Mutagenetix > Incidental Mutation

Incidental Mutation 'R1106:Ptprz1'

98471

Institutional Source

Beutler Lab

Gene Symbol

Ptprz1

Ensembl Gene

ENSMUSG00000068748

Gene Name

protein tyrosine phosphatase receptor type Z, polypeptide 1

Synonyms

DSD-1-PG, phosphacan, Ptprz, Ptpz, PTPzeta, Rptpbeta, RPTPz, PTPbeta

MMRRC Submission

039179-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.715) question?

Stock #

R1106 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22875501-23052915 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22965748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 192 (D192G)

Ref Sequence

ENSEMBL: ENSMUSP00000088056 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090568] [ENSMUST00000202102] [ENSMUST00000202579]

AlphaFold

B9EKR1

Predicted Effect

probably damaging
Transcript: ENSMUST00000090568
AA Change: D192G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000088056
Gene: ENSMUSG00000068748
AA Change: D192G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Carb_anhydrase	38	300	5.12e-99	SMART
FN3	312	397	5.53e-4	SMART
low complexity region	588	609	N/A	INTRINSIC
low complexity region	825	837	N/A	INTRINSIC
low complexity region	1417	1441	N/A	INTRINSIC
low complexity region	1485	1495	N/A	INTRINSIC
Blast:PTPc	1497	1573	1e-12	BLAST
low complexity region	1606	1620	N/A	INTRINSIC
transmembrane domain	1637	1659	N/A	INTRINSIC
low complexity region	1679	1693	N/A	INTRINSIC
PTPc	1720	1991	2.8e-130	SMART
PTPc	2019	2281	1.65e-77	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000202102
AA Change: D192G

SMART Domains

Protein: ENSMUSP00000143902
Gene: ENSMUSG00000068748
AA Change: D192G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Carb_anhydrase	38	300	5.12e-99	SMART
FN3	312	397	5.53e-4	SMART
low complexity region	588	609	N/A	INTRINSIC
transmembrane domain	788	810	N/A	INTRINSIC
low complexity region	830	844	N/A	INTRINSIC
PTPc	871	1142	2.8e-130	SMART
PTPc	1170	1432	1.65e-77	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202579
AA Change: D192G

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000144605
Gene: ENSMUSG00000068748
AA Change: D192G

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Carb_anhydrase	38	300	4e-103	SMART
FN3	312	397	2.8e-6	SMART
low complexity region	588	609	N/A	INTRINSIC
low complexity region	825	837	N/A	INTRINSIC
low complexity region	1417	1441	N/A	INTRINSIC
low complexity region	1485	1495	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the receptor protein tyrosine phosphatase family. Expression of this gene is restricted to the central nervous system (CNS), and it may be involved in the regulation of specific developmental processes in the CNS. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for targeted null mutations demonstrate an impaired ability to recover from inflamatory lesions of the CNS or gastric mucosa. Mice homozygous for a knock-out allele exhibit increased tactile and thermal nociception thresholds. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asic5	C	A	3: 81,911,897 (GRCm39)	F122L	probably damaging	Het
Caml	A	G	13: 55,772,538 (GRCm39)	T61A	probably benign	Het
Cfap20	A	T	8: 96,147,873 (GRCm39)	I156N	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Dio2	A	G	12: 90,704,985 (GRCm39)	L25P	probably damaging	Het
Eps8	G	A	6: 137,491,322 (GRCm39)	P352L	probably damaging	Het
Gnai2	A	G	9: 107,497,385 (GRCm39)	I3T	probably damaging	Het
Hexim2	T	C	11: 103,029,319 (GRCm39)	S124P	probably damaging	Het
Klk1b16	C	T	7: 43,788,937 (GRCm39)	R57C	probably damaging	Het
Mier3	A	T	13: 111,844,763 (GRCm39)	D205V	probably damaging	Het
Or2y14	A	G	11: 49,404,519 (GRCm39)	D18G	probably damaging	Het
Or4c102	T	C	2: 88,422,355 (GRCm39)	V69A	probably benign	Het
Samd3	G	A	10: 26,147,689 (GRCm39)	V455M	possibly damaging	Het
Slc9c1	C	A	16: 45,376,170 (GRCm39)	Q419K	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tas2r139	A	G	6: 42,118,479 (GRCm39)	T204A	probably benign	Het
Ush2a	G	A	1: 188,643,180 (GRCm39)	E4181K	possibly damaging	Het
Vps37a	T	A	8: 40,965,247 (GRCm39)	I33N	probably damaging	Het
Zfp335	TTGCTGCTGCTGCTGCTGCT	TTGCTGCTGCTGCTGCT	2: 164,749,471 (GRCm39)		probably benign	Het
Zik1	G	A	7: 10,224,312 (GRCm39)	R262C	probably damaging	Het

Other mutations in Ptprz1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00486:Ptprz1	APN	6	22,973,053 (GRCm39)	missense	probably damaging	1.00
IGL00773:Ptprz1	APN	6	23,002,628 (GRCm39)	missense	probably benign	0.41
IGL01458:Ptprz1	APN	6	22,972,843 (GRCm39)	missense	probably damaging	0.99
IGL01481:Ptprz1	APN	6	22,999,979 (GRCm39)	missense	probably benign	0.05
IGL01501:Ptprz1	APN	6	22,973,081 (GRCm39)	missense	probably damaging	1.00
IGL01601:Ptprz1	APN	6	23,000,437 (GRCm39)	missense	probably damaging	0.99
IGL01882:Ptprz1	APN	6	23,000,463 (GRCm39)	missense	probably damaging	1.00
IGL02058:Ptprz1	APN	6	23,002,502 (GRCm39)	missense	probably benign	0.00
IGL02089:Ptprz1	APN	6	23,033,447 (GRCm39)	missense	probably damaging	1.00
IGL02136:Ptprz1	APN	6	22,972,821 (GRCm39)	missense	probably damaging	1.00
IGL02215:Ptprz1	APN	6	22,965,181 (GRCm39)	missense	possibly damaging	0.91
IGL02220:Ptprz1	APN	6	23,042,742 (GRCm39)	splice site	probably benign
IGL02556:Ptprz1	APN	6	22,972,844 (GRCm39)	missense	probably benign	0.01
IGL02601:Ptprz1	APN	6	23,000,686 (GRCm39)	missense	probably benign	0.11
IGL02620:Ptprz1	APN	6	22,959,739 (GRCm39)	missense	probably damaging	1.00
IGL02666:Ptprz1	APN	6	23,001,209 (GRCm39)	missense	probably benign	0.00
IGL02718:Ptprz1	APN	6	23,001,348 (GRCm39)	missense	possibly damaging	0.77
IGL02792:Ptprz1	APN	6	22,959,722 (GRCm39)	missense	probably damaging	1.00
IGL02894:Ptprz1	APN	6	23,035,148 (GRCm39)	missense	probably damaging	1.00
IGL02952:Ptprz1	APN	6	23,036,925 (GRCm39)	missense	probably damaging	1.00
IGL03003:Ptprz1	APN	6	23,002,582 (GRCm39)	missense	probably damaging	0.98
IGL03060:Ptprz1	APN	6	22,972,834 (GRCm39)	missense	probably damaging	1.00
IGL03170:Ptprz1	APN	6	22,959,766 (GRCm39)	missense	probably benign	0.00
IGL03246:Ptprz1	APN	6	22,986,159 (GRCm39)	missense	probably damaging	0.99
IGL03349:Ptprz1	APN	6	23,000,331 (GRCm39)	missense	probably damaging	1.00
IGL03365:Ptprz1	APN	6	23,030,581 (GRCm39)	splice site	probably benign
Elevator	UTSW	6	23,030,661 (GRCm39)	missense	probably benign	0.03
escalator	UTSW	6	22,986,187 (GRCm39)	missense	probably damaging	1.00
R0044:Ptprz1	UTSW	6	23,007,402 (GRCm39)	missense	probably damaging	1.00
R0054:Ptprz1	UTSW	6	22,986,195 (GRCm39)	missense	probably damaging	1.00
R0054:Ptprz1	UTSW	6	22,986,195 (GRCm39)	missense	probably damaging	1.00
R0107:Ptprz1	UTSW	6	23,000,569 (GRCm39)	missense	probably damaging	0.98
R0278:Ptprz1	UTSW	6	23,000,816 (GRCm39)	missense	probably benign	0.31
R0345:Ptprz1	UTSW	6	23,016,164 (GRCm39)	missense	probably damaging	1.00
R0359:Ptprz1	UTSW	6	22,973,175 (GRCm39)	splice site	probably benign
R0743:Ptprz1	UTSW	6	23,044,366 (GRCm39)	nonsense	probably null
R1014:Ptprz1	UTSW	6	23,000,643 (GRCm39)	missense	probably damaging	1.00
R1016:Ptprz1	UTSW	6	23,000,973 (GRCm39)	missense	probably damaging	1.00
R1391:Ptprz1	UTSW	6	23,001,728 (GRCm39)	missense	probably benign	0.33
R1424:Ptprz1	UTSW	6	23,000,382 (GRCm39)	missense	probably benign	0.00
R1445:Ptprz1	UTSW	6	23,050,473 (GRCm39)	missense	probably damaging	1.00
R1496:Ptprz1	UTSW	6	23,049,523 (GRCm39)	splice site	probably benign
R1544:Ptprz1	UTSW	6	23,000,747 (GRCm39)	missense	possibly damaging	0.63
R1626:Ptprz1	UTSW	6	23,001,573 (GRCm39)	missense	probably benign
R1641:Ptprz1	UTSW	6	23,049,605 (GRCm39)	missense	probably damaging	1.00
R1757:Ptprz1	UTSW	6	23,044,319 (GRCm39)	missense	probably damaging	1.00
R1812:Ptprz1	UTSW	6	22,959,711 (GRCm39)	missense	probably benign	0.07
R1917:Ptprz1	UTSW	6	23,035,039 (GRCm39)	splice site	probably benign
R1930:Ptprz1	UTSW	6	23,007,354 (GRCm39)	missense	probably damaging	1.00
R1931:Ptprz1	UTSW	6	23,007,354 (GRCm39)	missense	probably damaging	1.00
R1974:Ptprz1	UTSW	6	22,986,310 (GRCm39)	missense	probably damaging	1.00
R1992:Ptprz1	UTSW	6	22,959,747 (GRCm39)	missense	probably benign	0.24
R1997:Ptprz1	UTSW	6	23,050,496 (GRCm39)	missense	probably damaging	0.99
R2002:Ptprz1	UTSW	6	23,027,833 (GRCm39)	nonsense	probably null
R2012:Ptprz1	UTSW	6	23,001,026 (GRCm39)	missense	probably benign	0.03
R2059:Ptprz1	UTSW	6	22,986,322 (GRCm39)	splice site	probably benign
R2061:Ptprz1	UTSW	6	23,049,674 (GRCm39)	critical splice donor site	probably null
R2064:Ptprz1	UTSW	6	23,050,388 (GRCm39)	splice site	probably benign
R2067:Ptprz1	UTSW	6	23,050,388 (GRCm39)	splice site	probably benign
R2108:Ptprz1	UTSW	6	23,033,476 (GRCm39)	missense	probably damaging	0.99
R2152:Ptprz1	UTSW	6	23,030,670 (GRCm39)	missense	probably damaging	0.99
R2166:Ptprz1	UTSW	6	23,045,632 (GRCm39)	missense	possibly damaging	0.90
R2183:Ptprz1	UTSW	6	23,002,284 (GRCm39)	missense	probably benign
R2202:Ptprz1	UTSW	6	23,000,649 (GRCm39)	missense	possibly damaging	0.63
R2238:Ptprz1	UTSW	6	22,987,376 (GRCm39)	missense	probably damaging	1.00
R2290:Ptprz1	UTSW	6	23,000,990 (GRCm39)	missense	probably damaging	1.00
R3027:Ptprz1	UTSW	6	23,016,196 (GRCm39)	missense	possibly damaging	0.89
R3861:Ptprz1	UTSW	6	23,036,894 (GRCm39)	missense	probably damaging	0.98
R4012:Ptprz1	UTSW	6	23,002,584 (GRCm39)	missense	probably damaging	0.99
R4020:Ptprz1	UTSW	6	22,959,623 (GRCm39)	splice site	probably benign
R4158:Ptprz1	UTSW	6	23,022,204 (GRCm39)	missense	possibly damaging	0.73
R4158:Ptprz1	UTSW	6	23,001,683 (GRCm39)	nonsense	probably null
R4159:Ptprz1	UTSW	6	23,001,683 (GRCm39)	nonsense	probably null
R4160:Ptprz1	UTSW	6	23,022,204 (GRCm39)	missense	possibly damaging	0.73
R4606:Ptprz1	UTSW	6	23,001,486 (GRCm39)	missense	possibly damaging	0.80
R4621:Ptprz1	UTSW	6	23,001,453 (GRCm39)	missense	possibly damaging	0.68
R4640:Ptprz1	UTSW	6	22,972,797 (GRCm39)	missense	probably damaging	1.00
R4731:Ptprz1	UTSW	6	23,002,609 (GRCm39)	missense	probably benign	0.06
R4732:Ptprz1	UTSW	6	23,002,609 (GRCm39)	missense	probably benign	0.06
R4733:Ptprz1	UTSW	6	23,002,609 (GRCm39)	missense	probably benign	0.06
R4803:Ptprz1	UTSW	6	23,001,545 (GRCm39)	missense	probably benign	0.00
R4890:Ptprz1	UTSW	6	23,024,957 (GRCm39)	missense	probably damaging	1.00
R5035:Ptprz1	UTSW	6	23,016,214 (GRCm39)	missense	probably benign	0.06
R5052:Ptprz1	UTSW	6	23,045,625 (GRCm39)	missense	probably damaging	1.00
R5106:Ptprz1	UTSW	6	23,000,027 (GRCm39)	missense	probably benign	0.04
R5248:Ptprz1	UTSW	6	23,001,900 (GRCm39)	missense	probably benign	0.11
R5292:Ptprz1	UTSW	6	23,002,581 (GRCm39)	missense	probably benign	0.31
R5373:Ptprz1	UTSW	6	23,007,354 (GRCm39)	missense	probably damaging	1.00
R5374:Ptprz1	UTSW	6	23,007,354 (GRCm39)	missense	probably damaging	1.00
R5378:Ptprz1	UTSW	6	23,007,401 (GRCm39)	missense	probably damaging	1.00
R5408:Ptprz1	UTSW	6	23,002,599 (GRCm39)	missense	probably damaging	1.00
R5479:Ptprz1	UTSW	6	23,001,665 (GRCm39)	missense	probably benign
R5524:Ptprz1	UTSW	6	22,986,317 (GRCm39)	splice site	probably null
R5527:Ptprz1	UTSW	6	23,000,052 (GRCm39)	missense	possibly damaging	0.66
R5557:Ptprz1	UTSW	6	23,001,000 (GRCm39)	missense	probably benign	0.04
R5654:Ptprz1	UTSW	6	22,986,133 (GRCm39)	missense	probably damaging	1.00
R5655:Ptprz1	UTSW	6	22,999,772 (GRCm39)	missense	probably benign	0.00
R5658:Ptprz1	UTSW	6	23,016,188 (GRCm39)	missense	probably damaging	1.00
R5663:Ptprz1	UTSW	6	23,035,142 (GRCm39)	missense	probably damaging	1.00
R5765:Ptprz1	UTSW	6	23,000,235 (GRCm39)	missense	probably damaging	1.00
R5822:Ptprz1	UTSW	6	23,001,444 (GRCm39)	missense	probably benign	0.01
R5837:Ptprz1	UTSW	6	23,001,417 (GRCm39)	missense	probably benign	0.00
R6108:Ptprz1	UTSW	6	23,045,658 (GRCm39)	missense	probably damaging	1.00
R6199:Ptprz1	UTSW	6	23,002,470 (GRCm39)	missense	probably benign	0.01
R6245:Ptprz1	UTSW	6	23,051,989 (GRCm39)	missense	probably damaging	1.00
R6257:Ptprz1	UTSW	6	22,959,639 (GRCm39)	missense	probably damaging	1.00
R6488:Ptprz1	UTSW	6	23,001,516 (GRCm39)	nonsense	probably null
R6606:Ptprz1	UTSW	6	23,002,500 (GRCm39)	missense	probably benign	0.27
R6612:Ptprz1	UTSW	6	23,052,081 (GRCm39)	missense	probably damaging	1.00
R6824:Ptprz1	UTSW	6	23,002,130 (GRCm39)	missense	probably benign	0.05
R6834:Ptprz1	UTSW	6	22,999,632 (GRCm39)	missense	probably benign	0.38
R6836:Ptprz1	UTSW	6	23,030,664 (GRCm39)	nonsense	probably null
R6991:Ptprz1	UTSW	6	23,002,686 (GRCm39)	missense	probably benign	0.00
R7044:Ptprz1	UTSW	6	23,044,345 (GRCm39)	missense	probably damaging	1.00
R7048:Ptprz1	UTSW	6	22,961,622 (GRCm39)	missense	probably benign	0.18
R7225:Ptprz1	UTSW	6	23,000,928 (GRCm39)	missense	possibly damaging	0.61
R7284:Ptprz1	UTSW	6	23,000,097 (GRCm39)	missense	probably damaging	1.00
R7360:Ptprz1	UTSW	6	23,000,906 (GRCm39)	missense	probably damaging	1.00
R7501:Ptprz1	UTSW	6	23,001,746 (GRCm39)	nonsense	probably null
R7515:Ptprz1	UTSW	6	23,022,266 (GRCm39)	missense	probably damaging	1.00
R7538:Ptprz1	UTSW	6	22,999,895 (GRCm39)	missense	possibly damaging	0.81
R7567:Ptprz1	UTSW	6	22,959,779 (GRCm39)	missense	probably damaging	0.97
R7599:Ptprz1	UTSW	6	23,002,518 (GRCm39)	missense	not run
R7611:Ptprz1	UTSW	6	23,001,219 (GRCm39)	missense	probably benign
R7685:Ptprz1	UTSW	6	23,024,977 (GRCm39)	missense	probably damaging	1.00
R7707:Ptprz1	UTSW	6	23,002,295 (GRCm39)	missense	probably benign	0.00
R7733:Ptprz1	UTSW	6	23,000,383 (GRCm39)	missense	probably benign	0.31
R7786:Ptprz1	UTSW	6	23,036,992 (GRCm39)	missense	probably damaging	1.00
R7868:Ptprz1	UTSW	6	23,000,963 (GRCm39)	missense	not run
R7882:Ptprz1	UTSW	6	23,002,256 (GRCm39)	missense	probably benign	0.13
R7968:Ptprz1	UTSW	6	22,959,675 (GRCm39)	missense	probably damaging	0.98
R8024:Ptprz1	UTSW	6	23,042,750 (GRCm39)	missense	probably damaging	1.00
R8157:Ptprz1	UTSW	6	23,002,539 (GRCm39)	missense	probably damaging	1.00
R8159:Ptprz1	UTSW	6	23,001,662 (GRCm39)	missense	probably benign
R8354:Ptprz1	UTSW	6	22,999,614 (GRCm39)	missense	probably damaging	0.99
R8496:Ptprz1	UTSW	6	22,972,797 (GRCm39)	missense	probably damaging	0.96
R8757:Ptprz1	UTSW	6	22,972,716 (GRCm39)	missense	possibly damaging	0.74
R8767:Ptprz1	UTSW	6	22,986,187 (GRCm39)	missense	probably damaging	1.00
R8783:Ptprz1	UTSW	6	23,002,026 (GRCm39)	missense	probably benign	0.00
R8811:Ptprz1	UTSW	6	23,030,661 (GRCm39)	missense	probably benign	0.03
R8817:Ptprz1	UTSW	6	23,007,371 (GRCm39)	missense	probably damaging	1.00
R8822:Ptprz1	UTSW	6	23,002,588 (GRCm39)	missense	probably damaging	0.98
R8874:Ptprz1	UTSW	6	23,042,747 (GRCm39)	missense
R9009:Ptprz1	UTSW	6	23,001,653 (GRCm39)	missense	possibly damaging	0.94
R9126:Ptprz1	UTSW	6	23,002,334 (GRCm39)	nonsense	probably null
R9201:Ptprz1	UTSW	6	22,972,869 (GRCm39)	critical splice donor site	probably null
R9210:Ptprz1	UTSW	6	23,050,493 (GRCm39)	missense	probably damaging	0.99
R9212:Ptprz1	UTSW	6	23,050,493 (GRCm39)	missense	probably damaging	0.99
R9229:Ptprz1	UTSW	6	22,986,283 (GRCm39)	missense	probably null	0.03
R9279:Ptprz1	UTSW	6	23,002,444 (GRCm39)	missense	probably benign
R9336:Ptprz1	UTSW	6	23,000,855 (GRCm39)	missense	probably benign	0.01
R9372:Ptprz1	UTSW	6	23,045,706 (GRCm39)	missense	probably damaging	1.00
R9577:Ptprz1	UTSW	6	23,002,202 (GRCm39)	missense	probably damaging	1.00
R9594:Ptprz1	UTSW	6	23,025,026 (GRCm39)	missense	probably damaging	0.98
R9632:Ptprz1	UTSW	6	23,007,292 (GRCm39)	missense	probably damaging	1.00
R9636:Ptprz1	UTSW	6	22,999,994 (GRCm39)	missense	probably benign
R9657:Ptprz1	UTSW	6	23,042,377 (GRCm39)	missense	possibly damaging	0.92
R9694:Ptprz1	UTSW	6	22,959,694 (GRCm39)	missense	probably damaging	1.00
R9716:Ptprz1	UTSW	6	22,959,650 (GRCm39)	missense	probably damaging	1.00
R9794:Ptprz1	UTSW	6	23,000,204 (GRCm39)	missense	probably benign	0.00
Z1176:Ptprz1	UTSW	6	23,051,994 (GRCm39)	missense	probably damaging	0.99
Z1177:Ptprz1	UTSW	6	23,052,023 (GRCm39)	missense	probably damaging	1.00
Z1177:Ptprz1	UTSW	6	22,999,839 (GRCm39)	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- GCTTTGATGCGGACAGATTTTCCAG -3'
(R):5'- GCATGTGAAGCGAGATATGCTCATCTTT -3'

Sequencing Primer
(F):5'- CATTTCCAAGAAGGCTGGTATG -3'
(R):5'- GCGAGATATGCTCATCTTTAAAAAC -3'

Posted On

2014-01-05