Incidental Mutation 'R6734:Ppfia1'
ID 528344
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 044852-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.897) question?
Stock # R6734 (G1)
Quality Score 186.009
Status Validated
Chromosome 7
Chromosomal Location 144030495-144107466 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144032790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1263 (T1263A)
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: T1238A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000126233
Gene: ENSMUSG00000037519
AA Change: T1238A

DomainStartEndE-ValueType
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: T1263A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138312
Gene: ENSMUSG00000037519
AA Change: T1263A

DomainStartEndE-ValueType
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: ENSMUST00000182958
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182982
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183063
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207298
Meta Mutation Damage Score 0.1282 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 100% (52/52)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Ano6 A G 15: 95,847,417 (GRCm39) K554R probably damaging Het
Arhgef10 A T 8: 15,025,053 (GRCm39) I703F probably damaging Het
Bbs1 T C 19: 4,953,924 (GRCm39) S80G probably benign Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Camk1 C A 6: 113,311,345 (GRCm39) R352L probably benign Het
Cand1 G A 10: 119,047,897 (GRCm39) P531L possibly damaging Het
Cnot2 G A 10: 116,334,058 (GRCm39) P371S possibly damaging Het
Col24a1 C A 3: 145,214,429 (GRCm39) P1384Q probably benign Het
Csmd2 C A 4: 128,357,606 (GRCm39) T1689K probably benign Het
Cyp26a1 T A 19: 37,689,660 (GRCm39) L452H probably damaging Het
Dcpp2 T C 17: 24,119,545 (GRCm39) Y120H probably damaging Het
Dennd6a G T 14: 26,329,774 (GRCm39) R115L possibly damaging Het
Eml2 T A 7: 18,934,432 (GRCm39) V377E probably benign Het
Fam135b T C 15: 71,334,629 (GRCm39) E855G probably benign Het
Fam149a A T 8: 45,834,478 (GRCm39) I107K probably benign Het
Fam227b A T 2: 125,968,896 (GRCm39) Y59* probably null Het
Fbn2 T C 18: 58,169,032 (GRCm39) E2249G probably damaging Het
Flrt1 T C 19: 7,073,524 (GRCm39) D341G possibly damaging Het
Galnt9 G A 5: 110,768,465 (GRCm39) R587H probably damaging Het
Gsdma2 A G 11: 98,540,416 (GRCm39) T112A possibly damaging Het
Klhl24 T C 16: 19,926,279 (GRCm39) V269A probably damaging Het
Lcorl A G 5: 45,890,839 (GRCm39) S505P probably damaging Het
Liph A G 16: 21,802,707 (GRCm39) S121P probably damaging Het
Lrp4 G A 2: 91,316,242 (GRCm39) V787M possibly damaging Het
Lrrd1 A C 5: 3,900,226 (GRCm39) D177A possibly damaging Het
Mbd1 G A 18: 74,409,114 (GRCm39) R399H probably damaging Het
Naa25 C T 5: 121,576,888 (GRCm39) T879M possibly damaging Het
Naa35 T G 13: 59,756,005 (GRCm39) L147R possibly damaging Het
Ninl C A 2: 150,787,003 (GRCm39) probably null Het
Nrap T C 19: 56,333,941 (GRCm39) D972G probably damaging Het
Or9k7 A G 10: 130,046,126 (GRCm39) F291S probably benign Het
Pdzd2 T C 15: 12,592,551 (GRCm39) E31G probably damaging Het
Plec C T 15: 76,078,603 (GRCm39) E41K probably damaging Het
Plxnb1 A T 9: 108,937,988 (GRCm39) K1245* probably null Het
Prex2 G A 1: 11,150,283 (GRCm39) V152I probably damaging Het
Prpf40b C T 15: 99,212,784 (GRCm39) R627W probably damaging Het
Prss3l T C 6: 41,422,321 (GRCm39) Y28C probably damaging Het
Prune2 T G 19: 16,981,097 (GRCm39) F85V probably damaging Het
Rrp1b T G 17: 32,274,278 (GRCm39) probably benign Het
Sec62 A G 3: 30,864,609 (GRCm39) T158A probably benign Het
Sema6a G A 18: 47,412,236 (GRCm39) T526I probably benign Het
Shank1 G T 7: 44,003,110 (GRCm39) A1610S probably benign Het
Slc24a4 T C 12: 102,185,259 (GRCm39) V123A probably damaging Het
Stk11ip T C 1: 75,509,013 (GRCm39) V714A probably benign Het
Tas1r3 T C 4: 155,945,257 (GRCm39) T655A probably damaging Het
Tns2 G T 15: 102,011,551 (GRCm39) L10F probably damaging Het
Trmt10c A G 16: 55,854,489 (GRCm39) V382A probably benign Het
Unc45a G C 7: 79,986,746 (GRCm39) T149R probably damaging Het
Zhx3 T G 2: 160,623,640 (GRCm39) I176L probably damaging Het
Zscan12 T A 13: 21,552,966 (GRCm39) C263* probably null Het
Other mutations in Ppfia1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GCACCAAGTGTCAGGAGAACTG -3'
(R):5'- CAGTTTCCAGGCTTTCAGGG -3'

Sequencing Primer
(F):5'- GCCAAGTGGACATGAACT -3'
(R):5'- TCCAGGCTTTCAGGGAGCTTC -3'
Posted On 2018-07-24