Mutagenetix > Incidental Mutations

Incidental Mutation 'R1842:Pacs1'

205857

Institutional Source

Beutler Lab

Gene Symbol

Pacs1

Ensembl Gene

ENSMUSG00000024855

Gene Name

phosphofurin acidic cluster sorting protein 1

Synonyms

MMRRC Submission

039867-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1842 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5133688-5273119 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5155884 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 288 (E288G)

Ref Sequence

ENSEMBL: ENSMUSP00000025786 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000025786
AA Change: E288G

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000025786
Gene: ENSMUSG00000024855
AA Change: E288G

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: 97.4%
3x: 96.7%
10x: 94.8%
20x: 90.8%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,742,506	Y82C	probably damaging	Het
Abca6	G	T	11: 110,197,039	N1087K	probably benign	Het
Abcc3	G	A	11: 94,359,612	T921I	probably benign	Het
Abr	T	A	11: 76,508,986	I4F	probably damaging	Het
Adcy10	T	A	1: 165,503,243	V25D	probably damaging	Het
Ahnak	T	A	19: 9,005,867	M1505K	probably damaging	Het
Alms1-ps2	T	C	6: 85,796,249		noncoding transcript	Het
Apob	C	G	12: 8,011,559	T3347S	probably damaging	Het
Arhgap27	C	A	11: 103,339,996	G11W	probably damaging	Het
Armc4	A	T	18: 7,223,551	D497E	probably benign	Het
Ccdc110	A	T	8: 45,940,568	I106F	probably damaging	Het
Ccdc28b	T	A	4: 129,621,013	D101V	probably damaging	Het
Ccdc30	T	C	4: 119,331,127	E566G	probably benign	Het
Cenpm	T	C	15: 82,239,364	S111G	probably benign	Het
Cep55	A	G	19: 38,057,900	I34V	probably benign	Het
Dcdc2a	T	C	13: 25,107,602	L190S	probably damaging	Het
Dhh	T	C	15: 98,894,560		probably null	Het
Dst	A	G	1: 34,164,119	N703S	probably null	Het
E030025P04Rik	G	A	11: 109,139,570	L164F	unknown	Het
Efcab5	A	G	11: 77,134,875	V538A	probably benign	Het
Egflam	A	G	15: 7,303,941	S177P	probably benign	Het
Ehbp1l1	A	T	19: 5,725,930	C31S	probably damaging	Het
Eif2d	C	A	1: 131,171,060	Q532K	probably damaging	Het
Elf3	T	C	1: 135,256,793	D175G	possibly damaging	Het
F5	T	C	1: 164,184,560	V449A	probably damaging	Het
Fam110a	A	T	2: 151,970,034	I272N	probably damaging	Het
Fbxo34	A	G	14: 47,531,007	D608G	probably damaging	Het
Flrt2	T	C	12: 95,779,284	L132P	probably damaging	Het
Frg2f1	A	T	4: 119,531,080	V74D	possibly damaging	Het
Gad1	G	T	2: 70,574,253	E162D	probably benign	Het
Glb1l	A	G	1: 75,200,460	V444A	probably damaging	Het
Gm10770	G	A	2: 150,179,156	T147I	probably damaging	Het
Gm43302	T	C	5: 105,277,736	I276V	probably benign	Het
Greb1	T	C	12: 16,696,243	H1314R	probably damaging	Het
Hapln2	A	G	3: 88,024,001	V69A	probably damaging	Het
Hcn1	T	C	13: 117,976,008	I836T	probably damaging	Het
Hspa5	A	G	2: 34,775,803	D553G	probably damaging	Het
Iqgap1	A	T	7: 80,760,883	I194N	probably damaging	Het
Kansl3	A	G	1: 36,351,744	V304A	probably damaging	Het
Kdm5d	C	T	Y: 927,798	S716L	probably damaging	Het
Klra6	T	C	6: 130,022,610	T132A	probably benign	Het
Krt26	CTAGTA	CTA	11: 99,333,526		probably benign	Het
Lrp1	A	G	10: 127,573,468	I1594T	possibly damaging	Het
Lrp2bp	A	G	8: 46,011,115	D15G	probably benign	Het
Map4k1	T	C	7: 28,987,163	L170P	probably damaging	Het
Mast3	A	G	8: 70,780,393	F1108L	possibly damaging	Het
Mettl5	G	T	2: 69,885,342	L6I	unknown	Het
Mfsd14a	A	T	3: 116,632,408	F447I	possibly damaging	Het
Mrc2	A	G	11: 105,337,720	I642V	probably damaging	Het
Necap1	A	G	6: 122,874,588	Y7C	probably damaging	Het
Nsd1	G	A	13: 55,246,445	E723K	probably damaging	Het
Nsun3	A	T	16: 62,776,392	L121H	probably damaging	Het
Nsun6	A	T	2: 15,009,477	M284K	probably damaging	Het
Nutf2	T	C	8: 105,876,610		probably null	Het
Olfr1166	A	T	2: 88,124,127	M286K	probably damaging	Het
Olfr352	A	T	2: 36,869,589	N8Y	probably damaging	Het
Peg10	A	T	6: 4,756,381		probably benign	Het
Rab38	G	A	7: 88,450,522	E82K	possibly damaging	Het
Rgsl1	T	A	1: 153,799,797	E206V	probably damaging	Het
Scube3	G	A	17: 28,165,089	V521I	probably damaging	Het
Sgpp1	C	T	12: 75,716,208	V400M	probably damaging	Het
Slc18b1	T	C	10: 23,805,993	S152P	possibly damaging	Het
Slit1	A	T	19: 41,721,038		probably null	Het
Spta1	A	G	1: 174,195,947	K640R	probably benign	Het
Svil	A	G	18: 5,062,373	T898A	probably damaging	Het
Tex45	T	A	8: 3,483,668	F295L	possibly damaging	Het
Timm44	A	G	8: 4,260,510		probably null	Het
Tomm40	A	G	7: 19,713,725	S127P	probably benign	Het
Vmn2r23	T	A	6: 123,729,690	V493D	possibly damaging	Het
Yeats2	T	C	16: 20,171,238	V288A	probably damaging	Het
Zfhx4	C	T	3: 5,401,498	R2239W	probably damaging	Het
Zscan2	A	C	7: 80,875,553	K341Q	probably damaging	Het

Other mutations in Pacs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Pacs1	APN	19	5153698	missense	probably damaging	0.98
IGL01335:Pacs1	APN	19	5142632	missense	probably damaging	1.00
IGL01717:Pacs1	APN	19	5167972	missense	probably damaging	1.00
IGL02453:Pacs1	APN	19	5135005	missense	probably damaging	1.00
IGL02887:Pacs1	APN	19	5135110	splice site	probably benign
Batavian	UTSW	19	5156413	missense	possibly damaging	0.71
chicory	UTSW	19	5139297	missense	probably benign	0.33
endive	UTSW	19	5272583	nonsense	probably null
Escarole	UTSW	19	5156356	critical splice donor site	probably null
frisee	UTSW	19	5136791	missense	probably damaging	1.00
R0240:Pacs1	UTSW	19	5156374	missense	possibly damaging	0.69
R0240:Pacs1	UTSW	19	5156374	missense	possibly damaging	0.69
R0316:Pacs1	UTSW	19	5135121	splice site	silent
R0369:Pacs1	UTSW	19	5141698	missense	probably damaging	1.00
R0443:Pacs1	UTSW	19	5272583	nonsense	probably null
R0973:Pacs1	UTSW	19	5143829	missense	probably damaging	1.00
R0973:Pacs1	UTSW	19	5143829	missense	probably damaging	1.00
R0974:Pacs1	UTSW	19	5143829	missense	probably damaging	1.00
R1202:Pacs1	UTSW	19	5135237	missense	probably damaging	1.00
R1672:Pacs1	UTSW	19	5152309	missense	probably benign	0.00
R1689:Pacs1	UTSW	19	5272615	unclassified	probably benign
R1847:Pacs1	UTSW	19	5153714	missense	probably damaging	0.99
R3884:Pacs1	UTSW	19	5155759	missense	probably damaging	0.99
R4577:Pacs1	UTSW	19	5143833	nonsense	probably null
R4630:Pacs1	UTSW	19	5156356	critical splice donor site	probably null
R5029:Pacs1	UTSW	19	5142271	missense	probably benign	0.03
R5198:Pacs1	UTSW	19	5139297	missense	probably benign	0.33
R5223:Pacs1	UTSW	19	5145141	missense	probably benign	0.00
R5464:Pacs1	UTSW	19	5147207	missense	probably benign
R5695:Pacs1	UTSW	19	5136791	missense	probably damaging	1.00
R6128:Pacs1	UTSW	19	5152372	splice site	probably null
R6335:Pacs1	UTSW	19	5159977	missense	probably damaging	1.00
R6802:Pacs1	UTSW	19	5152784	missense	probably damaging	0.99
R6831:Pacs1	UTSW	19	5160795	missense	probably damaging	1.00
R7071:Pacs1	UTSW	19	5156374	missense	possibly damaging	0.69
R7200:Pacs1	UTSW	19	5156413	missense	possibly damaging	0.71
R7248:Pacs1	UTSW	19	5138975	missense	probably damaging	1.00
R7576:Pacs1	UTSW	19	5145120	missense	probably benign	0.09
R7682:Pacs1	UTSW	19	5152699	missense	probably damaging	0.99
R7715:Pacs1	UTSW	19	5141681	missense	probably benign	0.01
R7738:Pacs1	UTSW	19	5152350	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- AGGTCAGTTTCCTCCGAGTC -3'
(R):5'- CTGGGAAATGTGTTCATGCG -3'

Sequencing Primer
(F):5'- GAGTCTTCTTTACTTTCCGAAGATC -3'
(R):5'- TCATGCGAGATAAGCTTAGAGATCCC -3'

Posted On

2014-06-23