Mutagenetix > Incidental Mutation

Incidental Mutation 'R6331:Ptpn11'

510909

Institutional Source

Beutler Lab

Gene Symbol

Ptpn11

Ensembl Gene

ENSMUSG00000043733

Gene Name

protein tyrosine phosphatase, non-receptor type 11

Synonyms

Shp2, SH-PTP2, Syp, 2700084A17Rik, SHP-2, SH2 domain-containing protein tyrosine phosphatase-2, PTP2C, PTP1D

MMRRC Submission

044485-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6331 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121268596-121329460 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121282716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 419 (H419L)

Ref Sequence

ENSEMBL: ENSMUSP00000098333 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054547] [ENSMUST00000100770]

AlphaFold

P35235

Predicted Effect

probably damaging
Transcript: ENSMUST00000054547
AA Change: H423L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000058757
Gene: ENSMUSG00000043733
AA Change: H423L

Domain	Start	End	E-Value	Type
SH2	4	87	8.34e-30	SMART
SH2	110	203	9.65e-35	SMART
PTPc	246	527	7.22e-133	SMART
low complexity region	563	573	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000100770
AA Change: H419L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000098333
Gene: ENSMUSG00000043733
AA Change: H419L

Domain	Start	End	E-Value	Type
SH2	4	87	8.34e-30	SMART
SH2	110	203	9.65e-35	SMART
PTPc	246	523	5.19e-134	SMART
low complexity region	559	569	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148407

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148871

Meta Mutation Damage Score

0.7828

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

100% (66/66)

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 two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous null mutants exhibit abnormal mesoderm patterning leading to a failure of gastrulation and death by embryonic day 10.5. In heterozygous state the null mutant acts as a dominant enhancer of a mild epidermal growth factor receptor mutation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,529,199 (GRCm39)	D981G	probably damaging	Het
Abcc1	C	A	16: 14,282,920 (GRCm39)	A1132D	probably damaging	Het
Adamts12	A	G	15: 11,241,519 (GRCm39)	T364A	probably damaging	Het
Ahnak	A	T	19: 8,983,989 (GRCm39)	M1758L	probably benign	Het
Ak9	T	C	10: 41,258,825 (GRCm39)	V774A	probably damaging	Het
Ash1l	A	G	3: 88,915,172 (GRCm39)	E1934G	probably benign	Het
Atp2b2	C	T	6: 113,774,092 (GRCm39)	A341T	probably benign	Het
Bach2	G	T	4: 32,238,816 (GRCm39)		probably benign	Het
Bltp3a	T	C	17: 28,112,175 (GRCm39)	I1150T	probably benign	Het
Brd10	C	T	19: 29,695,147 (GRCm39)	V1449I	probably benign	Het
Ccdc102a	T	C	8: 95,638,144 (GRCm39)	T241A	probably benign	Het
Chd5	G	T	4: 152,466,865 (GRCm39)	R1627S	probably benign	Het
Clint1	T	C	11: 45,785,908 (GRCm39)	S322P	probably benign	Het
Dapk1	T	A	13: 60,877,256 (GRCm39)	C498*	probably null	Het
Diaph3	T	G	14: 87,103,976 (GRCm39)	S803R	probably damaging	Het
Dmp1	T	C	5: 104,354,991 (GRCm39)	L10P	probably damaging	Het
Gcc2	T	C	10: 58,107,287 (GRCm39)	V741A	probably benign	Het
Gldn	A	G	9: 54,194,162 (GRCm39)	M119V	probably benign	Het
Gucy1b1	A	G	3: 81,941,718 (GRCm39)	S574P	possibly damaging	Het
Hapln4	T	A	8: 70,537,073 (GRCm39)		probably benign	Het
Hars1	A	G	18: 36,904,385 (GRCm39)	V209A	probably benign	Het
Htt	T	A	5: 35,053,231 (GRCm39)	F2521L	possibly damaging	Het
Kif14	A	G	1: 136,443,724 (GRCm39)	D1299G	probably null	Het
Krt25	T	A	11: 99,208,253 (GRCm39)	E325V	probably damaging	Het
Lcmt1	T	C	7: 122,977,405 (GRCm39)		probably benign	Het
Lrp1b	A	T	2: 40,693,221 (GRCm39)	N3266K	probably damaging	Het
Mctp1	T	A	13: 77,168,982 (GRCm39)		probably null	Het
Mtarc2	A	G	1: 184,551,525 (GRCm39)	S304P	probably damaging	Het
Myo5b	G	A	18: 74,750,064 (GRCm39)	A176T	probably damaging	Het
Myom3	A	G	4: 135,503,688 (GRCm39)	N379S	possibly damaging	Het
Nbea	A	T	3: 55,908,037 (GRCm39)	D1358E	possibly damaging	Het
Nod1	T	C	6: 54,901,968 (GRCm39)	E939G	probably damaging	Het
Obox1	A	G	7: 15,289,294 (GRCm39)	R70G	probably benign	Het
Or13c25	A	G	4: 52,911,399 (GRCm39)	Y132H	probably damaging	Het
Or13p3	A	G	4: 118,567,144 (GRCm39)	E180G	probably benign	Het
Or4a2	C	T	2: 89,248,695 (GRCm39)	G21S	probably benign	Het
Or5m12	T	C	2: 85,734,560 (GRCm39)	I279M	probably benign	Het
Otof	T	C	5: 30,529,279 (GRCm39)	D1745G	possibly damaging	Het
Pklr	A	G	3: 89,044,662 (GRCm39)	I47V	probably damaging	Het
Pms2	T	A	5: 143,851,451 (GRCm39)	S123T	possibly damaging	Het
Pnpla2	T	C	7: 141,039,198 (GRCm39)	S337P	probably damaging	Het
Ptgfrn	A	C	3: 100,952,936 (GRCm39)	V766G	possibly damaging	Het
Rims3	T	A	4: 120,740,350 (GRCm39)	V99E	probably damaging	Het
Rmc1	G	A	18: 12,313,571 (GRCm39)	R228H	probably damaging	Het
Samd9l	A	G	6: 3,376,361 (GRCm39)	V300A	probably damaging	Het
Sdad1	T	C	5: 92,451,789 (GRCm39)	D144G	probably damaging	Het
Siglecg	T	C	7: 43,058,178 (GRCm39)	Y22H	possibly damaging	Het
Slc39a1	A	G	3: 90,159,588 (GRCm39)	K305R	possibly damaging	Het
Slc5a4a	A	G	10: 76,014,034 (GRCm39)	R414G	probably damaging	Het
Smg1	T	C	7: 117,753,500 (GRCm39)		probably benign	Het
Tbc1d9b	C	T	11: 50,022,324 (GRCm39)	A20V	possibly damaging	Het
Tgfb3	G	T	12: 86,110,638 (GRCm39)	D237E	probably benign	Het
Tle6	A	G	10: 81,431,073 (GRCm39)	S234P	probably benign	Het
Tnrc6b	A	G	15: 80,763,815 (GRCm39)	N439S	probably benign	Het
Trim33	T	C	3: 103,248,925 (GRCm39)	S783P	probably benign	Het
Ttn	A	T	2: 76,632,698 (GRCm39)	Y12373N	probably damaging	Het
Tube1	G	A	10: 39,010,097 (GRCm39)	V7I	probably benign	Het
Tufm	T	C	7: 126,088,410 (GRCm39)	V265A	probably benign	Het
Usp32	T	C	11: 84,877,402 (GRCm39)	H1550R	possibly damaging	Het
Usp33	A	T	3: 152,081,887 (GRCm39)	M546L	probably damaging	Het
Uspl1	C	A	5: 149,151,097 (GRCm39)	Q752K	probably benign	Het
Vmn1r20	A	G	6: 57,408,655 (GRCm39)		probably null	Het
Vmn1r201	T	C	13: 22,659,521 (GRCm39)	F245S	probably damaging	Het
Vmn2r3	A	G	3: 64,186,182 (GRCm39)	S168P	probably damaging	Het
Wdr24	T	G	17: 26,044,650 (GRCm39)	D168E	possibly damaging	Het
Zfp646	C	T	7: 127,482,853 (GRCm39)	P1677S	probably damaging	Het

Other mutations in Ptpn11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01326:Ptpn11	APN	5	121,281,199 (GRCm39)	missense	probably damaging	1.00
IGL03132:Ptpn11	APN	5	121,272,878 (GRCm39)	missense	possibly damaging	0.94
noon	UTSW	5	121,282,716 (GRCm39)	missense	probably damaging	1.00
PIT4515001:Ptpn11	UTSW	5	121,302,617 (GRCm39)	missense	probably damaging	0.96
R0837:Ptpn11	UTSW	5	121,287,174 (GRCm39)	missense	probably benign
R1544:Ptpn11	UTSW	5	121,275,574 (GRCm39)	missense	probably benign	0.04
R2131:Ptpn11	UTSW	5	121,310,089 (GRCm39)	missense	probably damaging	0.99
R4124:Ptpn11	UTSW	5	121,275,520 (GRCm39)	missense	probably benign	0.00
R6082:Ptpn11	UTSW	5	121,292,589 (GRCm39)	missense	probably benign
R6628:Ptpn11	UTSW	5	121,272,892 (GRCm39)	splice site	probably null
R7077:Ptpn11	UTSW	5	121,281,633 (GRCm39)	missense	probably benign	0.12
R7396:Ptpn11	UTSW	5	121,282,707 (GRCm39)	missense	probably benign	0.04
R8682:Ptpn11	UTSW	5	121,306,053 (GRCm39)	missense	possibly damaging	0.94
R8965:Ptpn11	UTSW	5	121,301,229 (GRCm39)	missense	possibly damaging	0.74
R9376:Ptpn11	UTSW	5	121,282,681 (GRCm39)	missense	probably damaging	1.00
Z1176:Ptpn11	UTSW	5	121,281,157 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGACAACTGACTTCCCAGC -3'
(R):5'- TTGGATCTCCTAACAGGCAGGTG -3'

Sequencing Primer
(F):5'- TGACTTCCCAGCCCCTAAG -3'
(R):5'- CAGGCTGACCCATTGATTGTCAAAG -3'

Posted On

2018-04-02