Mutagenetix > Incidental Mutations

Incidental Mutation 'R5271:Ptpdc1'

400342

Institutional Source

Beutler Lab

Gene Symbol

Ptpdc1

Ensembl Gene

ENSMUSG00000038042

Gene Name

protein tyrosine phosphatase domain containing 1

Synonyms

MMRRC Submission

042861-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5271 (G1)

Quality Score

203

Status

Validated

Chromosome

Chromosomal Location

48577872-48625664 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48590698 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 149 (D149G)

Ref Sequence

ENSEMBL: ENSMUSP00000152771 (fasta)

Gene Model

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

AlphaFold

Q6NZK8

Predicted Effect

probably damaging
Transcript: ENSMUST00000035824
AA Change: D88G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000047374
Gene: ENSMUSG00000038042
AA Change: D88G

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: D149G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

unknown
Transcript: ENSMUST00000223025
AA Change: T66A

Meta Mutation Damage Score

0.1678

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.6%

Validation Efficiency

97% (65/67)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	C	3: 124,579,847	K33R	possibly damaging	Het
4632415L05Rik	C	T	3: 19,895,147		noncoding transcript	Het
4930542C16Rik	A	C	14: 24,615,530		noncoding transcript	Het
Adprh	A	T	16: 38,446,054	L242*	probably null	Het
Anapc1	G	A	2: 128,685,985	Q18*	probably null	Het
Bfar	T	C	16: 13,692,397		probably benign	Het
Bmp1	T	C	14: 70,508,128	I206V	probably benign	Het
Cc2d1b	T	A	4: 108,623,629		probably benign	Het
Clock	A	G	5: 76,241,954	I349T	probably damaging	Het
Cox11	A	G	11: 90,643,732	Y60C	probably damaging	Het
Cyp1a1	G	A	9: 57,702,838	V512M	probably benign	Het
Dcdc2a	T	C	13: 25,187,688	F311S	probably benign	Het
Dnase1l3	T	C	14: 7,993,843	D48G	probably damaging	Het
Engase	G	T	11: 118,481,397	A172S	probably damaging	Het
F2	T	C	2: 91,635,121		probably benign	Het
Gcc2	T	C	10: 58,269,695	V215A	possibly damaging	Het
Gm11677	C	T	11: 111,724,711		noncoding transcript	Het
Gm14548	A	T	7: 3,897,567	Y61*	probably null	Het
Gm20388	A	G	8: 122,271,133		probably benign	Het
Gm20671	T	C	5: 32,819,959	K1817R	possibly damaging	Het
Gm20939	T	A	17: 94,877,155	Y410*	probably null	Het
Gm27013	T	C	6: 130,676,915	Y528C	probably damaging	Het
Gm9992	T	C	17: 7,369,682	N149S	possibly damaging	Het
Il23r	T	C	6: 67,423,696	H550R	probably benign	Het
Iqgap1	A	T	7: 80,734,148	V1056E	probably damaging	Het
Lrit3	T	A	3: 129,788,301	Y679F	probably damaging	Het
Megf8	A	T	7: 25,341,706	E1120V	probably damaging	Het
Mta1	A	G	12: 113,131,957	E518G	probably damaging	Het
Myo9a	A	G	9: 59,907,382	I2200M	probably damaging	Het
Ncoa7	T	C	10: 30,722,729	H66R	probably benign	Het
Ncor1	A	G	11: 62,340,545	V812A	probably damaging	Het
Ndnf	T	C	6: 65,703,666	Y310H	possibly damaging	Het
Ndst1	G	A	18: 60,705,132	T347I	probably benign	Het
Olfr1229	A	T	2: 89,282,953	F60Y	probably benign	Het
Olfr512	T	C	7: 108,714,217	L276S	probably damaging	Het
Pcdhb10	C	A	18: 37,413,169	Q433K	probably benign	Het
Pcdhb18	G	A	18: 37,491,596	V660M	possibly damaging	Het
Pds5b	T	A	5: 150,723,353	N202K	possibly damaging	Het
Polk	T	C	13: 96,483,539	S718G	probably benign	Het
Rb1cc1	T	A	1: 6,249,193	C35*	probably null	Het
Samd9l	C	T	6: 3,376,156	M368I	probably benign	Het
Shroom3	T	C	5: 92,962,248	M1739T	probably damaging	Het
Slc18a3	A	G	14: 32,463,748	L226P	probably damaging	Het
St7l	A	T	3: 104,868,060	Y84F	probably damaging	Het
Svil	A	T	18: 5,062,329	N392I	probably benign	Het
Syngr1	T	A	15: 80,098,039	M9K	probably benign	Het
Taar2	T	C	10: 23,941,032	S157P	probably damaging	Het
Tagap1	G	T	17: 6,956,096	Y400*	probably null	Het
Tbc1d8	T	A	1: 39,373,767	E976V	probably damaging	Het
Tmem163	G	A	1: 127,491,552		probably benign	Het
Tnfaip2	A	G	12: 111,448,460		probably benign	Het
Ttn	C	T	2: 76,706,517	S34988N	possibly damaging	Het
Tubg1	T	G	11: 101,120,238	N15K	probably damaging	Het
Vmn2r-ps159	G	T	4: 156,334,397		noncoding transcript	Het
Zap70	T	A	1: 36,781,365	V547D	probably damaging	Het
Zfp146	G	T	7: 30,162,475	N47K	probably benign	Het
Znrf1	T	G	8: 111,609,344	M159R	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
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

Predicted Primers

PCR Primer
(F):5'- AAATCAGCTCTTCACTGCCCG -3'
(R):5'- TTGTCAGAATCCTTAGGTCCTG -3'

Sequencing Primer
(F):5'- TCAGCTCAAGAAGAGCAC -3'
(R):5'- TCCCAGGGATTTAAGGAGCTG -3'

Posted On

2016-07-06