Mutagenetix > Incidental Mutation

Incidental Mutation 'R9309:Ptpdc1'

705408

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 #

R9309 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

48577872-48625664 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48583131 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 721 (V721A)

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: V660A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000047374
Gene: ENSMUSG00000038042
AA Change: V660A

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: V721A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000223025

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.5%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	C	A	5: 87,972,473	P363Q	probably damaging	Het
4932415D10Rik	T	C	10: 82,295,152	T675A	probably benign	Het
Acy3	C	T	19: 3,988,451	R193W	probably damaging	Het
Adam11	C	T	11: 102,772,884	T296M	probably damaging	Het
Ak9	T	C	10: 41,316,368		probably null	Het
Angpt2	A	T	8: 18,699,156	M315K	probably damaging	Het
Bpifa6	A	T	2: 153,992,287	D333V	probably benign	Het
Brsk1	T	C	7: 4,706,119		probably null	Het
Btn2a2	T	A	13: 23,478,811	H323L	probably damaging	Het
Cct8	G	A	16: 87,485,704	A442V	probably damaging	Het
Cdc20b	T	C	13: 113,079,938	V317A	probably damaging	Het
Cfh	A	T	1: 140,154,511	S211T	probably damaging	Het
Chd9	G	A	8: 91,006,691	R1396H	unknown	Het
Cobll1	A	G	2: 65,125,927	V329A	probably damaging	Het
Cope	T	C	8: 70,302,832	V9A	unknown	Het
Ctnnb1	A	T	9: 120,955,438	Y432F	probably benign	Het
Ercc6	T	A	14: 32,518,947	C143S	probably damaging	Het
H2-M10.1	T	C	17: 36,325,633	E93G	probably benign	Het
Haao	T	C	17: 83,838,841	E68G	probably damaging	Het
Hbq1b	G	A	11: 32,287,408		probably null	Het
Itgb5	T	C	16: 33,920,046	Y509H	probably benign	Het
Klc4	T	C	17: 46,636,624	N384S	probably damaging	Het
Lemd2	A	T	17: 27,192,962	V452E	probably damaging	Het
Lrit2	C	A	14: 37,071,891	A304E	probably benign	Het
Lrrc7	C	T	3: 158,209,724	W218*	probably null	Het
Mrpl39	C	T	16: 84,735,183	R12Q	unknown	Het
Msln	A	G	17: 25,751,174	V269A	possibly damaging	Het
Nf1	T	G	11: 79,468,769	M1411R	possibly damaging	Het
Obscn	C	T	11: 59,052,511	E4271K	probably damaging	Het
Olfr112	A	G	17: 37,564,158	L51P	probably damaging	Het
Olfr186	A	G	16: 59,027,823	F28S	probably damaging	Het
Olfr844	A	G	9: 19,319,148	I211V	probably benign	Het
Optc	G	T	1: 133,897,944	S334R	probably benign	Het
Patl1	C	A	19: 11,935,718	R542S	probably damaging	Het
Pcdhb19	T	C	18: 37,498,805	V551A	probably damaging	Het
Pkhd1l1	G	A	15: 44,536,893	M2144I	probably benign	Het
Polr3a	T	G	14: 24,459,999	N956H	probably benign	Het
Prkdc	C	A	16: 15,708,928	C1354*	probably null	Het
Ptpro	G	A	6: 137,454,658	V1172M	probably damaging	Het
Reln	A	T	5: 21,971,868	N1933K	probably benign	Het
Rev1	A	G	1: 38,054,864	V1016A	probably damaging	Het
Ryr2	T	G	13: 11,706,692	K2618Q	probably damaging	Het
Tenm3	A	T	8: 48,298,937	M948K	probably damaging	Het
Tex48	G	T	4: 63,611,868	T38N	probably damaging	Het
Tom1l1	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTG	11: 90,649,822		probably benign	Het
Try10	G	T	6: 41,356,625	K101N	probably benign	Het
Ttc6	A	G	12: 57,706,863	Y1476C	possibly damaging	Het
Urb2	T	C	8: 124,028,070	V172A	probably damaging	Het
Wdfy4	C	T	14: 33,095,356	G1544R		Het
Zeb2	T	A	2: 45,002,563	E226V	probably damaging	Het
Zfp423	T	A	8: 87,783,060	I219F	probably damaging	Het
Zkscan1	A	G	5: 138,093,404	D133G	probably damaging	Het
Zscan4b	G	T	7: 10,901,929	T157K	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
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
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
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'- CACACAGAACTGGGGTGTAA -3'
(R):5'- CTAGTTCGGGTCCATACACCTC -3'

Sequencing Primer
(F):5'- GTGTAAAAGAAAAGAAAACCCCCTG -3'
(R):5'- AGTTCGGGTCCATACACCTCTTTTC -3'

Posted On

2022-03-25