Mutagenetix > Incidental Mutation

Incidental Mutation 'R5934:Ptpdc1'

462126

Institutional Source

Beutler Lab

Gene Symbol

Ptpdc1

Ensembl Gene

ENSMUSG00000038042

Gene Name

protein tyrosine phosphatase domain containing 1

Synonyms

MMRRC Submission

044128-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5934 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48731348-48779140 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48739845 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 468 (K468E)

Ref Sequence

ENSEMBL: ENSMUSP00000047374 (fasta)

Gene Model

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

AlphaFold

Q6NZK8

Predicted Effect

probably benign
Transcript: ENSMUST00000035824
AA Change: K468E

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000047374
Gene: ENSMUSG00000038042
AA Change: K468E

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: K529E

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000223025

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 8,980,806 (GRCm39)	V596A	probably benign	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Afg1l	G	A	10: 42,194,682 (GRCm39)	T370M	probably damaging	Het
Aldh2	T	C	5: 121,717,678 (GRCm39)	T118A	probably benign	Het
Apcdd1	C	T	18: 63,084,940 (GRCm39)	A379V	possibly damaging	Het
Atp1a3	T	C	7: 24,678,299 (GRCm39)		probably benign	Het
Calhm5	A	G	10: 33,968,198 (GRCm39)	V285A	possibly damaging	Het
Cd96	G	T	16: 45,938,266 (GRCm39)	D66E	probably benign	Het
Cdh5	T	A	8: 104,864,900 (GRCm39)	V506E	probably benign	Het
Cep70	T	C	9: 99,136,318 (GRCm39)	I7T	probably benign	Het
Ckb	A	T	12: 111,636,663 (GRCm39)	V237D	probably damaging	Het
Col6a6	C	T	9: 105,644,274 (GRCm39)	D1306N	probably damaging	Het
Cysltr2	T	C	14: 73,266,931 (GRCm39)	K260E	probably benign	Het
Ddhd2	A	G	8: 26,243,140 (GRCm39)	S19P	probably damaging	Het
Dnah17	G	T	11: 117,931,928 (GRCm39)	D3681E	probably benign	Het
Dop1a	T	A	9: 86,424,495 (GRCm39)	Y2068*	probably null	Het
Fryl	T	C	5: 73,248,060 (GRCm39)	Y1019C	probably damaging	Het
Fsip2	G	A	2: 82,817,092 (GRCm39)	C4275Y	possibly damaging	Het
Gapdh	A	G	6: 125,139,664 (GRCm39)	V202A	probably damaging	Het
Gmeb2	T	C	2: 180,897,367 (GRCm39)	I250M	possibly damaging	Het
Gpr88	C	T	3: 116,045,958 (GRCm39)	G118R	probably damaging	Het
Hdhd3	C	A	4: 62,417,607 (GRCm39)	V190L	possibly damaging	Het
Heg1	C	T	16: 33,547,289 (GRCm39)	T461M	probably damaging	Het
Hspg2	A	G	4: 137,246,083 (GRCm39)	Y989C	probably damaging	Het
Ift74	A	T	4: 94,520,971 (GRCm39)	M175L	probably benign	Het
Kcnh3	G	A	15: 99,124,414 (GRCm39)	R101Q	possibly damaging	Het
Kif20b	G	T	19: 34,918,721 (GRCm39)	V702F	probably benign	Het
Klhl1	A	G	14: 96,360,651 (GRCm39)		probably null	Het
Lrrk2	T	C	15: 91,618,249 (GRCm39)	V916A	probably benign	Het
Macir	A	T	1: 97,573,655 (GRCm39)	C137S	possibly damaging	Het
Mpp4	A	T	1: 59,160,535 (GRCm39)	D589E	probably damaging	Het
Msl2	T	C	9: 100,979,017 (GRCm39)	C464R	probably damaging	Het
Mucl2	A	T	15: 103,927,832 (GRCm39)	S42T	probably benign	Het
Musk	T	A	4: 58,373,613 (GRCm39)	L838Q	probably damaging	Het
Nos1	A	G	5: 118,074,510 (GRCm39)	H1052R	probably damaging	Het
Or10d4b	C	T	9: 39,534,479 (GRCm39)	T20I	probably damaging	Het
Or10v1	A	G	19: 11,874,293 (GRCm39)	R303G	probably benign	Het
Or1j20	T	A	2: 36,760,280 (GRCm39)	I234N	probably benign	Het
Or2at1	A	T	7: 99,416,596 (GRCm39)	I76F	probably damaging	Het
Or4d2	T	C	11: 87,784,049 (GRCm39)	R234G	possibly damaging	Het
Or52e15	C	A	7: 104,645,385 (GRCm39)	C242F	probably damaging	Het
Or56a5	G	A	7: 104,792,867 (GRCm39)	S211F	probably benign	Het
Or5w8	T	C	2: 87,687,585 (GRCm39)	V22A	probably benign	Het
Or8u8	T	A	2: 86,012,446 (GRCm39)	Q3L	probably benign	Het
Pard3	T	G	8: 128,115,819 (GRCm39)	L636R	probably damaging	Het
Pigr	A	T	1: 130,772,264 (GRCm39)	S161C	probably damaging	Het
Polr1e	T	C	4: 45,029,369 (GRCm39)	S325P	probably damaging	Het
Prrc2a	A	T	17: 35,369,060 (GRCm39)	V1992E	probably damaging	Het
Psma5-ps	T	C	10: 85,150,145 (GRCm39)		noncoding transcript	Het
Rab22a	A	G	2: 173,503,297 (GRCm39)	T37A	probably damaging	Het
Rai14	T	A	15: 10,575,245 (GRCm39)	K571I	probably damaging	Het
Reck	G	A	4: 43,930,979 (GRCm39)	G660D	probably damaging	Het
Rgs4	T	C	1: 169,572,807 (GRCm39)	D43G	possibly damaging	Het
Ryr2	A	T	13: 11,599,040 (GRCm39)	D4645E	probably damaging	Het
Sf3b3	A	G	8: 111,550,102 (GRCm39)	S639P	probably damaging	Het
Slc27a4	G	T	2: 29,701,672 (GRCm39)	R430L	probably damaging	Het
Slfn1	T	A	11: 83,012,770 (GRCm39)	Y295*	probably null	Het
Slfn5	C	T	11: 82,847,418 (GRCm39)	S101L	probably damaging	Het
Sult1d1	CCATG	CCATGGCATG	5: 87,707,629 (GRCm39)		probably null	Het
Tchh	A	T	3: 93,351,419 (GRCm39)	Q286H	unknown	Het
Tmem184c	A	T	8: 78,331,352 (GRCm39)	Y172*	probably null	Het
Tsc22d1	T	G	14: 76,656,266 (GRCm39)	M833R	possibly damaging	Het
Ugt1a7c	G	T	1: 88,023,601 (GRCm39)	L253F	probably damaging	Het
Usp19	C	T	9: 108,369,766 (GRCm39)		probably benign	Het
Xirp2	T	A	2: 67,355,148 (GRCm39)	I3303K	possibly damaging	Het
Zfp574	G	A	7: 24,779,757 (GRCm39)	A260T	probably benign	Het
Zswim6	A	G	13: 107,880,642 (GRCm39)		noncoding transcript	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
R2570:Ptpdc1	UTSW	13	48,739,539 (GRCm39)	missense	probably benign	0.02
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
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'- CTGACCATCTCGTGAACAGG -3'
(R):5'- AAGCCATCCTGGAACAAGGG -3'

Sequencing Primer
(F):5'- ATCTCGTGAACAGGGCCCG -3'
(R):5'- GGAGACACCTTGGACAGTGC -3'

Posted On

2017-02-28