Mutagenetix > Incidental Mutation

Incidental Mutation 'R2570:Ptpdc1'

252408

Institutional Source

Beutler Lab

Gene Symbol

Ptpdc1

Ensembl Gene

ENSMUSG00000038042

Gene Name

protein tyrosine phosphatase domain containing 1

Synonyms

MMRRC Submission

040428-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2570 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48731348-48779140 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 48739539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 631 (A631T)

Ref Sequence

ENSEMBL: ENSMUSP00000152771 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035824] [ENSMUST00000222028] [ENSMUST00000223025]

AlphaFold

Q6NZK8

Predicted Effect

probably benign
Transcript: ENSMUST00000035824
AA Change: A570T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000047374
Gene: ENSMUSG00000038042
AA Change: A570T

Domain	Start	End	E-Value	Type
Pfam:DSPc	102	243	1.1e-13	PFAM
Pfam:Y_phosphatase	144	242	8.9e-10	PFAM
low complexity region	598	610	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221887

Predicted Effect

probably benign
Transcript: ENSMUST00000222028
AA Change: A631T

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000223025

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a centrosomal mitotic phosphatase. This protein has been implicated in centrosomal duplication and cytokinesis. In addition, knockdown of expression levels in non-cycling cells results in extra long cilia, suggesting that this protein may function in regulating cilia length independent of a function in cell cycle control. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	A	5: 121,768,267 (GRCm39)	N763I	probably damaging	Het
Actr8	T	C	14: 29,709,239 (GRCm39)	V281A	probably damaging	Het
Adam1b	A	T	5: 121,639,811 (GRCm39)	N411K	probably damaging	Het
Adamdec1	T	A	14: 68,816,657 (GRCm39)	Q77L	probably damaging	Het
Adgre4	T	A	17: 56,085,878 (GRCm39)	F59Y	possibly damaging	Het
Akr1c18	T	C	13: 4,192,163 (GRCm39)	N178S	probably benign	Het
Aldh1a7	T	A	19: 20,677,320 (GRCm39)	T434S	probably benign	Het
Bcl10	T	A	3: 145,638,785 (GRCm39)	N142K	probably benign	Het
C1qc	T	C	4: 136,617,402 (GRCm39)	I231M	probably benign	Het
Cacna1b	A	T	2: 24,496,649 (GRCm39)	L2307*	probably null	Het
Cadm2	G	A	16: 66,612,271 (GRCm39)	S106L	probably damaging	Het
Cdc42bpa	G	A	1: 179,977,742 (GRCm39)	R1518Q	possibly damaging	Het
Cdk12	T	G	11: 98,094,618 (GRCm39)	M142R	possibly damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cspg4b	C	T	13: 113,455,121 (GRCm39)	T389I	probably benign	Het
Cyp2c50	C	G	19: 40,078,764 (GRCm39)	H90D	probably benign	Het
Dach1	A	G	14: 98,138,847 (GRCm39)	M480T	probably benign	Het
Dennd1a	A	T	2: 37,734,795 (GRCm39)	F57L	probably damaging	Het
Dhcr24	T	C	4: 106,443,029 (GRCm39)	F355L	probably benign	Het
Drc1	A	G	5: 30,512,609 (GRCm39)	R339G	probably damaging	Het
Efcab3	T	A	11: 104,624,490 (GRCm39)	S840R	probably damaging	Het
Efna5	A	T	17: 63,188,023 (GRCm39)	Y35N	probably benign	Het
Ehmt1	A	G	2: 24,705,753 (GRCm39)	V811A	probably damaging	Het
Fam135a	A	T	1: 24,061,045 (GRCm39)	V1114E	probably damaging	Het
Frmd8	C	A	19: 5,924,740 (GRCm39)	R28L	probably damaging	Het
Gm9936	A	G	5: 114,995,605 (GRCm39)		probably benign	Het
Hgsnat	C	T	8: 26,435,280 (GRCm39)	W618*	probably null	Het
Itgal	T	C	7: 126,913,268 (GRCm39)	F622L	probably damaging	Het
Kalrn	C	T	16: 34,130,865 (GRCm39)	E451K	probably damaging	Het
Kat2a	A	T	11: 100,601,648 (GRCm39)	F256I	probably damaging	Het
Lama4	A	T	10: 38,951,354 (GRCm39)	D1033V	possibly damaging	Het
Lama4	T	A	10: 38,982,043 (GRCm39)	D1757E	probably damaging	Het
Laptm5	T	C	4: 130,659,358 (GRCm39)	Y212H	probably damaging	Het
Lsm10	T	C	4: 125,991,716 (GRCm39)	L24P	probably damaging	Het
Mtcl3	A	T	10: 29,022,761 (GRCm39)	Q36L	possibly damaging	Het
Mtfp1	T	C	11: 4,044,504 (GRCm39)	E27G	probably damaging	Het
Ncaph2	C	A	15: 89,254,678 (GRCm39)	D399E	probably benign	Het
Ncor2	T	C	5: 125,105,864 (GRCm39)		probably null	Het
Nek9	A	C	12: 85,379,320 (GRCm39)	Y195*	probably null	Het
Npas1	T	C	7: 16,208,628 (GRCm39)	D83G	probably damaging	Het
Nrsn2	A	T	2: 152,211,741 (GRCm39)	F97I	possibly damaging	Het
Oas1c	T	C	5: 120,943,503 (GRCm39)	N10S	probably benign	Het
Or2ag12	A	G	7: 106,276,874 (GRCm39)	I273T	probably benign	Het
Or55b10	T	C	7: 102,143,106 (GRCm39)	N292S	probably damaging	Het
Or7e165	T	A	9: 19,695,305 (GRCm39)	L292Q	probably damaging	Het
Pcdha4	A	T	18: 37,086,665 (GRCm39)	T283S	probably benign	Het
Pdk1	A	C	2: 71,703,904 (GRCm39)	D64A	possibly damaging	Het
Pramel17	T	C	4: 101,694,443 (GRCm39)	T147A	probably benign	Het
Rasal2	G	T	1: 156,988,870 (GRCm39)	A660E	possibly damaging	Het
Sgpp2	T	A	1: 78,336,787 (GRCm39)	V55E	possibly damaging	Het
Shank2	A	T	7: 143,622,507 (GRCm39)	I214F	probably damaging	Het
Slfn14	T	C	11: 83,174,433 (GRCm39)	N186S	probably benign	Het
Sptbn5	A	T	2: 119,879,121 (GRCm39)		noncoding transcript	Het
Stradb	C	T	1: 59,027,743 (GRCm39)	T91I	probably damaging	Het
Sulf2	T	C	2: 165,927,721 (GRCm39)	I359V	probably benign	Het
Tbl3	A	T	17: 24,922,290 (GRCm39)	M405K	possibly damaging	Het
Tecta	G	T	9: 42,243,848 (GRCm39)	D2001E	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Tgfbi	T	A	13: 56,786,521 (GRCm39)		probably null	Het
Tmem132a	A	T	19: 10,837,106 (GRCm39)	L612Q	probably null	Het
Tnf	T	C	17: 35,419,476 (GRCm39)	N102S	probably damaging	Het
Trib3	A	T	2: 152,185,156 (GRCm39)	V31D	probably benign	Het
Ube2q2	T	A	9: 55,099,140 (GRCm39)	F248L	probably benign	Het
Usf3	T	C	16: 44,036,744 (GRCm39)	V408A	probably benign	Het
Vmn1r159	T	C	7: 22,542,307 (GRCm39)	M242V	probably benign	Het
Vmn2r105	A	T	17: 20,447,585 (GRCm39)	L413H	probably damaging	Het
Zbtb2	T	G	10: 4,318,673 (GRCm39)	N451T	probably damaging	Het
Zfp593	C	A	4: 133,972,869 (GRCm39)		probably benign	Het

Other mutations in Ptpdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:Ptpdc1	APN	13	48,740,534 (GRCm39)	missense	possibly damaging	0.80
IGL01410:Ptpdc1	APN	13	48,740,080 (GRCm39)	missense	probably damaging	0.99
IGL02931:Ptpdc1	APN	13	48,744,095 (GRCm39)	splice site	probably benign
IGL03180:Ptpdc1	APN	13	48,739,553 (GRCm39)	missense	probably damaging	1.00
PIT4519001:Ptpdc1	UTSW	13	48,736,632 (GRCm39)	missense	probably benign	0.29
PIT4687001:Ptpdc1	UTSW	13	48,739,766 (GRCm39)	missense	probably benign	0.15
R0014:Ptpdc1	UTSW	13	48,740,395 (GRCm39)	nonsense	probably null
R0244:Ptpdc1	UTSW	13	48,739,456 (GRCm39)	missense	probably benign	0.00
R0420:Ptpdc1	UTSW	13	48,742,595 (GRCm39)	critical splice donor site	probably null
R0690:Ptpdc1	UTSW	13	48,740,381 (GRCm39)	missense	probably benign	0.33
R0946:Ptpdc1	UTSW	13	48,740,286 (GRCm39)	missense	probably damaging	1.00
R1076:Ptpdc1	UTSW	13	48,740,286 (GRCm39)	missense	probably damaging	1.00
R1387:Ptpdc1	UTSW	13	48,739,796 (GRCm39)	missense	possibly damaging	0.85
R1459:Ptpdc1	UTSW	13	48,740,173 (GRCm39)	missense	possibly damaging	0.62
R1688:Ptpdc1	UTSW	13	48,739,700 (GRCm39)	missense	probably benign	0.28
R1732:Ptpdc1	UTSW	13	48,740,021 (GRCm39)	missense	probably benign	0.00
R2097:Ptpdc1	UTSW	13	48,746,135 (GRCm39)	critical splice acceptor site	probably null
R3950:Ptpdc1	UTSW	13	48,742,670 (GRCm39)	missense	probably damaging	1.00
R4260:Ptpdc1	UTSW	13	48,733,234 (GRCm39)	missense	probably benign	0.33
R5194:Ptpdc1	UTSW	13	48,740,265 (GRCm39)	missense	possibly damaging	0.91
R5271:Ptpdc1	UTSW	13	48,744,174 (GRCm39)	missense	probably damaging	1.00
R5894:Ptpdc1	UTSW	13	48,743,798 (GRCm39)	missense	probably damaging	1.00
R5934:Ptpdc1	UTSW	13	48,739,845 (GRCm39)	missense	probably benign	0.08
R6894:Ptpdc1	UTSW	13	48,744,114 (GRCm39)	missense	probably benign	0.21
R7056:Ptpdc1	UTSW	13	48,740,466 (GRCm39)	missense	possibly damaging	0.65
R7436:Ptpdc1	UTSW	13	48,740,142 (GRCm39)	missense	probably benign	0.01
R7719:Ptpdc1	UTSW	13	48,739,766 (GRCm39)	missense	probably benign	0.15
R7827:Ptpdc1	UTSW	13	48,733,264 (GRCm39)	missense	probably damaging	1.00
R7969:Ptpdc1	UTSW	13	48,740,577 (GRCm39)	missense	probably damaging	1.00
R7986:Ptpdc1	UTSW	13	48,746,046 (GRCm39)	missense	probably damaging	1.00
R8330:Ptpdc1	UTSW	13	48,751,390 (GRCm39)	missense	probably benign	0.00
R8500:Ptpdc1	UTSW	13	48,739,759 (GRCm39)	nonsense	probably null
R8687:Ptpdc1	UTSW	13	48,740,136 (GRCm39)	missense	possibly damaging	0.90
R8874:Ptpdc1	UTSW	13	48,744,168 (GRCm39)	missense	probably damaging	1.00
R9130:Ptpdc1	UTSW	13	48,739,655 (GRCm39)	missense	probably benign	0.04
R9284:Ptpdc1	UTSW	13	48,740,167 (GRCm39)	missense	probably benign	0.04
R9290:Ptpdc1	UTSW	13	48,740,221 (GRCm39)	missense	probably benign	0.02
R9309:Ptpdc1	UTSW	13	48,736,607 (GRCm39)	missense	probably benign	0.00
R9359:Ptpdc1	UTSW	13	48,740,030 (GRCm39)	missense	probably benign	0.38
R9369:Ptpdc1	UTSW	13	48,736,722 (GRCm39)	missense	possibly damaging	0.95
R9661:Ptpdc1	UTSW	13	48,739,610 (GRCm39)	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- GGCCCACATTCTTAAGTAAGAGC -3'
(R):5'- CCATAAGGATCCAGAGCAGGTC -3'

Sequencing Primer
(F):5'- CATTCTTAAGTAAGAGCCAAGAGC -3'
(R):5'- TCCAGAGCAGGTCACCCATTG -3'

Posted On

2014-12-04