Mutagenetix > Incidental Mutation

Incidental Mutation 'R0683:Ptprs'

61059

Institutional Source

Beutler Lab

Gene Symbol

Ptprs

Ensembl Gene

ENSMUSG00000013236

Gene Name

protein tyrosine phosphatase receptor type S

Synonyms

Ptpt9, PTPsigma, PTP-NU3, RPTPsigma

MMRRC Submission

038868-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0683 (G1)

Quality Score

101

Status

Not validated

Chromosome

Chromosomal Location

56719426-56783480 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56721086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 1385 (V1385D)

Ref Sequence

ENSEMBL: ENSMUSP00000153134 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067538] [ENSMUST00000086828] [ENSMUST00000223859]

AlphaFold

B0V2N1

Predicted Effect

probably damaging
Transcript: ENSMUST00000067538
AA Change: V1795D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000064048
Gene: ENSMUSG00000013236
AA Change: V1795D

Domain	Start	End	E-Value	Type
low complexity region	6	23	N/A	INTRINSIC
IGc2	45	114	3.38e-10	SMART
IGc2	147	214	2.4e-15	SMART
IGc2	244	305	8.26e-5	SMART
FN3	319	398	2.8e-14	SMART
FN3	414	497	3.24e-10	SMART
FN3	512	590	3.17e-13	SMART
FN3	605	692	9.69e-9	SMART
FN3	707	796	2.42e-9	SMART
FN3	811	890	2.22e0	SMART
FN3	905	995	8.31e-8	SMART
FN3	1009	1085	3.22e-5	SMART
low complexity region	1164	1177	N/A	INTRINSIC
transmembrane domain	1259	1281	N/A	INTRINSIC
PTPc	1351	1609	1.54e-136	SMART
PTPc	1638	1900	3.12e-128	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000086828
AA Change: V1389D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000084038
Gene: ENSMUSG00000013236
AA Change: V1389D

Domain	Start	End	E-Value	Type
low complexity region	6	23	N/A	INTRINSIC
IGc2	45	114	3.38e-10	SMART
IGc2	147	214	2.4e-15	SMART
IGc2	244	305	8.26e-5	SMART
FN3	319	398	2.8e-14	SMART
FN3	414	497	3.24e-10	SMART
FN3	512	590	3.17e-13	SMART
FN3	603	679	2.54e-3	SMART
low complexity region	758	771	N/A	INTRINSIC
transmembrane domain	853	875	N/A	INTRINSIC
PTPc	945	1203	1.54e-136	SMART
PTPc	1232	1494	3.12e-128	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184960

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223685

Predicted Effect

probably damaging
Transcript: ENSMUST00000223859
AA Change: V1385D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224522

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.5%

Validation Efficiency

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 extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of multiple Ig-like and fibronectin type III-like domains. Studies of the similar gene in mice suggested that this PTP may be involved in cell-cell interaction, primary axonogenesis, and axon guidance during embryogenesis. This PTP has been also implicated in the molecular control of adult nerve repair. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Almost half of null homozygotes die in the first day of life. Embryos are characterized by decreased brain size including small pituitary glands and small olfactory bulbs. Adult mice are small, lack estrus, have decreased litter sizes and have impairedolfaction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	T	C	4: 132,792,827 (GRCm39)	F1356S	possibly damaging	Het
Atg16l2	T	C	7: 100,939,591 (GRCm39)	D533G	probably damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Eif3i	G	T	4: 129,487,328 (GRCm39)	N162K	probably benign	Het
Exoc8	A	G	8: 125,622,372 (GRCm39)	I665T	probably damaging	Het
Ggt7	A	G	2: 155,348,428 (GRCm39)	S75P	probably benign	Het
Gjd3	A	T	11: 102,691,237 (GRCm39)	F255L	probably benign	Het
Krt1	A	G	15: 101,758,901 (GRCm39)	F88L	unknown	Het
Maml3	G	A	3: 51,764,173 (GRCm39)	Q264*	probably null	Het
Ncoa4-ps	T	C	12: 119,224,813 (GRCm39)		noncoding transcript	Het
Neu1	A	T	17: 35,153,301 (GRCm39)		probably null	Het
Nrp2	A	G	1: 62,783,477 (GRCm39)	T193A	probably benign	Het
Or4c12b	C	G	2: 89,647,522 (GRCm39)	P278R	probably damaging	Het
P4ha1	A	G	10: 59,172,969 (GRCm39)	T23A	probably benign	Het
Pgm1	A	G	4: 99,818,740 (GRCm39)	I112V	probably damaging	Het
Rasal2	A	G	1: 157,006,779 (GRCm39)	S111P	probably damaging	Het
Serpinb13	A	G	1: 106,926,751 (GRCm39)	N249S	probably damaging	Het
Sh3pxd2a	T	C	19: 47,255,950 (GRCm39)	T923A	probably benign	Het
Speg	G	A	1: 75,405,762 (GRCm39)	A2989T	probably damaging	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Tcp11l1	A	T	2: 104,512,237 (GRCm39)	V465E	possibly damaging	Het
Ttn	G	A	2: 76,768,653 (GRCm39)	T2973I	unknown	Het
Vav3	C	A	3: 109,559,129 (GRCm39)	Q110K	probably benign	Het
Xcr1	T	C	9: 123,684,940 (GRCm39)	D274G	probably benign	Het
Zfp763	G	A	17: 33,237,892 (GRCm39)	P418S	probably damaging	Het

Other mutations in Ptprs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:Ptprs	APN	17	56,765,243 (GRCm39)	missense	probably damaging	0.99
IGL01388:Ptprs	APN	17	56,728,261 (GRCm39)	missense	probably damaging	1.00
IGL01568:Ptprs	APN	17	56,720,958 (GRCm39)	missense	probably damaging	1.00
IGL01781:Ptprs	APN	17	56,742,676 (GRCm39)	missense	probably damaging	1.00
IGL02499:Ptprs	APN	17	56,744,884 (GRCm39)	missense	probably damaging	1.00
IGL02576:Ptprs	APN	17	56,721,958 (GRCm39)	missense	probably damaging	1.00
IGL02736:Ptprs	APN	17	56,765,248 (GRCm39)	missense	possibly damaging	0.88
IGL02871:Ptprs	APN	17	56,754,443 (GRCm39)	missense	probably damaging	1.00
IGL02946:Ptprs	APN	17	56,731,032 (GRCm39)	missense	probably benign
IGL03061:Ptprs	APN	17	56,725,830 (GRCm39)	missense	probably damaging	0.96
IGL03347:Ptprs	APN	17	56,742,972 (GRCm39)	missense	probably benign	0.07
IGL03351:Ptprs	APN	17	56,744,943 (GRCm39)	missense	probably damaging	1.00
P0019:Ptprs	UTSW	17	56,754,474 (GRCm39)	splice site	probably benign
PIT4434001:Ptprs	UTSW	17	56,761,984 (GRCm39)	missense	probably null	0.02
PIT4520001:Ptprs	UTSW	17	56,721,980 (GRCm39)	missense	probably damaging	1.00
R0240:Ptprs	UTSW	17	56,743,087 (GRCm39)	splice site	probably null
R0240:Ptprs	UTSW	17	56,743,087 (GRCm39)	splice site	probably null
R0504:Ptprs	UTSW	17	56,761,220 (GRCm39)	missense	possibly damaging	0.60
R0518:Ptprs	UTSW	17	56,726,621 (GRCm39)	critical splice donor site	probably null
R0539:Ptprs	UTSW	17	56,765,255 (GRCm39)	missense	probably damaging	0.97
R0620:Ptprs	UTSW	17	56,736,103 (GRCm39)	missense	possibly damaging	0.93
R1147:Ptprs	UTSW	17	56,730,504 (GRCm39)	missense	probably damaging	1.00
R1147:Ptprs	UTSW	17	56,730,504 (GRCm39)	missense	probably damaging	1.00
R1474:Ptprs	UTSW	17	56,731,128 (GRCm39)	missense	probably damaging	0.98
R1502:Ptprs	UTSW	17	56,744,992 (GRCm39)	missense	probably benign	0.00
R1817:Ptprs	UTSW	17	56,726,527 (GRCm39)	missense	probably damaging	1.00
R1844:Ptprs	UTSW	17	56,741,510 (GRCm39)	missense	probably damaging	1.00
R2077:Ptprs	UTSW	17	56,741,990 (GRCm39)	missense	probably null	0.26
R2086:Ptprs	UTSW	17	56,761,984 (GRCm39)	missense	probably null	0.02
R2149:Ptprs	UTSW	17	56,724,706 (GRCm39)	missense	probably damaging	1.00
R3618:Ptprs	UTSW	17	56,735,965 (GRCm39)	missense	probably benign	0.25
R3722:Ptprs	UTSW	17	56,724,485 (GRCm39)	missense	probably damaging	1.00
R3771:Ptprs	UTSW	17	56,735,978 (GRCm39)	missense	possibly damaging	0.58
R3772:Ptprs	UTSW	17	56,735,978 (GRCm39)	missense	possibly damaging	0.58
R3773:Ptprs	UTSW	17	56,735,978 (GRCm39)	missense	possibly damaging	0.58
R4032:Ptprs	UTSW	17	56,720,386 (GRCm39)	missense	probably damaging	1.00
R4326:Ptprs	UTSW	17	56,754,468 (GRCm39)	missense	possibly damaging	0.83
R4327:Ptprs	UTSW	17	56,754,468 (GRCm39)	missense	possibly damaging	0.83
R4480:Ptprs	UTSW	17	56,733,404 (GRCm39)	missense	possibly damaging	0.79
R4505:Ptprs	UTSW	17	56,758,678 (GRCm39)	missense	possibly damaging	0.57
R4507:Ptprs	UTSW	17	56,726,014 (GRCm39)	missense	probably damaging	1.00
R4588:Ptprs	UTSW	17	56,732,534 (GRCm39)	missense	probably damaging	1.00
R4662:Ptprs	UTSW	17	56,724,666 (GRCm39)	missense	probably damaging	1.00
R4708:Ptprs	UTSW	17	56,735,067 (GRCm39)	missense	probably damaging	1.00
R5016:Ptprs	UTSW	17	56,726,070 (GRCm39)	missense	probably damaging	1.00
R5416:Ptprs	UTSW	17	56,742,724 (GRCm39)	missense	probably damaging	1.00
R5447:Ptprs	UTSW	17	56,736,128 (GRCm39)	missense	possibly damaging	0.50
R6041:Ptprs	UTSW	17	56,726,080 (GRCm39)	missense	probably benign	0.00
R6329:Ptprs	UTSW	17	56,724,427 (GRCm39)	nonsense	probably null
R6377:Ptprs	UTSW	17	56,725,935 (GRCm39)	missense	probably damaging	1.00
R6605:Ptprs	UTSW	17	56,729,195 (GRCm39)	missense	probably damaging	1.00
R6749:Ptprs	UTSW	17	56,744,884 (GRCm39)	missense	probably damaging	1.00
R7113:Ptprs	UTSW	17	56,758,697 (GRCm39)	missense	probably benign	0.40
R7114:Ptprs	UTSW	17	56,758,697 (GRCm39)	missense	probably benign	0.40
R7133:Ptprs	UTSW	17	56,724,429 (GRCm39)	missense	probably damaging	1.00
R7220:Ptprs	UTSW	17	56,725,988 (GRCm39)	missense	probably benign	0.29
R7423:Ptprs	UTSW	17	56,721,793 (GRCm39)	missense	probably damaging	1.00
R7440:Ptprs	UTSW	17	56,731,256 (GRCm39)	missense	possibly damaging	0.75
R7457:Ptprs	UTSW	17	56,726,502 (GRCm39)	missense	probably damaging	0.99
R7574:Ptprs	UTSW	17	56,730,538 (GRCm39)	missense	probably benign	0.00
R7851:Ptprs	UTSW	17	56,732,482 (GRCm39)	missense	probably benign
R7903:Ptprs	UTSW	17	56,731,960 (GRCm39)	nonsense	probably null
R8013:Ptprs	UTSW	17	56,742,994 (GRCm39)	missense	probably damaging	1.00
R8014:Ptprs	UTSW	17	56,742,994 (GRCm39)	missense	probably damaging	1.00
R8094:Ptprs	UTSW	17	56,735,947 (GRCm39)	missense	probably benign	0.01
R8112:Ptprs	UTSW	17	56,741,532 (GRCm39)	nonsense	probably null
R8181:Ptprs	UTSW	17	56,736,064 (GRCm39)	missense	probably damaging	1.00
R8511:Ptprs	UTSW	17	56,754,440 (GRCm39)	missense	probably damaging	1.00
R8682:Ptprs	UTSW	17	56,742,849 (GRCm39)	missense	probably damaging	0.98
R8875:Ptprs	UTSW	17	56,742,946 (GRCm39)	missense	probably damaging	1.00
R8911:Ptprs	UTSW	17	56,730,320 (GRCm39)	missense	probably benign	0.07
R8970:Ptprs	UTSW	17	56,730,353 (GRCm39)	missense	possibly damaging	0.94
R9117:Ptprs	UTSW	17	56,742,853 (GRCm39)	missense	possibly damaging	0.84
R9297:Ptprs	UTSW	17	56,765,257 (GRCm39)	missense	probably damaging	0.96
R9539:Ptprs	UTSW	17	56,725,715 (GRCm39)	missense	probably benign	0.09
R9803:Ptprs	UTSW	17	56,729,217 (GRCm39)	missense	probably damaging	1.00
RF014:Ptprs	UTSW	17	56,723,935 (GRCm39)	missense	probably damaging	1.00
X0028:Ptprs	UTSW	17	56,744,831 (GRCm39)	missense	probably damaging	1.00
Z1176:Ptprs	UTSW	17	56,741,468 (GRCm39)	missense	possibly damaging	0.66
Z1176:Ptprs	UTSW	17	56,729,211 (GRCm39)	nonsense	probably null
Z1176:Ptprs	UTSW	17	56,724,050 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- AGCACGATGCTCAGGGTGATGAAC -3'
(R):5'- CATAGTCAGATGAATGGGCAGCCAG -3'

Sequencing Primer
(F):5'- TCAGGGTGATGAACACTCCG -3'
(R):5'- GGGCAGCCAGCATCAATG -3'

Posted On

2013-07-30