Mutagenetix > Incidental Mutation

Incidental Mutation 'R8889:Ptpn14'

677533

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

068693-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8889 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

189460465-189608892 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 189554872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 144 (L144*)

Ref Sequence

ENSEMBL: ENSMUSP00000027898 (fasta)

Gene Model

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

AlphaFold

Q62130

Predicted Effect

probably null
Transcript: ENSMUST00000027898
AA Change: L144*

SMART Domains

Protein: ENSMUSP00000027898
Gene: ENSMUSG00000026604
AA Change: L144*

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 null
Transcript: ENSMUST00000097442
AA Change: L144*

SMART Domains

Protein: ENSMUSP00000095051
Gene: ENSMUSG00000026604
AA Change: L144*

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (78/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	A	7: 119,815,606 (GRCm39)	L285I	probably damaging	Het
Abcc2	T	G	19: 43,795,571 (GRCm39)	S442R	possibly damaging	Het
Adgrl3	A	T	5: 81,874,516 (GRCm39)	I938F	probably damaging	Het
Ank1	T	C	8: 23,606,990 (GRCm39)	L1297P	probably damaging	Het
Ap3b1	G	A	13: 94,679,348 (GRCm39)	V997M	unknown	Het
Ash2l	T	C	8: 26,313,247 (GRCm39)	K413R	probably benign	Het
Cacnb1	A	T	11: 97,901,192 (GRCm39)	V220E	probably damaging	Het
Cacul1	A	T	19: 60,568,960 (GRCm39)	L66Q	probably damaging	Het
Camkv	C	T	9: 107,823,333 (GRCm39)	R120*	probably null	Het
Ccny	T	G	18: 9,345,235 (GRCm39)	S180R	probably damaging	Het
Cdh23	G	T	10: 60,143,284 (GRCm39)	H3012Q	probably damaging	Het
Clasp2	T	A	9: 113,709,251 (GRCm39)	L680Q	probably damaging	Het
Clip1	A	T	5: 123,717,565 (GRCm39)	S1241R	probably benign	Het
Cthrc1	T	A	15: 38,940,445 (GRCm39)	L16H	probably damaging	Het
Ctnna1	G	A	18: 35,372,586 (GRCm39)	V514I	possibly damaging	Het
Ddr1	A	C	17: 35,993,556 (GRCm39)	I852S	probably benign	Het
Echs1	A	C	7: 139,688,031 (GRCm39)	L258R	probably damaging	Het
Epha8	G	T	4: 136,661,850 (GRCm39)	H582N	probably benign	Het
Exph5	G	T	9: 53,287,955 (GRCm39)	G1679W	probably damaging	Het
Fhod3	G	A	18: 25,189,452 (GRCm39)		probably null	Het
Gm10803	G	A	2: 93,394,281 (GRCm39)	D18N	unknown	Het
Gpr152	T	A	19: 4,192,723 (GRCm39)	I88N	probably damaging	Het
Gpr179	T	C	11: 97,226,590 (GRCm39)	D1855G	possibly damaging	Het
H2al2a	T	A	2: 18,001,599 (GRCm39)	D29V	probably damaging	Het
Hnrnpf	T	G	6: 117,901,753 (GRCm39)	S346A	probably benign	Het
Hsd11b2	C	T	8: 106,249,263 (GRCm39)	R213C	probably damaging	Het
Il17rd	A	G	14: 26,821,930 (GRCm39)	D552G	possibly damaging	Het
Ipo9	T	C	1: 135,314,544 (GRCm39)	N904S	possibly damaging	Het
Klhl14	T	G	18: 21,691,220 (GRCm39)	T437P	possibly damaging	Het
Krt5	T	C	15: 101,619,185 (GRCm39)	M268V	probably benign	Het
Lhx4	T	C	1: 155,581,013 (GRCm39)	T171A	possibly damaging	Het
Ltn1	A	T	16: 87,229,230 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,249,036 (GRCm39)	L7165P	probably damaging	Het
Micall2	T	A	5: 139,703,254 (GRCm39)	H194L	probably damaging	Het
Mmp16	T	A	4: 18,051,820 (GRCm39)	Y270N	probably damaging	Het
Nme6	T	G	9: 109,668,706 (GRCm39)	F41V	probably damaging	Het
Npffr1	A	G	10: 61,449,939 (GRCm39)	N71S	possibly damaging	Het
Or1p4-ps1	T	C	11: 74,207,949 (GRCm39)	W33R	probably damaging	Het
Or4k41	A	G	2: 111,279,967 (GRCm39)	I161V	probably benign	Het
Pard3b	T	A	1: 62,677,026 (GRCm39)	Y1186N	probably damaging	Het
Pate5	T	A	9: 35,750,682 (GRCm39)	T47S	probably damaging	Het
Pcca	A	G	14: 122,795,123 (GRCm39)		probably benign	Het
Plekha8	A	G	6: 54,592,540 (GRCm39)		probably benign	Het
Rad52	C	T	6: 119,890,041 (GRCm39)	R56C	probably damaging	Het
Rdx	C	T	9: 51,997,753 (GRCm39)	R576C	probably damaging	Het
Rnf135	C	T	11: 80,074,957 (GRCm39)	T72I	probably benign	Het
Robo4	G	T	9: 37,314,601 (GRCm39)	R196L	probably benign	Het
Rsf1	G	GACGTCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Rsf1	A	T	7: 97,328,171 (GRCm39)	I1058F		Het
Ryr2	A	T	13: 11,799,990 (GRCm39)	V919E	probably damaging	Het
Slc39a6	A	T	18: 24,729,386 (GRCm39)	Y442*	probably null	Het
Slc4a11	T	G	2: 130,529,140 (GRCm39)	S437R	probably damaging	Het
Slc7a6	T	A	8: 106,922,534 (GRCm39)	V440E	probably damaging	Het
Sox2	A	T	3: 34,705,129 (GRCm39)	N189Y	possibly damaging	Het
Spata13	A	T	14: 60,994,030 (GRCm39)	M1161L	probably benign	Het
Spock3	T	A	8: 63,404,986 (GRCm39)	Y51*	probably null	Het
Sptbn1	A	G	11: 30,067,800 (GRCm39)	Y1805H	probably benign	Het
Tcerg1l	C	T	7: 137,999,260 (GRCm39)	W41*	probably null	Het
Tdrd9	A	G	12: 111,979,718 (GRCm39)	Y401C	probably benign	Het
Tex47	A	T	5: 7,355,115 (GRCm39)	I99F	probably damaging	Het
Tlr9	G	A	9: 106,099,834 (GRCm39)		probably benign	Het
Tmem209	T	A	6: 30,497,942 (GRCm39)	S276C	possibly damaging	Het
Tmprss11f	A	C	5: 86,687,618 (GRCm39)	S97A	possibly damaging	Het
Tnfaip8	ACACACTC	AC	18: 50,179,908 (GRCm39)		probably benign	Het
Ttc7	T	A	17: 87,637,520 (GRCm39)	M425K	probably damaging	Het
Ttn	C	T	2: 76,739,466 (GRCm39)	G3737D	unknown	Het
Unc13b	A	T	4: 43,176,484 (GRCm39)	R2437S	unknown	Het
Uqcrc1	C	T	9: 108,766,186 (GRCm39)	R58C	probably damaging	Het
Vmn1r128	A	G	7: 21,083,740 (GRCm39)	Y148C	possibly damaging	Het
Vmn1r193	T	C	13: 22,403,839 (GRCm39)	Y51C	probably benign	Het
Vmn2r112	A	G	17: 22,837,612 (GRCm39)	Y691C	probably damaging	Het
Vmn2r25	T	A	6: 123,800,569 (GRCm39)	D591V	probably damaging	Het
Vmn2r94	A	G	17: 18,464,335 (GRCm39)	S652P	possibly damaging	Het
Vps50	T	A	6: 3,536,967 (GRCm39)	C313S	probably damaging	Het
Vwa5b1	A	G	4: 138,338,041 (GRCm39)	V93A	probably benign	Het
Xrcc5	T	G	1: 72,382,190 (GRCm39)	D455E	possibly damaging	Het
Zdhhc6	T	A	19: 55,290,987 (GRCm39)		probably benign	Het
Zfp964	G	A	8: 70,116,405 (GRCm39)	G335D	probably damaging	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
R1605:Ptpn14	UTSW	1	189,597,709 (GRCm39)	missense	probably benign	0.00
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
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'- TGAACTGGCTTCAGCACCTG -3'
(R):5'- CAGCTTCGAGAAATCTTTTCCTGTC -3'

Sequencing Primer
(F):5'- CGTCTTCTGTAGGTGATATCCCAG -3'
(R):5'- GAGAAATCTTTTCCTGTCACCCC -3'

Posted On

2021-08-02