Mutagenetix > Incidental Mutation

Incidental Mutation 'R0081:Ppfia1'

215982

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

038368-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.897) question?

Stock #

R0081 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144030495-144107466 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 144058711 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 722 (G722C)

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: G697C

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

SMART Domains

Protein: ENSMUSP00000126233
Gene: ENSMUSG00000037519
AA Change: G697C

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: G722C

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

SMART Domains

Protein: ENSMUSP00000138312
Gene: ENSMUSG00000037519
AA Change: G722C

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: G231C

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183183

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183197

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 97.2%
10x: 88.5%
20x: 63.6%

Validation Efficiency

94% (159/169)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	T	C	8: 25,271,703 (GRCm39)	D485G	probably damaging	Het
Adamts19	T	C	18: 59,036,137 (GRCm39)		probably null	Het
Adgrd1	A	T	5: 129,255,146 (GRCm39)	I598F	probably damaging	Het
Adh5	A	G	3: 138,157,174 (GRCm39)	D245G	probably benign	Het
Adra2b	T	C	2: 127,206,212 (GRCm39)	V238A	probably benign	Het
Ank1	G	A	8: 23,606,258 (GRCm39)	V1188I	possibly damaging	Het
Asap1	C	T	15: 63,971,413 (GRCm39)	G905D	probably damaging	Het
AW554918	T	C	18: 25,477,959 (GRCm39)	V428A	probably benign	Het
Birc6	T	A	17: 74,950,436 (GRCm39)	S3226T	probably benign	Het
Cdh17	A	T	4: 11,785,280 (GRCm39)		probably benign	Het
Cyfip2	A	T	11: 46,144,825 (GRCm39)	Y676*	probably null	Het
Dcaf17	T	A	2: 70,908,812 (GRCm39)		probably benign	Het
Dclre1a	A	G	19: 56,531,139 (GRCm39)	F736L	probably damaging	Het
Ddx41	A	T	13: 55,683,193 (GRCm39)	H171Q	possibly damaging	Het
Dennd5b	G	T	6: 148,895,257 (GRCm39)	Q1258K	probably benign	Het
Dock10	T	C	1: 80,584,295 (GRCm39)	D137G	probably damaging	Het
Dpyd	G	A	3: 118,737,904 (GRCm39)	V482I	probably benign	Het
Erich6	A	T	3: 58,543,547 (GRCm39)		probably benign	Het
Fam193b	A	G	13: 55,702,024 (GRCm39)		probably benign	Het
Foxp2	T	C	6: 15,405,643 (GRCm39)		probably benign	Het
Frmd4a	T	C	2: 4,577,252 (GRCm39)		probably null	Het
Gas2l2	A	G	11: 83,313,693 (GRCm39)	S540P	possibly damaging	Het
Glis2	T	C	16: 4,431,517 (GRCm39)	V348A	probably benign	Het
Gm14443	C	A	2: 175,011,729 (GRCm39)	G239V	probably damaging	Het
Gpr158	T	C	2: 21,831,528 (GRCm39)	V876A	probably damaging	Het
H1f8	A	G	6: 115,926,942 (GRCm39)	E273G	probably benign	Het
Hadh	C	T	3: 131,029,285 (GRCm39)	D245N	probably damaging	Het
Hk2	A	T	6: 82,711,957 (GRCm39)		probably benign	Het
Ice1	A	T	13: 70,767,163 (GRCm39)	Y108*	probably null	Het
Il10ra	T	G	9: 45,167,247 (GRCm39)	M435L	probably benign	Het
Inpp5k	GT	G	11: 75,521,973 (GRCm39)		probably null	Het
Kank4	G	T	4: 98,666,567 (GRCm39)	P627T	probably benign	Het
Kif16b	A	G	2: 142,549,346 (GRCm39)		probably benign	Het
Lipn	A	G	19: 34,054,376 (GRCm39)	I205V	probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Myh1	T	C	11: 67,106,683 (GRCm39)	M1255T	probably benign	Het
Myl3	A	C	9: 110,596,997 (GRCm39)	D119A	probably damaging	Het
Myo1d	T	G	11: 80,448,349 (GRCm39)	K925N	probably benign	Het
Myoz1	T	A	14: 20,699,622 (GRCm39)	M239L	probably benign	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nf1	C	A	11: 79,344,805 (GRCm39)		probably benign	Het
Npepl1	C	T	2: 173,957,879 (GRCm39)	P239S	probably damaging	Het
Olfml1	A	G	7: 107,170,506 (GRCm39)	K131R	probably benign	Het
Or12k5	G	A	2: 36,895,462 (GRCm39)	L55F	probably damaging	Het
Or1e29	A	G	11: 73,667,935 (GRCm39)	F73L	possibly damaging	Het
Or1j15	T	A	2: 36,458,893 (GRCm39)	Y94*	probably null	Het
Or1j20	T	C	2: 36,760,022 (GRCm39)	L148S	possibly damaging	Het
Or4c10	T	A	2: 89,760,423 (GRCm39)	I90K	possibly damaging	Het
Or4f7	A	C	2: 111,644,213 (GRCm39)	I286S	probably damaging	Het
Or5p52	C	T	7: 107,502,212 (GRCm39)	T96I	probably benign	Het
Or6c202	C	T	10: 128,996,707 (GRCm39)	D49N	possibly damaging	Het
Pde7a	T	C	3: 19,295,697 (GRCm39)		probably benign	Het
Pik3c2g	T	C	6: 139,903,519 (GRCm39)	C591R	probably benign	Het
Pkn2	T	G	3: 142,559,343 (GRCm39)	K61Q	probably damaging	Het
Ppp1cb	T	C	5: 32,644,958 (GRCm39)	V263A	probably damaging	Het
Rab11fip2	A	T	19: 59,895,567 (GRCm39)	N440K	possibly damaging	Het
Rbm34	T	A	8: 127,676,234 (GRCm39)	K340N	probably damaging	Het
Samd3	T	C	10: 26,147,399 (GRCm39)		probably benign	Het
Sfi1	TCGC	TC	11: 3,096,254 (GRCm39)		probably null	Het
Sigirr	T	C	7: 140,671,285 (GRCm39)	D399G	probably damaging	Het
Slc17a7	A	G	7: 44,824,371 (GRCm39)	E554G	probably benign	Het
Smc3	A	G	19: 53,589,993 (GRCm39)		probably benign	Het
Tdrd1	T	C	19: 56,819,703 (GRCm39)	Y68H	probably benign	Het
Tespa1	T	A	10: 130,196,719 (GRCm39)	L219Q	probably damaging	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Ttc38	A	G	15: 85,740,673 (GRCm39)	S436G	probably benign	Het
Ttn	T	A	2: 76,581,423 (GRCm39)	I23157F	probably damaging	Het
Ubxn2b	T	A	4: 6,203,875 (GRCm39)		probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vmn2r72	T	C	7: 85,401,044 (GRCm39)	E125G	probably benign	Het
Vmn2r78	A	T	7: 86,572,235 (GRCm39)	D532V	probably benign	Het
Vwa8	C	A	14: 79,320,222 (GRCm39)	L1078I	probably benign	Het
Vwce	A	T	19: 10,641,453 (GRCm39)		probably null	Het
Zpr1	A	G	9: 46,190,995 (GRCm39)	D300G	probably damaging	Het

Other mutations in Ppfia1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01626:Ppfia1	APN	7	144,035,456 (GRCm39)	missense	probably benign	0.00
IGL01771:Ppfia1	APN	7	144,036,094 (GRCm39)	missense	probably benign	0.36
IGL02220:Ppfia1	APN	7	144,035,512 (GRCm39)	missense	probably damaging	1.00
IGL02683:Ppfia1	APN	7	144,067,095 (GRCm39)	missense	probably damaging	0.99
IGL02752:Ppfia1	APN	7	144,073,341 (GRCm39)	missense	probably benign
PIT1430001:Ppfia1	UTSW	7	144,052,073 (GRCm39)	missense	probably damaging	1.00
R0304:Ppfia1	UTSW	7	144,036,082 (GRCm39)	missense	probably damaging	1.00
R0359:Ppfia1	UTSW	7	144,038,929 (GRCm39)	missense	probably damaging	0.97
R1836:Ppfia1	UTSW	7	144,073,368 (GRCm39)	missense	probably benign	0.19
R1934:Ppfia1	UTSW	7	144,058,847 (GRCm39)	missense	probably benign	0.12
R2195:Ppfia1	UTSW	7	144,069,844 (GRCm39)	missense	probably damaging	1.00
R3759:Ppfia1	UTSW	7	144,069,739 (GRCm39)	missense	probably benign	0.34
R3843:Ppfia1	UTSW	7	144,058,707 (GRCm39)	missense	probably benign	0.31
R4606:Ppfia1	UTSW	7	144,038,929 (GRCm39)	missense	probably damaging	0.97
R4820:Ppfia1	UTSW	7	144,052,106 (GRCm39)	missense	probably benign	0.33
R4898:Ppfia1	UTSW	7	144,045,313 (GRCm39)	missense	probably damaging	1.00
R5069:Ppfia1	UTSW	7	144,068,210 (GRCm39)	nonsense	probably null
R5070:Ppfia1	UTSW	7	144,068,210 (GRCm39)	nonsense	probably null
R5076:Ppfia1	UTSW	7	144,060,001 (GRCm39)	missense	probably damaging	1.00
R5280:Ppfia1	UTSW	7	144,038,832 (GRCm39)	missense	possibly damaging	0.84
R5473:Ppfia1	UTSW	7	144,045,229 (GRCm39)	missense	probably benign	0.17
R5656:Ppfia1	UTSW	7	144,073,711 (GRCm39)	critical splice donor site	probably null
R5818:Ppfia1	UTSW	7	144,074,305 (GRCm39)	intron	probably benign
R6104:Ppfia1	UTSW	7	144,045,311 (GRCm39)	missense	possibly damaging	0.95
R6299:Ppfia1	UTSW	7	144,064,049 (GRCm39)	missense	probably benign	0.11
R6474:Ppfia1	UTSW	7	144,059,942 (GRCm39)	missense	possibly damaging	0.89
R6705:Ppfia1	UTSW	7	144,072,911 (GRCm39)	missense	possibly damaging	0.93
R6734:Ppfia1	UTSW	7	144,032,790 (GRCm39)	missense	probably damaging	1.00
R7062:Ppfia1	UTSW	7	144,106,210 (GRCm39)	missense	probably benign
R7451:Ppfia1	UTSW	7	144,061,947 (GRCm39)	missense	probably benign
R7514:Ppfia1	UTSW	7	144,071,450 (GRCm39)	missense	probably benign	0.01
R7552:Ppfia1	UTSW	7	144,059,982 (GRCm39)	missense	probably damaging	1.00
R7633:Ppfia1	UTSW	7	144,106,173 (GRCm39)	missense	possibly damaging	0.89
R7886:Ppfia1	UTSW	7	144,073,020 (GRCm39)	missense	probably benign
R8038:Ppfia1	UTSW	7	144,068,653 (GRCm39)	missense	possibly damaging	0.67
R8139:Ppfia1	UTSW	7	144,074,430 (GRCm39)	missense	probably damaging	1.00
R8266:Ppfia1	UTSW	7	144,068,231 (GRCm39)	missense	possibly damaging	0.72
R8859:Ppfia1	UTSW	7	144,032,762 (GRCm39)	critical splice donor site	probably null
R9621:Ppfia1	UTSW	7	144,052,516 (GRCm39)	missense	probably damaging	1.00
R9722:Ppfia1	UTSW	7	144,071,402 (GRCm39)	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- ACGCCTCTCCAAAGTTACCTGCTG -3'
(R):5'- CACAGAGCTTCCTGGTGAAGTATGG -3'

Sequencing Primer
(F):5'- acaaacaaacaaacaaacaaacaaac -3'
(R):5'- CCTGGTGAAGTATGGCCTTG -3'

Posted On

2014-07-16