Mutagenetix > Incidental Mutation

Incidental Mutation 'R7886:Ppfia1'

609064

Institutional Source

Beutler Lab

Gene Symbol

Ppfia1

Ensembl Gene

ENSMUSG00000037519

Gene Name

protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1

Synonyms

Liprin-alpha1, liprin, C030014K08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.881) question?

Stock #

R7886 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144476758-144553729 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 144519283 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 265 (Q265K)

Ref Sequence

ENSEMBL: ENSMUSP00000138312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168134] [ENSMUST00000182226] [ENSMUST00000182731]

AlphaFold

B2RXQ2

Predicted Effect

probably benign
Transcript: ENSMUST00000168134
AA Change: Q265K

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

SMART Domains

Protein: ENSMUSP00000126233
Gene: ENSMUSG00000037519
AA Change: Q265K

Domain	Start	End	E-Value	Type
low complexity region	14	30	N/A	INTRINSIC
coiled coil region	36	137	N/A	INTRINSIC
coiled coil region	250	517	N/A	INTRINSIC
low complexity region	594	607	N/A	INTRINSIC
coiled coil region	621	667	N/A	INTRINSIC
low complexity region	681	703	N/A	INTRINSIC
low complexity region	750	760	N/A	INTRINSIC
low complexity region	791	799	N/A	INTRINSIC
SAM	884	953	5.22e-7	SMART
low complexity region	954	966	N/A	INTRINSIC
SAM	999	1066	3.89e-6	SMART
SAM	1087	1159	1.14e-7	SMART
low complexity region	1207	1218	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182226
AA Change: Q265K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138312
Gene: ENSMUSG00000037519
AA Change: Q265K

Domain	Start	End	E-Value	Type
low complexity region	14	30	N/A	INTRINSIC
coiled coil region	36	137	N/A	INTRINSIC
coiled coil region	250	389	N/A	INTRINSIC
coiled coil region	411	542	N/A	INTRINSIC
low complexity region	619	632	N/A	INTRINSIC
coiled coil region	646	692	N/A	INTRINSIC
low complexity region	706	728	N/A	INTRINSIC
low complexity region	775	785	N/A	INTRINSIC
low complexity region	816	824	N/A	INTRINSIC
SAM	909	978	5.22e-7	SMART
low complexity region	979	991	N/A	INTRINSIC
SAM	1024	1091	3.89e-6	SMART
SAM	1112	1184	1.14e-7	SMART
low complexity region	1232	1243	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182731

SMART Domains

Protein: ENSMUSP00000138238
Gene: ENSMUSG00000037519

Domain	Start	End	E-Value	Type
coiled coil region	32	67	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (53/53)

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 LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. This protein binds to the intracellular membrane-distal phosphatase domain of tyrosine phosphatase LAR, and appears to localize LAR to cell focal adhesions. This interaction may regulate the disassembly of focal adhesion and thus help orchestrate cell-matrix interactions. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	T	G	6: 92,834,456	I130S	unknown	Het
Ano5	A	G	7: 51,570,393	H427R	probably benign	Het
Atad2	A	T	15: 58,126,136	V182E	probably damaging	Het
B4galnt1	T	C	10: 127,167,054	Y147H	probably damaging	Het
C1s2	T	C	6: 124,628,330	S349G	possibly damaging	Het
Ccdc51	G	T	9: 109,091,587	A181S	probably damaging	Het
Dcc	G	A	18: 71,954,868	Q100*	probably null	Het
Dchs2	A	T	3: 83,305,085	I2064F	probably damaging	Het
Depdc1a	G	A	3: 159,516,069	V217I	probably benign	Het
Dnajc7	A	T	11: 100,601,803	F31I	probably benign	Het
Eftud2	C	T	11: 102,840,108	R825H	probably damaging	Het
Fam184a	T	C	10: 53,675,160	E237G	probably damaging	Het
Fdx1l	A	T	9: 21,073,327		probably null	Het
Frem1	T	C	4: 83,016,406	D106G	possibly damaging	Het
Gabrg3	G	A	7: 56,724,481	R446W	probably damaging	Het
Gm42669	A	G	5: 107,508,706	E362G		Het
Hmcn1	A	T	1: 150,657,470	I3022N	possibly damaging	Het
Ifna2	C	A	4: 88,683,269	V171F	probably damaging	Het
Igsf10	T	C	3: 59,328,327	N1478D	probably benign	Het
Kcnc1	C	A	7: 46,427,621	D282E	probably damaging	Het
Klhdc2	G	A	12: 69,304,632		probably null	Het
Macrod2	G	A	2: 141,724,645	G188S	probably damaging	Het
Mapkbp1	T	C	2: 120,012,647	F186L	possibly damaging	Het
Mettl21a	T	C	1: 64,615,184	E58G	probably damaging	Het
Muc16	A	T	9: 18,585,982	C6625S	probably benign	Het
Naip5	A	T	13: 100,246,181	S7T	probably benign	Het
Nfs1	T	A	2: 156,142,061	D132V	unknown	Het
Nlgn1	T	C	3: 25,435,907	D552G	probably damaging	Het
Numa1	C	T	7: 102,013,865	T2066I	probably benign	Het
Olfr1355	A	G	10: 78,879,823	Y217C	possibly damaging	Het
Olfr330	C	A	11: 58,529,054	V311L	probably benign	Het
Olfr370	T	C	8: 83,541,947	S268P	possibly damaging	Het
Olfr730	A	T	14: 50,186,564	Y219N	probably damaging	Het
Olfr847	A	T	9: 19,375,906		probably null	Het
Pde11a	C	T	2: 76,291,203	V345I	probably benign	Het
Pglyrp2	A	G	17: 32,418,761	S98P	possibly damaging	Het
Pik3c3	C	T	18: 30,319,588	Q643*	probably null	Het
Pold2	T	C	11: 5,872,714	Y402C	probably damaging	Het
Pom121	T	C	5: 135,381,994	T770A	unknown	Het
Pou4f1	A	T	14: 104,466,792	V68E	probably damaging	Het
Pygl	A	G	12: 70,206,356		probably null	Het
Rdh19	A	G	10: 127,850,300	T94A	probably benign	Het
Scgb1b12	A	G	7: 32,334,497	T61A	probably damaging	Het
Sirpb1c	C	T	3: 15,832,202	A337T	probably benign	Het
Sltm	C	G	9: 70,586,673	P802R	possibly damaging	Het
Tbc1d23	T	C	16: 57,189,383	E381G	possibly damaging	Het
Tnik	A	G	3: 28,666,139	I1304V	probably damaging	Het
Tpmt	C	A	13: 47,040,162	G54C	probably damaging	Het
Usp25	A	T	16: 77,113,771	Q905L	probably damaging	Het
Vmn1r91	T	A	7: 20,101,565	N136K	probably benign	Het
Wdr70	C	T	15: 8,079,249	E138K	probably benign	Het
Wrb	T	A	16: 96,145,568	L31Q	possibly damaging	Het
Zbed3	A	G	13: 95,336,125	D19G	possibly damaging	Het
Zfp369	A	G	13: 65,292,054	K184R	possibly damaging	Het

Other mutations in Ppfia1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01626:Ppfia1	APN	7	144481719	missense	probably benign	0.00
IGL01771:Ppfia1	APN	7	144482357	missense	probably benign	0.36
IGL02220:Ppfia1	APN	7	144481775	missense	probably damaging	1.00
IGL02683:Ppfia1	APN	7	144513358	missense	probably damaging	0.99
IGL02752:Ppfia1	APN	7	144519604	missense	probably benign
PIT1430001:Ppfia1	UTSW	7	144498336	missense	probably damaging	1.00
R0081:Ppfia1	UTSW	7	144504974	missense	probably damaging	1.00
R0304:Ppfia1	UTSW	7	144482345	missense	probably damaging	1.00
R0359:Ppfia1	UTSW	7	144485192	missense	probably damaging	0.97
R1836:Ppfia1	UTSW	7	144519631	missense	probably benign	0.19
R1934:Ppfia1	UTSW	7	144505110	missense	probably benign	0.12
R2195:Ppfia1	UTSW	7	144516107	missense	probably damaging	1.00
R3759:Ppfia1	UTSW	7	144516002	missense	probably benign	0.34
R3843:Ppfia1	UTSW	7	144504970	missense	probably benign	0.31
R4606:Ppfia1	UTSW	7	144485192	missense	probably damaging	0.97
R4820:Ppfia1	UTSW	7	144498369	missense	probably benign	0.33
R4898:Ppfia1	UTSW	7	144491576	missense	probably damaging	1.00
R5069:Ppfia1	UTSW	7	144514473	nonsense	probably null
R5070:Ppfia1	UTSW	7	144514473	nonsense	probably null
R5076:Ppfia1	UTSW	7	144506264	missense	probably damaging	1.00
R5280:Ppfia1	UTSW	7	144485095	missense	possibly damaging	0.84
R5473:Ppfia1	UTSW	7	144491492	missense	probably benign	0.17
R5656:Ppfia1	UTSW	7	144519974	critical splice donor site	probably null
R5818:Ppfia1	UTSW	7	144520568	intron	probably benign
R6104:Ppfia1	UTSW	7	144491574	missense	possibly damaging	0.95
R6299:Ppfia1	UTSW	7	144510312	missense	probably benign	0.11
R6474:Ppfia1	UTSW	7	144506205	missense	possibly damaging	0.89
R6705:Ppfia1	UTSW	7	144519174	missense	possibly damaging	0.93
R6734:Ppfia1	UTSW	7	144479053	missense	probably damaging	1.00
R7062:Ppfia1	UTSW	7	144552473	missense	probably benign
R7451:Ppfia1	UTSW	7	144508210	missense	probably benign
R7514:Ppfia1	UTSW	7	144517713	missense	probably benign	0.01
R7552:Ppfia1	UTSW	7	144506245	missense	probably damaging	1.00
R7633:Ppfia1	UTSW	7	144552436	missense	possibly damaging	0.89
R8038:Ppfia1	UTSW	7	144514916	missense	possibly damaging	0.67
R8139:Ppfia1	UTSW	7	144520693	missense	probably damaging	1.00
R8266:Ppfia1	UTSW	7	144514494	missense	possibly damaging	0.72
R8859:Ppfia1	UTSW	7	144479025	critical splice donor site	probably null
R9621:Ppfia1	UTSW	7	144498779	missense	probably damaging	1.00
R9722:Ppfia1	UTSW	7	144517665	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- TGCCAAAGGTTCCAGACTATG -3'
(R):5'- TGTTGGGGAATAGTGGCAAC -3'

Sequencing Primer
(F):5'- CCAAAGGTTCCAGACTATGAGAGC -3'
(R):5'- GCAACTAAGGTGTGTGTCCAC -3'

Posted On

2019-12-20