Mutagenetix > Incidental Mutations

Incidental Mutation 'R0791:Ptpn14'

82380

Institutional Source

Beutler Lab

Gene Symbol

Ptpn14

Ensembl Gene

ENSMUSG00000026604

Gene Name

protein tyrosine phosphatase, non-receptor type 14

Synonyms

C130080N23Rik, PTP36, OTTMUSG00000022087

MMRRC Submission

038971-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0791 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

189728268-189876695 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 189836440 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000095051 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027898] [ENSMUST00000097442]

Predicted Effect

probably benign
Transcript: ENSMUST00000027898

SMART Domains

Protein: ENSMUSP00000027898
Gene: ENSMUSG00000026604

Domain	Start	End	E-Value	Type
B41	17	220	3.7e-67	SMART
FERM_C	224	310	3.43e-15	SMART
low complexity region	565	575	N/A	INTRINSIC
low complexity region	633	639	N/A	INTRINSIC
low complexity region	710	718	N/A	INTRINSIC
low complexity region	745	758	N/A	INTRINSIC
low complexity region	817	834	N/A	INTRINSIC
PTPc	910	1184	2.14e-103	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000097442

SMART Domains

Protein: ENSMUSP00000095051
Gene: ENSMUSG00000026604

Domain	Start	End	E-Value	Type
B41	17	220	3.7e-67	SMART
FERM_C	224	310	3.43e-15	SMART
low complexity region	565	575	N/A	INTRINSIC
low complexity region	633	639	N/A	INTRINSIC
low complexity region	710	718	N/A	INTRINSIC
low complexity region	745	758	N/A	INTRINSIC
low complexity region	817	834	N/A	INTRINSIC
PTPc	910	1184	2.14e-103	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128275

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181876

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194127

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.8%

Validation Efficiency

98% (59/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal noncatalytic domain similar to that of band 4.1 superfamily cytoskeleton-associated proteins, which suggested the membrane or cytoskeleton localization of this protein. It appears to regulate lymphatic development in mammals, and a loss of function mutation has been found in a kindred with a lymphedema-choanal atresia. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit some postnatal growth retardation, decreased body weight, periorbital and limb edema, and lymphatic vessel hyperplasia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130011E15Rik	A	T	19: 45,933,868		probably null	Het
Ahnak	G	A	19: 9,016,734	M5127I	probably benign	Het
Akr1c13	T	C	13: 4,194,112	Y55H	probably damaging	Het
Atp2b2	C	T	6: 113,773,388	R625H	probably damaging	Het
Bpifb2	T	C	2: 153,878,519	V66A	probably benign	Het
Ccdc33	T	C	9: 58,028,763	T950A	possibly damaging	Het
Ceacam19	A	T	7: 19,882,632		probably null	Het
Cenpn	T	A	8: 116,940,820		probably benign	Het
Ces1f	A	T	8: 93,271,889	Y160N	possibly damaging	Het
Clca1	A	C	3: 145,004,854	S863A	probably benign	Het
Cntrl	T	A	2: 35,155,279	I781K	possibly damaging	Het
Dock4	C	T	12: 40,704,481	R490W	probably damaging	Het
Evpl	T	A	11: 116,227,723	Q686L	probably damaging	Het
Fbxw10	A	G	11: 62,847,456	S59G	probably benign	Het
Glb1l2	A	G	9: 26,769,751	V218A	possibly damaging	Het
Gpatch1	A	T	7: 35,281,376		probably benign	Het
Grin2c	G	A	11: 115,250,646	P882L	probably damaging	Het
H2-Ob	C	A	17: 34,242,614	T109N	probably damaging	Het
Ipo8	A	G	6: 148,821,727	V64A	possibly damaging	Het
Jpt2	C	A	17: 24,948,673	A101S	probably benign	Het
Lamc1	C	A	1: 153,234,580	Q1116H	possibly damaging	Het
Lamc1	T	G	1: 153,234,595	Q1111H	probably damaging	Het
Lamc1	T	C	1: 153,234,612	S1106G	probably benign	Het
Large1	A	G	8: 73,048,479		probably benign	Het
Lig4	A	T	8: 9,973,012	V256E	possibly damaging	Het
Mpz	C	A	1: 171,158,774	Q86K	possibly damaging	Het
Mrps24	A	G	11: 5,704,684	V90A	possibly damaging	Het
Mtdh	A	G	15: 34,116,382		probably benign	Het
Mtor	T	C	4: 148,462,910	V450A	probably benign	Het
Mycbpap	A	G	11: 94,511,623		probably null	Het
Myo6	T	A	9: 80,262,374		probably benign	Het
Myom1	A	T	17: 71,121,136	I1450F	probably damaging	Het
Nbas	T	A	12: 13,482,633	S1781T	probably benign	Het
Nedd1	T	C	10: 92,719,614	E3G	probably damaging	Het
Nt5c3	T	C	6: 56,886,749	T149A	probably benign	Het
Olfr477	A	G	7: 107,990,533	H56R	probably benign	Het
Osbp2	G	A	11: 3,711,882		probably benign	Het
Paip1	T	C	13: 119,430,318	S54P	possibly damaging	Het
Pole2	G	A	12: 69,207,929	L381F	probably benign	Het
Prdm14	G	T	1: 13,125,744	A31E	probably benign	Het
Rims2	A	G	15: 39,679,625		probably benign	Het
Rnf20	A	G	4: 49,638,197	N103S	possibly damaging	Het
Sema3g	T	A	14: 31,220,904		probably benign	Het
Slc30a6	T	C	17: 74,415,645	S236P	possibly damaging	Het
Slc5a1	T	C	5: 33,158,077		probably benign	Het
Snx25	A	T	8: 46,124,082	M1K	probably null	Het
Synpo2	A	G	3: 123,113,186	V827A	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trak2	A	T	1: 58,903,661	M862K	probably benign	Het
Trim42	A	T	9: 97,365,679	H321Q	probably damaging	Het
Twnk	T	C	19: 45,010,254		probably benign	Het
Tymp	T	C	15: 89,374,818	K221R	probably damaging	Het
Uaca	C	A	9: 60,872,059	Q1243K	possibly damaging	Het
Vwa8	T	C	14: 78,994,576		probably benign	Het
Wnt4	C	T	4: 137,289,283	R83W	probably damaging	Het
Zfp820	T	C	17: 21,819,528	D273G	probably benign	Het
Zfp974	A	T	7: 27,910,085	Y738*	probably null	Het
Zkscan4	A	C	13: 21,483,911	E177D	probably benign	Het

Other mutations in Ptpn14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01014:Ptpn14	APN	1	189822633	missense	probably damaging	1.00
IGL02501:Ptpn14	APN	1	189850390	missense	probably benign	0.14
IGL03011:Ptpn14	APN	1	189839557	missense	probably damaging	1.00
R0724:Ptpn14	UTSW	1	189850947	missense	possibly damaging	0.52
R1363:Ptpn14	UTSW	1	189798628	missense	probably damaging	1.00
R1605:Ptpn14	UTSW	1	189865512	missense	probably benign	0.00
R1840:Ptpn14	UTSW	1	189786851	missense	probably damaging	1.00
R1845:Ptpn14	UTSW	1	189839502	missense	possibly damaging	0.96
R1891:Ptpn14	UTSW	1	189798653	missense	probably damaging	1.00
R2187:Ptpn14	UTSW	1	189863228	nonsense	probably null
R2288:Ptpn14	UTSW	1	189865498	missense	probably damaging	1.00
R3686:Ptpn14	UTSW	1	189851399	missense	probably damaging	1.00
R3895:Ptpn14	UTSW	1	189850546	missense	probably benign	0.31
R3898:Ptpn14	UTSW	1	189850531	missense	probably benign	0.35
R4004:Ptpn14	UTSW	1	189850510	missense	probably benign	0.00
R4816:Ptpn14	UTSW	1	189856800	missense	probably damaging	1.00
R4883:Ptpn14	UTSW	1	189850800	missense	probably damaging	0.99
R4928:Ptpn14	UTSW	1	189822642	missense	probably damaging	1.00
R4931:Ptpn14	UTSW	1	189851277	missense	probably benign
R4957:Ptpn14	UTSW	1	189851272	missense	probably benign	0.02
R5009:Ptpn14	UTSW	1	189850534	missense	probably benign
R5038:Ptpn14	UTSW	1	189786886	missense	probably damaging	1.00
R5264:Ptpn14	UTSW	1	189832800	critical splice donor site	probably null
R5373:Ptpn14	UTSW	1	189850963	missense	probably benign
R5441:Ptpn14	UTSW	1	189798570	missense	probably damaging	1.00
R5540:Ptpn14	UTSW	1	189846364	missense	probably benign	0.05
R5638:Ptpn14	UTSW	1	189786841	missense	probably damaging	1.00
R5746:Ptpn14	UTSW	1	189846413	critical splice donor site	probably null
R5872:Ptpn14	UTSW	1	189851032	missense	probably benign	0.00
R5988:Ptpn14	UTSW	1	189850387	missense	probably damaging	1.00
R6139:Ptpn14	UTSW	1	189851165	missense	probably benign	0.01
R6295:Ptpn14	UTSW	1	189850800	missense	probably damaging	0.99
R6770:Ptpn14	UTSW	1	189832773	missense	probably damaging	1.00
R7097:Ptpn14	UTSW	1	189863398	nonsense	probably null
R7320:Ptpn14	UTSW	1	189832759	missense	probably benign	0.11
R7324:Ptpn14	UTSW	1	189863424	missense	possibly damaging	0.46
R7599:Ptpn14	UTSW	1	189850745	missense	probably benign	0.39
R7699:Ptpn14	UTSW	1	189865411	missense	probably benign	0.08
R7700:Ptpn14	UTSW	1	189865411	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- TCCCCTGACACATGCCAGAGTATC -3'
(R):5'- GTGAGCCACCAGAAAGAGCACTATC -3'

Sequencing Primer
(F):5'- CATGCCAGAGTATCTGGTTTCAAG -3'
(R):5'- GAAAGAGCACTATCGGTTTTTCCC -3'

Posted On

2013-11-08