Mutagenetix > Incidental Mutation

Incidental Mutation 'R7658:Ptprn2'

591383

Institutional Source

Beutler Lab

Gene Symbol

Ptprn2

Ensembl Gene

ENSMUSG00000056553

Gene Name

protein tyrosine phosphatase, receptor type, N polypeptide 2

Synonyms

phogrin, 4930425H11Rik, IA-2 beta, PTP-NP, IA-2beta

MMRRC Submission

045703-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

R7658 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116485720-117276849 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 116722119 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 66 (M66R)

Ref Sequence

ENSEMBL: ENSMUSP00000064046 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070733] [ENSMUST00000190247]

AlphaFold

P80560

Predicted Effect

probably benign
Transcript: ENSMUST00000070733
AA Change: M66R

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000064046
Gene: ENSMUSG00000056553
AA Change: M66R

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
RESP18	58	157	1.9e-40	SMART
low complexity region	393	426	N/A	INTRINSIC
Pfam:Receptor_IA-2	495	583	1.5e-35	PFAM
low complexity region	687	707	N/A	INTRINSIC
PTPc	730	993	4.42e-119	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000190247
AA Change: M66R

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000139978
Gene: ENSMUSG00000056553
AA Change: M66R

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
RESP18	58	157	1.9e-40	SMART
low complexity region	393	426	N/A	INTRINSIC
Pfam:Receptor_IA-2	494	584	2.5e-43	PFAM
transmembrane domain	602	624	N/A	INTRINSIC
low complexity region	687	707	N/A	INTRINSIC
PTPc	730	932	8.81e-64	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with sequence similarity to receptor-like protein tyrosine phosphatases. However, tyrosine phosphatase activity has not been experimentally validated for this protein. Studies of the rat ortholog suggest that the encoded protein may instead function as a phosphatidylinositol phosphatase with the ability to dephosphorylate phosphatidylinositol 3-phosphate and phosphatidylinositol 4,5-diphosphate, and this function may be involved in the regulation of insulin secretion. This protein has been identified as an autoantigen in insulin-dependent diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PHENOTYPE: Homozygous null mice display impaired glucose tolerance but normal fasting and non-fasting blood glucose and insulin levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110025L11Rik	G	T	16: 89,063,730 (GRCm38)	S72Y	unknown	Het
6430531B16Rik	T	C	7: 139,976,618 (GRCm38)	N152S	probably benign	Het
Abca8b	T	A	11: 109,935,717 (GRCm38)	K1568N	probably benign	Het
Adcy6	T	A	15: 98,596,067 (GRCm38)	Y865F	probably benign	Het
Adgrf3	A	T	5: 30,197,206 (GRCm38)	V608D	probably benign	Het
Agbl1	G	T	7: 76,766,369 (GRCm38)	A965S	unknown	Het
Agbl3	C	T	6: 34,832,508 (GRCm38)	P690L	probably benign	Het
Akap9	C	G	5: 3,968,745 (GRCm38)	H1109D	probably benign	Het
Amt	A	C	9: 108,297,231 (GRCm38)	H65P	probably damaging	Het
Ankrd11	T	A	8: 122,893,664 (GRCm38)	T1150S	probably benign	Het
Arhgap15	A	C	2: 44,142,268 (GRCm38)	H288P	probably benign	Het
Arhgap39	A	T	15: 76,737,417 (GRCm38)	M328K	probably benign	Het
Arhgef12	T	C	9: 42,992,536 (GRCm38)	K743R	probably damaging	Het
Atg2a	T	G	19: 6,251,263 (GRCm38)	V789G	probably damaging	Het
Ccdc54	T	C	16: 50,590,481 (GRCm38)	T141A	probably benign	Het
Ccng2	C	G	5: 93,273,343 (GRCm38)	S237R	probably benign	Het
Cdh5	T	C	8: 104,129,401 (GRCm38)		probably null	Het
Cdkl3	T	C	11: 52,027,182 (GRCm38)	V404A	not run	Het
Chrm2	A	T	6: 36,523,249 (GRCm38)	I14F	probably benign	Het
Cnbp	T	C	6: 87,845,276 (GRCm38)	K89E	possibly damaging	Het
Cntn6	T	A	6: 104,650,483 (GRCm38)	D92E	probably benign	Het
Col15a1	T	C	4: 47,245,591 (GRCm38)	F114S	possibly damaging	Het
Csrnp1	A	G	9: 119,972,403 (GRCm38)	F530S	probably benign	Het
Dcun1d3	C	T	7: 119,857,668 (GRCm38)	V274M	probably damaging	Het
Dph2	T	A	4: 117,890,281 (GRCm38)	H302L	possibly damaging	Het
Fam162a	A	T	16: 36,046,400 (GRCm38)	Y118*	probably null	Het
Fam186a	A	G	15: 99,939,844 (GRCm38)	Y2840H	unknown	Het
Fto	A	G	8: 91,666,322 (GRCm38)	K466E	probably benign	Het
Gal	T	A	19: 3,413,309 (GRCm38)	Y41F	probably damaging	Het
Gigyf2	A	T	1: 87,419,138 (GRCm38)	L620F	unknown	Het
Git2	C	T	5: 114,766,489 (GRCm38)	R123H	probably damaging	Het
Glud1	A	T	14: 34,311,157 (GRCm38)	E87V	probably benign	Het
Gm21190	T	G	5: 15,527,925 (GRCm38)	E94A	possibly damaging	Het
Gm5592	T	C	7: 41,288,710 (GRCm38)	V472A	probably benign	Het
Gpc5	T	A	14: 115,428,208 (GRCm38)	N481K	possibly damaging	Het
Gpn2	A	G	4: 133,591,376 (GRCm38)	E304G	probably benign	Het
Gsdmc2	T	C	15: 63,825,054 (GRCm38)	T423A	probably damaging	Het
Gucy2e	G	A	11: 69,226,229 (GRCm38)	Q789*	probably null	Het
Gxylt2	T	A	6: 100,783,143 (GRCm38)	V213E	probably damaging	Het
Ighv1-75	G	A	12: 115,834,111 (GRCm38)	L64F	possibly damaging	Het
Il17re	T	C	6: 113,458,982 (GRCm38)	C30R	probably benign	Het
Il7	G	T	3: 7,604,082 (GRCm38)	D31E	probably benign	Het
Ints4	T	C	7: 97,529,253 (GRCm38)	Y687H	possibly damaging	Het
Kdelr1	T	G	7: 45,882,977 (GRCm38)	V202G	probably benign	Het
Khnyn	C	A	14: 55,887,139 (GRCm38)	Y283*	probably null	Het
Klf11	T	C	12: 24,653,671 (GRCm38)	V52A	probably damaging	Het
Klhl7	A	G	5: 24,141,286 (GRCm38)	N310S	probably benign	Het
Krt27	A	T	11: 99,349,486 (GRCm38)	L202Q	possibly damaging	Het
Lce1d	A	G	3: 92,686,047 (GRCm38)	C20R	unknown	Het
Lim2	A	T	7: 43,433,630 (GRCm38)	I80F	possibly damaging	Het
Lrrk2	T	A	15: 91,700,358 (GRCm38)	F326Y	possibly damaging	Het
Lyst	A	T	13: 13,730,476 (GRCm38)	Y3246F	possibly damaging	Het
Mafb	T	A	2: 160,366,435 (GRCm38)	H81L	possibly damaging	Het
Mfsd5	G	A	15: 102,280,877 (GRCm38)	R228H	probably benign	Het
Mmp1b	A	T	9: 7,386,675 (GRCm38)	F150I	possibly damaging	Het
Mthfd1	T	A	12: 76,270,435 (GRCm38)	L20Q	probably damaging	Het
Mxra8	A	G	4: 155,842,963 (GRCm38)	T402A	probably benign	Het
Ndc80	A	T	17: 71,508,663 (GRCm38)	L376M	probably damaging	Het
Nsd1	A	T	13: 55,277,639 (GRCm38)	R1536S	probably damaging	Het
Nup210l	C	A	3: 90,211,993 (GRCm38)	H1874Q	probably benign	Het
Nyap1	T	C	5: 137,732,974 (GRCm38)	H776R	probably benign	Het
Patj	C	A	4: 98,688,179 (GRCm38)	H1773Q	probably damaging	Het
Pax8	T	A	2: 24,436,511 (GRCm38)	T280S	probably benign	Het
Pcdhb19	A	G	18: 37,498,981 (GRCm38)	T610A	probably damaging	Het
Pde2a	A	G	7: 101,511,581 (GRCm38)	D919G	possibly damaging	Het
Pdk2	T	A	11: 95,028,965 (GRCm38)	Y240F	probably damaging	Het
Peg3	A	T	7: 6,709,610 (GRCm38)	I871N	probably damaging	Het
Pex1	A	T	5: 3,596,244 (GRCm38)		probably benign	Het
Pgm2l1	C	T	7: 100,250,328 (GRCm38)	R50W	probably damaging	Het
Phkg1	T	A	5: 129,865,923 (GRCm38)	K262N	probably damaging	Het
Pik3r4	A	G	9: 105,644,511 (GRCm38)	E92G	probably damaging	Het
Prmt6	A	T	3: 110,250,385 (GRCm38)	V196E	possibly damaging	Het
Rai14	C	T	15: 10,593,103 (GRCm38)	G152R	probably damaging	Het
Recql5	A	T	11: 115,923,276 (GRCm38)	S348T	probably damaging	Het
Rfk	T	G	19: 17,398,682 (GRCm38)		probably null	Het
Selenbp1	A	T	3: 94,944,102 (GRCm38)	M389L	probably benign	Het
Sipa1l2	G	A	8: 125,492,290 (GRCm38)	R103C	probably benign	Het
Slc10a6	T	A	5: 103,629,190 (GRCm38)	S15C	probably damaging	Het
Slc12a2	G	T	18: 57,932,524 (GRCm38)	V944L	probably benign	Het
Slc16a11	T	A	11: 70,215,317 (GRCm38)	L127Q	possibly damaging	Het
St6gal1	A	G	16: 23,356,228 (GRCm38)	Y272C	probably damaging	Het
Stab2	C	A	10: 86,981,135 (GRCm38)	V133F	probably benign	Het
Stradb	G	A	1: 58,992,726 (GRCm38)	V266I	probably damaging	Het
Tmem150b	A	G	7: 4,720,759 (GRCm38)	W140R	probably benign	Het
Tnnt3	A	T	7: 142,512,096 (GRCm38)	K157*	probably null	Het
Trove2	T	C	1: 143,770,873 (GRCm38)	T45A	probably damaging	Het
Ttn	T	G	2: 76,723,769 (GRCm38)	K30863N	probably damaging	Het
Vldlr	G	A	19: 27,243,136 (GRCm38)	R592H	probably benign	Het
Vmn1r12	A	T	6: 57,158,898 (GRCm38)		probably benign	Het
Vmn2r63	A	C	7: 42,925,269 (GRCm38)	S519R	probably damaging	Het
Zbtb22	G	C	17: 33,918,497 (GRCm38)	E539Q	probably damaging	Het
Zbtb44	G	A	9: 31,054,079 (GRCm38)	A262T	probably benign	Het
Zfp280d	A	T	9: 72,324,072 (GRCm38)	N455I	probably damaging	Het
Zfp287	T	C	11: 62,725,263 (GRCm38)	N201D	probably damaging	Het
Zfp988	T	C	4: 147,332,294 (GRCm38)	L395P	probably damaging	Het

Other mutations in Ptprn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01695:Ptprn2	APN	12	116,841,388 (GRCm38)	missense	probably benign	0.02
IGL01788:Ptprn2	APN	12	116,900,987 (GRCm38)	missense	probably damaging	0.98
IGL02172:Ptprn2	APN	12	116,873,697 (GRCm38)	splice site	probably benign
IGL02339:Ptprn2	APN	12	116,722,104 (GRCm38)	missense	probably damaging	1.00
IGL02706:Ptprn2	APN	12	116,888,898 (GRCm38)	missense	probably damaging	0.96
IGL03018:Ptprn2	APN	12	117,211,943 (GRCm38)	missense	probably damaging	1.00
IGL03267:Ptprn2	APN	12	116,876,344 (GRCm38)	nonsense	probably null
BB001:Ptprn2	UTSW	12	116,841,264 (GRCm38)	missense	probably benign	0.00
BB011:Ptprn2	UTSW	12	116,841,264 (GRCm38)	missense	probably benign	0.00
IGL03014:Ptprn2	UTSW	12	117,248,688 (GRCm38)	missense	probably damaging	1.00
R0066:Ptprn2	UTSW	12	117,276,602 (GRCm38)	missense	probably benign	0.07
R0066:Ptprn2	UTSW	12	117,276,602 (GRCm38)	missense	probably benign	0.07
R0115:Ptprn2	UTSW	12	117,211,846 (GRCm38)	splice site	probably benign
R0131:Ptprn2	UTSW	12	116,722,091 (GRCm38)	missense	probably damaging	1.00
R0131:Ptprn2	UTSW	12	116,722,091 (GRCm38)	missense	probably damaging	1.00
R0132:Ptprn2	UTSW	12	116,722,091 (GRCm38)	missense	probably damaging	1.00
R0481:Ptprn2	UTSW	12	117,211,846 (GRCm38)	splice site	probably benign
R0694:Ptprn2	UTSW	12	116,824,355 (GRCm38)	missense	possibly damaging	0.69
R0698:Ptprn2	UTSW	12	116,722,130 (GRCm38)	nonsense	probably null
R0746:Ptprn2	UTSW	12	116,901,017 (GRCm38)	missense	probably benign	0.00
R1127:Ptprn2	UTSW	12	117,212,008 (GRCm38)	splice site	probably null
R1443:Ptprn2	UTSW	12	117,253,615 (GRCm38)	missense	probably damaging	1.00
R1508:Ptprn2	UTSW	12	117,184,722 (GRCm38)	missense	probably damaging	1.00
R1664:Ptprn2	UTSW	12	117,161,709 (GRCm38)	missense	probably damaging	0.99
R1670:Ptprn2	UTSW	12	116,722,172 (GRCm38)	missense	possibly damaging	0.64
R1749:Ptprn2	UTSW	12	116,580,428 (GRCm38)	missense	probably benign	0.00
R2075:Ptprn2	UTSW	12	117,247,717 (GRCm38)	missense	probably benign	0.01
R3054:Ptprn2	UTSW	12	116,722,133 (GRCm38)	missense	probably damaging	1.00
R3107:Ptprn2	UTSW	12	116,876,180 (GRCm38)	missense	probably benign	0.04
R3109:Ptprn2	UTSW	12	116,876,180 (GRCm38)	missense	probably benign	0.04
R3552:Ptprn2	UTSW	12	116,888,877 (GRCm38)	missense	probably benign	0.00
R4193:Ptprn2	UTSW	12	116,901,008 (GRCm38)	missense	probably benign	0.01
R4523:Ptprn2	UTSW	12	116,876,000 (GRCm38)	missense	probably damaging	1.00
R4706:Ptprn2	UTSW	12	116,872,094 (GRCm38)	missense	probably benign	0.02
R4719:Ptprn2	UTSW	12	116,824,396 (GRCm38)	missense	possibly damaging	0.95
R4726:Ptprn2	UTSW	12	117,247,773 (GRCm38)	nonsense	probably null
R4872:Ptprn2	UTSW	12	117,161,694 (GRCm38)	missense	probably damaging	1.00
R4891:Ptprn2	UTSW	12	117,233,365 (GRCm38)	splice site	probably null
R4970:Ptprn2	UTSW	12	117,276,595 (GRCm38)	missense	probably damaging	1.00
R5208:Ptprn2	UTSW	12	116,858,928 (GRCm38)	missense	probably damaging	1.00
R5287:Ptprn2	UTSW	12	117,211,862 (GRCm38)	missense	probably damaging	1.00
R5419:Ptprn2	UTSW	12	117,184,647 (GRCm38)	missense	probably damaging	0.99
R6035:Ptprn2	UTSW	12	117,255,595 (GRCm38)	missense	probably damaging	1.00
R6035:Ptprn2	UTSW	12	117,255,595 (GRCm38)	missense	probably damaging	1.00
R6180:Ptprn2	UTSW	12	116,859,119 (GRCm38)	missense	probably benign	0.05
R6277:Ptprn2	UTSW	12	116,876,180 (GRCm38)	missense	probably benign	0.04
R6465:Ptprn2	UTSW	12	117,269,589 (GRCm38)	missense	probably damaging	0.96
R6488:Ptprn2	UTSW	12	116,872,038 (GRCm38)	missense	probably benign	0.13
R6555:Ptprn2	UTSW	12	117,227,200 (GRCm38)	missense	probably damaging	1.00
R6908:Ptprn2	UTSW	12	116,888,888 (GRCm38)	missense	probably benign	0.06
R7120:Ptprn2	UTSW	12	116,872,056 (GRCm38)	missense	probably benign	0.01
R7229:Ptprn2	UTSW	12	117,227,225 (GRCm38)	splice site	probably null
R7237:Ptprn2	UTSW	12	117,161,727 (GRCm38)	missense	probably benign	0.03
R7304:Ptprn2	UTSW	12	117,248,544 (GRCm38)	missense	probably damaging	1.00
R7355:Ptprn2	UTSW	12	116,858,951 (GRCm38)	missense	probably benign
R7460:Ptprn2	UTSW	12	117,248,681 (GRCm38)	missense	probably benign	0.05
R7577:Ptprn2	UTSW	12	116,485,866 (GRCm38)	start codon destroyed	probably null
R7666:Ptprn2	UTSW	12	116,841,320 (GRCm38)	missense	probably benign	0.10
R7924:Ptprn2	UTSW	12	116,841,264 (GRCm38)	missense	probably benign	0.00
R8219:Ptprn2	UTSW	12	117,184,737 (GRCm38)	missense	probably benign	0.30
R8716:Ptprn2	UTSW	12	117,255,548 (GRCm38)	missense	possibly damaging	0.73
R9235:Ptprn2	UTSW	12	117,269,651 (GRCm38)	critical splice donor site	probably null
R9605:Ptprn2	UTSW	12	117,161,658 (GRCm38)	missense	probably benign	0.13
X0066:Ptprn2	UTSW	12	117,184,740 (GRCm38)	missense	probably benign	0.16
X0066:Ptprn2	UTSW	12	117,161,760 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGTGCACATTTCTGGGTG -3'
(R):5'- TCCTGAGTCCACACATCTAATGC -3'

Sequencing Primer
(F):5'- GTTTCTTCTGAGTTACAGTGCTC -3'
(R):5'- GCAAAGCCTTTCTTACTACAGG -3'

Posted On

2019-11-12