's phosphorylated cytosolic domain. In addition, the human protein plays a role in HIV-1 Nef-mediated downregulation of cell surface MHC-I molecules to the TGN, thereby enabling HIV-1 to escape immune surveillance. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	G	1: 53,221,659 (GRCm39)	F57L	probably benign	Het
Agl	C	T	3: 116,551,905 (GRCm39)	R563Q		Het
Ahctf1	A	G	1: 179,598,413 (GRCm39)	M919T	probably benign	Het
Ano4	A	T	10: 88,831,173 (GRCm39)	N483K	probably damaging	Het
Armt1	A	G	10: 4,400,751 (GRCm39)	K166R	probably benign	Het
Asgr2	T	C	11: 69,987,721 (GRCm39)	V73A	probably benign	Het
Atp6v0a2	A	C	5: 124,791,262 (GRCm39)	T564P	probably damaging	Het
B3gntl1	T	C	11: 121,530,622 (GRCm39)	T150A	possibly damaging	Het
Bach1	A	G	16: 87,516,859 (GRCm39)	I467V	possibly damaging	Het
Bicd1	A	G	6: 149,414,471 (GRCm39)	K395E	probably benign	Het
Cadps	G	A	14: 12,457,762 (GRCm38)	P1040S	probably benign	Het
Calcoco2	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,862 (GRCm39)		probably null	Het
Canx	A	G	11: 50,201,631 (GRCm39)	S80P	probably benign	Het
Ccdc149	T	A	5: 52,561,533 (GRCm39)		probably null	Het
Cd34	A	T	1: 194,631,624 (GRCm39)	N87Y	probably damaging	Het
Cdh11	T	A	8: 103,391,346 (GRCm39)	I297F	possibly damaging	Het
Cfap251	A	G	5: 123,400,197 (GRCm39)	N439D	probably damaging	Het
Cip2a	A	T	16: 48,834,347 (GRCm39)	Q643L	probably damaging	Het
Col14a1	A	G	15: 55,351,379 (GRCm39)	I1569V	unknown	Het
Cxcr4	C	T	1: 128,517,479 (GRCm39)	V61M	probably damaging	Het
Cyp20a1	G	A	1: 60,411,764 (GRCm39)	V271M	probably benign	Het
Cyp2b23	T	C	7: 26,381,120 (GRCm39)	Y79C	probably benign	Het
Daam1	A	G	12: 72,035,675 (GRCm39)	K957E	probably benign	Het
Dip2c	A	G	13: 9,664,427 (GRCm39)	K947E	probably damaging	Het
Efcab12	T	C	6: 115,800,504 (GRCm39)	K173R	possibly damaging	Het
Emc1	C	T	4: 139,098,934 (GRCm39)	R806C	probably damaging	Het
Epg5	G	A	18: 78,011,801 (GRCm39)	R816Q	probably damaging	Het
Faf1	G	T	4: 109,568,011 (GRCm39)	D24Y	probably damaging	Het
Fchsd1	A	T	18: 38,099,695 (GRCm39)		probably null	Het
Foxp1	T	C	6: 98,922,621 (GRCm39)	T404A	unknown	Het
Fra10ac1	T	C	19: 38,178,286 (GRCm39)	E299G	probably damaging	Het
Gon4l	A	G	3: 88,815,313 (GRCm39)	T1959A	probably benign	Het
Gpam	A	C	19: 55,077,353 (GRCm39)	V146G	probably benign	Het
Hephl1	T	A	9: 14,972,081 (GRCm39)	D953V	probably benign	Het
Kcnc2	G	T	10: 112,107,845 (GRCm39)	E79*	probably null	Het
Kcnj12	T	A	11: 60,957,778 (GRCm39)		probably null	Het
Llgl2	A	T	11: 115,740,554 (GRCm39)	T417S	probably benign	Het
Lrrc17	A	T	5: 21,766,078 (GRCm39)	N187Y	probably damaging	Het
Macc1	C	T	12: 119,409,991 (GRCm39)	A253V	possibly damaging	Het
Mark1	A	G	1: 184,639,431 (GRCm39)	S529P	probably damaging	Het
Mfsd6l	T	C	11: 68,448,376 (GRCm39)	L409P	probably damaging	Het
Nek1	A	G	8: 61,459,794 (GRCm39)	E34G	probably damaging	Het
Nlrp3	T	A	11: 59,433,829 (GRCm39)		probably null	Het
Obsl1	A	T	1: 75,478,680 (GRCm39)	V686D	probably damaging	Het
Or2l5	C	T	16: 19,333,480 (GRCm39)	R302K	probably benign	Het
Or55b10	T	A	7: 102,143,668 (GRCm39)	M105L	possibly damaging	Het
Or7h8	G	A	9: 20,123,731 (GRCm39)	G29R	probably damaging	Het
Or7h8	G	A	9: 20,123,732 (GRCm39)	G29E	probably benign	Het
Or8c15	T	A	9: 38,120,775 (GRCm39)	M140K	probably benign	Het
Or8g18	A	T	9: 39,149,174 (GRCm39)	L182H	probably damaging	Het
Ostm1	G	A	10: 42,559,183 (GRCm39)	G148R	probably benign	Het
Oxsr1	A	G	9: 119,071,822 (GRCm39)	S470P	probably damaging	Het
Pan2	A	G	10: 128,153,592 (GRCm39)	M963V	probably benign	Het
Pds5a	A	G	5: 65,795,904 (GRCm39)	L662P	possibly damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,119 (GRCm39)		probably benign	Het
Sh2b2	T	C	5: 136,247,889 (GRCm39)	N554S	probably benign	Het
Sh3gl2	T	A	4: 85,317,077 (GRCm39)		probably null	Het
Slc24a4	A	G	12: 102,185,219 (GRCm39)	M93V	possibly damaging	Het
Sohlh1	A	G	2: 25,734,640 (GRCm39)	S218P	possibly damaging	Het
Spast	T	A	17: 74,675,921 (GRCm39)	N321K	probably benign	Het
Srcap	T	G	7: 127,148,460 (GRCm39)	I1936S	probably damaging	Het
Themis	G	A	10: 28,739,305 (GRCm39)	V592I	probably benign	Het
Tnfrsf1a	C	T	6: 125,338,377 (GRCm39)	T296I	possibly damaging	Het
Ttk	A	G	9: 83,747,206 (GRCm39)	T682A	probably benign	Het
Virma	C	T	4: 11,549,682 (GRCm39)	R1807W	probably damaging	Het
Virma	A	G	4: 11,513,016 (GRCm39)		probably null	Het
Vmn2r101	T	A	17: 19,832,177 (GRCm39)	D724E	probably damaging	Het
Vmn2r11	A	G	5: 109,195,307 (GRCm39)	V673A	probably damaging	Het
Wbp4	C	T	14: 79,703,734 (GRCm39)	S271N	probably benign	Het

Other mutations in Pacs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Pacs1	APN	19	5,203,726 (GRCm39)	missense	probably damaging	0.98
IGL01335:Pacs1	APN	19	5,192,660 (GRCm39)	missense	probably damaging	1.00
IGL01717:Pacs1	APN	19	5,218,000 (GRCm39)	missense	probably damaging	1.00
IGL02453:Pacs1	APN	19	5,185,033 (GRCm39)	missense	probably damaging	1.00
IGL02887:Pacs1	APN	19	5,185,138 (GRCm39)	splice site	probably benign
Batavian	UTSW	19	5,206,441 (GRCm39)	missense	possibly damaging	0.71
chicory	UTSW	19	5,189,325 (GRCm39)	missense	probably benign	0.33
endive	UTSW	19	5,322,611 (GRCm39)	nonsense	probably null
Escarole	UTSW	19	5,206,384 (GRCm39)	critical splice donor site	probably null
frisee	UTSW	19	5,186,819 (GRCm39)	missense	probably damaging	1.00
R0240:Pacs1	UTSW	19	5,206,402 (GRCm39)	missense	possibly damaging	0.69
R0240:Pacs1	UTSW	19	5,206,402 (GRCm39)	missense	possibly damaging	0.69
R0316:Pacs1	UTSW	19	5,185,149 (GRCm39)	splice site	silent
R0369:Pacs1	UTSW	19	5,191,726 (GRCm39)	missense	probably damaging	1.00
R0443:Pacs1	UTSW	19	5,322,611 (GRCm39)	nonsense	probably null
R0973:Pacs1	UTSW	19	5,193,857 (GRCm39)	missense	probably damaging	1.00
R0973:Pacs1	UTSW	19	5,193,857 (GRCm39)	missense	probably damaging	1.00
R0974:Pacs1	UTSW	19	5,193,857 (GRCm39)	missense	probably damaging	1.00
R1202:Pacs1	UTSW	19	5,185,265 (GRCm39)	missense	probably damaging	1.00
R1672:Pacs1	UTSW	19	5,202,337 (GRCm39)	missense	probably benign	0.00
R1689:Pacs1	UTSW	19	5,322,643 (GRCm39)	unclassified	probably benign
R1842:Pacs1	UTSW	19	5,205,912 (GRCm39)	missense	probably damaging	0.96
R1847:Pacs1	UTSW	19	5,203,742 (GRCm39)	missense	probably damaging	0.99
R3884:Pacs1	UTSW	19	5,205,787 (GRCm39)	missense	probably damaging	0.99
R4577:Pacs1	UTSW	19	5,193,861 (GRCm39)	nonsense	probably null
R4630:Pacs1	UTSW	19	5,206,384 (GRCm39)	critical splice donor site	probably null
R5029:Pacs1	UTSW	19	5,192,299 (GRCm39)	missense	probably benign	0.03
R5198:Pacs1	UTSW	19	5,189,325 (GRCm39)	missense	probably benign	0.33
R5223:Pacs1	UTSW	19	5,195,169 (GRCm39)	missense	probably benign	0.00
R5464:Pacs1	UTSW	19	5,197,235 (GRCm39)	missense	probably benign
R5695:Pacs1	UTSW	19	5,186,819 (GRCm39)	missense	probably damaging	1.00
R6128:Pacs1	UTSW	19	5,202,400 (GRCm39)	splice site	probably null
R6335:Pacs1	UTSW	19	5,210,005 (GRCm39)	missense	probably damaging	1.00
R6802:Pacs1	UTSW	19	5,202,812 (GRCm39)	missense	probably damaging	0.99
R6831:Pacs1	UTSW	19	5,210,823 (GRCm39)	missense	probably damaging	1.00
R7071:Pacs1	UTSW	19	5,206,402 (GRCm39)	missense	possibly damaging	0.69
R7200:Pacs1	UTSW	19	5,206,441 (GRCm39)	missense	possibly damaging	0.71
R7248:Pacs1	UTSW	19	5,189,003 (GRCm39)	missense	probably damaging	1.00
R7576:Pacs1	UTSW	19	5,195,148 (GRCm39)	missense	probably benign	0.09
R7682:Pacs1	UTSW	19	5,202,727 (GRCm39)	missense	probably damaging	0.99
R7738:Pacs1	UTSW	19	5,202,378 (GRCm39)	missense	probably benign	0.11
R8339:Pacs1	UTSW	19	5,192,651 (GRCm39)	missense	probably damaging	1.00
R8930:Pacs1	UTSW	19	5,185,030 (GRCm39)	missense	probably damaging	1.00
R8932:Pacs1	UTSW	19	5,185,030 (GRCm39)	missense	probably damaging	1.00
R9043:Pacs1	UTSW	19	5,188,964 (GRCm39)	missense	probably benign	0.23
R9211:Pacs1	UTSW	19	5,189,057 (GRCm39)	missense	probably damaging	0.99
R9459:Pacs1	UTSW	19	5,195,098 (GRCm39)	critical splice donor site	probably null
R9584:Pacs1	UTSW	19	5,322,622 (GRCm39)	missense	probably benign
R9608:Pacs1	UTSW	19	5,193,862 (GRCm39)	missense	probably damaging	1.00
R9732:Pacs1	UTSW	19	5,184,997 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCTCTCCAACAGGAAATGG -3'
(R):5'- TCAGAGTCCAGCTCAGGAAAG -3'

Sequencing Primer
(F):5'- CCTCTCCAACAGGAAATGGAATGG -3'
(R):5'- TCAGGAAAGAGAGGACTGTGCTTTG -3'

Posted On

2019-11-12