Mutagenetix > Incidental Mutation

Incidental Mutation 'R7719:Ptpdc1'

595138

Institutional Source

Beutler Lab

Gene Symbol

Ptpdc1

Ensembl Gene

ENSMUSG00000038042

Gene Name

protein tyrosine phosphatase domain containing 1

Synonyms

MMRRC Submission

045776-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7719 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48731348-48779140 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48739766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 555 (V555A)

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: V494A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000047374
Gene: ENSMUSG00000038042
AA Change: V494A

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: V555A

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000223025

Coding Region Coverage

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

Validation Efficiency

99% (67/68)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd6	T	A	1: 155,562,758 (GRCm39)	L253H	probably damaging	Het
Adam11	T	C	11: 102,663,303 (GRCm39)	V238A	probably benign	Het
Amer3	A	T	1: 34,628,083 (GRCm39)	H774L	possibly damaging	Het
Anapc15	T	C	7: 101,550,236 (GRCm39)	L150P	unknown	Het
Ano8	G	T	8: 71,935,784 (GRCm39)	T278K	possibly damaging	Het
Atg16l2	T	C	7: 100,939,074 (GRCm39)	K618E	probably damaging	Het
Casz1	C	T	4: 149,028,981 (GRCm39)	S1142L	probably damaging	Het
Ccdc30	T	A	4: 119,190,813 (GRCm39)	E471D	probably damaging	Het
Cks1b	T	C	3: 89,323,635 (GRCm39)	N45D	probably benign	Het
Clasrp	T	C	7: 19,321,769 (GRCm39)	T296A	probably damaging	Het
Cluap1	C	T	16: 3,727,467 (GRCm39)		probably null	Het
Cntn5	T	A	9: 9,704,903 (GRCm39)	D632V	probably damaging	Het
Cntnap3	G	A	13: 64,920,591 (GRCm39)	Q593*	probably null	Het
Col18a1	A	T	10: 76,913,846 (GRCm39)	I457K	probably benign	Het
Crybb3	G	T	5: 113,223,834 (GRCm39)	Q192K	probably damaging	Het
Cyb561d2	C	T	9: 107,417,383 (GRCm39)	A123T	probably benign	Het
Cyp2b13	C	T	7: 25,795,095 (GRCm39)	A442V	probably damaging	Het
Cyp2j9	G	A	4: 96,457,079 (GRCm39)	T464I	probably benign	Het
Cyp4a29	G	A	4: 115,108,137 (GRCm39)	G320R	possibly damaging	Het
Dbp	T	C	7: 45,359,174 (GRCm39)	I283T	probably damaging	Het
Efcab3	T	C	11: 105,002,674 (GRCm39)	I303T	probably benign	Het
Efcab8	T	A	2: 153,629,665 (GRCm39)	V166D		Het
Efhc1	A	T	1: 21,049,744 (GRCm39)	I535F	probably benign	Het
Epb41l3	A	G	17: 69,560,409 (GRCm39)	I319V	possibly damaging	Het
Ewsr1	T	C	11: 5,035,900 (GRCm39)	T193A	unknown	Het
Fam227a	T	C	15: 79,504,913 (GRCm39)	N510S	possibly damaging	Het
Frmpd1	T	C	4: 45,284,841 (GRCm39)	C1221R	possibly damaging	Het
Gm6741	A	C	17: 91,544,472 (GRCm39)	E78D	probably benign	Het
Gpam	C	T	19: 55,070,102 (GRCm39)	V385I	probably damaging	Het
Gpr55	A	G	1: 85,869,059 (GRCm39)	V174A	probably benign	Het
Gsdmc	T	C	15: 63,650,813 (GRCm39)		probably null	Het
Hmcn1	T	A	1: 150,441,080 (GRCm39)	D5509V	possibly damaging	Het
Hoxc13	A	T	15: 102,830,293 (GRCm39)	Q224L	possibly damaging	Het
Hunk	A	G	16: 90,293,554 (GRCm39)	D612G	probably benign	Het
Igsf3	G	A	3: 101,342,857 (GRCm39)	R478H	probably damaging	Het
Itgb5	A	G	16: 33,740,486 (GRCm39)	Q532R	probably benign	Het
Jph1	T	C	1: 17,162,215 (GRCm39)	Y149C	probably damaging	Het
Lztfl1	T	C	9: 123,544,395 (GRCm39)	D33G	probably null	Het
Mex3c	G	T	18: 73,723,061 (GRCm39)	A385S	possibly damaging	Het
Myo5a	T	A	9: 75,051,366 (GRCm39)	S320T	probably benign	Het
Nsun4	A	T	4: 115,909,617 (GRCm39)	N314K	possibly damaging	Het
Omg	T	A	11: 79,393,059 (GRCm39)	E266D	probably benign	Het
Or4b12	A	T	2: 90,096,603 (GRCm39)	M57K	probably damaging	Het
Paqr9	T	A	9: 95,442,829 (GRCm39)	V273E	possibly damaging	Het
Phkg1	G	A	5: 129,902,699 (GRCm39)		probably benign	Het
Plekhm3	T	C	1: 64,960,901 (GRCm39)	K452E	probably benign	Het
Plpbp	T	A	8: 27,535,974 (GRCm39)	I86N		Het
Prl2c1	G	T	13: 28,035,780 (GRCm39)	A51S	probably damaging	Het
Prmt8	A	T	6: 127,706,466 (GRCm39)	H108Q	probably damaging	Het
Prrc2b	T	A	2: 32,107,280 (GRCm39)	C1614*	probably null	Het
Rassf9	A	G	10: 102,381,461 (GRCm39)	D281G	probably benign	Het
Resf1	T	C	6: 149,228,853 (GRCm39)	I633T	probably benign	Het
Rmnd1	T	C	10: 4,377,496 (GRCm39)	D61G	probably benign	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,745,229 (GRCm39)	S2055P	possibly damaging	Het
Six5	G	A	7: 18,830,803 (GRCm39)	A477T	probably damaging	Het
Speg	A	G	1: 75,352,469 (GRCm39)	E129G	probably damaging	Het
Stard10	C	T	7: 100,995,320 (GRCm39)	A78V	not run	Het
Stard3	T	C	11: 98,266,502 (GRCm39)	V127A	probably benign	Het
Svep1	G	A	4: 58,068,523 (GRCm39)	P3088S	probably damaging	Het
Tbck	A	G	3: 132,440,489 (GRCm39)	D508G	probably damaging	Het
Tgm2	T	A	2: 157,985,038 (GRCm39)	T23S	probably damaging	Het
Ttll10	G	T	4: 156,131,665 (GRCm39)		probably null	Het
Vcan	A	T	13: 89,852,738 (GRCm39)	S741T	probably damaging	Het
Vmn2r13	T	C	5: 109,319,618 (GRCm39)	N454S	probably benign	Het
Vmn2r45	T	A	7: 8,486,460 (GRCm39)	E276V	probably damaging	Het
Wnt8a	T	C	18: 34,680,588 (GRCm39)	W318R	probably damaging	Het
Zer1	A	T	2: 30,001,243 (GRCm39)	L87H	probably damaging	Het
Zfp518a	T	A	19: 40,901,212 (GRCm39)	N380K	probably benign	Het
Zfp90	T	C	8: 107,145,725 (GRCm39)	V19A	probably damaging	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	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
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'- ACTCAGTTCAGGCTGCAGAC -3'
(R):5'- TTGCTACATGCCACCAACTC -3'

Sequencing Primer
(F):5'- AACTGCGCCTTAGGACTGGAG -3'
(R):5'- CCAGAGCTGGGTTTTAATAAGGAG -3'

Posted On

2019-11-12