Mutagenetix > Incidental Mutation

Incidental Mutation 'R9621:Ppfia1'

724794

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: 0.897) question?

Stock #

R9621 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144030495-144107466 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144052516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 840 (S840P)

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: S815P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126233
Gene: ENSMUSG00000037519
AA Change: S815P

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: S840P

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

SMART Domains

Protein: ENSMUSP00000138312
Gene: ENSMUSG00000037519
AA Change: S840P

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 damaging
Transcript: ENSMUST00000182958
AA Change: S339P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,092,918 (GRCm39)	T289A	probably benign	Het
Adnp	A	T	2: 168,024,663 (GRCm39)	S877R	probably benign	Het
Akap13	T	A	7: 75,386,090 (GRCm39)	H555Q	probably benign	Het
Alg6	T	A	4: 99,615,131 (GRCm39)	Y38*	probably null	Het
Amtn	C	A	5: 88,528,205 (GRCm39)	Q93K	probably benign	Het
Ap2b1	T	C	11: 83,293,424 (GRCm39)	V937A	probably damaging	Het
Arih1	ATCGTCCGGCTCGTCCTCGTCGTCGTCC	ATCGTCC	9: 59,393,520 (GRCm39)		probably benign	Het
Atosa	A	G	9: 74,917,512 (GRCm39)	N711D	possibly damaging	Het
Bhmt	A	G	13: 93,758,079 (GRCm39)	S211P	possibly damaging	Het
Bltp3a	T	A	17: 28,105,753 (GRCm39)	S760T	probably benign	Het
Bmp1	T	C	14: 70,715,306 (GRCm39)	Y943C	probably benign	Het
Calcoco2	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,862 (GRCm39)		probably null	Het
Cbfb	A	C	8: 105,905,243 (GRCm39)	T62P	probably damaging	Het
Ccdc154	T	C	17: 25,386,355 (GRCm39)	F249L	probably damaging	Het
Cdh26	T	A	2: 178,111,983 (GRCm39)	F514L	probably damaging	Het
Cdhr2	A	G	13: 54,866,350 (GRCm39)	E352G		Het
Cep295nl	G	A	11: 118,224,766 (GRCm39)	P26L	possibly damaging	Het
Cfdp1	A	G	8: 112,571,807 (GRCm39)	V34A	probably damaging	Het
Cntnap2	A	T	6: 46,965,726 (GRCm39)	I846F	probably damaging	Het
Cntrl	A	G	2: 35,050,278 (GRCm39)	K1464E	probably damaging	Het
Crybg3	T	C	16: 59,326,613 (GRCm39)	D1039G	possibly damaging	Het
Csmd3	A	T	15: 47,713,116 (GRCm39)	S778R		Het
Daam2	C	T	17: 49,780,332 (GRCm39)	C729Y	probably damaging	Het
Ddx18	T	C	1: 121,489,132 (GRCm39)	H305R	probably damaging	Het
Dio1	C	T	4: 107,149,558 (GRCm39)	C248Y	probably benign	Het
Dnah1	C	A	14: 31,016,772 (GRCm39)	A1582S	probably damaging	Het
Eef1a1	A	T	9: 78,386,632 (GRCm39)	D319E	probably benign	Het
Fam171b	G	A	2: 83,643,109 (GRCm39)	R6H	probably damaging	Het
Flnb	G	A	14: 7,926,421 (GRCm38)	G1822R	probably damaging	Het
Gabrb1	G	A	5: 72,279,363 (GRCm39)	V303I	possibly damaging	Het
Gli3	T	G	13: 15,901,253 (GRCm39)	S1547A	probably benign	Het
Gm4884	A	T	7: 40,693,111 (GRCm39)	N360I	possibly damaging	Het
Ift70b	T	C	2: 75,768,144 (GRCm39)	Y203C	probably damaging	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,366,470 (GRCm39)		probably benign	Het
Ino80	C	G	2: 119,280,496 (GRCm39)	K289N	probably damaging	Het
Itpr1	G	A	6: 108,393,870 (GRCm39)	E1638K	probably damaging	Het
Jakmip1	A	T	5: 37,274,812 (GRCm39)	I45F	unknown	Het
Kif1a	G	A	1: 92,983,445 (GRCm39)	P684L	probably benign	Het
Kpnb1	A	T	11: 97,058,460 (GRCm39)	S610T	probably benign	Het
Man1a2	A	G	3: 100,591,961 (GRCm39)	V73A	probably benign	Het
Mbtps1	A	G	8: 120,235,621 (GRCm39)	V1019A	possibly damaging	Het
Muc21	T	A	17: 35,932,720 (GRCm39)	T489S	unknown	Het
Nup210	G	C	6: 90,994,375 (GRCm39)	N1774K	probably benign	Het
Or10p21	G	T	10: 128,847,759 (GRCm39)	V202F	probably benign	Het
Pik3c2b	T	C	1: 132,999,345 (GRCm39)	S398P	probably damaging	Het
Pmpca	A	G	2: 26,279,988 (GRCm39)	T37A	probably benign	Het
Prkcq	A	T	2: 11,261,014 (GRCm39)	K355N	probably benign	Het
Prorp	C	A	12: 55,429,042 (GRCm39)	H538N	probably benign	Het
Ptprg	A	G	14: 12,237,809 (GRCm38)	K1422R	probably benign	Het
Ptprq	T	C	10: 107,378,523 (GRCm39)	E2006G	probably damaging	Het
Qsox1	TG	T	1: 155,671,135 (GRCm39)		probably null	Het
Rcor2	A	T	19: 7,251,591 (GRCm39)	T412S	probably benign	Het
Rnf224	A	T	2: 25,126,200 (GRCm39)	M51K	probably benign	Het
Robo4	A	G	9: 37,317,509 (GRCm39)	D521G	probably damaging	Het
Sf3b4	T	A	3: 96,084,115 (GRCm39)	S360T	unknown	Het
Sgo2b	T	C	8: 64,380,651 (GRCm39)	D727G	probably damaging	Het
Smpd2	C	A	10: 41,364,283 (GRCm39)	V172L	probably benign	Het
Spring1	C	T	5: 118,393,880 (GRCm39)	T86I	possibly damaging	Het
Syne1	C	T	10: 5,273,887 (GRCm39)	A1966T	probably benign	Het
Syt13	G	A	2: 92,745,575 (GRCm39)	G15D	possibly damaging	Het
Taf3	A	T	2: 9,923,070 (GRCm39)	L18Q	unknown	Het
Tcam1	T	A	11: 106,176,259 (GRCm39)	N328K	probably damaging	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tet2	A	T	3: 133,193,767 (GRCm39)	Y222*	probably null	Het
Timm29	A	T	9: 21,504,218 (GRCm39)		probably benign	Het
Tmc6	T	C	11: 117,669,995 (GRCm39)	D17G	probably benign	Het
Tmem30a	T	A	9: 79,687,926 (GRCm39)	D81V	probably benign	Het
Tnnt1	T	C	7: 4,511,501 (GRCm39)	I195V	probably benign	Het
Ttll5	T	A	12: 85,938,896 (GRCm39)	V398E	possibly damaging	Het
Ttn	T	C	2: 76,748,441 (GRCm39)	T4203A	possibly damaging	Het
Ubc	A	G	5: 125,464,511 (GRCm39)	I272T	probably damaging	Het
Unc45a	A	G	7: 79,983,785 (GRCm39)	L337P	probably damaging	Het
Vmn1r229	T	C	17: 21,035,315 (GRCm39)	F187L	probably benign	Het
Wrn	A	T	8: 33,814,301 (GRCm39)	M381K	probably benign	Het
Zdbf2	A	G	1: 63,342,635 (GRCm39)	N338S	possibly damaging	Het
Zfp541	A	G	7: 15,805,892 (GRCm39)	E9G	possibly damaging	Het
Zrsr2-ps1	G	A	11: 22,923,418 (GRCm39)	R64Q	possibly damaging	Het
Zswim8	T	A	14: 20,772,231 (GRCm39)	S1614T	probably benign	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
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
R9722:Ppfia1	UTSW	7	144,071,402 (GRCm39)	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- TCTGAACTGCTAGCGATTGC -3'
(R):5'- TGTTGTGATGCAGACTCCTG -3'

Sequencing Primer
(F):5'- TTCCCTAGAGATCATCCAGTAGCATG -3'
(R):5'- CAGACTCCTGTGTTGTGATACAGC -3'

Posted On

2022-09-12