Mutagenetix > Incidental Mutation

Incidental Mutation 'R9461:Pacs2'

714882

Institutional Source

Beutler Lab

Gene Symbol

Pacs2

Ensembl Gene

ENSMUSG00000021143

Gene Name

phosphofurin acidic cluster sorting protein 2

Synonyms

6720425G15Rik, Pacs1l

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9461 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112978128-113038021 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113010727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 126 (I126V)

Ref Sequence

ENSEMBL: ENSMUSP00000152439 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084891] [ENSMUST00000220541] [ENSMUST00000222406] [ENSMUST00000223502]

AlphaFold

Q3V3Q7

Predicted Effect

probably damaging
Transcript: ENSMUST00000084891
AA Change: I126V

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000081953
Gene: ENSMUSG00000021143
AA Change: I126V

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
low complexity region	199	213	N/A	INTRINSIC
low complexity region	281	296	N/A	INTRINSIC
low complexity region	299	313	N/A	INTRINSIC
Pfam:Pacs-1	474	888	1.4e-208	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000220541
AA Change: I96V

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000222406

Predicted Effect

probably benign
Transcript: ENSMUST00000223502
AA Change: I126V

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap allele exhibit decreased sensitivity to TRAIL-induced spleen apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Abhd18	A	T	3: 40,859,319 (GRCm39)		probably null	Het
Aox1	G	A	1: 58,116,736 (GRCm39)		probably null	Het
Arpp21	C	A	9: 111,965,704 (GRCm39)	R422L	probably damaging	Het
Ccdc190	G	A	1: 169,761,489 (GRCm39)	G197D	probably benign	Het
Cdc42bpa	G	T	1: 179,969,861 (GRCm39)	L1243F	probably damaging	Het
Ces2b	T	A	8: 105,564,011 (GRCm39)	F462I	probably benign	Het
Cfap45	A	G	1: 172,362,894 (GRCm39)	E295G	possibly damaging	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Col24a1	G	T	3: 145,186,879 (GRCm39)	E1227*	probably null	Het
Col5a1	A	T	2: 27,922,616 (GRCm39)	D1717V	unknown	Het
Dab2	T	C	15: 6,460,435 (GRCm39)	S448P	possibly damaging	Het
Dnajb1	T	C	8: 84,335,173 (GRCm39)		probably null	Het
Dock9	C	T	14: 121,842,601 (GRCm39)	G1223D	probably benign	Het
Elp2	A	G	18: 24,765,869 (GRCm39)	R670G	probably damaging	Het
Eppk1	T	C	15: 75,994,668 (GRCm39)	I738V	probably benign	Het
Gas2l2	T	A	11: 83,313,031 (GRCm39)	R760S	probably damaging	Het
H1f7	C	T	15: 98,155,138 (GRCm39)	A4T	probably damaging	Het
Kif17	G	A	4: 138,005,253 (GRCm39)	V273I	probably damaging	Het
Klhdc4	T	C	8: 122,526,224 (GRCm39)	D336G	probably damaging	Het
Lmod2	A	G	6: 24,603,568 (GRCm39)	N181S	probably benign	Het
Lrp8	G	A	4: 107,700,515 (GRCm39)	G151D	possibly damaging	Het
Mb21d2	C	T	16: 28,647,261 (GRCm39)	V238M	probably damaging	Het
Mfsd4b3-ps	T	G	10: 39,823,247 (GRCm39)	I338L	probably benign	Het
Nkain2	C	T	10: 32,766,125 (GRCm39)	A112T	unknown	Het
Or14c41	T	A	7: 86,235,247 (GRCm39)	Y255N	possibly damaging	Het
Or52n2b	T	A	7: 104,565,583 (GRCm39)	I307F	probably benign	Het
Or5b12b	T	A	19: 12,861,875 (GRCm39)	V210E	possibly damaging	Het
Or5i1	A	G	2: 87,612,883 (GRCm39)	I2V	probably benign	Het
Phyhipl	T	C	10: 70,395,243 (GRCm39)	Y321C	possibly damaging	Het
Ppm1k	T	C	6: 57,487,720 (GRCm39)	S368G	probably damaging	Het
Ranbp6	T	C	19: 29,787,163 (GRCm39)	D1063G	possibly damaging	Het
Sars2	T	C	7: 28,449,438 (GRCm39)	M322T	probably benign	Het
Serbp1	G	A	6: 67,244,313 (GRCm39)	R78H	probably benign	Het
Sfxn2	T	A	19: 46,574,192 (GRCm39)	N127K	probably damaging	Het
Sgsm1	A	T	5: 113,423,898 (GRCm39)		probably null	Het
Slc22a22	T	C	15: 57,108,342 (GRCm39)	Y491C	probably damaging	Het
Slc22a22	T	A	15: 57,127,052 (GRCm39)	I6F	probably damaging	Het
Smpd1	C	T	7: 105,204,789 (GRCm39)	L223F	probably damaging	Het
Spem1	T	C	11: 69,711,741 (GRCm39)	K308E	probably benign	Het
Spsb1	A	T	4: 149,990,907 (GRCm39)	C220*	probably null	Het
Syngap1	T	A	17: 27,173,962 (GRCm39)	S190R	possibly damaging	Het
Tars3	T	C	7: 65,339,719 (GRCm39)	S705P	possibly damaging	Het
Tbc1d16	G	T	11: 119,044,781 (GRCm39)	F553L	probably damaging	Het
Thbs2	A	G	17: 14,910,435 (GRCm39)	Y55H	probably damaging	Het
Tmem220	T	C	11: 66,924,979 (GRCm39)	I138T	possibly damaging	Het
Tut7	G	A	13: 59,963,512 (GRCm39)	T282I	probably damaging	Het
Txnl1	T	C	18: 63,810,050 (GRCm39)	N131S	probably benign	Het
Vat1	T	C	11: 101,353,846 (GRCm39)	T175A	possibly damaging	Het
Veph1	T	A	3: 66,029,066 (GRCm39)	D651V	probably benign	Het
Zfp281	T	A	1: 136,554,500 (GRCm39)	S493T	probably benign	Het
Zpld2	G	A	4: 133,929,312 (GRCm39)	P331L	probably benign	Het

Other mutations in Pacs2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01774:Pacs2	APN	12	113,020,462 (GRCm39)	missense	probably benign	0.01
IGL01830:Pacs2	APN	12	113,020,574 (GRCm39)	nonsense	probably null
IGL02229:Pacs2	APN	12	113,020,420 (GRCm39)	splice site	probably benign
IGL02307:Pacs2	APN	12	113,034,393 (GRCm39)	missense	probably damaging	1.00
IGL02700:Pacs2	APN	12	113,025,330 (GRCm39)	missense	probably damaging	1.00
BB003:Pacs2	UTSW	12	113,024,372 (GRCm39)	missense	probably damaging	1.00
BB013:Pacs2	UTSW	12	113,024,372 (GRCm39)	missense	probably damaging	1.00
R0241:Pacs2	UTSW	12	113,032,890 (GRCm39)	splice site	probably benign
R0433:Pacs2	UTSW	12	113,020,464 (GRCm39)	missense	possibly damaging	0.77
R0512:Pacs2	UTSW	12	113,014,547 (GRCm39)	missense	probably damaging	0.99
R0761:Pacs2	UTSW	12	113,023,688 (GRCm39)	splice site	probably benign
R2017:Pacs2	UTSW	12	113,026,077 (GRCm39)	missense	probably damaging	1.00
R2070:Pacs2	UTSW	12	113,024,731 (GRCm39)	missense	probably damaging	1.00
R2162:Pacs2	UTSW	12	113,014,567 (GRCm39)	missense	probably benign
R2231:Pacs2	UTSW	12	113,026,987 (GRCm39)	missense	probably damaging	1.00
R2232:Pacs2	UTSW	12	113,026,987 (GRCm39)	missense	probably damaging	1.00
R2396:Pacs2	UTSW	12	113,026,987 (GRCm39)	missense	probably damaging	1.00
R2397:Pacs2	UTSW	12	113,026,987 (GRCm39)	missense	probably damaging	1.00
R3010:Pacs2	UTSW	12	113,024,700 (GRCm39)	missense	probably benign
R3403:Pacs2	UTSW	12	113,014,570 (GRCm39)	missense	probably damaging	1.00
R3950:Pacs2	UTSW	12	113,024,733 (GRCm39)	missense	probably damaging	1.00
R3952:Pacs2	UTSW	12	113,024,733 (GRCm39)	missense	probably damaging	1.00
R4518:Pacs2	UTSW	12	113,024,289 (GRCm39)	missense	probably benign	0.31
R5673:Pacs2	UTSW	12	113,032,618 (GRCm39)	missense	probably damaging	1.00
R5693:Pacs2	UTSW	12	113,013,526 (GRCm39)	missense	probably damaging	1.00
R7212:Pacs2	UTSW	12	113,025,312 (GRCm39)	missense	possibly damaging	0.77
R7926:Pacs2	UTSW	12	113,024,372 (GRCm39)	missense	probably damaging	1.00
R8032:Pacs2	UTSW	12	113,025,278 (GRCm39)	missense	probably damaging	1.00
R8224:Pacs2	UTSW	12	113,023,380 (GRCm39)	missense	probably damaging	1.00
R8944:Pacs2	UTSW	12	113,020,476 (GRCm39)	missense	probably damaging	1.00
R9036:Pacs2	UTSW	12	113,026,104 (GRCm39)	missense	possibly damaging	0.93
R9253:Pacs2	UTSW	12	113,014,137 (GRCm39)	missense	probably benign	0.00
Z1177:Pacs2	UTSW	12	113,034,350 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGCCTCACAATGTTGCAG -3'
(R):5'- GGAAGTATCCACAGAGTGATGCC -3'

Sequencing Primer
(F):5'- CCTCACAATGTTGCAGATTCTTGAGG -3'
(R):5'- TATCCACAGAGTGATGCCACAGTG -3'

Posted On

2022-06-15