Mutagenetix > Incidental Mutation

Incidental Mutation 'R8930:Pacs1'

680284

Institutional Source

Beutler Lab

Gene Symbol

Pacs1

Ensembl Gene

ENSMUSG00000024855

Gene Name

phosphofurin acidic cluster sorting protein 1

Synonyms

MMRRC Submission

068774-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8930 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5183714-5323138 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5185030 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 932 (S932C)

Ref Sequence

ENSEMBL: ENSMUSP00000025786 (fasta)

Gene Model

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

AlphaFold

Q8K212

Predicted Effect

probably damaging
Transcript: ENSMUST00000025786
AA Change: S932C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025786
Gene: ENSMUSG00000024855
AA Change: S932C

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: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (64/64)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,629,693 (GRCm39)		probably null	Het
Abl2	A	G	1: 156,461,402 (GRCm39)	T435A	probably damaging	Het
Adamtsl3	C	T	7: 82,261,069 (GRCm39)	P29S		Het
Ankrd11	C	T	8: 123,622,718 (GRCm39)	R378K	probably damaging	Het
Arap1	G	A	7: 101,057,324 (GRCm39)	R1355Q	possibly damaging	Het
Ass1	T	A	2: 31,382,387 (GRCm39)	M186K	probably damaging	Het
Bckdk	A	G	7: 127,507,182 (GRCm39)	D312G	probably benign	Het
Btg3	T	A	16: 78,170,298 (GRCm39)	N3I	probably benign	Het
Cd163	T	C	6: 124,294,882 (GRCm39)	F649L	probably damaging	Het
Cdh1	ACTCGAAATGATGTGGCTC	ACTC	8: 107,392,870 (GRCm39)		probably benign	Het
Cnksr3	A	T	10: 7,110,780 (GRCm39)	V27E	probably damaging	Het
Col12a1	A	T	9: 79,580,665 (GRCm39)	S1512T	probably benign	Het
Cstf1	A	G	2: 172,217,623 (GRCm39)	T79A	probably benign	Het
Defa24	T	C	8: 22,225,373 (GRCm39)	Y88H	probably benign	Het
Dgkz	C	T	2: 91,769,915 (GRCm39)	R389Q	probably damaging	Het
Dsg3	T	A	18: 20,672,718 (GRCm39)	D796E	probably damaging	Het
Dyrk3	G	T	1: 131,057,293 (GRCm39)	D293E	probably damaging	Het
Epb42	T	C	2: 120,854,767 (GRCm39)	D606G	probably benign	Het
Erich5	G	A	15: 34,453,844 (GRCm39)	G18S	probably benign	Het
Fam8a1	C	T	13: 46,827,868 (GRCm39)	T352M	probably benign	Het
Fastkd3	T	A	13: 68,731,835 (GRCm39)	L52Q	probably benign	Het
Fat3	G	A	9: 15,910,819 (GRCm39)	H1728Y	probably benign	Het
Fgl1	A	G	8: 41,662,868 (GRCm39)	V39A	probably benign	Het
Gm7298	T	C	6: 121,742,030 (GRCm39)	V484A	probably benign	Het
Gpr75	A	G	11: 30,842,571 (GRCm39)	Q492R	possibly damaging	Het
Hoxc8	A	G	15: 102,899,318 (GRCm39)	H36R	possibly damaging	Het
Insyn2a	A	G	7: 134,500,881 (GRCm39)	I408T	probably damaging	Het
Insyn2b	T	C	11: 34,352,707 (GRCm39)	S250P	probably benign	Het
Isy1	T	C	6: 87,798,513 (GRCm39)	I214V	probably damaging	Het
Kdm5b	C	T	1: 134,544,010 (GRCm39)	P853L	probably damaging	Het
Man2b1	A	G	8: 85,822,022 (GRCm39)	T746A	probably damaging	Het
Mast3	A	T	8: 71,234,377 (GRCm39)		probably benign	Het
Mki67	A	G	7: 135,300,628 (GRCm39)	S1469P	possibly damaging	Het
Mrps30	C	T	13: 118,523,695 (GRCm39)	A26T	probably benign	Het
Mup10	T	A	4: 60,536,708 (GRCm39)	T92S	possibly damaging	Het
Otud7a	A	G	7: 63,407,239 (GRCm39)	D514G	possibly damaging	Het
Pbx2	C	T	17: 34,813,563 (GRCm39)	R188C	probably damaging	Het
Pclo	C	T	5: 14,762,989 (GRCm39)	P536S	possibly damaging	Het
Pdxdc1	A	T	16: 13,672,269 (GRCm39)	I377N	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Phip	T	C	9: 82,789,041 (GRCm39)	K758E	possibly damaging	Het
Pramel34	T	G	5: 93,785,944 (GRCm39)	D112A	probably benign	Het
Ptprm	C	T	17: 67,263,846 (GRCm39)	R467H	probably benign	Het
Scnn1b	C	T	7: 121,502,067 (GRCm39)	R242C	probably damaging	Het
Seh1l	T	C	18: 67,908,134 (GRCm39)	S19P	possibly damaging	Het
Slc28a1	T	A	7: 80,817,715 (GRCm39)	V528D	probably benign	Het
Slc6a17	G	T	3: 107,379,507 (GRCm39)	Q554K	probably benign	Het
Spag16	G	A	1: 70,338,928 (GRCm39)		probably null	Het
Spata31d1e	C	T	13: 59,890,015 (GRCm39)	E184K	possibly damaging	Het
Srfbp1	T	A	18: 52,623,117 (GRCm39)	N377K	possibly damaging	Het
Stap2	A	G	17: 56,304,895 (GRCm39)	S296P	probably benign	Het
Tnr	A	T	1: 159,740,359 (GRCm39)	I1178F	probably damaging	Het
Tomt	C	T	7: 101,550,350 (GRCm39)	A139T	probably damaging	Het
Trak2	T	C	1: 58,974,967 (GRCm39)	Q75R	probably benign	Het
Tulp1	T	C	17: 28,583,468 (GRCm39)	K58E	probably benign	Het
Utp6	A	G	11: 79,834,055 (GRCm39)		probably null	Het
Vmn1r21	T	C	6: 57,820,998 (GRCm39)	T149A	probably benign	Het
Vmn1r238	C	T	18: 3,123,127 (GRCm39)	V96M	probably benign	Het
Vmn1r9	T	A	6: 57,048,666 (GRCm39)	I247N	probably damaging	Het
Vps33b	T	C	7: 79,932,241 (GRCm39)	C138R	possibly damaging	Het
Wnk1	A	T	6: 119,940,226 (GRCm39)	V837E	probably damaging	Het
Xirp2	C	T	2: 67,312,707 (GRCm39)	H59Y	possibly damaging	Het
Zbtb38	G	T	9: 96,568,434 (GRCm39)	D883E	probably benign	Het
Zbtb7a	C	A	10: 80,980,368 (GRCm39)	D187E	probably benign	Het
Zfp511	T	C	7: 139,617,442 (GRCm39)	V148A	probably damaging	Het
Zfp52	A	G	17: 21,780,692 (GRCm39)	D180G	possibly damaging	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
R7715:Pacs1	UTSW	19	5,191,709 (GRCm39)	missense	probably benign	0.01
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
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'- TGTGTAGAGACAAGCCCCAGTG -3'
(R):5'- TAAGAGCCAGGTCATCGAGG -3'

Sequencing Primer
(F):5'- CCAGTGCTGGGAAAGGG -3'
(R):5'- CAGGTCATCGAGGGCATCAG -3'

Posted On

2021-08-31