Mutagenetix > Incidental Mutation

Incidental Mutation 'R1605:Ptpn14'

176377

Institutional Source

Beutler Lab

Gene Symbol

Ptpn14

Ensembl Gene

ENSMUSG00000026604

Gene Name

protein tyrosine phosphatase, non-receptor type 14

Synonyms

C130080N23Rik, OTTMUSG00000022087, PTP36

MMRRC Submission

039642-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1605 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

189460465-189608892 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 189597709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1140 (I1140V)

Ref Sequence

ENSEMBL: ENSMUSP00000095051 (fasta)

Gene Model

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

AlphaFold

Q62130

Predicted Effect

probably benign
Transcript: ENSMUST00000027898
AA Change: I800V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000027898
Gene: ENSMUSG00000026604
AA Change: I800V

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
AA Change: I1140V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000095051
Gene: ENSMUSG00000026604
AA Change: I1140V

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: ENSMUST00000148129

Meta Mutation Damage Score

0.1118

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

99% (75/76)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730409E04Rik	A	G	4: 126,506,104 (GRCm39)	K211E	probably damaging	Het
Acot7	A	G	4: 152,291,285 (GRCm39)	I84V	possibly damaging	Het
Ankrd44	A	G	1: 54,867,781 (GRCm39)	V34A	probably benign	Het
Atp4b	A	T	8: 13,443,489 (GRCm39)	M63K	probably damaging	Het
Atr	T	A	9: 95,818,516 (GRCm39)	I2163K	probably damaging	Het
Azgp1	A	T	5: 137,983,426 (GRCm39)	R34*	probably null	Het
Ccdc152	T	G	15: 3,327,603 (GRCm39)	K58T	probably damaging	Het
Ccdc88b	T	A	19: 6,827,837 (GRCm39)	Q912L	probably benign	Het
Cdc42ep5	T	A	7: 4,154,395 (GRCm39)	H131L	probably benign	Het
Chd7	G	A	4: 8,844,675 (GRCm39)	E1595K	probably damaging	Het
Col11a1	G	A	3: 113,925,290 (GRCm39)	G41D	probably damaging	Het
Cyp2b23	C	T	7: 26,385,843 (GRCm39)	V5I	probably benign	Het
D430041D05Rik	A	G	2: 104,085,915 (GRCm39)	V22A	possibly damaging	Het
Ddi1	T	C	9: 6,266,012 (GRCm39)	Y119C	probably benign	Het
Dysf	T	C	6: 84,083,923 (GRCm39)	L785P	probably damaging	Het
Eqtn	T	A	4: 94,816,587 (GRCm39)	T69S	possibly damaging	Het
F11	T	A	8: 45,694,617 (GRCm39)	K581N	probably damaging	Het
Gli2	G	A	1: 118,782,290 (GRCm39)	P172S	probably damaging	Het
Gm7579	G	T	7: 141,765,603 (GRCm39)	C3F	unknown	Het
Grin2a	A	G	16: 9,481,194 (GRCm39)	V501A	possibly damaging	Het
Grk4	G	A	5: 34,831,901 (GRCm39)	D57N	probably damaging	Het
Gsdma	A	T	11: 98,557,319 (GRCm39)	D86V	probably damaging	Het
Gsx1	A	G	5: 147,126,738 (GRCm39)	E187G	probably damaging	Het
Hdac1-ps	A	G	17: 78,799,537 (GRCm39)	D176G	probably damaging	Het
Inpp5k	T	A	11: 75,524,307 (GRCm39)	F75L	probably benign	Het
Itpr1	T	C	6: 108,326,620 (GRCm39)	V114A	possibly damaging	Het
Izumo3	A	T	4: 92,032,977 (GRCm39)	C130S	probably damaging	Het
Mei4	G	A	9: 81,809,639 (GRCm39)	E241K	possibly damaging	Het
Mocs2	T	C	13: 114,961,120 (GRCm39)	V39A	probably benign	Het
Mroh2b	G	A	15: 4,974,572 (GRCm39)	R1184H	probably benign	Het
Msh3	T	C	13: 92,436,783 (GRCm39)	Q509R	probably null	Het
Myh8	T	C	11: 67,192,497 (GRCm39)	W1459R	probably damaging	Het
Mypop	T	A	7: 18,734,918 (GRCm39)		probably benign	Het
Ndc1	C	A	4: 107,225,293 (GRCm39)	T3K	probably damaging	Het
Nf1	A	C	11: 79,331,749 (GRCm39)	M695L	probably benign	Het
Nup50l	A	G	6: 96,141,793 (GRCm39)	M417T	probably benign	Het
Nutm2	C	A	13: 50,623,955 (GRCm39)	D217E	possibly damaging	Het
Or52a20	T	C	7: 103,365,858 (GRCm39)	I19T	probably damaging	Het
Or5b122	A	G	19: 13,562,994 (GRCm39)	T109A	probably benign	Het
Pde6c	C	A	19: 38,129,940 (GRCm39)	D283E	probably damaging	Het
Phldb2	A	G	16: 45,591,142 (GRCm39)		probably benign	Het
Pigt	G	C	2: 164,349,419 (GRCm39)	R574P	probably damaging	Het
Pkd1	T	C	17: 24,796,500 (GRCm39)	I2354T	possibly damaging	Het
Prdm15	T	C	16: 97,640,506 (GRCm39)	E27G	probably damaging	Het
Rdx	T	C	9: 51,974,891 (GRCm39)	V9A	probably damaging	Het
Rfx7	T	C	9: 72,519,071 (GRCm39)	S258P	probably damaging	Het
Rnf17	G	T	14: 56,730,822 (GRCm39)	G1209C	probably damaging	Het
S1pr4	C	T	10: 81,335,225 (GRCm39)		probably null	Het
Scml2	G	T	X: 160,014,442 (GRCm39)	E566D	possibly damaging	Het
Serpinb1b	T	A	13: 33,277,646 (GRCm39)	V293E	possibly damaging	Het
Serpinb9b	T	C	13: 33,222,112 (GRCm39)		probably null	Het
Sez6l	A	C	5: 112,622,915 (GRCm39)	I212S	probably damaging	Het
Son	T	C	16: 91,454,552 (GRCm39)	S1100P	probably damaging	Het
Spag9	G	A	11: 93,939,365 (GRCm39)	R98H	probably damaging	Het
Spata31e2	A	T	1: 26,723,511 (GRCm39)	H556Q	possibly damaging	Het
St3gal5	T	C	6: 72,119,272 (GRCm39)	L128P	probably benign	Het
Stra6	A	T	9: 58,059,166 (GRCm39)	M510L	probably benign	Het
Stxbp5l	A	G	16: 37,028,473 (GRCm39)	V530A	probably benign	Het
Tatdn1	A	G	15: 58,793,039 (GRCm39)		probably benign	Het
Tbc1d8	A	G	1: 39,430,206 (GRCm39)	S466P	probably benign	Het
Tmem199	A	T	11: 78,399,152 (GRCm39)	M175K	possibly damaging	Het
Trmt12	A	G	15: 58,744,764 (GRCm39)	E54G	probably benign	Het
Usp37	G	T	1: 74,532,163 (GRCm39)	Q77K	possibly damaging	Het
Vezf1	A	G	11: 87,967,125 (GRCm39)	I301V	possibly damaging	Het
Vmn1r34	T	G	6: 66,613,932 (GRCm39)	M269L	probably benign	Het
Wdr93	C	A	7: 79,421,257 (GRCm39)		probably null	Het
Wnk2	T	C	13: 49,214,370 (GRCm39)	D644G	probably damaging	Het
Zc3h13	C	T	14: 75,574,923 (GRCm39)	R1591*	probably null	Het
Zfp131	G	A	13: 120,230,316 (GRCm39)	L371F	probably damaging	Het
Zfp180	T	A	7: 23,804,049 (GRCm39)	V156D	probably benign	Het
Zfp646	G	T	7: 127,479,359 (GRCm39)		probably null	Het
Zscan12	C	A	13: 21,550,813 (GRCm39)	T144K	probably benign	Het

Other mutations in Ptpn14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01014:Ptpn14	APN	1	189,554,830 (GRCm39)	missense	probably damaging	1.00
IGL02501:Ptpn14	APN	1	189,582,587 (GRCm39)	missense	probably benign	0.14
IGL03011:Ptpn14	APN	1	189,571,754 (GRCm39)	missense	probably damaging	1.00
jelly	UTSW	1	189,554,872 (GRCm39)	nonsense	probably null
Rubens	UTSW	1	189,564,997 (GRCm39)	critical splice donor site	probably null
R0724:Ptpn14	UTSW	1	189,583,144 (GRCm39)	missense	possibly damaging	0.52
R0791:Ptpn14	UTSW	1	189,568,637 (GRCm39)	splice site	probably benign
R1363:Ptpn14	UTSW	1	189,530,825 (GRCm39)	missense	probably damaging	1.00
R1840:Ptpn14	UTSW	1	189,519,048 (GRCm39)	missense	probably damaging	1.00
R1845:Ptpn14	UTSW	1	189,571,699 (GRCm39)	missense	possibly damaging	0.96
R1891:Ptpn14	UTSW	1	189,530,850 (GRCm39)	missense	probably damaging	1.00
R2187:Ptpn14	UTSW	1	189,595,425 (GRCm39)	nonsense	probably null
R2288:Ptpn14	UTSW	1	189,597,695 (GRCm39)	missense	probably damaging	1.00
R3686:Ptpn14	UTSW	1	189,583,596 (GRCm39)	missense	probably damaging	1.00
R3895:Ptpn14	UTSW	1	189,582,743 (GRCm39)	missense	probably benign	0.31
R3898:Ptpn14	UTSW	1	189,582,728 (GRCm39)	missense	probably benign	0.35
R4004:Ptpn14	UTSW	1	189,582,707 (GRCm39)	missense	probably benign	0.00
R4816:Ptpn14	UTSW	1	189,588,997 (GRCm39)	missense	probably damaging	1.00
R4883:Ptpn14	UTSW	1	189,582,997 (GRCm39)	missense	probably damaging	0.99
R4928:Ptpn14	UTSW	1	189,554,839 (GRCm39)	missense	probably damaging	1.00
R4931:Ptpn14	UTSW	1	189,583,474 (GRCm39)	missense	probably benign
R4957:Ptpn14	UTSW	1	189,583,469 (GRCm39)	missense	probably benign	0.02
R5009:Ptpn14	UTSW	1	189,582,731 (GRCm39)	missense	probably benign
R5038:Ptpn14	UTSW	1	189,519,083 (GRCm39)	missense	probably damaging	1.00
R5264:Ptpn14	UTSW	1	189,564,997 (GRCm39)	critical splice donor site	probably null
R5373:Ptpn14	UTSW	1	189,583,160 (GRCm39)	missense	probably benign
R5441:Ptpn14	UTSW	1	189,530,767 (GRCm39)	missense	probably damaging	1.00
R5540:Ptpn14	UTSW	1	189,578,561 (GRCm39)	missense	probably benign	0.05
R5638:Ptpn14	UTSW	1	189,519,038 (GRCm39)	missense	probably damaging	1.00
R5746:Ptpn14	UTSW	1	189,578,610 (GRCm39)	critical splice donor site	probably null
R5872:Ptpn14	UTSW	1	189,583,229 (GRCm39)	missense	probably benign	0.00
R5988:Ptpn14	UTSW	1	189,582,584 (GRCm39)	missense	probably damaging	1.00
R6139:Ptpn14	UTSW	1	189,583,362 (GRCm39)	missense	probably benign	0.01
R6295:Ptpn14	UTSW	1	189,582,997 (GRCm39)	missense	probably damaging	0.99
R6770:Ptpn14	UTSW	1	189,564,970 (GRCm39)	missense	probably damaging	1.00
R7097:Ptpn14	UTSW	1	189,595,595 (GRCm39)	nonsense	probably null
R7320:Ptpn14	UTSW	1	189,564,956 (GRCm39)	missense	probably benign	0.11
R7324:Ptpn14	UTSW	1	189,595,621 (GRCm39)	missense	possibly damaging	0.46
R7599:Ptpn14	UTSW	1	189,582,942 (GRCm39)	missense	probably benign	0.39
R7699:Ptpn14	UTSW	1	189,597,608 (GRCm39)	missense	probably benign	0.08
R7700:Ptpn14	UTSW	1	189,597,608 (GRCm39)	missense	probably benign	0.08
R8379:Ptpn14	UTSW	1	189,565,598 (GRCm39)	missense	possibly damaging	0.95
R8889:Ptpn14	UTSW	1	189,554,872 (GRCm39)	nonsense	probably null
R9659:Ptpn14	UTSW	1	189,587,174 (GRCm39)	missense	probably benign	0.00
R9719:Ptpn14	UTSW	1	189,583,484 (GRCm39)	missense	probably benign	0.00
Z1177:Ptpn14	UTSW	1	189,592,667 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCAGTTACCAGCCAAATGATTAGCG -3'
(R):5'- CCTACACACAGCAGTGAGCAGTAAG -3'

Sequencing Primer
(F):5'- CAAAGACATGTGACACACTTGG -3'
(R):5'- tgggaggtggaacaggag -3'

Posted On

2014-04-24