Mutagenetix > Incidental Mutation

Incidental Mutation 'R6894:Ptpdc1'

538250

Institutional Source

Beutler Lab

Gene Symbol

Ptpdc1

Ensembl Gene

ENSMUSG00000038042

Gene Name

protein tyrosine phosphatase domain containing 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6894 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

48577872-48625664 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48590638 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 169 (E169G)

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: E108G

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000047374
Gene: ENSMUSG00000038042
AA Change: E108G

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

probably benign
Transcript: ENSMUST00000222028
AA Change: E169G

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

unknown
Transcript: ENSMUST00000223025
AA Change: S86G

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.5%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	G	A	6: 48,930,662	A199T	probably damaging	Het
2410089E03Rik	T	C	15: 8,187,368	L690P	probably damaging	Het
4921509C19Rik	C	A	2: 151,473,307	L150F	probably damaging	Het
4930449I24Rik	G	A	5: 146,504,732	E230K	possibly damaging	Het
4930449I24Rik	A	T	5: 146,504,733	E230V	probably benign	Het
9430038I01Rik	A	G	7: 137,387,388	C93R	possibly damaging	Het
Apobec1	T	C	6: 122,591,242		probably benign	Het
Arl4c	T	A	1: 88,701,375	D97V	probably damaging	Het
Ash1l	A	G	3: 88,982,991	T726A	probably benign	Het
Asz1	A	C	6: 18,055,521	F359V	probably damaging	Het
Atr	T	A	9: 95,927,197	L1970H	probably damaging	Het
Baz2a	G	T	10: 128,123,581	A1322S	possibly damaging	Het
Cd209e	T	A	8: 3,853,569	I37F	possibly damaging	Het
Cd209f	T	C	8: 4,105,477	K37R	probably benign	Het
Cd5	G	C	19: 10,738,839	S3C	possibly damaging	Het
Clec16a	A	T	16: 10,644,854	I260F	probably damaging	Het
Cltc	A	T	11: 86,712,602	Y799*	probably null	Het
Csde1	G	A	3: 103,044,656	V258I	possibly damaging	Het
Dennd5a	G	T	7: 109,901,118	H909Q	probably damaging	Het
Dnah12	A	G	14: 26,735,749	D890G	probably damaging	Het
Dnah2	A	T	11: 69,484,260	M1379K	probably benign	Het
Dpp10	A	T	1: 123,336,864	I743N	probably damaging	Het
Dpp9	T	A	17: 56,188,321	T815S	probably damaging	Het
Ears2	T	C	7: 122,048,224	N279S	probably damaging	Het
Ect2l	A	G	10: 18,169,380		probably null	Het
Eomes	C	G	9: 118,481,285	P288A	probably damaging	Het
Fam205a1	G	A	4: 42,850,291	P622S	probably benign	Het
Fat3	T	C	9: 15,997,776	D2310G	probably damaging	Het
Fignl2	T	C	15: 101,053,973	T143A	probably benign	Het
Gdf9	A	G	11: 53,436,819	K201E	possibly damaging	Het
Gfra3	C	T	18: 34,695,657	R228Q	probably damaging	Het
Grin1	A	T	2: 25,295,817	V876E	probably damaging	Het
Igkv12-41	A	C	6: 69,858,651	V39G	probably damaging	Het
Kat7	A	T	11: 95,284,084	M367K	possibly damaging	Het
Ly6d	T	C	15: 74,762,805	K33E	possibly damaging	Het
Lztfl1	T	C	9: 123,700,933	N273S	possibly damaging	Het
Macf1	T	A	4: 123,483,687	I1485F	possibly damaging	Het
March10	G	T	11: 105,396,961	L172I	possibly damaging	Het
Mdn1	T	G	4: 32,748,614	S4220A	possibly damaging	Het
Muc16	A	G	9: 18,495,576	V8460A	possibly damaging	Het
Myh14	A	G	7: 44,633,512	F769L	probably damaging	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Mylk4	A	G	13: 32,722,015	L395P	probably damaging	Het
Nat8f6	A	T	6: 85,808,522	L215*	probably null	Het
Nell2	T	C	15: 95,346,887	D443G	probably damaging	Het
Nkx6-3	A	G	8: 23,157,616	K197R	probably benign	Het
Nt5c3	A	T	6: 56,882,973	L293*	probably null	Het
Ntrk1	A	T	3: 87,782,802	V429D	probably damaging	Het
Obscn	A	G	11: 59,132,682	V623A	probably benign	Het
Olfr1054	A	T	2: 86,332,951	I135N	probably damaging	Het
Olfr1231	A	G	2: 89,303,493	L33S	probably damaging	Het
Olfr1394	T	C	11: 49,160,359	F115S	probably benign	Het
Olfr203	A	G	16: 59,303,779	T209A	probably damaging	Het
Olfr467	C	T	7: 107,815,064	T160I	probably benign	Het
Olfr821	T	C	10: 130,034,309	S228P	probably damaging	Het
Pate3	T	A	9: 35,646,673	D33V	probably damaging	Het
Pcnx	T	A	12: 81,987,973	I1843N	probably damaging	Het
Pla2g4f	A	T	2: 120,303,596	I503N	probably benign	Het
Prkg1	C	A	19: 30,624,774	E361*	probably null	Het
Proca1	A	G	11: 78,194,787		probably benign	Het
Prss38	G	T	11: 59,373,024	H287Q	probably benign	Het
Ptpn21	T	C	12: 98,715,181	S65G	probably damaging	Het
Rfx6	A	T	10: 51,716,039	H177L	probably damaging	Het
Slc20a2	G	A	8: 22,560,593	G276D	possibly damaging	Het
Spag6l	A	T	16: 16,783,938	L159I	probably damaging	Het
St3gal1	A	G	15: 67,111,346	V187A	possibly damaging	Het
Stk33	T	A	7: 109,336,062	E174D	possibly damaging	Het
Stxbp5	A	T	10: 9,784,361	V730E	probably benign	Het
Tmprss15	A	T	16: 79,075,814	L168*	probably null	Het
Tnrc18	A	T	5: 142,760,049	M1323K	unknown	Het
Tpr	T	C	1: 150,436,847	V1932A	probably benign	Het
Trak2	A	G	1: 58,911,733	S432P	probably damaging	Het
Ttn	A	T	2: 76,908,190	F4002I	probably benign	Het
Txndc11	G	A	16: 11,088,145	T507I	probably damaging	Het
Usp12	G	A	5: 146,754,539	T135I	possibly damaging	Het
Vit	T	A	17: 78,626,758	Y596*	probably null	Het
Vmn1r32	A	T	6: 66,553,361	Y144N	possibly damaging	Het
Vmn2r80	G	T	10: 79,169,604	L358F	probably benign	Het
Zfp382	T	G	7: 30,125,836	S38A	probably benign	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
R3950:Ptpdc1	UTSW	13	48589194	missense	probably damaging	1.00
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
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'- CGGTTATAAGGACCTGGAGTGG -3'
(R):5'- CTAGTTGTGATGTAGAATTGATGCC -3'

Sequencing Primer
(F):5'- GAGTGGTGAAAAATCAGATTTTAGC -3'
(R):5'- CCTGTAATGTAGACTCTCCTG -3'

Posted On

2018-11-06