Mutagenetix > Incidental Mutation

Incidental Mutation 'R6374:Ptpn6'

535664

Institutional Source

Beutler Lab

Gene Symbol

Ptpn6

Ensembl Gene

ENSMUSG00000004266

Gene Name

protein tyrosine phosphatase, non-receptor type 6

Synonyms

Hcph, SHP-1, hcp, Ptp1C

MMRRC Submission

044524-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.489) question?

Stock #

R6374 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124697670-124715672 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 124709532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133747 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000173647]

AlphaFold

P29351

Predicted Effect

probably null
Transcript: ENSMUST00000173647

SMART Domains

Protein: ENSMUSP00000133747
Gene: ENSMUSG00000004266

Domain	Start	End	E-Value	Type
SH2	2	64	2.35e-6	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.4%

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. N-terminal part of this PTP contains two tandem Src homolog (SH2) domains, which act as protein phospho-tyrosine binding domains, and mediate the interaction of this PTP with its substrates. This PTP is expressed primarily in hematopoietic cells, and functions as an important regulator of multiple signaling pathways in hematopoietic cells. This PTP has been shown to interact with, and dephosphorylate a wide spectrum of phospho-proteins involved in hematopoietic cell signaling. Multiple alternatively spliced variants of this gene, which encode distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants are immunodeficient and autoimmune and exhibit neutrophilic skin lesions that disrupt hair follicles and give the motheaten appearance. Alleles vary in severity, with death occurring at 6-9 weeks postnatally due to severe pneumonitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	C	2: 151,314,800 (GRCm39)	S293A	possibly damaging	Het
5430401F13Rik	A	T	6: 131,529,892 (GRCm39)	Q162L	unknown	Het
Abca8a	A	T	11: 109,974,216 (GRCm39)	Y239*	probably null	Het
Aox3	T	C	1: 58,211,320 (GRCm39)	I959T	probably benign	Het
Atad2b	T	C	12: 5,068,002 (GRCm39)	V1000A	probably damaging	Het
Atic	C	T	1: 71,604,100 (GRCm39)	T221M	probably damaging	Het
Atp1a2	C	T	1: 172,116,942 (GRCm39)	R225H	probably damaging	Het
BC024139	A	G	15: 76,004,657 (GRCm39)		probably null	Het
Bpi	A	T	2: 158,113,974 (GRCm39)	T291S	probably damaging	Het
Ccdc170	C	T	10: 4,499,746 (GRCm39)	Q556*	probably null	Het
Cd3e	G	A	9: 44,920,661 (GRCm39)	L12F	probably benign	Het
Cdc42ep1	A	T	15: 78,731,649 (GRCm39)	R31S	probably damaging	Het
Cyp21a1	G	T	17: 35,023,110 (GRCm39)		probably null	Het
Dnase1l3	A	G	14: 7,974,115 (GRCm38)	M192T	probably damaging	Het
Dnmt1	A	T	9: 20,835,341 (GRCm39)	H330Q	possibly damaging	Het
Enah	T	C	1: 181,751,145 (GRCm39)	E232G	unknown	Het
Etnppl	C	T	3: 130,414,342 (GRCm39)	T73I	probably damaging	Het
Fam83b	T	A	9: 76,400,189 (GRCm39)	I305F	probably benign	Het
Galnt15	T	A	14: 31,780,116 (GRCm39)	I471N	probably damaging	Het
Gm19965	T	A	1: 116,750,021 (GRCm39)	N567K	probably benign	Het
Golga1	T	C	2: 38,924,080 (GRCm39)	Q435R	probably benign	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Hao1	T	G	2: 134,365,024 (GRCm39)	D201A	probably benign	Het
Heg1	T	C	16: 33,547,499 (GRCm39)	L786P	possibly damaging	Het
Hnrnpll	A	T	17: 80,357,303 (GRCm39)	C238S	possibly damaging	Het
Hrg	A	G	16: 22,779,742 (GRCm39)	Y340C	probably damaging	Het
Kyat3	A	T	3: 142,443,998 (GRCm39)	I411F	probably damaging	Het
Myo1a	T	C	10: 127,543,549 (GRCm39)	Y202H	probably damaging	Het
Nags	T	C	11: 102,037,337 (GRCm39)	C143R	possibly damaging	Het
Ncoa6	T	C	2: 155,263,076 (GRCm39)	N453D	probably damaging	Het
Nup35	G	T	2: 80,488,730 (GRCm39)	M322I	probably benign	Het
Oprl1	T	C	2: 181,357,721 (GRCm39)	V69A	probably damaging	Het
Or51v14	A	G	7: 103,261,128 (GRCm39)	L144P	probably benign	Het
Pappa2	T	A	1: 158,784,215 (GRCm39)	Y265F	probably damaging	Het
Pcsk6	C	T	7: 65,629,903 (GRCm39)	P343L	possibly damaging	Het
Peak1	C	A	9: 56,164,950 (GRCm39)	D993Y	probably damaging	Het
Polr2a	T	C	11: 69,627,758 (GRCm39)	Y1383C	probably damaging	Het
Ppme1	A	G	7: 99,990,272 (GRCm39)	S226P	probably damaging	Het
Prom1	C	T	5: 44,213,325 (GRCm39)	C127Y	probably damaging	Het
Reln	T	C	5: 22,285,712 (GRCm39)	E419G	probably benign	Het
Rnf32	C	T	5: 29,430,266 (GRCm39)	Q362*	probably null	Het
Sbspon	T	C	1: 15,953,887 (GRCm39)	D131G	probably benign	Het
Scyl3	T	C	1: 163,776,783 (GRCm39)	S392P	probably benign	Het
Shtn1	T	A	19: 59,026,728 (GRCm39)	D121V	possibly damaging	Het
Sin3a	A	G	9: 57,024,765 (GRCm39)	T1042A	probably benign	Het
Sipa1l2	A	T	8: 126,171,369 (GRCm39)	V1371D	probably damaging	Het
Slc20a2	T	C	8: 23,055,668 (GRCm39)	V584A	possibly damaging	Het
Smc6	T	A	12: 11,355,874 (GRCm39)		probably null	Het
Spata31h1	T	A	10: 82,124,731 (GRCm39)		probably benign	Het
Specc1	C	T	11: 62,047,418 (GRCm39)	T849I	possibly damaging	Het
Spta1	T	A	1: 174,041,734 (GRCm39)	L1368H	probably damaging	Het
Sqle	A	G	15: 59,187,959 (GRCm39)	E89G	possibly damaging	Het
Strbp	A	G	2: 37,493,020 (GRCm39)	V422A	probably damaging	Het
Sult6b1	G	T	17: 79,214,360 (GRCm39)	T21K	probably benign	Het
Tex15	A	G	8: 34,065,940 (GRCm39)	E1790G	probably damaging	Het
Tmem88b	T	A	4: 155,870,221 (GRCm39)		probably benign	Het
Traf3ip3	T	C	1: 192,864,318 (GRCm39)	D355G	possibly damaging	Het
Trim24	T	A	6: 37,930,484 (GRCm39)	V576E	probably benign	Het
Trim30c	C	T	7: 104,039,609 (GRCm39)	G62D	probably benign	Het
Trim66	T	G	7: 109,085,269 (GRCm39)	K100N	probably benign	Het
Tsnaxip1	A	T	8: 106,568,172 (GRCm39)	T313S	possibly damaging	Het
Ugt2b37	A	T	5: 87,390,279 (GRCm39)	I389N	probably damaging	Het
Unc13a	C	T	8: 72,094,097 (GRCm39)	V1335M	possibly damaging	Het
Urah	A	G	7: 140,415,124 (GRCm39)	T5A	probably benign	Het
Usp34	T	C	11: 23,388,914 (GRCm39)	Y2185H	probably damaging	Het
Usp44	T	C	10: 93,692,172 (GRCm39)	S643P	probably benign	Het
Vars2	A	G	17: 35,970,937 (GRCm39)	V631A	probably damaging	Het
Vmn2r11	G	A	5: 109,201,679 (GRCm39)	T275I	possibly damaging	Het
Vmn2r54	C	A	7: 12,349,420 (GRCm39)	V721F	probably damaging	Het
Vmn2r79	T	C	7: 86,651,498 (GRCm39)	I299T	probably benign	Het
Vps13d	T	C	4: 144,849,251 (GRCm39)	T2387A	probably damaging	Het
Washc5	A	T	15: 59,209,044 (GRCm39)	L610Q	probably benign	Het
Zbtb21	T	C	16: 97,751,568 (GRCm39)	E905G	probably damaging	Het
Zfhx4	A	G	3: 5,309,095 (GRCm39)	T774A	probably damaging	Het
Zfp534	T	C	4: 147,759,299 (GRCm39)	I457V	probably benign	Het
Zfp964	T	C	8: 70,111,994 (GRCm39)	Y29H	possibly damaging	Het
Znrf4	A	G	17: 56,818,702 (GRCm39)	F202L	probably damaging	Het

Other mutations in Ptpn6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00710:Ptpn6	APN	6	124,709,319 (GRCm39)	splice site	probably null
IGL01490:Ptpn6	APN	6	124,705,307 (GRCm39)	missense	probably damaging	1.00
IGL01865:Ptpn6	APN	6	124,709,428 (GRCm39)	missense	probably damaging	1.00
IGL02017:Ptpn6	APN	6	124,709,449 (GRCm39)	missense	probably damaging	0.98
IGL02272:Ptpn6	APN	6	124,698,171 (GRCm39)	missense	probably damaging	0.99
IGL02276:Ptpn6	APN	6	124,705,828 (GRCm39)	missense	probably null	1.00
IGL02556:Ptpn6	APN	6	124,705,623 (GRCm39)	missense	probably benign	0.00
candle	UTSW	6	124,705,382 (GRCm39)	missense	probably damaging	1.00
caterpillar	UTSW	6	124,701,947 (GRCm39)	missense	probably benign
farfalla_notturna	UTSW	6	124,709,398 (GRCm39)	missense	probably damaging	1.00
Flutterby	UTSW	6	124,698,821 (GRCm39)	missense	possibly damaging	0.89
Hawk	UTSW	6	124,705,748 (GRCm39)	missense	probably damaging	1.00
Lepidopteran	UTSW	6	124,705,135 (GRCm39)	missense	probably damaging	1.00
Malachite	UTSW	6	124,705,614 (GRCm39)	missense	possibly damaging	0.84
Moth	UTSW	6	124,705,135 (GRCm39)	missense	possibly damaging	0.89
Naphthalene	UTSW	6	124,698,752 (GRCm39)	missense	probably benign	0.42
spin	UTSW	6	124,705,522 (GRCm39)	missense	probably damaging	1.00
spin2	UTSW	6	124,709,332 (GRCm39)	missense	probably damaging	1.00
Vermeil	UTSW	6	124,709,913 (GRCm39)	missense	probably benign	0.10
R0183:Ptpn6	UTSW	6	124,705,914 (GRCm39)	missense	probably damaging	1.00
R0254:Ptpn6	UTSW	6	124,705,113 (GRCm39)	missense	probably damaging	1.00
R0636:Ptpn6	UTSW	6	124,702,242 (GRCm39)	missense	probably benign
R0835:Ptpn6	UTSW	6	124,704,499 (GRCm39)	critical splice acceptor site	probably null
R1383:Ptpn6	UTSW	6	124,698,856 (GRCm39)	missense	probably damaging	1.00
R1638:Ptpn6	UTSW	6	124,698,148 (GRCm39)	missense	probably benign
R1900:Ptpn6	UTSW	6	124,705,896 (GRCm39)	missense	probably benign	0.15
R2047:Ptpn6	UTSW	6	124,698,752 (GRCm39)	missense	probably benign	0.42
R2143:Ptpn6	UTSW	6	124,701,947 (GRCm39)	missense	probably benign	0.01
R3907:Ptpn6	UTSW	6	124,702,239 (GRCm39)	missense	possibly damaging	0.86
R4082:Ptpn6	UTSW	6	124,705,382 (GRCm39)	missense	probably damaging	1.00
R4382:Ptpn6	UTSW	6	124,704,361 (GRCm39)	missense	possibly damaging	0.86
R5319:Ptpn6	UTSW	6	124,709,913 (GRCm39)	missense	probably benign	0.10
R5807:Ptpn6	UTSW	6	124,701,947 (GRCm39)	missense	probably benign
R5878:Ptpn6	UTSW	6	124,705,748 (GRCm39)	missense	probably damaging	1.00
R6056:Ptpn6	UTSW	6	124,709,398 (GRCm39)	missense	probably damaging	1.00
R7238:Ptpn6	UTSW	6	124,698,821 (GRCm39)	missense	possibly damaging	0.89
R7381:Ptpn6	UTSW	6	124,705,135 (GRCm39)	missense	probably damaging	1.00
R7935:Ptpn6	UTSW	6	124,709,425 (GRCm39)	missense	possibly damaging	0.93
R8297:Ptpn6	UTSW	6	124,705,614 (GRCm39)	missense	possibly damaging	0.84
R8863:Ptpn6	UTSW	6	124,709,309 (GRCm39)	missense	probably damaging	1.00
R9160:Ptpn6	UTSW	6	124,705,135 (GRCm39)	missense	possibly damaging	0.89
R9176:Ptpn6	UTSW	6	124,702,249 (GRCm39)	missense	probably benign
R9448:Ptpn6	UTSW	6	124,709,771 (GRCm39)	missense	probably damaging	1.00
R9594:Ptpn6	UTSW	6	124,704,728 (GRCm39)	missense	probably benign	0.04
R9756:Ptpn6	UTSW	6	124,705,592 (GRCm39)	missense	probably damaging	1.00
Z1176:Ptpn6	UTSW	6	124,702,039 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACTTAAGGTGGATGATGGTGCC -3'
(R):5'- CAAGAACCAGGGTGACTTCTC -3'

Sequencing Primer
(F):5'- TGCGTGTAATACTCGACCAG -3'
(R):5'- TCCCTCTCAGTCAGGTGG -3'

Posted On

2018-10-11