Mutagenetix > Incidental Mutation

Incidental Mutation 'R5076:Ppfia1'

395771

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

042665-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.901) question?

Stock #

R5076 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144476758-144553729 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 144506264 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 604 (R604W)

Ref Sequence

ENSEMBL: ENSMUSP00000138312 (fasta)

Gene Model

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

AlphaFold

B2RXQ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000168134
AA Change: R579W

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

SMART Domains

Protein: ENSMUSP00000126233
Gene: ENSMUSG00000037519
AA Change: R579W

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 damaging
Transcript: ENSMUST00000182226
AA Change: R604W

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

SMART Domains

Protein: ENSMUSP00000138312
Gene: ENSMUSG00000037519
AA Change: R604W

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

unknown
Transcript: ENSMUST00000182958
AA Change: R113W

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183183

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.0%

Validation Efficiency

97% (66/68)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 90,056,252	I72V	probably benign	Het
Aadacl3	G	A	4: 144,456,070	P276L	possibly damaging	Het
Acp6	T	A	3: 97,167,989	S180T	probably benign	Het
Adgrd1	A	T	5: 129,143,989	R449*	probably null	Het
Ak1	T	C	2: 32,633,448	V176A	probably damaging	Het
Capzb	A	T	4: 139,287,814	D226V	possibly damaging	Het
Cd34	A	T	1: 194,948,030		probably benign	Het
Cdh15	C	A	8: 122,864,348	D445E	possibly damaging	Het
Chil4	A	G	3: 106,202,597	F367L	probably damaging	Het
Clstn2	T	C	9: 97,483,079	Y458C	probably damaging	Het
Ctsw	T	C	19: 5,468,458	Y9C	probably benign	Het
Dhrs7	T	C	12: 72,659,481	D50G	probably benign	Het
Dnah14	A	G	1: 181,757,234	K3177E	probably benign	Het
Ehd1	T	C	19: 6,277,221	F83L	probably benign	Het
Eif5a2	G	A	3: 28,782,737	V59I	possibly damaging	Het
Emilin3	T	A	2: 160,909,318		probably null	Het
Entpd8	A	G	2: 25,085,054	S426G	possibly damaging	Het
Epb41l4b	C	T	4: 57,040,984	G493D	probably damaging	Het
Fam208b	C	T	13: 3,576,357	V1198I	probably benign	Het
Gm11596	C	T	11: 99,792,872	G141R	unknown	Het
Gm1840	T	G	8: 5,640,130		noncoding transcript	Het
H2-Q4	T	C	17: 35,380,441	Y167H	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Itpr1	A	G	6: 108,405,529		probably null	Het
Kif2c	A	T	4: 117,174,869		probably benign	Het
Klrb1-ps1	C	T	6: 129,119,788		noncoding transcript	Het
Krtap9-5	A	T	11: 99,949,468	T332S	unknown	Het
Lrrc39	A	T	3: 116,579,540	E283V	probably benign	Het
Mdga1	A	G	17: 29,850,554	S447P	possibly damaging	Het
Mindy1	G	A	3: 95,295,399	V425M	probably benign	Het
Mllt6	G	A	11: 97,669,500	S210N	possibly damaging	Het
Mrps5	T	A	2: 127,600,852	Y280*	probably null	Het
Muc3a	T	A	5: 137,210,540	T159S	probably damaging	Het
Olfr1252	T	A	2: 89,721,401	T237S	probably damaging	Het
Olfr1310	A	T	2: 112,008,592	M198K	probably damaging	Het
Olfr286	T	A	15: 98,226,761	I295F	probably damaging	Het
Pcdhga4	G	A	18: 37,685,595	V66I	probably benign	Het
Pdhx	T	C	2: 103,041,077	T203A	probably damaging	Het
Pdss1	A	G	2: 22,899,917		probably null	Het
Pdxk	G	T	10: 78,450,307	Q103K	probably benign	Het
Peg3	A	G	7: 6,708,420	C1268R	probably damaging	Het
Pitpnc1	A	T	11: 107,296,267	S77T	probably damaging	Het
Pnisr	T	A	4: 21,874,990		probably benign	Het
Poc1b	C	T	10: 99,107,841	T22I	probably damaging	Het
Ppp1r3a	A	G	6: 14,754,681	F189S	probably damaging	Het
Rbks	T	A	5: 31,650,451	Y99*	probably null	Het
Rsg1	A	G	4: 141,217,385	I82M	probably benign	Het
Sh3rf2	G	T	18: 42,053,924	C36F	probably damaging	Het
Spock3	T	A	8: 63,345,855	N303K	probably damaging	Het
Tcaf2	T	C	6: 42,629,467	T518A	probably benign	Het
Tmem163	A	T	1: 127,500,276	V191D	probably damaging	Het
Trappc6b	A	G	12: 59,050,308	V76A	probably damaging	Het
Ube2nl	A	G	7: 61,549,532		noncoding transcript	Het
Unc5d	C	T	8: 28,694,676	V599M	possibly damaging	Het
Vmn1r184	A	T	7: 26,266,921	M31L	probably benign	Het
Vrtn	C	A	12: 84,649,474	Q333K	probably damaging	Het
Zfp788	T	A	7: 41,648,584	F163I	possibly damaging	Het
Zfyve1	C	T	12: 83,555,647	R458H	probably 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
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

Predicted Primers

PCR Primer
(F):5'- GCTGTTCCTGAAGCATCATGG -3'
(R):5'- ATCACAGGATGCGTGCTTGC -3'

Sequencing Primer
(F):5'- TGAAGCATCATGGCCAGTGTC -3'
(R):5'- AAGTGTGCTCCAAAGTGTCC -3'

Posted On

2016-06-21