Mutagenetix > Incidental Mutation

Incidental Mutation 'R4260:Ptprf'

322600

Institutional Source

Beutler Lab

Gene Symbol

Ptprf

Ensembl Gene

ENSMUSG00000033295

Gene Name

protein tyrosine phosphatase receptor type F

Synonyms

RPTP-LAR, LAR

MMRRC Submission

041073-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.657) question?

Stock #

R4260 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118065410-118148602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118083280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 909 (F909S)

Ref Sequence

ENSEMBL: ENSMUSP00000039368 (fasta)

Gene Model

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

AlphaFold

A2A8L5

PDB Structure

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049074
AA Change: F909S

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000039368
Gene: ENSMUSG00000033295
AA Change: F909S

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

unknown
Transcript: ENSMUST00000124758
AA Change: F331S

SMART Domains

Protein: ENSMUSP00000119954
Gene: ENSMUSG00000033295
AA Change: F331S

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

noncoding transcript
Transcript: ENSMUST00000143348

Predicted Effect

probably benign
Transcript: ENSMUST00000150096

SMART Domains

Protein: ENSMUSP00000117313
Gene: ENSMUSG00000033295

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

Meta Mutation Damage Score

0.1023

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (50/51)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp2	G	A	18: 80,180,742 (GRCm39)	S52L	possibly damaging	Het
Best3	A	T	10: 116,860,131 (GRCm39)	M464L	probably benign	Het
Ccdc83	T	G	7: 89,877,599 (GRCm39)	D281A	possibly damaging	Het
Ccnf	G	A	17: 24,445,741 (GRCm39)	P502S	probably damaging	Het
Cd109	T	A	9: 78,543,745 (GRCm39)	S96R	possibly damaging	Het
Cep290	A	C	10: 100,350,354 (GRCm39)	E649D	probably damaging	Het
Cntnap5a	G	T	1: 116,374,325 (GRCm39)	A946S	probably benign	Het
Csnk2a2	A	T	8: 96,184,027 (GRCm39)	D177E	probably benign	Het
Cyld	T	C	8: 89,468,019 (GRCm39)	S551P	probably damaging	Het
Degs1	A	T	1: 182,106,806 (GRCm39)	I151N	probably benign	Het
Dnah12	A	G	14: 26,520,883 (GRCm39)	I1901V	probably benign	Het
Eif2ak3	G	A	6: 70,866,497 (GRCm39)	R597H	probably damaging	Het
Epg5	A	T	18: 78,002,336 (GRCm39)	H585L	possibly damaging	Het
Epg5	G	C	18: 78,058,914 (GRCm39)	W1889C	probably damaging	Het
Fam220a	G	C	5: 143,548,762 (GRCm39)	R58P	possibly damaging	Het
Gemin5	G	A	11: 58,059,185 (GRCm39)	A32V	probably damaging	Het
Gm11189	A	C	11: 53,091,703 (GRCm39)		noncoding transcript	Het
Grb2	A	G	11: 115,540,642 (GRCm39)	I85T	probably damaging	Het
Herc1	CTGAGGACTCTTTG	CTG	9: 66,355,630 (GRCm39)		probably null	Het
Ide	A	C	19: 37,306,585 (GRCm39)	S63A	unknown	Het
Kel	A	T	6: 41,663,357 (GRCm39)		probably benign	Het
Kifap3	C	A	1: 163,689,597 (GRCm39)	T527K	probably damaging	Het
Klra10	A	G	6: 130,249,644 (GRCm39)	W214R	probably damaging	Het
Luc7l3	A	T	11: 94,186,876 (GRCm39)		probably benign	Het
Mrpl4	A	G	9: 20,918,988 (GRCm39)	E211G	possibly damaging	Het
Or4k39	T	A	2: 111,238,850 (GRCm39)		noncoding transcript	Het
Or52n5	A	C	7: 104,587,803 (GRCm39)	E23D	probably damaging	Het
Pbld2	T	C	10: 62,860,186 (GRCm39)		probably benign	Het
Plcg1	T	C	2: 160,593,627 (GRCm39)		probably null	Het
Ppcs	A	G	4: 119,279,106 (GRCm39)	F149L	probably damaging	Het
Ptpdc1	A	G	13: 48,733,234 (GRCm39)	M802T	probably benign	Het
Raph1	A	T	1: 60,542,124 (GRCm39)	M330K	possibly damaging	Het
Rprd1a	G	A	18: 24,621,352 (GRCm39)	R276C	possibly damaging	Het
Scg3	A	G	9: 75,558,979 (GRCm39)	Y406H	probably damaging	Het
Setdb1	G	A	3: 95,234,808 (GRCm39)	S965F	probably damaging	Het
Sgo2b	A	T	8: 64,381,330 (GRCm39)	F501I	probably benign	Het
Slc38a4	A	G	15: 96,896,374 (GRCm39)	Y498H	probably damaging	Het
Slc5a4b	A	G	10: 75,939,686 (GRCm39)	L150P	probably damaging	Het
Spata17	T	A	1: 186,780,677 (GRCm39)	T357S	possibly damaging	Het
Tmt1a	A	G	15: 100,210,951 (GRCm39)	D141G	probably benign	Het
Zap70	T	A	1: 36,818,189 (GRCm39)		probably benign	Het
Zfp985	G	A	4: 147,668,029 (GRCm39)	C299Y	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
IGL01337:Ptprf	APN	4	118,093,488 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CATAAGTGGTGTCCGGTTTAAGGC -3'
(R):5'- TGGGCTACCGTCTCCAATAC -3'

Sequencing Primer
(F):5'- TCCGGTTTAAGGCCCAAGAGTG -3'
(R):5'- TACCGTCTCCAATACCGGCG -3'

Posted On

2015-06-20