Mutagenetix > Incidental Mutation

Incidental Mutation 'R5022:Ptpn21'

389285

Institutional Source

Beutler Lab

Gene Symbol

Ptpn21

Ensembl Gene

ENSMUSG00000021009

Gene Name

protein tyrosine phosphatase, non-receptor type 21

Synonyms

PTPD1, PTPRL10

MMRRC Submission

042613-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.245) question?

Stock #

R5022 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98676741-98737405 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 98679407 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 1091 (R1091C)

Ref Sequence

ENSEMBL: ENSMUSP00000126975 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085116] [ENSMUST00000170188] [ENSMUST00000221148] [ENSMUST00000221535] [ENSMUST00000221932]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000085116
AA Change: R1091C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000082197
Gene: ENSMUSG00000021009
AA Change: R1091C

Domain	Start	End	E-Value	Type
B41	19	222	5.04e-69	SMART
FERM_C	226	312	4.66e-26	SMART
low complexity region	332	343	N/A	INTRINSIC
low complexity region	563	574	N/A	INTRINSIC
low complexity region	710	724	N/A	INTRINSIC
PTPc	897	1171	7.31e-111	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000170188
AA Change: R1091C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126975
Gene: ENSMUSG00000021009
AA Change: R1091C

Domain	Start	End	E-Value	Type
B41	19	222	5.04e-69	SMART
FERM_C	226	312	4.66e-26	SMART
low complexity region	332	343	N/A	INTRINSIC
low complexity region	563	574	N/A	INTRINSIC
low complexity region	710	724	N/A	INTRINSIC
PTPc	897	1171	7.31e-111	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000221148

Predicted Effect

probably benign
Transcript: ENSMUST00000221535

Predicted Effect

probably benign
Transcript: ENSMUST00000221932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223321

Meta Mutation Damage Score

0.2077

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.6%

Validation Efficiency

99% (110/111)

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 domain, similar to cytoskeletal- associated proteins including band 4.1, ezrin, merlin, and radixin. This PTP was shown to specially interact with BMX/ETK, a member of Tec tyrosine kinase family characterized by a multimodular structures including PH, SH3, and SH2 domains. The interaction of this PTP with BMX kinase was found to increase the activation of STAT3, but not STAT2 kinase. Studies of the similar gene in mice suggested the possible roles of this PTP in liver regeneration and spermatogenesis. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	TCGACTGC	T	4: 53,041,570 (GRCm38)		probably null	Het
Abca15	T	C	7: 120,346,096 (GRCm38)	I465T	probably damaging	Het
Abca3	C	T	17: 24,374,300 (GRCm38)	R224C	probably damaging	Het
Abcb4	T	A	5: 8,909,054 (GRCm38)		probably null	Het
Acan	T	C	7: 79,092,808 (GRCm38)		probably null	Het
Aebp2	G	A	6: 140,637,730 (GRCm38)	R109Q	possibly damaging	Het
Agfg2	A	T	5: 137,660,160 (GRCm38)		probably null	Het
Ankib1	T	A	5: 3,734,011 (GRCm38)	I322F	possibly damaging	Het
AW551984	A	T	9: 39,597,965 (GRCm38)	N293K	probably benign	Het
BC028528	T	A	3: 95,888,823 (GRCm38)		probably benign	Het
Bicc1	A	G	10: 70,947,883 (GRCm38)	S393P	possibly damaging	Het
Birc6	A	G	17: 74,692,332 (GRCm38)	Y4656C	probably damaging	Het
Bmp3	A	G	5: 98,872,824 (GRCm38)	R369G	probably damaging	Het
C1d	T	A	11: 17,266,674 (GRCm38)	N135K	probably benign	Het
Ccdc148	G	A	2: 58,827,632 (GRCm38)	A453V	probably damaging	Het
Cd163	C	T	6: 124,325,288 (GRCm38)	T937I	probably damaging	Het
Celf2	C	T	2: 6,607,847 (GRCm38)		probably benign	Het
Chga	T	C	12: 102,562,837 (GRCm38)	W358R	probably damaging	Het
Clec4b2	A	T	6: 123,200,956 (GRCm38)	S77C	probably null	Het
Crim1	T	C	17: 78,280,129 (GRCm38)	V221A	possibly damaging	Het
D630003M21Rik	A	T	2: 158,217,633 (GRCm38)	S116T	probably damaging	Het
Dlg5	T	C	14: 24,136,622 (GRCm38)	E1847G	probably damaging	Het
Dmxl1	T	A	18: 49,895,127 (GRCm38)	I2206K	probably damaging	Het
Dusp7	T	A	9: 106,373,741 (GRCm38)	L355Q	probably damaging	Het
Exd2	T	A	12: 80,496,790 (GRCm38)	N582K	probably damaging	Het
Fbln1	G	A	15: 85,237,626 (GRCm38)	S316N	probably damaging	Het
Fchsd1	A	G	18: 37,964,810 (GRCm38)	I340T	possibly damaging	Het
Fn1	T	C	1: 71,624,179 (GRCm38)	Y1050C	probably damaging	Het
Fsip2	A	G	2: 82,979,429 (GRCm38)	I2031V	probably benign	Het
Gm10803	A	C	2: 93,564,172 (GRCm38)	L96F	probably damaging	Het
Gm12169	T	A	11: 46,528,532 (GRCm38)	D58E	probably damaging	Het
Gm14569	T	C	X: 36,430,817 (GRCm38)	D1413G	probably benign	Het
Gm15455	T	C	1: 33,837,351 (GRCm38)		noncoding transcript	Het
Gm1818	G	C	12: 48,555,535 (GRCm38)		noncoding transcript	Het
Gm4907	G	A	X: 23,907,241 (GRCm38)	G327E	probably damaging	Het
Gm5039	T	C	12: 88,321,301 (GRCm38)	I61V	probably benign	Het
Gm5420	A	T	10: 21,691,727 (GRCm38)		noncoding transcript	Het
Gm6803	A	T	12: 88,018,711 (GRCm38)	S21T	unknown	Het
Gm7104	A	T	12: 88,285,759 (GRCm38)		noncoding transcript	Het
Gp2	A	G	7: 119,449,114 (GRCm38)	I427T	probably damaging	Het
Gpc4	G	A	X: 52,074,563 (GRCm38)	R148C	probably damaging	Het
Gpr142	A	C	11: 114,804,388 (GRCm38)	S60R	probably benign	Het
Helz2	T	C	2: 181,240,569 (GRCm38)	R144G	probably benign	Het
Herc1	A	T	9: 66,470,326 (GRCm38)	K3458M	possibly damaging	Het
Hnf4g	G	T	3: 3,644,587 (GRCm38)	A144S	probably damaging	Het
Irs2	A	C	8: 10,987,012 (GRCm38)	*1322G	probably null	Het
Keg1	A	G	19: 12,719,157 (GRCm38)	N288S	probably damaging	Het
Kif19a	G	A	11: 114,767,227 (GRCm38)	M37I	probably benign	Het
Klhl1	G	A	14: 96,136,706 (GRCm38)	P635S	probably benign	Het
Klk14	G	A	7: 43,692,077 (GRCm38)	C51Y	probably damaging	Het
Lsm11	T	C	11: 45,944,839 (GRCm38)	D25G	probably damaging	Het
Manea	A	T	4: 26,336,630 (GRCm38)	Y215*	probably null	Het
Mdga2	C	T	12: 66,470,760 (GRCm38)	C100Y	possibly damaging	Het
Mthfd1	T	G	12: 76,294,374 (GRCm38)	V480G	probably damaging	Het
Mthfd1	T	A	12: 76,301,328 (GRCm38)	M582K	probably damaging	Het
Myh7b	G	C	2: 155,632,373 (GRCm38)	R1669S	possibly damaging	Het
Nanos1	T	C	19: 60,756,980 (GRCm38)	Y239H	probably damaging	Het
Nat8	G	A	6: 85,830,857 (GRCm38)	T98I	possibly damaging	Het
Ndufs3	C	A	2: 90,898,660 (GRCm38)	A161S	probably benign	Het
Nexmif	A	T	X: 104,087,350 (GRCm38)	N320K	probably damaging	Het
Olfr1216	A	G	2: 89,014,043 (GRCm38)	V7A	probably damaging	Het
Olfr1228	C	T	2: 89,249,417 (GRCm38)	M92I	probably benign	Het
Olfr164	A	T	16: 19,286,059 (GRCm38)	V228D	probably damaging	Het
Olfr239	T	C	17: 33,199,777 (GRCm38)	F239S	probably damaging	Het
Olfr457	A	T	6: 42,471,287 (GRCm38)	V297E	possibly damaging	Het
Olfr589	G	A	7: 103,155,735 (GRCm38)	P4L	probably benign	Het
Olfr727	T	C	14: 50,127,012 (GRCm38)	V145A	possibly damaging	Het
Olfr822	T	C	10: 130,074,593 (GRCm38)	L61P	probably damaging	Het
Pcdhb14	T	A	18: 37,450,170 (GRCm38)	N776K	probably benign	Het
Pip5k1c	G	A	10: 81,310,889 (GRCm38)		probably null	Het
Plk4	G	A	3: 40,802,077 (GRCm38)		probably null	Het
Prmt8	A	G	6: 127,711,163 (GRCm38)	Y231H	possibly damaging	Het
Prpf4b	T	C	13: 34,883,599 (GRCm38)		probably benign	Het
Pwwp2b	C	T	7: 139,255,578 (GRCm38)	P312S	possibly damaging	Het
Rad21	A	T	15: 51,966,706 (GRCm38)	I503K	probably benign	Het
Rai14	A	G	15: 10,574,506 (GRCm38)	S789P	probably damaging	Het
Rbm26	C	T	14: 105,144,252 (GRCm38)	D486N	probably damaging	Het
Rnf20	A	G	4: 49,642,016 (GRCm38)		probably benign	Het
Ros1	A	G	10: 52,124,075 (GRCm38)	V1118A	possibly damaging	Het
Sema3d	A	C	5: 12,584,956 (GRCm38)	Y663S	probably damaging	Het
Serpina6	A	G	12: 103,651,712 (GRCm38)	W281R	probably damaging	Het
Slc8a3	A	G	12: 81,199,558 (GRCm38)	V900A	probably damaging	Het
Spats2l	G	T	1: 57,879,556 (GRCm38)	V30L	probably damaging	Het
Spg21	A	G	9: 65,475,949 (GRCm38)	D139G	probably damaging	Het
Sun3	T	C	11: 9,038,314 (GRCm38)	T3A	probably damaging	Het
Tcrg-V1	T	A	13: 19,340,231 (GRCm38)	S42T	probably benign	Het
Tep1	A	G	14: 50,828,999 (GRCm38)	Y2335H	probably benign	Het
Timm21	C	A	18: 84,949,414 (GRCm38)	V112L	possibly damaging	Het
Tlk1	A	T	2: 70,742,065 (GRCm38)	N386K	probably benign	Het
Trappc10	G	T	10: 78,217,160 (GRCm38)	F260L	possibly damaging	Het
Trmt112	T	C	19: 6,910,753 (GRCm38)	V91A	probably benign	Het
Ucp2	A	T	7: 100,498,372 (GRCm38)	N186I	possibly damaging	Het
Vmn1r119	A	G	7: 21,012,320 (GRCm38)	S46P	probably benign	Het
Vmn2r101	A	T	17: 19,611,387 (GRCm38)		probably null	Het
Vmn2r105	T	A	17: 20,208,414 (GRCm38)	H800L	probably damaging	Het
Vmn2r69	T	C	7: 85,411,159 (GRCm38)	M406V	possibly damaging	Het
Vmn2r84	A	G	10: 130,386,548 (GRCm38)	L601P	probably damaging	Het
Vps16	A	G	2: 130,439,452 (GRCm38)	S235G	probably benign	Het
Wap	T	C	11: 6,637,339 (GRCm38)		probably benign	Het
Wdr11	A	G	7: 129,624,711 (GRCm38)	I744M	probably benign	Het
Xiap	T	C	X: 42,094,465 (GRCm38)	F23L	probably benign	Het
Xkr7	A	G	2: 153,054,380 (GRCm38)	T385A	probably benign	Het
Zfp524	A	T	7: 5,018,417 (GRCm38)	I315F	probably benign	Het
Zfp62	T	A	11: 49,215,729 (GRCm38)	S216T	probably damaging	Het
Znfx1	T	C	2: 167,039,826 (GRCm38)	Y217C	probably damaging	Het

Other mutations in Ptpn21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Ptpn21	APN	12	98,680,468 (GRCm38)	missense	probably damaging	1.00
IGL00576:Ptpn21	APN	12	98,733,601 (GRCm38)	missense	probably damaging	1.00
IGL00577:Ptpn21	APN	12	98,733,601 (GRCm38)	missense	probably damaging	1.00
IGL00580:Ptpn21	APN	12	98,733,601 (GRCm38)	missense	probably damaging	1.00
IGL00583:Ptpn21	APN	12	98,733,601 (GRCm38)	missense	probably damaging	1.00
IGL00773:Ptpn21	APN	12	98,688,313 (GRCm38)	missense	probably benign	0.00
IGL00780:Ptpn21	APN	12	98,680,371 (GRCm38)	missense	probably damaging	1.00
IGL01516:Ptpn21	APN	12	98,715,189 (GRCm38)	missense	probably damaging	1.00
IGL01616:Ptpn21	APN	12	98,680,013 (GRCm38)	missense	probably damaging	1.00
IGL01939:Ptpn21	APN	12	98,689,161 (GRCm38)	missense	probably damaging	0.96
IGL02237:Ptpn21	APN	12	98,705,092 (GRCm38)	critical splice donor site	probably null
IGL02512:Ptpn21	APN	12	98,679,392 (GRCm38)	missense	probably benign	0.00
IGL02852:Ptpn21	APN	12	98,715,195 (GRCm38)	critical splice acceptor site	probably null
IGL02894:Ptpn21	APN	12	98,689,632 (GRCm38)	splice site	probably benign
IGL03024:Ptpn21	APN	12	98,680,056 (GRCm38)	missense	probably benign
IGL03220:Ptpn21	APN	12	98,678,623 (GRCm38)	missense	probably damaging	1.00
R0144:Ptpn21	UTSW	12	98,688,609 (GRCm38)	missense	probably benign	0.01
R0472:Ptpn21	UTSW	12	98,704,240 (GRCm38)	splice site	probably benign
R0675:Ptpn21	UTSW	12	98,688,216 (GRCm38)	missense	probably benign	0.16
R0771:Ptpn21	UTSW	12	98,689,080 (GRCm38)	missense	probably damaging	1.00
R1434:Ptpn21	UTSW	12	98,688,590 (GRCm38)	missense	probably damaging	1.00
R1470:Ptpn21	UTSW	12	98,688,476 (GRCm38)	missense	probably benign
R1470:Ptpn21	UTSW	12	98,688,476 (GRCm38)	missense	probably benign
R1837:Ptpn21	UTSW	12	98,733,626 (GRCm38)	missense	probably damaging	0.99
R1897:Ptpn21	UTSW	12	98,680,405 (GRCm38)	splice site	probably null
R2048:Ptpn21	UTSW	12	98,689,526 (GRCm38)	missense	possibly damaging	0.94
R2376:Ptpn21	UTSW	12	98,688,314 (GRCm38)	missense	possibly damaging	0.62
R3709:Ptpn21	UTSW	12	98,688,541 (GRCm38)	missense	probably benign
R4197:Ptpn21	UTSW	12	98,680,138 (GRCm38)	missense	probably damaging	1.00
R4283:Ptpn21	UTSW	12	98,733,475 (GRCm38)	missense	probably damaging	0.99
R4368:Ptpn21	UTSW	12	98,678,593 (GRCm38)	missense	probably damaging	1.00
R4397:Ptpn21	UTSW	12	98,715,060 (GRCm38)	missense	probably damaging	0.98
R4397:Ptpn21	UTSW	12	98,688,248 (GRCm38)	missense	probably damaging	1.00
R4703:Ptpn21	UTSW	12	98,679,392 (GRCm38)	missense	probably benign	0.00
R4737:Ptpn21	UTSW	12	98,708,844 (GRCm38)	missense	probably benign	0.03
R4829:Ptpn21	UTSW	12	98,689,296 (GRCm38)	missense	probably damaging	1.00
R4926:Ptpn21	UTSW	12	98,715,195 (GRCm38)	critical splice acceptor site	probably null
R4974:Ptpn21	UTSW	12	98,680,103 (GRCm38)	missense	probably damaging	1.00
R5057:Ptpn21	UTSW	12	98,679,407 (GRCm38)	missense	probably damaging	1.00
R5395:Ptpn21	UTSW	12	98,715,117 (GRCm38)	missense	probably damaging	1.00
R5608:Ptpn21	UTSW	12	98,688,777 (GRCm38)	missense	probably benign	0.00
R5741:Ptpn21	UTSW	12	98,679,289 (GRCm38)	missense	probably damaging	1.00
R5785:Ptpn21	UTSW	12	98,682,550 (GRCm38)	missense	probably damaging	0.99
R5959:Ptpn21	UTSW	12	98,708,889 (GRCm38)	splice site	probably null
R5968:Ptpn21	UTSW	12	98,710,890 (GRCm38)	missense	probably damaging	1.00
R5984:Ptpn21	UTSW	12	98,689,076 (GRCm38)	missense	probably damaging	1.00
R6005:Ptpn21	UTSW	12	98,678,552 (GRCm38)	makesense	probably null
R6181:Ptpn21	UTSW	12	98,699,999 (GRCm38)	missense	probably damaging	0.99
R6226:Ptpn21	UTSW	12	98,715,172 (GRCm38)	missense	probably damaging	1.00
R6226:Ptpn21	UTSW	12	98,680,116 (GRCm38)	missense	probably benign	0.24
R6317:Ptpn21	UTSW	12	98,689,262 (GRCm38)	missense	probably damaging	1.00
R6370:Ptpn21	UTSW	12	98,689,034 (GRCm38)	missense	possibly damaging	0.86
R6485:Ptpn21	UTSW	12	98,698,872 (GRCm38)	nonsense	probably null
R6894:Ptpn21	UTSW	12	98,715,181 (GRCm38)	missense	probably damaging	1.00
R7122:Ptpn21	UTSW	12	98,688,912 (GRCm38)	missense	probably damaging	0.99
R7232:Ptpn21	UTSW	12	98,688,737 (GRCm38)	missense	probably benign	0.17
R7289:Ptpn21	UTSW	12	98,704,191 (GRCm38)	missense	probably benign	0.35
R7327:Ptpn21	UTSW	12	98,680,101 (GRCm38)	missense	probably damaging	1.00
R7474:Ptpn21	UTSW	12	98,737,363 (GRCm38)	critical splice donor site	probably null
R7748:Ptpn21	UTSW	12	98,688,772 (GRCm38)	missense	probably benign	0.01
R7816:Ptpn21	UTSW	12	98,682,532 (GRCm38)	missense	probably damaging	1.00
R7867:Ptpn21	UTSW	12	98,705,176 (GRCm38)	missense	probably damaging	1.00
R7878:Ptpn21	UTSW	12	98,715,128 (GRCm38)	missense	probably damaging	1.00
R7911:Ptpn21	UTSW	12	98,688,842 (GRCm38)	missense	probably damaging	0.99
R8100:Ptpn21	UTSW	12	98,682,622 (GRCm38)	missense	possibly damaging	0.61
R8199:Ptpn21	UTSW	12	98,678,582 (GRCm38)	missense	possibly damaging	0.92
R8272:Ptpn21	UTSW	12	98,688,530 (GRCm38)	missense	probably benign
R8481:Ptpn21	UTSW	12	98,688,894 (GRCm38)	missense	probably benign	0.03
R8535:Ptpn21	UTSW	12	98,680,026 (GRCm38)	missense	probably damaging	0.98
R8775:Ptpn21	UTSW	12	98,682,742 (GRCm38)	critical splice acceptor site	probably null
R8775-TAIL:Ptpn21	UTSW	12	98,682,742 (GRCm38)	critical splice acceptor site	probably null
R8929:Ptpn21	UTSW	12	98,689,137 (GRCm38)	missense	probably damaging	0.99
R8969:Ptpn21	UTSW	12	98,689,025 (GRCm38)	missense	probably benign	0.39
R9189:Ptpn21	UTSW	12	98,689,002 (GRCm38)	missense	probably damaging	1.00
R9781:Ptpn21	UTSW	12	98,688,911 (GRCm38)	missense	probably damaging	1.00
Z1177:Ptpn21	UTSW	12	98,688,458 (GRCm38)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GTTCAGAAGCTATGGGCCAC -3'
(R):5'- GAGACACCAACTTGCCTTCAGTC -3'

Sequencing Primer
(F):5'- CTTCCCAGCGCTCACTG -3'
(R):5'- TGCCTTCAGTCACCATCGGG -3'

Posted On

2016-06-06