Mutagenetix > Incidental Mutation

Incidental Mutation 'R1845:Ptpn14'

207610

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

039870-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1845 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

189728268-189876695 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 189839502 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 263 (S263R)

Ref Sequence

ENSEMBL: ENSMUSP00000027898 (fasta)

Gene Model

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

AlphaFold

Q62130

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027898
AA Change: S263R

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000027898
Gene: ENSMUSG00000026604
AA Change: S263R

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: S263R

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000095051
Gene: ENSMUSG00000026604
AA Change: S263R

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: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.7%

Validation Efficiency

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	T	A	12: 55,304,332 (GRCm38)	I142N	possibly damaging	Het
1110038F14Rik	CGGG	CGGGGGG	15: 76,949,663 (GRCm38)		probably benign	Het
Abca17	A	T	17: 24,267,716 (GRCm38)	C1446S	probably damaging	Het
Asb16	C	A	11: 102,276,756 (GRCm38)	A316E	possibly damaging	Het
Axdnd1	C	T	1: 156,376,544 (GRCm38)	V384I	possibly damaging	Het
BC024139	A	T	15: 76,125,261 (GRCm38)	L207*	probably null	Het
Bcl3	T	G	7: 19,809,627 (GRCm38)	S305R	probably damaging	Het
Cachd1	T	C	4: 100,777,358 (GRCm38)	V77A	probably benign	Het
Cd101	C	T	3: 101,029,448 (GRCm38)		probably null	Het
Cela1	T	C	15: 100,685,167 (GRCm38)	N64S	probably benign	Het
Cep128	T	C	12: 91,289,598 (GRCm38)	D366G	probably benign	Het
Col12a1	A	G	9: 79,697,541 (GRCm38)	V675A	probably benign	Het
Copg1	A	G	6: 87,893,818 (GRCm38)	Y201C	probably damaging	Het
Cyp24a1	T	C	2: 170,487,917 (GRCm38)	R372G	probably benign	Het
Dcaf1	A	C	9: 106,851,962 (GRCm38)	I567L	probably benign	Het
Dcn	A	G	10: 97,506,674 (GRCm38)	D164G	probably benign	Het
Dnase2a	T	A	8: 84,909,322 (GRCm38)	H113Q	probably benign	Het
Espl1	T	C	15: 102,299,013 (GRCm38)	V304A	probably benign	Het
Fam193a	A	G	5: 34,443,372 (GRCm38)	D315G	possibly damaging	Het
Fkbp8	T	A	8: 70,531,035 (GRCm38)		probably null	Het
Foxp4	T	A	17: 47,877,959 (GRCm38)	T321S	probably null	Het
Fut10	A	G	8: 31,236,300 (GRCm38)	N361S	probably damaging	Het
Gm13762	A	G	2: 88,973,138 (GRCm38)	V251A	probably benign	Het
Gyg	A	T	3: 20,151,122 (GRCm38)	V94D	probably damaging	Het
Has2	T	C	15: 56,668,578 (GRCm38)	K247R	probably damaging	Het
Helz2	G	T	2: 181,232,085 (GRCm38)	D2205E	probably benign	Het
Hps6	T	A	19: 46,004,970 (GRCm38)	S449T	probably benign	Het
Ints10	T	C	8: 68,794,671 (GRCm38)	Y64H	probably damaging	Het
Kalrn	T	C	16: 34,356,961 (GRCm38)	H278R	probably damaging	Het
Klhdc8a	T	C	1: 132,303,810 (GRCm38)	V280A	possibly damaging	Het
Klk1b5	A	G	7: 44,220,125 (GRCm38)	M210V	probably benign	Het
Kmt2c	G	A	5: 25,373,436 (GRCm38)	A614V	probably benign	Het
Lck	T	A	4: 129,558,086 (GRCm38)	I45F	probably benign	Het
Lin7a	A	C	10: 107,412,059 (GRCm38)	E75A	probably damaging	Het
Lrp1	A	T	10: 127,578,673 (GRCm38)	C1070S	probably damaging	Het
Mapk8ip3	G	T	17: 24,914,583 (GRCm38)	N289K	probably benign	Het
Mbtps1	T	C	8: 119,522,493 (GRCm38)	D686G	probably benign	Het
Mknk1	T	A	4: 115,873,231 (GRCm38)	C178*	probably null	Het
Mtmr6	A	G	14: 60,296,735 (GRCm38)	N474S	probably damaging	Het
Mvb12b	A	G	2: 33,840,157 (GRCm38)		probably null	Het
Myh6	T	C	14: 54,944,674 (GRCm38)	K1759R	probably damaging	Het
Nfatc1	T	C	18: 80,635,531 (GRCm38)	K881E	possibly damaging	Het
Nlrp10	A	G	7: 108,927,041 (GRCm38)	F30S	probably damaging	Het
Nop14	G	T	5: 34,650,328 (GRCm38)	A430E	possibly damaging	Het
Ntn4	C	T	10: 93,707,353 (GRCm38)	R314W	probably damaging	Het
Olfr1212	A	G	2: 88,958,867 (GRCm38)	I134V	probably damaging	Het
Olfr347	A	T	2: 36,734,842 (GRCm38)	I174F	probably damaging	Het
Olfr775	A	G	10: 129,250,594 (GRCm38)	E20G	probably benign	Het
Olfr794	A	T	10: 129,571,348 (GRCm38)	Q231L	probably damaging	Het
Olfr829	A	T	9: 18,857,486 (GRCm38)	Y287F	possibly damaging	Het
Osbpl7	C	A	11: 97,059,128 (GRCm38)	S378R	probably damaging	Het
Otof	A	T	5: 30,371,723 (GRCm38)	Y1775*	probably null	Het
Parp16	T	C	9: 65,215,594 (GRCm38)	S46P	possibly damaging	Het
Pdlim2	C	T	14: 70,164,779 (GRCm38)	R296H	probably damaging	Het
Pi16	A	T	17: 29,319,387 (GRCm38)	Q58L	possibly damaging	Het
Pld3	C	A	7: 27,539,452 (GRCm38)	M190I	probably benign	Het
Plscr4	T	G	9: 92,490,046 (GRCm38)	I290S	probably damaging	Het
Ppip5k2	T	C	1: 97,723,806 (GRCm38)	D928G	possibly damaging	Het
Ppp1r13l	T	A	7: 19,368,611 (GRCm38)	L15Q	probably damaging	Het
Sema7a	G	A	9: 57,954,899 (GRCm38)	V178I	possibly damaging	Het
Sesn2	A	T	4: 132,497,070 (GRCm38)	Y342*	probably null	Het
Shroom3	G	T	5: 92,943,086 (GRCm38)	V1151F	probably damaging	Het
Sltm	A	G	9: 70,543,032 (GRCm38)	N38S	possibly damaging	Het
Smg1	T	C	7: 118,154,622 (GRCm38)		probably benign	Het
Spsb1	A	T	4: 149,906,910 (GRCm38)	V67E	probably damaging	Het
Suox	A	G	10: 128,670,539 (GRCm38)	V540A	possibly damaging	Het
Tbc1d12	T	A	19: 38,911,085 (GRCm38)	I483N	probably damaging	Het
Tbcb	A	T	7: 30,224,499 (GRCm38)	D198E	possibly damaging	Het
Tbce	T	C	13: 14,019,709 (GRCm38)	K122E	probably benign	Het
Tcap	T	A	11: 98,384,379 (GRCm38)	L113H	probably damaging	Het
Thsd7a	A	T	6: 12,321,041 (GRCm38)	I1545N	probably damaging	Het
Tmed10	T	C	12: 85,374,503 (GRCm38)	T55A	possibly damaging	Het
Tmem268	T	A	4: 63,579,943 (GRCm38)	V200D	probably damaging	Het
Tmem45b	A	C	9: 31,431,355 (GRCm38)	I50M	probably damaging	Het
Trp53bp2	T	C	1: 182,458,903 (GRCm38)	W1103R	probably damaging	Het
Ttn	C	T	2: 76,764,033 (GRCm38)	V20524M	probably damaging	Het
Ulk2	A	T	11: 61,812,738 (GRCm38)	N379K	probably benign	Het
Vmn1r59	A	G	7: 5,454,554 (GRCm38)	V69A	probably benign	Het
Vmn2r10	A	T	5: 109,001,995 (GRCm38)	Y394*	probably null	Het
Zfp212	T	C	6: 47,931,541 (GRCm38)	S485P	probably benign	Het
Zfp512b	A	T	2: 181,585,735 (GRCm38)	C776S	probably damaging	Het
Zfp518b	A	G	5: 38,671,741 (GRCm38)	Y974H	probably damaging	Het

Other mutations in Ptpn14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01014:Ptpn14	APN	1	189,822,633 (GRCm38)	missense	probably damaging	1.00
IGL02501:Ptpn14	APN	1	189,850,390 (GRCm38)	missense	probably benign	0.14
IGL03011:Ptpn14	APN	1	189,839,557 (GRCm38)	missense	probably damaging	1.00
jelly	UTSW	1	189,822,675 (GRCm38)	nonsense	probably null
Rubens	UTSW	1	189,832,800 (GRCm38)	critical splice donor site	probably null
R0724:Ptpn14	UTSW	1	189,850,947 (GRCm38)	missense	possibly damaging	0.52
R0791:Ptpn14	UTSW	1	189,836,440 (GRCm38)	splice site	probably benign
R1363:Ptpn14	UTSW	1	189,798,628 (GRCm38)	missense	probably damaging	1.00
R1605:Ptpn14	UTSW	1	189,865,512 (GRCm38)	missense	probably benign	0.00
R1840:Ptpn14	UTSW	1	189,786,851 (GRCm38)	missense	probably damaging	1.00
R1891:Ptpn14	UTSW	1	189,798,653 (GRCm38)	missense	probably damaging	1.00
R2187:Ptpn14	UTSW	1	189,863,228 (GRCm38)	nonsense	probably null
R2288:Ptpn14	UTSW	1	189,865,498 (GRCm38)	missense	probably damaging	1.00
R3686:Ptpn14	UTSW	1	189,851,399 (GRCm38)	missense	probably damaging	1.00
R3895:Ptpn14	UTSW	1	189,850,546 (GRCm38)	missense	probably benign	0.31
R3898:Ptpn14	UTSW	1	189,850,531 (GRCm38)	missense	probably benign	0.35
R4004:Ptpn14	UTSW	1	189,850,510 (GRCm38)	missense	probably benign	0.00
R4816:Ptpn14	UTSW	1	189,856,800 (GRCm38)	missense	probably damaging	1.00
R4883:Ptpn14	UTSW	1	189,850,800 (GRCm38)	missense	probably damaging	0.99
R4928:Ptpn14	UTSW	1	189,822,642 (GRCm38)	missense	probably damaging	1.00
R4931:Ptpn14	UTSW	1	189,851,277 (GRCm38)	missense	probably benign
R4957:Ptpn14	UTSW	1	189,851,272 (GRCm38)	missense	probably benign	0.02
R5009:Ptpn14	UTSW	1	189,850,534 (GRCm38)	missense	probably benign
R5038:Ptpn14	UTSW	1	189,786,886 (GRCm38)	missense	probably damaging	1.00
R5264:Ptpn14	UTSW	1	189,832,800 (GRCm38)	critical splice donor site	probably null
R5373:Ptpn14	UTSW	1	189,850,963 (GRCm38)	missense	probably benign
R5441:Ptpn14	UTSW	1	189,798,570 (GRCm38)	missense	probably damaging	1.00
R5540:Ptpn14	UTSW	1	189,846,364 (GRCm38)	missense	probably benign	0.05
R5638:Ptpn14	UTSW	1	189,786,841 (GRCm38)	missense	probably damaging	1.00
R5746:Ptpn14	UTSW	1	189,846,413 (GRCm38)	critical splice donor site	probably null
R5872:Ptpn14	UTSW	1	189,851,032 (GRCm38)	missense	probably benign	0.00
R5988:Ptpn14	UTSW	1	189,850,387 (GRCm38)	missense	probably damaging	1.00
R6139:Ptpn14	UTSW	1	189,851,165 (GRCm38)	missense	probably benign	0.01
R6295:Ptpn14	UTSW	1	189,850,800 (GRCm38)	missense	probably damaging	0.99
R6770:Ptpn14	UTSW	1	189,832,773 (GRCm38)	missense	probably damaging	1.00
R7097:Ptpn14	UTSW	1	189,863,398 (GRCm38)	nonsense	probably null
R7320:Ptpn14	UTSW	1	189,832,759 (GRCm38)	missense	probably benign	0.11
R7324:Ptpn14	UTSW	1	189,863,424 (GRCm38)	missense	possibly damaging	0.46
R7599:Ptpn14	UTSW	1	189,850,745 (GRCm38)	missense	probably benign	0.39
R7699:Ptpn14	UTSW	1	189,865,411 (GRCm38)	missense	probably benign	0.08
R7700:Ptpn14	UTSW	1	189,865,411 (GRCm38)	missense	probably benign	0.08
R8379:Ptpn14	UTSW	1	189,833,401 (GRCm38)	missense	possibly damaging	0.95
R8889:Ptpn14	UTSW	1	189,822,675 (GRCm38)	nonsense	probably null
R9659:Ptpn14	UTSW	1	189,854,977 (GRCm38)	missense	probably benign	0.00
R9719:Ptpn14	UTSW	1	189,851,287 (GRCm38)	missense	probably benign	0.00
Z1177:Ptpn14	UTSW	1	189,860,470 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATCAAATTGTTGCCTGTGTGAG -3'
(R):5'- CAGCATTGAGTCCCATGTGG -3'

Sequencing Primer
(F):5'- GCCTGTGTGAGTGGTACC -3'
(R):5'- TGCAGGAGTGTCCAACATGC -3'

Posted On

2014-06-23