Mutagenetix > Incidental Mutation

Incidental Mutation 'R1836:Ppfia1'

205296

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

039863-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.897) question?

Stock #

R1836 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144030495-144107466 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 144073368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 208 (E208K)

Ref Sequence

ENSEMBL: ENSMUSP00000126233 (fasta)

Gene Model

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

AlphaFold

B2RXQ2

Predicted Effect

probably benign
Transcript: ENSMUST00000168134
AA Change: E208K

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000126233
Gene: ENSMUSG00000037519
AA Change: E208K

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: E208K

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000138312
Gene: ENSMUSG00000037519
AA Change: E208K

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

noncoding transcript
Transcript: ENSMUST00000183106

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.8%

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,471,493 (GRCm39)	E966G	probably benign	Het
9330159F19Rik	T	C	10: 29,097,795 (GRCm39)	V64A	probably damaging	Het
Abcb5	G	T	12: 118,831,696 (GRCm39)	Q1219K	possibly damaging	Het
Acox2	A	T	14: 8,248,059 (GRCm38)	C408S	possibly damaging	Het
Acsf3	T	A	8: 123,506,922 (GRCm39)	Y72N	probably damaging	Het
Acss2	T	A	2: 155,400,550 (GRCm39)	Y530N	probably damaging	Het
Adam28	T	C	14: 68,886,870 (GRCm39)	E48G	possibly damaging	Het
Adgrv1	A	C	13: 81,652,232 (GRCm39)	M2957R	probably benign	Het
Adi1	C	A	12: 28,729,562 (GRCm39)	D138E	probably benign	Het
Alk	A	C	17: 72,198,032 (GRCm39)	L1228R	probably damaging	Het
Alms1	T	A	6: 85,655,485 (GRCm39)	S3344T	possibly damaging	Het
Aox1	G	A	1: 58,348,150 (GRCm39)	A623T	probably benign	Het
Arhgef2	C	T	3: 88,546,766 (GRCm39)	T545I	probably damaging	Het
Atp8a2	T	A	14: 60,243,815 (GRCm39)	N630I	possibly damaging	Het
Bcl9	G	T	3: 97,113,186 (GRCm39)	Q1090K	probably damaging	Het
Bdp1	A	G	13: 100,171,653 (GRCm39)	S2152P	probably benign	Het
Birc6	T	A	17: 74,921,385 (GRCm39)	S2155T	probably benign	Het
Camk2b	T	C	11: 5,922,384 (GRCm39)	E488G	probably damaging	Het
Capn9	T	A	8: 125,332,304 (GRCm39)		probably null	Het
Cd209f	A	G	8: 4,154,491 (GRCm39)	S119P	probably damaging	Het
Cep78	T	C	19: 15,946,533 (GRCm39)	E433G	probably damaging	Het
Chid1	G	T	7: 141,106,409 (GRCm39)		probably null	Het
Cldnd2	T	C	7: 43,092,349 (GRCm39)	S129P	possibly damaging	Het
Cobll1	A	T	2: 64,956,580 (GRCm39)	F289Y	probably damaging	Het
Creb1	C	T	1: 64,590,109 (GRCm39)	Q32*	probably null	Het
Creb3l4	G	T	3: 90,146,210 (GRCm39)	S182Y	probably benign	Het
Dgcr2	A	T	16: 17,667,584 (GRCm39)	C292S	probably damaging	Het
Dnah8	T	C	17: 31,093,901 (GRCm39)	V4665A	possibly damaging	Het
Dnah9	A	T	11: 66,009,667 (GRCm39)	M740K	probably benign	Het
Dnmt1	G	A	9: 20,829,542 (GRCm39)	T687I	probably damaging	Het
Ece1	C	T	4: 137,685,312 (GRCm39)	R601W	probably damaging	Het
Echdc2	C	A	4: 108,022,732 (GRCm39)	R3S	probably damaging	Het
Ep400	A	T	5: 110,852,920 (GRCm39)	L1275Q	unknown	Het
Epha6	A	T	16: 60,026,108 (GRCm39)	W445R	probably damaging	Het
Ercc5	T	A	1: 44,220,035 (GRCm39)	S1102R	probably benign	Het
Fam228a	T	G	12: 4,765,620 (GRCm39)	T264P	probably damaging	Het
Fzd6	T	A	15: 38,897,315 (GRCm39)	I488N	probably damaging	Het
Gabrg3	T	G	7: 56,379,389 (GRCm39)	N338H	probably damaging	Het
Gde1	A	G	7: 118,294,357 (GRCm39)	F39L	possibly damaging	Het
Gjb3	G	A	4: 127,220,224 (GRCm39)	R103W	probably damaging	Het
Gm4781	T	A	10: 100,232,582 (GRCm39)		noncoding transcript	Het
Gm4846	T	A	1: 166,311,492 (GRCm39)	T456S	probably benign	Het
Gpx5	A	G	13: 21,471,624 (GRCm39)	I193T	probably benign	Het
H3c2	T	A	13: 23,936,715 (GRCm39)	V118D	probably damaging	Het
Herc2	A	T	7: 55,804,853 (GRCm39)	K2294*	probably null	Het
Iqgap3	T	A	3: 88,015,675 (GRCm39)	V19D	probably damaging	Het
Itga5	T	C	15: 103,254,441 (GRCm39)	I1006V	probably damaging	Het
Lamb1	C	T	12: 31,351,093 (GRCm39)	T781I	probably benign	Het
Lias	A	G	5: 65,549,686 (GRCm39)	T57A	probably benign	Het
Lin37	C	A	7: 30,256,368 (GRCm39)	R108L	probably damaging	Het
Lrrd1	A	T	5: 3,915,709 (GRCm39)	T769S	probably benign	Het
Mamstr	T	C	7: 45,294,387 (GRCm39)	W414R	probably damaging	Het
Mtmr11	T	G	3: 96,072,103 (GRCm39)	S233R	probably damaging	Het
Myh1	A	T	11: 67,095,648 (GRCm39)	I266F	probably damaging	Het
Myt1	C	A	2: 181,439,068 (GRCm39)	Q197K	probably benign	Het
Naip5	G	T	13: 100,356,195 (GRCm39)	T1140K	probably benign	Het
Ncf2	G	A	1: 152,683,822 (GRCm39)	V14M	probably damaging	Het
Ndufb11b	T	C	15: 81,865,068 (GRCm39)	V103A	probably damaging	Het
Nhsl1	G	T	10: 18,400,653 (GRCm39)	R626S	possibly damaging	Het
Nol12	T	A	15: 78,822,089 (GRCm39)	V108E	probably damaging	Het
Nr1i2	G	T	16: 38,069,644 (GRCm39)	P420Q	probably damaging	Het
Nup155	A	G	15: 8,184,464 (GRCm39)	I1286M	possibly damaging	Het
Ocrl	T	A	X: 47,050,993 (GRCm39)	I74N	probably damaging	Het
Or4c10b	A	C	2: 89,711,629 (GRCm39)	H153P	probably damaging	Het
Or51b17	A	G	7: 103,542,592 (GRCm39)	S117P	probably damaging	Het
Or5ak23	A	G	2: 85,244,749 (GRCm39)	V158A	probably benign	Het
Pard3b	C	T	1: 62,676,763 (GRCm39)	S999L	probably benign	Het
Pax9	A	G	12: 56,746,839 (GRCm39)	E225G	probably benign	Het
Pdcd4	T	G	19: 53,914,650 (GRCm39)	L335R	probably damaging	Het
Pdgfra	T	A	5: 75,343,675 (GRCm39)	M732K	possibly damaging	Het
Pkhd1	G	T	1: 20,187,293 (GRCm39)	Q3672K	probably benign	Het
Pold2	A	G	11: 5,823,454 (GRCm39)	L325P	possibly damaging	Het
Pom121l2	A	T	13: 22,167,954 (GRCm39)	T742S	probably benign	Het
Prex2	A	T	1: 11,207,004 (GRCm39)	R521W	probably damaging	Het
Prr23a4	C	A	9: 98,785,535 (GRCm39)	R67S	probably benign	Het
Rhpn2	T	C	7: 35,071,813 (GRCm39)	L226P	probably benign	Het
Rps12	C	A	10: 23,661,527 (GRCm39)	D95Y	probably damaging	Het
Sardh	T	A	2: 27,105,194 (GRCm39)	D643V	possibly damaging	Het
Sars1	T	C	3: 108,343,260 (GRCm39)	D77G	probably benign	Het
Scin	C	A	12: 40,174,697 (GRCm39)	V129F	probably damaging	Het
Semp2l1	T	G	1: 32,584,758 (GRCm39)	D384A	probably damaging	Het
Sftpa1	T	A	14: 40,854,803 (GRCm39)	M66K	possibly damaging	Het
Sgo1	T	C	17: 53,994,799 (GRCm39)	K28E	probably damaging	Het
Sim2	G	T	16: 93,924,436 (GRCm39)		probably null	Het
Srp54b	T	A	12: 55,296,945 (GRCm39)		probably null	Het
Stard7	T	C	2: 127,137,480 (GRCm39)	V310A	probably benign	Het
Tasp1	T	C	2: 139,793,477 (GRCm39)	D233G	probably damaging	Het
Tdrd6	G	T	17: 43,936,480 (GRCm39)	L1523M	probably benign	Het
Tle3	A	G	9: 61,321,305 (GRCm39)	D639G	probably damaging	Het
Tmem128	A	G	5: 38,417,750 (GRCm39)	D2G	probably damaging	Het
Tmem163	A	G	1: 127,605,246 (GRCm39)	S41P	probably benign	Het
Ttn	C	T	2: 76,559,505 (GRCm39)	S29632N	probably damaging	Het
Tuba4a	A	G	1: 75,192,754 (GRCm39)	S287P	probably benign	Het
Ubn1	G	C	16: 4,895,255 (GRCm39)	G767A	probably benign	Het
Ugdh	A	T	5: 65,577,634 (GRCm39)	C288*	probably null	Het
Upf2	T	A	2: 6,055,135 (GRCm39)		probably null	Het
Vmn1r2	T	C	4: 3,172,836 (GRCm39)	S252P	probably damaging	Het
Vmn1r28	A	C	6: 58,242,237 (GRCm39)	T27P	probably damaging	Het
Vmn1r77	T	C	7: 11,775,338 (GRCm39)	I38T	probably benign	Het
Vmn2r51	C	A	7: 9,832,090 (GRCm39)	E499*	probably null	Het
Vmn2r51	G	T	7: 9,832,091 (GRCm39)	Y498*	probably null	Het
Vmn2r53	A	T	7: 12,334,812 (GRCm39)	W283R	probably damaging	Het
Vpreb1a	T	A	16: 16,686,933 (GRCm39)	T15S	probably benign	Het
Vps13b	T	C	15: 35,910,378 (GRCm39)	S3381P	probably damaging	Het
Wnt2	A	T	6: 18,023,234 (GRCm39)	D138E	probably damaging	Het
Zdhhc22	A	G	12: 87,030,204 (GRCm39)	V248A	probably benign	Het
Zfp30	T	A	7: 29,492,805 (GRCm39)	I434N	probably damaging	Het
Zfp316	A	G	5: 143,239,178 (GRCm39)	L947P	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
R0081:Ppfia1	UTSW	7	144,058,711 (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
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'- TGTGTTCCTCAGTGGACACAC -3'
(R):5'- GATTCTGTCTCAGCCCTCAG -3'

Sequencing Primer
(F):5'- GTGGACACACACCTTAGTTGC -3'
(R):5'- AAGTACCTCTCTCTCTCTGCAGATG -3'

Posted On

2014-06-23