Mutagenetix > Incidental Mutation

Incidental Mutation 'R9661:Ptpdc1'

727599

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 #

R9661 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

48731348-48779140 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48739610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 607 (N607I)

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: N546I

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000047374
Gene: ENSMUSG00000038042
AA Change: N546I

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: N607I

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000223025

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	A	5: 138,645,451 (GRCm39)	H445Q	possibly damaging	Het
Aadacl4	C	A	4: 144,340,287 (GRCm39)	P4Q	probably damaging	Het
Adgre1	A	G	17: 57,748,368 (GRCm39)	T523A	possibly damaging	Het
Arhgap32	A	G	9: 32,168,531 (GRCm39)	E838G	probably benign	Het
Atad5	G	T	11: 79,980,542 (GRCm39)		probably benign	Het
Card10	C	T	15: 78,683,318 (GRCm39)	R275H	probably damaging	Het
Cdh16	A	G	8: 105,345,612 (GRCm39)	V327A	probably benign	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Cttnbp2	T	A	6: 18,429,151 (GRCm39)	Q159L		Het
D630003M21Rik	A	G	2: 158,047,673 (GRCm39)	L732P	possibly damaging	Het
Dgcr8	T	C	16: 18,098,579 (GRCm39)	I308V	possibly damaging	Het
Dhx9	A	G	1: 153,340,393 (GRCm39)	F702L	probably damaging	Het
Dpy19l1	T	C	9: 24,386,730 (GRCm39)	Y188C	probably damaging	Het
Eea1	T	C	10: 95,862,742 (GRCm39)	L888S	probably benign	Het
Elmo1	T	C	13: 20,469,531 (GRCm39)		probably null	Het
Fam186a	T	A	15: 99,842,492 (GRCm39)	I1251F	possibly damaging	Het
Fer1l4	G	A	2: 155,862,336 (GRCm39)	A1779V	probably damaging	Het
Fgfrl1	C	T	5: 108,853,841 (GRCm39)	T407I	probably benign	Het
Gkn1	T	C	6: 87,325,173 (GRCm39)	K79E	probably damaging	Het
Gm11564	C	T	11: 99,706,247 (GRCm39)	R61H	unknown	Het
Gpr107	T	C	2: 31,057,075 (GRCm39)	F56L	probably benign	Het
H2-T22	T	C	17: 36,353,371 (GRCm39)		probably benign	Het
Hs1bp3	T	C	12: 8,367,940 (GRCm39)	V63A	probably damaging	Het
Htr6	A	G	4: 138,801,963 (GRCm39)	I37T	probably damaging	Het
Kifc5b	T	C	17: 27,140,836 (GRCm39)		probably null	Het
Lrfn2	T	C	17: 49,403,650 (GRCm39)	I591T	probably benign	Het
Lrrc49	A	T	9: 60,573,582 (GRCm39)	I300N	probably damaging	Het
Lyst	A	G	13: 13,808,779 (GRCm39)	T150A	probably benign	Het
Myh11	T	C	16: 14,041,857 (GRCm39)	Q722R		Het
Nek9	T	C	12: 85,361,253 (GRCm39)	Q484R	possibly damaging	Het
Nfs1	A	T	2: 155,970,473 (GRCm39)	V280E	probably damaging	Het
Notch3	T	A	17: 32,373,792 (GRCm39)	D472V	probably damaging	Het
Nt5c1b	T	C	12: 10,425,450 (GRCm39)	V273A	probably damaging	Het
Nudt12	T	C	17: 59,316,981 (GRCm39)	D222G	probably benign	Het
Nup98	G	A	7: 101,782,019 (GRCm39)	Q1204*	probably null	Het
Nwd2	A	T	5: 63,957,780 (GRCm39)	Y370F	probably damaging	Het
Oas3	A	T	5: 120,904,230 (GRCm39)	I548N	unknown	Het
Ogfr	A	T	2: 180,233,431 (GRCm39)	N78Y	probably damaging	Het
Or10ak11	A	T	4: 118,687,526 (GRCm39)	L36Q	probably benign	Het
Prkcq	A	T	2: 11,250,141 (GRCm39)	K153*	probably null	Het
Rab5c	G	T	11: 100,606,917 (GRCm39)	Q221K	probably benign	Het
Ret	G	A	6: 118,150,437 (GRCm39)	T693I	probably benign	Het
Rnf20	A	G	4: 49,654,556 (GRCm39)	E871G	probably damaging	Het
Rtl1	G	T	12: 109,557,346 (GRCm39)	P1498T	possibly damaging	Het
Septin9	C	G	11: 117,245,751 (GRCm39)	R458G	possibly damaging	Het
Sh2d2a	T	C	3: 87,756,788 (GRCm39)		probably null	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc16a4	T	A	3: 107,213,359 (GRCm39)	D451E	probably benign	Het
Slc36a3	A	G	11: 55,015,984 (GRCm39)	F390S	probably benign	Het
Slc4a2	T	A	5: 24,640,005 (GRCm39)	M576K	probably damaging	Het
Smim14	T	C	5: 65,610,533 (GRCm39)	H88R	possibly damaging	Het
Spata31e5	G	T	1: 28,816,536 (GRCm39)	H499N	probably benign	Het
Sspo	C	T	6: 48,455,272 (GRCm39)	Q3045*	probably null	Het
Supt7l	C	A	5: 31,680,403 (GRCm39)	R3M	probably damaging	Het
Tjap1	A	G	17: 46,571,092 (GRCm39)	W132R	probably damaging	Het
Tmem26	T	A	10: 68,559,838 (GRCm39)	W37R	probably damaging	Het
Tut7	T	C	13: 59,937,332 (GRCm39)	D1155G	probably damaging	Het
Vmn1r119	C	T	7: 20,746,224 (GRCm39)	V53M	possibly damaging	Het
Vmn2r54	A	T	7: 12,349,166 (GRCm39)	N805K	probably benign	Het
Zfp638	T	C	6: 83,923,320 (GRCm39)	V706A	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- ACAGAAGCCCACATGTGTTTAAAC -3'
(R):5'- CAGAACCTTCTCTGTGGGTG -3'

Sequencing Primer
(F):5'- GCCCACATGTGTTTAAACAAAATAC -3'
(R):5'- GTTTCTTGTTCACACAATCCTGGAG -3'

Posted On

2022-10-06