Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01337:Ptprf'

74681

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptprf

Ensembl Gene

ENSMUSG00000033295

Gene Name

protein tyrosine phosphatase receptor type F

Synonyms

RPTP-LAR, LAR

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.657) question?

Stock #

IGL01337

Quality Score

Status

Chromosome

Chromosomal Location

118065410-118148602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118093488 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 385 (Y385H)

Ref Sequence

ENSEMBL: ENSMUSP00000039368 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049074] [ENSMUST00000222620]

AlphaFold

A2A8L5

PDB Structure

Tandem Ig domains of tyrosine phosphatase LAR [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000049074
AA Change: Y385H

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

SMART Domains

Protein: ENSMUSP00000039368
Gene: ENSMUSG00000033295
AA Change: Y385H

Domain	Start	End	E-Value	Type
IGc2	45	114	2.64e-12	SMART
IGc2	147	214	1.48e-15	SMART
IG	238	316	1.06e-11	SMART
FN3	319	398	6.9e-14	SMART
FN3	414	497	5.73e-11	SMART
FN3	512	591	4.06e-11	SMART
FN3	606	693	8.69e-11	SMART
FN3	709	797	8.83e-12	SMART
FN3	812	892	3.2e-9	SMART
FN3	907	988	2.53e-12	SMART
FN3	1003	1079	3.48e-1	SMART
coiled coil region	1146	1175	N/A	INTRINSIC
transmembrane domain	1253	1275	N/A	INTRINSIC
PTPc	1342	1600	1.12e-138	SMART
PTPc	1629	1891	3.4e-129	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124758

SMART Domains

Protein: ENSMUSP00000119954
Gene: ENSMUSG00000033295

Domain	Start	End	E-Value	Type
FN3	37	116	4.06e-11	SMART
FN3	132	220	8.83e-12	SMART
FN3	235	315	3.2e-9	SMART
FN3	330	411	2.53e-12	SMART
FN3	426	502	3.48e-1	SMART
coiled coil region	568	597	N/A	INTRINSIC
transmembrane domain	676	698	N/A	INTRINSIC
PTPc	776	1034	1.12e-138	SMART
PTPc	1063	1325	3.4e-129	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000150096
AA Change: Y52H

SMART Domains

Protein: ENSMUSP00000117313
Gene: ENSMUSG00000033295
AA Change: Y52H

Domain	Start	End	E-Value	Type
FN3	14	66	2.7e1	SMART
FN3	82	165	5.73e-11	SMART
FN3	180	259	4.06e-11	SMART
FN3	275	372	6.69e-12	SMART
FN3	385	461	2.83e-1	SMART
coiled coil region	527	556	N/A	INTRINSIC
transmembrane domain	635	657	N/A	INTRINSIC
PTPc	735	993	1.12e-138	SMART
PTPc	1022	1284	3.4e-129	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000222620

Coding Region Coverage

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 possesses an extracellular region, a single transmembrane region, and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains three Ig-like domains, and nine non-Ig like domains similar to that of neural-cell adhesion molecule. This PTP was shown to function in the regulation of epithelial cell-cell contacts at adherents junctions, as well as in the control of beta-catenin signaling. An increased expression level of this protein was found in the insulin-responsive tissue of obese, insulin-resistant individuals, and may contribute to the pathogenesis of insulin resistance. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null females have premature involution of the mammary glands leading to an inability to feed pups. Other characteristics of null mice include defective nerve regeneration and hyperactivity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,645,529 (GRCm39)	Y1025H	probably damaging	Het
Adarb2	T	C	13: 8,620,282 (GRCm39)	L256P	probably benign	Het
Arsj	A	G	3: 126,158,763 (GRCm39)	Y114C	probably damaging	Het
Bdp1	G	A	13: 100,192,700 (GRCm39)	P1378L	probably benign	Het
Clca3a2	T	C	3: 144,800,939 (GRCm39)	Y138C	probably damaging	Het
Dsp	G	A	13: 38,376,663 (GRCm39)	D1483N	probably benign	Het
Etl4	T	C	2: 20,790,198 (GRCm39)	S617P	probably benign	Het
Fbxo34	T	C	14: 47,767,674 (GRCm39)	S345P	probably benign	Het
Gm5420	A	G	10: 21,567,514 (GRCm39)		noncoding transcript	Het
Gpr182	T	A	10: 127,586,655 (GRCm39)	I99F	possibly damaging	Het
Hectd1	A	G	12: 51,849,057 (GRCm39)	I349T	possibly damaging	Het
Kifc5b	A	G	17: 27,143,718 (GRCm39)	T497A	possibly damaging	Het
Mllt3	A	C	4: 87,759,057 (GRCm39)	D330E	probably damaging	Het
Mpp3	T	C	11: 101,891,411 (GRCm39)	T576A	probably benign	Het
Mroh2b	A	G	15: 4,934,506 (GRCm39)	M126V	probably benign	Het
Naalad2	T	G	9: 18,238,669 (GRCm39)	D644A	probably damaging	Het
Or4a74	A	G	2: 89,439,720 (GRCm39)	I242T	probably damaging	Het
Otof	C	A	5: 30,563,121 (GRCm39)	A242S	possibly damaging	Het
Otof	T	C	5: 30,576,856 (GRCm39)	D132G	probably benign	Het
Pdk4	T	A	6: 5,491,869 (GRCm39)	M68L	probably benign	Het
Rxrb	A	G	17: 34,255,605 (GRCm39)	N254S	probably damaging	Het
Samd5	T	A	10: 9,504,768 (GRCm39)	Y162F	probably benign	Het
Sapcd2	A	G	2: 25,266,491 (GRCm39)	*392W	probably null	Het
Senp6	T	C	9: 80,043,792 (GRCm39)	Y635H	probably damaging	Het
Serpine1	C	A	5: 137,098,185 (GRCm39)	V163L	probably damaging	Het
Slc15a1	T	C	14: 121,698,091 (GRCm39)	E678G	possibly damaging	Het
Slc22a16	T	C	10: 40,471,310 (GRCm39)	F494L	possibly damaging	Het
Slc5a12	T	A	2: 110,450,718 (GRCm39)	C304*	probably null	Het
Spink1	G	A	18: 43,870,216 (GRCm39)		probably benign	Het
Star	G	A	8: 26,299,892 (GRCm39)	G78E	probably damaging	Het
Stx1a	T	C	5: 135,074,518 (GRCm39)	I203T	probably damaging	Het
Tap2	A	G	17: 34,424,386 (GRCm39)		probably benign	Het
Trim75	T	C	8: 65,436,387 (GRCm39)	D21G	possibly damaging	Het
Vmn1r62	T	A	7: 5,679,144 (GRCm39)	I275N	probably damaging	Het

Other mutations in Ptprf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Ptprf	APN	4	118,080,417 (GRCm39)	splice site	probably benign
IGL01482:Ptprf	APN	4	118,069,651 (GRCm39)	missense	probably damaging	1.00
IGL01743:Ptprf	APN	4	118,106,095 (GRCm39)	critical splice donor site	probably null
IGL01987:Ptprf	APN	4	118,134,567 (GRCm39)	missense	probably benign
IGL02189:Ptprf	APN	4	118,070,839 (GRCm39)	splice site	probably benign
IGL03067:Ptprf	APN	4	118,067,910 (GRCm39)	missense	possibly damaging	0.67
PIT4677001:Ptprf	UTSW	4	118,070,809 (GRCm39)	missense	probably damaging	1.00
R0382:Ptprf	UTSW	4	118,080,591 (GRCm39)	splice site	probably benign
R0788:Ptprf	UTSW	4	118,083,663 (GRCm39)	missense	probably damaging	0.97
R1164:Ptprf	UTSW	4	118,114,689 (GRCm39)	missense	probably damaging	1.00
R1478:Ptprf	UTSW	4	118,069,302 (GRCm39)	nonsense	probably null
R1483:Ptprf	UTSW	4	118,093,161 (GRCm39)	missense	possibly damaging	0.81
R1611:Ptprf	UTSW	4	118,093,430 (GRCm39)	missense	probably benign	0.34
R1721:Ptprf	UTSW	4	118,082,096 (GRCm39)	missense	possibly damaging	0.56
R1817:Ptprf	UTSW	4	118,080,462 (GRCm39)	missense	probably benign	0.02
R1818:Ptprf	UTSW	4	118,067,068 (GRCm39)	missense	probably damaging	1.00
R1860:Ptprf	UTSW	4	118,081,129 (GRCm39)	missense	probably damaging	1.00
R2208:Ptprf	UTSW	4	118,126,369 (GRCm39)	splice site	probably benign
R2406:Ptprf	UTSW	4	118,126,501 (GRCm39)	missense	possibly damaging	0.62
R2912:Ptprf	UTSW	4	118,106,177 (GRCm39)	missense	probably damaging	0.98
R3111:Ptprf	UTSW	4	118,068,629 (GRCm39)	missense	probably damaging	1.00
R3498:Ptprf	UTSW	4	118,082,127 (GRCm39)	missense	probably damaging	0.99
R3499:Ptprf	UTSW	4	118,082,127 (GRCm39)	missense	probably damaging	0.99
R3615:Ptprf	UTSW	4	118,095,080 (GRCm39)	missense	probably benign	0.04
R3616:Ptprf	UTSW	4	118,095,080 (GRCm39)	missense	probably benign	0.04
R4038:Ptprf	UTSW	4	118,114,805 (GRCm39)	missense	probably damaging	1.00
R4243:Ptprf	UTSW	4	118,083,649 (GRCm39)	critical splice donor site	probably null
R4260:Ptprf	UTSW	4	118,083,280 (GRCm39)	missense	possibly damaging	0.64
R4693:Ptprf	UTSW	4	118,068,219 (GRCm39)	missense	probably benign	0.16
R4726:Ptprf	UTSW	4	118,069,414 (GRCm39)	missense	possibly damaging	0.86
R4746:Ptprf	UTSW	4	118,082,236 (GRCm39)	missense	possibly damaging	0.83
R4802:Ptprf	UTSW	4	118,067,526 (GRCm39)	intron	probably benign
R4857:Ptprf	UTSW	4	118,074,394 (GRCm39)	splice site	probably benign
R5071:Ptprf	UTSW	4	118,069,196 (GRCm39)	missense	probably damaging	1.00
R5221:Ptprf	UTSW	4	118,082,305 (GRCm39)	missense	probably benign	0.00
R5327:Ptprf	UTSW	4	118,093,586 (GRCm39)	missense	probably damaging	1.00
R5336:Ptprf	UTSW	4	118,092,831 (GRCm39)	missense	probably damaging	1.00
R5356:Ptprf	UTSW	4	118,083,535 (GRCm39)	missense	probably benign	0.00
R5373:Ptprf	UTSW	4	118,083,238 (GRCm39)	missense	possibly damaging	0.93
R5555:Ptprf	UTSW	4	118,082,121 (GRCm39)	missense	probably damaging	1.00
R5693:Ptprf	UTSW	4	118,093,374 (GRCm39)	nonsense	probably null
R5860:Ptprf	UTSW	4	118,068,486 (GRCm39)	intron	probably benign
R5869:Ptprf	UTSW	4	118,067,579 (GRCm39)	missense	probably damaging	1.00
R5890:Ptprf	UTSW	4	118,081,932 (GRCm39)	missense	probably benign
R5932:Ptprf	UTSW	4	118,068,964 (GRCm39)	missense	probably benign	0.10
R6028:Ptprf	UTSW	4	118,070,826 (GRCm39)	missense	probably benign	0.01
R6030:Ptprf	UTSW	4	118,068,245 (GRCm39)	missense	probably benign	0.19
R6030:Ptprf	UTSW	4	118,068,245 (GRCm39)	missense	probably benign	0.19
R6088:Ptprf	UTSW	4	118,067,952 (GRCm39)	missense	possibly damaging	0.68
R6089:Ptprf	UTSW	4	118,068,281 (GRCm39)	missense	probably damaging	0.99
R6108:Ptprf	UTSW	4	118,080,453 (GRCm39)	missense	probably benign	0.01
R6320:Ptprf	UTSW	4	118,070,011 (GRCm39)	missense	probably benign
R6741:Ptprf	UTSW	4	118,080,565 (GRCm39)	missense	probably benign	0.00
R6744:Ptprf	UTSW	4	118,093,562 (GRCm39)	missense	probably benign	0.00
R6750:Ptprf	UTSW	4	118,088,928 (GRCm39)	missense	probably benign	0.03
R6906:Ptprf	UTSW	4	118,126,474 (GRCm39)	missense	possibly damaging	0.95
R7021:Ptprf	UTSW	4	118,081,101 (GRCm39)	missense	probably benign	0.00
R7153:Ptprf	UTSW	4	118,088,740 (GRCm39)	missense	probably damaging	1.00
R7326:Ptprf	UTSW	4	118,088,866 (GRCm39)	missense	probably damaging	0.99
R7337:Ptprf	UTSW	4	118,068,322 (GRCm39)	missense	probably damaging	0.99
R7374:Ptprf	UTSW	4	118,114,689 (GRCm39)	missense	probably damaging	1.00
R7375:Ptprf	UTSW	4	118,070,011 (GRCm39)	missense	probably benign
R7399:Ptprf	UTSW	4	118,083,720 (GRCm39)	missense	probably benign	0.28
R7417:Ptprf	UTSW	4	118,069,369 (GRCm39)	missense	probably damaging	1.00
R7448:Ptprf	UTSW	4	118,092,864 (GRCm39)	missense	probably benign	0.03
R7530:Ptprf	UTSW	4	118,069,945 (GRCm39)	missense	probably damaging	1.00
R7593:Ptprf	UTSW	4	118,069,593 (GRCm39)	missense	probably benign	0.00
R8172:Ptprf	UTSW	4	118,068,275 (GRCm39)	missense	probably benign	0.03
R8239:Ptprf	UTSW	4	118,069,309 (GRCm39)	missense	possibly damaging	0.88
R8257:Ptprf	UTSW	4	118,083,476 (GRCm39)	missense	probably damaging	0.96
R8331:Ptprf	UTSW	4	118,083,263 (GRCm39)	missense	probably benign	0.27
R8441:Ptprf	UTSW	4	118,075,255 (GRCm39)	splice site	probably benign
R8681:Ptprf	UTSW	4	118,088,844 (GRCm39)	missense	probably benign	0.02
R8771:Ptprf	UTSW	4	118,068,987 (GRCm39)	missense	possibly damaging	0.95
R8815:Ptprf	UTSW	4	118,095,125 (GRCm39)	missense	possibly damaging	0.52
R8998:Ptprf	UTSW	4	118,083,671 (GRCm39)	missense	probably benign	0.00
R8999:Ptprf	UTSW	4	118,083,671 (GRCm39)	missense	probably benign	0.00
R9389:Ptprf	UTSW	4	118,093,236 (GRCm39)	missense	probably benign
R9508:Ptprf	UTSW	4	118,126,776 (GRCm39)	nonsense	probably null
R9581:Ptprf	UTSW	4	118,092,257 (GRCm39)	missense	probably benign	0.00
X0067:Ptprf	UTSW	4	118,093,223 (GRCm39)	missense	possibly damaging	0.85
Z1177:Ptprf	UTSW	4	118,126,812 (GRCm39)	missense	probably benign	0.04

Posted On

2013-10-07