Mutagenetix > Incidental Mutation

Incidental Mutation 'R5069:Ppfia1'

388546

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

042659-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.895) question?

Stock #

R5069 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144476758-144553729 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 144514473 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 446 (Q446*)

Ref Sequence

ENSEMBL: ENSMUSP00000138312 (fasta)

Gene Model

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

AlphaFold

B2RXQ2

Predicted Effect

probably null
Transcript: ENSMUST00000168134
AA Change: Q421*

SMART Domains

Protein: ENSMUSP00000126233
Gene: ENSMUSG00000037519
AA Change: Q421*

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 null
Transcript: ENSMUST00000182226
AA Change: Q446*

SMART Domains

Protein: ENSMUSP00000138312
Gene: ENSMUSG00000037519
AA Change: Q446*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000182958

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

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 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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,661,792	S739P	possibly damaging	Het
9330182L06Rik	T	A	5: 9,440,897	C636S	probably damaging	Het
Actn2	A	G	13: 12,288,522	I464T	possibly damaging	Het
Adcy7	T	C	8: 88,327,697	L1060P	probably damaging	Het
Aff3	A	G	1: 38,181,613		probably null	Het
Ankar	T	C	1: 72,680,210		probably null	Het
Ankrd27	A	T	7: 35,628,435	K793N	probably damaging	Het
Arhgef28	T	C	13: 98,075,206	T90A	probably damaging	Het
Armc9	A	T	1: 86,257,237	H670L	probably benign	Het
Arvcf	A	G	16: 18,398,986	Y412C	probably damaging	Het
Ass1	C	T	2: 31,510,173	T301M	probably damaging	Het
Baiap3	A	T	17: 25,249,108	C283S	probably damaging	Het
BC055324	T	C	1: 163,987,674	T93A	possibly damaging	Het
Birc6	C	T	17: 74,565,972	R409C	probably damaging	Het
Calcoco1	A	G	15: 102,711,092	L354P	probably damaging	Het
Cdh3	A	G	8: 106,536,826	N126S	probably benign	Het
Cfap54	A	C	10: 92,937,774	F135L	probably benign	Het
Dlg1	G	T	16: 31,684,295		probably null	Het
Dnah3	T	C	7: 120,032,790	H1314R	probably benign	Het
Dsp	A	C	13: 38,197,123	T2615P	possibly damaging	Het
Enpp2	T	C	15: 54,864,054	Y513C	probably damaging	Het
Ercc6	T	C	14: 32,570,063	V1128A	probably benign	Het
Gipc2	A	G	3: 152,094,248	F282L	probably benign	Het
Gm1043	T	G	5: 37,187,236	L231R	probably damaging	Het
Gm13178	T	A	4: 144,703,867	D184V	probably damaging	Het
Gm14085	A	T	2: 122,494,373	N142I	possibly damaging	Het
Gm14685	T	C	X: 73,127,971	I323T	probably damaging	Het
Gpr153	T	A	4: 152,279,883	M132K	probably damaging	Het
Hbs1l	T	A	10: 21,354,647	S496T	probably damaging	Het
Inpp5f	A	G	7: 128,676,727		probably null	Het
Kat6a	G	A	8: 22,903,133	C209Y	probably damaging	Het
Kcna2	T	A	3: 107,104,637	V178D	probably damaging	Het
Krt75	A	G	15: 101,566,238		probably null	Het
Letm2	G	A	8: 25,593,964	Q84*	probably null	Het
Mib1	A	G	18: 10,793,002	E646G	probably damaging	Het
Mmp14	T	A	14: 54,439,113	Y372N	probably damaging	Het
Muc6	A	G	7: 141,651,299	C218R	probably damaging	Het
Myof	A	T	19: 37,905,325	I1130N	possibly damaging	Het
Neil3	A	G	8: 53,601,041	S318P	possibly damaging	Het
Nhlh1	A	G	1: 172,053,900	V133A	probably benign	Het
Nup153	A	C	13: 46,709,792	S331A	probably benign	Het
Nup98	T	C	7: 102,145,655	T882A	probably benign	Het
Olfr1413	T	A	1: 92,573,413	S81T	probably damaging	Het
Olfr599	A	T	7: 103,338,022		probably null	Het
Olfr744	T	A	14: 50,618,740	C173S	probably damaging	Het
Olfr749	C	A	14: 50,737,074	L29F	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pald1	A	T	10: 61,341,246	M675K	possibly damaging	Het
Pex5	A	G	6: 124,413,596	S97P	probably benign	Het
Pitpnm1	C	T	19: 4,111,140	A897V	probably benign	Het
Plxnd1	A	T	6: 115,965,901	V1274E	probably damaging	Het
Polr2a	T	C	11: 69,736,735		probably null	Het
Psma2	G	A	13: 14,616,028	V20I	probably benign	Het
Rhbdl2	T	A	4: 123,817,917	L149*	probably null	Het
Rnf17	T	C	14: 56,505,928	V1317A	probably damaging	Het
Rtel1	G	A	2: 181,355,492	V1042M	probably benign	Het
Sidt2	A	T	9: 45,939,461		probably null	Het
Slc11a1	G	A	1: 74,385,184	A434T	probably damaging	Het
Slc4a10	G	A	2: 62,267,571	R508H	probably benign	Het
Slc5a8	A	T	10: 88,886,598	I98F	possibly damaging	Het
Slf2	T	A	19: 44,935,253	S169T	possibly damaging	Het
Snx33	A	T	9: 56,926,191	I198N	probably damaging	Het
Spock3	A	G	8: 63,355,265	T396A	probably benign	Het
Sva	A	T	6: 42,038,417		probably benign	Het
Syt7	A	G	19: 10,439,237	N261S	probably benign	Het
Taar7b	T	G	10: 24,000,461	S175A	probably benign	Het
Thoc2	C	T	X: 41,806,693	E1491K	probably damaging	Het
Tlr1	T	C	5: 64,926,400	Y278C	probably benign	Het
Tph2	T	A	10: 115,151,174	Y237F	probably benign	Het
Trim35	C	T	14: 66,308,972		probably benign	Het
Trpm4	T	G	7: 45,310,469	Y667S	probably damaging	Het
Ttc27	T	A	17: 74,799,342	H541Q	probably damaging	Het
Ube4a	T	C	9: 44,940,089	H709R	probably damaging	Het
Vwa7	G	A	17: 35,024,190	V615I	probably benign	Het
Wars2	A	G	3: 99,187,533	H48R	probably damaging	Het
Xlr4c	T	A	X: 73,238,684	K121M	probably damaging	Het
Zfc3h1	T	A	10: 115,418,783	C1427*	probably null	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
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
R7886:Ppfia1	UTSW	7	144519283	missense	probably benign
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'- GCTGTGCAAGGATTCCACAG -3'
(R):5'- TACACATTGAAGCCACCGAG -3'

Sequencing Primer
(F):5'- GTGCAAGGATTCCACAGTCACAC -3'
(R):5'- ATGGATATGAGGAAGTGTTGTCC -3'

Posted On

2016-06-06