Mutagenetix > Incidental Mutation

Incidental Mutation 'R8998:Ptprf'

684811

Institutional Source

Beutler Lab

Gene Symbol

Ptprf

Ensembl Gene

ENSMUSG00000033295

Gene Name

protein tyrosine phosphatase receptor type F

Synonyms

RPTP-LAR, LAR

MMRRC Submission

068829-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.657) question?

Stock #

R8998 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118065410-118148602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118083671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 804 (V804A)

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

probably benign
Transcript: ENSMUST00000049074
AA Change: V804A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000039368
Gene: ENSMUSG00000033295
AA Change: V804A

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

SMART Domains

Protein: ENSMUSP00000119954
Gene: ENSMUSG00000033295
AA Change: V226A

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

SMART Domains

Protein: ENSMUSP00000117313
Gene: ENSMUSG00000033295
AA Change: V378A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aipl1	T	C	11: 71,921,083 (GRCm39)	E245G	possibly damaging	Het
Cd6	A	T	19: 10,776,642 (GRCm39)	C128S	probably damaging	Het
Cep41	T	C	6: 30,666,165 (GRCm39)	D98G	probably benign	Het
Cfap52	T	C	11: 67,818,137 (GRCm39)	K525E	probably damaging	Het
Ddx10	T	C	9: 53,140,534 (GRCm39)	E289G	possibly damaging	Het
Dnah1	T	C	14: 31,018,235 (GRCm39)	T1428A	probably benign	Het
Dsg3	T	C	18: 20,666,684 (GRCm39)	L631P	probably damaging	Het
Dusp19	T	A	2: 80,461,271 (GRCm39)	C187S	probably benign	Het
Efcab3	A	T	11: 104,640,477 (GRCm39)	M1072L	probably benign	Het
Fap	T	C	2: 62,367,368 (GRCm39)	H338R	probably benign	Het
Gabrg1	T	A	5: 70,973,378 (GRCm39)	I59F	probably benign	Het
Glb1l3	A	T	9: 26,764,914 (GRCm39)		probably null	Het
Igkv8-26	C	A	6: 70,170,514 (GRCm39)	A35E	probably benign	Het
Ikzf1	A	G	11: 11,635,013 (GRCm39)		probably benign	Het
Krt18	A	C	15: 101,939,874 (GRCm39)	E357D	probably damaging	Het
Lbr	C	T	1: 181,646,512 (GRCm39)	G470E	probably damaging	Het
Map2	A	T	1: 66,452,473 (GRCm39)	K454N	possibly damaging	Het
Map2k3	T	C	11: 60,840,817 (GRCm39)	V282A		Het
Men1	G	A	19: 6,389,960 (GRCm39)	V538I	probably benign	Het
Mfn1	T	A	3: 32,623,683 (GRCm39)	M621K	possibly damaging	Het
Mpdz	C	A	4: 81,202,882 (GRCm39)	G1838*	probably null	Het
Msantd5f9	G	C	4: 73,837,420 (GRCm39)	N99K	probably damaging	Het
Mypn	A	T	10: 62,998,050 (GRCm39)	L420*	probably null	Het
Nkx6-1	T	C	5: 101,812,082 (GRCm39)	M7V	unknown	Het
Notum	G	A	11: 120,545,207 (GRCm39)	H451Y	probably benign	Het
Odad2	C	A	18: 7,211,574 (GRCm39)	V767L	possibly damaging	Het
Or11i1	A	T	3: 106,728,999 (GRCm39)	I292N	probably damaging	Het
Or2b28	A	G	13: 21,531,988 (GRCm39)	K297E	probably damaging	Het
Or6c3	A	G	10: 129,309,386 (GRCm39)	N275S	probably benign	Het
Pabpc4l	A	C	3: 46,400,783 (GRCm39)	I287S	probably benign	Het
Pcdha2	C	T	18: 37,073,428 (GRCm39)	T353M	possibly damaging	Het
Plekha1	T	C	7: 130,510,199 (GRCm39)	I315T	unknown	Het
Ppp2r2b	C	T	18: 42,870,993 (GRCm39)	A106T	probably benign	Het
Prkch	T	C	12: 73,742,973 (GRCm39)	V209A	probably damaging	Het
Ptprc	A	G	1: 138,028,930 (GRCm39)	C284R	probably damaging	Het
Rbp3	C	T	14: 33,684,360 (GRCm39)	R1130*	probably null	Het
Serpina6	C	G	12: 103,617,988 (GRCm39)	R275P	probably damaging	Het
Six3	T	A	17: 85,931,164 (GRCm39)	H273Q	probably benign	Het
Stk35	C	A	2: 129,652,509 (GRCm39)	P337T	probably damaging	Het
Supt5	A	G	7: 28,037,848 (GRCm39)	S2P	unknown	Het
Tnik	A	G	3: 28,719,920 (GRCm39)	Y1264C	probably damaging	Het
Trim45	A	G	3: 100,838,960 (GRCm39)	T621A	unknown	Het
Tyrp1	T	C	4: 80,763,094 (GRCm39)	L327P	probably damaging	Het
Vmn2r69	A	C	7: 85,060,307 (GRCm39)	S426A	probably benign	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
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
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'- CCAAAGTCTATGGTGTTGGGC -3'
(R):5'- TAGGCTCCAGTCTTCAGGTGAC -3'

Sequencing Primer
(F):5'- TATTGGAGACGGTAGCCCAGC -3'
(R):5'- GACTGGTAGTCTAACTTCTTACGCAG -3'

Posted On

2021-10-11