Mutagenetix > Incidental Mutation

Incidental Mutation 'R3950:Ptpdc1'

307892

Institutional Source

Beutler Lab

Gene Symbol

Ptpdc1

Ensembl Gene

ENSMUSG00000038042

Gene Name

protein tyrosine phosphatase domain containing 1

Synonyms

MMRRC Submission

040930-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3950 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48577872-48625664 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48589194 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 173 (M173K)

Ref Sequence

ENSEMBL: ENSMUSP00000047374 (fasta)

Gene Model

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

AlphaFold

Q6NZK8

Predicted Effect

probably damaging
Transcript: ENSMUST00000035824
AA Change: M173K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047374
Gene: ENSMUSG00000038042
AA Change: M173K

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: ENSMUST00000221424

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221947

Predicted Effect

probably damaging
Transcript: ENSMUST00000222028
AA Change: M234K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000223025

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,664,403		probably null	Het
Ahnak2	A	T	12: 112,785,789	I186N	probably damaging	Het
Appbp2	A	G	11: 85,194,706	I458T	probably damaging	Het
Arhgef25	T	C	10: 127,185,144	Y291C	probably damaging	Het
Ate1	T	C	7: 130,467,292	Y415C	probably damaging	Het
B4galt4	G	T	16: 38,768,022	A72S	probably benign	Het
C3	T	C	17: 57,225,286	R178G	probably benign	Het
Cdh23	T	C	10: 60,657,326	Y3C	probably benign	Het
Col11a1	T	C	3: 114,121,445		probably null	Het
Col22a1	A	G	15: 71,977,358	F294L	possibly damaging	Het
Dera	A	G	6: 137,837,120	Y100C	probably damaging	Het
Dync2h1	A	T	9: 7,112,061	Y276*	probably null	Het
Eea1	A	T	10: 96,042,134	N1389I	probably damaging	Het
Epha4	A	T	1: 77,399,716	Y509N	probably damaging	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Fezf1	T	A	6: 23,247,420	K219*	probably null	Het
Fsd1	G	A	17: 55,995,517		probably null	Het
Haspin	A	G	11: 73,136,395	Y623H	probably damaging	Het
Hsd3b1	C	T	3: 98,856,138	V56M	possibly damaging	Het
Hyou1	C	T	9: 44,385,227	T483I	probably damaging	Het
Kdm2a	A	G	19: 4,343,232	L365S	possibly damaging	Het
Kdm6b	G	T	11: 69,405,615	P609T	probably damaging	Het
Klhl18	T	A	9: 110,428,902	Y490F	probably damaging	Het
Ky	C	T	9: 102,542,428	Q545*	probably null	Het
L1td1	T	C	4: 98,737,353	L595P	probably benign	Het
Map3k20	T	G	2: 72,438,300	I550M	probably damaging	Het
Mug1	T	A	6: 121,878,530	V941E	probably damaging	Het
Ndst1	T	C	18: 60,697,139	N633S	probably benign	Het
Ninl	A	T	2: 150,952,488	I740K	possibly damaging	Het
Npepl1	A	G	2: 174,121,113	N431D	probably damaging	Het
Olfr1128	T	C	2: 87,545,065	T160A	probably damaging	Het
Pacs2	T	C	12: 113,061,113	S408P	probably damaging	Het
Pard6b	C	T	2: 168,099,194	T367I	probably damaging	Het
Pcdhga7	A	G	18: 37,716,515	E525G	probably damaging	Het
Pctp	A	G	11: 89,987,318	I130T	probably benign	Het
Pcx	C	T	19: 4,617,967	H506Y	probably benign	Het
Pdhx	A	G	2: 103,035,241	S199P	probably damaging	Het
Pdia2	C	A	17: 26,197,616		probably null	Het
Pif1	C	A	9: 65,591,834	N445K	probably damaging	Het
Prickle4	T	C	17: 47,688,582	K349E	probably benign	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Rb1	A	G	14: 73,262,662	L515P	probably damaging	Het
Rcvrn	A	G	11: 67,700,051	K154E	probably damaging	Het
Ros1	C	T	10: 52,066,388	V2059I	probably damaging	Het
Rtn4ip1	T	A	10: 43,909,897		probably null	Het
Sema5a	T	C	15: 32,689,338	Y1050H	probably damaging	Het
Slc25a28	C	T	19: 43,664,269	V318I	probably benign	Het
Srek1	G	A	13: 103,744,895	R408W	unknown	Het
Synrg	C	T	11: 83,989,815	T444I	probably damaging	Het
Ticrr	T	C	7: 79,682,069	L776S	probably damaging	Het
Tmem127	T	C	2: 127,248,657	L31P	probably damaging	Het
Tmprss15	T	A	16: 79,073,186	T190S	probably benign	Het
Trip10	T	A	17: 57,253,411		probably null	Het
Ttc6	A	G	12: 57,649,506	Y31C	probably damaging	Het
Unc80	A	T	1: 66,622,570	H1718L	possibly damaging	Het
Zbtb38	A	G	9: 96,687,546	F495S	probably damaging	Het
Zfp280d	G	T	9: 72,296,019	Q16H	possibly damaging	Het
Zfp521	A	G	18: 13,846,346	S337P	probably damaging	Het
Zswim9	T	A	7: 13,261,577	T218S	possibly damaging	Het

Other mutations in Ptpdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:Ptpdc1	APN	13	48587058	missense	possibly damaging	0.80
IGL01410:Ptpdc1	APN	13	48586604	missense	probably damaging	0.99
IGL02931:Ptpdc1	APN	13	48590619	splice site	probably benign
IGL03180:Ptpdc1	APN	13	48586077	missense	probably damaging	1.00
PIT4519001:Ptpdc1	UTSW	13	48583156	missense	probably benign	0.29
PIT4687001:Ptpdc1	UTSW	13	48586290	missense	probably benign	0.15
R0014:Ptpdc1	UTSW	13	48586919	nonsense	probably null
R0244:Ptpdc1	UTSW	13	48585980	missense	probably benign	0.00
R0420:Ptpdc1	UTSW	13	48589119	critical splice donor site	probably null
R0690:Ptpdc1	UTSW	13	48586905	missense	probably benign	0.33
R0946:Ptpdc1	UTSW	13	48586810	missense	probably damaging	1.00
R1076:Ptpdc1	UTSW	13	48586810	missense	probably damaging	1.00
R1387:Ptpdc1	UTSW	13	48586320	missense	possibly damaging	0.85
R1459:Ptpdc1	UTSW	13	48586697	missense	possibly damaging	0.62
R1688:Ptpdc1	UTSW	13	48586224	missense	probably benign	0.28
R1732:Ptpdc1	UTSW	13	48586545	missense	probably benign	0.00
R2097:Ptpdc1	UTSW	13	48592659	critical splice acceptor site	probably null
R2570:Ptpdc1	UTSW	13	48586063	missense	probably benign	0.02
R4260:Ptpdc1	UTSW	13	48579758	missense	probably benign	0.33
R5194:Ptpdc1	UTSW	13	48586789	missense	possibly damaging	0.91
R5271:Ptpdc1	UTSW	13	48590698	missense	probably damaging	1.00
R5894:Ptpdc1	UTSW	13	48590322	missense	probably damaging	1.00
R5934:Ptpdc1	UTSW	13	48586369	missense	probably benign	0.08
R6894:Ptpdc1	UTSW	13	48590638	missense	probably benign	0.21
R7056:Ptpdc1	UTSW	13	48586990	missense	possibly damaging	0.65
R7436:Ptpdc1	UTSW	13	48586666	missense	probably benign	0.01
R7719:Ptpdc1	UTSW	13	48586290	missense	probably benign	0.15
R7827:Ptpdc1	UTSW	13	48579788	missense	probably damaging	1.00
R7969:Ptpdc1	UTSW	13	48587101	missense	probably damaging	1.00
R7986:Ptpdc1	UTSW	13	48592570	missense	probably damaging	1.00
R8330:Ptpdc1	UTSW	13	48597914	missense	probably benign	0.00
R8500:Ptpdc1	UTSW	13	48586283	nonsense	probably null
R8687:Ptpdc1	UTSW	13	48586660	missense	possibly damaging	0.90
R8874:Ptpdc1	UTSW	13	48590692	missense	probably damaging	1.00
R9130:Ptpdc1	UTSW	13	48586179	missense	probably benign	0.04
R9284:Ptpdc1	UTSW	13	48586691	missense	probably benign	0.04
R9290:Ptpdc1	UTSW	13	48586745	missense	probably benign	0.02
R9309:Ptpdc1	UTSW	13	48583131	missense	probably benign	0.00
R9359:Ptpdc1	UTSW	13	48586554	missense	probably benign	0.38
R9369:Ptpdc1	UTSW	13	48583246	missense	possibly damaging	0.95
R9661:Ptpdc1	UTSW	13	48586134	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- GCTCCATTTACATAAGCTAGTCAG -3'
(R):5'- ACCAGCTGAGTTTCACAGAAAATG -3'

Sequencing Primer
(F):5'- GCTTTAAACACAATGAGTTTTCAGC -3'
(R):5'- GGATCCCTGTGAGTTCAAGACCATC -3'

Posted On

2015-04-17