Incidental Mutation 'R7062:Ppfia1'
ID 548340
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 045158-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.897) question?
Stock # R7062 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 144030495-144107466 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144106210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 21 (S21G)
Ref Sequence ENSEMBL: ENSMUSP00000138312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168134] [ENSMUST00000182226] [ENSMUST00000182731]
AlphaFold B2RXQ2
Predicted Effect probably benign
Transcript: ENSMUST00000168134
AA Change: S21G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126233
Gene: ENSMUSG00000037519
AA Change: S21G

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 benign
Transcript: ENSMUST00000182226
AA Change: S21G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138312
Gene: ENSMUSG00000037519
AA Change: S21G

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: ENSMUST00000182731
SMART Domains Protein: ENSMUSP00000138238
Gene: ENSMUSG00000037519

DomainStartEndE-ValueType
coiled coil region 32 67 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (86/87)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T A 6: 142,544,872 (GRCm39) D1370V probably damaging Het
Ackr1 A T 1: 173,159,682 (GRCm39) I279N possibly damaging Het
Adcy10 A G 1: 165,366,091 (GRCm39) H536R probably benign Het
Adgrb3 T C 1: 25,865,166 (GRCm39) T226A possibly damaging Het
Apol10b T A 15: 77,469,473 (GRCm39) M235L probably benign Het
Arhgap44 T C 11: 64,902,758 (GRCm39) T570A probably benign Het
Astn1 A G 1: 158,516,081 (GRCm39) probably null Het
Camsap3 A G 8: 3,657,834 (GRCm39) probably benign Het
Ccdc73 C T 2: 104,782,223 (GRCm39) A193V probably damaging Het
Ccl20 G A 1: 83,095,535 (GRCm39) C32Y probably damaging Het
Cdk11b A G 4: 155,711,268 (GRCm39) E16G probably damaging Het
Celsr2 T A 3: 108,309,826 (GRCm39) N1591I possibly damaging Het
Col5a2 T C 1: 45,456,785 (GRCm39) E306G probably benign Het
Cpa1 C T 6: 30,640,676 (GRCm39) A106V probably benign Het
Ctdspl G A 9: 118,866,538 (GRCm39) R199H probably damaging Het
Cyfip2 G A 11: 46,151,659 (GRCm39) P547S probably damaging Het
Cyp2c37 A T 19: 39,983,990 (GRCm39) probably null Het
Dnajc16 A G 4: 141,494,001 (GRCm39) F549L probably damaging Het
Dnm3 T A 1: 161,962,060 (GRCm39) K50* probably null Het
Eci1 C T 17: 24,645,714 (GRCm39) probably benign Het
Eif2b4 C T 5: 31,350,175 (GRCm39) C49Y probably benign Het
Emc3 A T 6: 113,499,757 (GRCm39) I56N probably damaging Het
Enthd1 A G 15: 80,336,745 (GRCm39) L563P probably damaging Het
Ercc4 T A 16: 12,950,811 (GRCm39) I635K probably damaging Het
Espl1 A C 15: 102,207,331 (GRCm39) N265T probably benign Het
Fads2 T C 19: 10,042,962 (GRCm39) probably null Het
Fam186a G A 15: 99,831,521 (GRCm39) probably benign Het
Fastkd1 A T 2: 69,534,666 (GRCm39) I368K possibly damaging Het
Fat1 G A 8: 45,403,253 (GRCm39) M1I probably null Het
Foxj1 T C 11: 116,222,819 (GRCm39) E328G probably benign Het
Gfod2 T C 8: 106,449,508 (GRCm39) probably benign Het
Gm6525 C T 3: 84,082,198 (GRCm39) R40C probably benign Het
Gna12 G A 5: 140,771,240 (GRCm39) T144I probably benign Het
Ighv9-3 T C 12: 114,104,712 (GRCm39) M11V probably benign Het
Kcnj14 T C 7: 45,467,314 (GRCm39) Y344C probably damaging Het
Lrrc63 A T 14: 75,323,737 (GRCm39) S496T probably benign Het
Ltn1 T C 16: 87,224,491 (GRCm39) T78A probably damaging Het
Matr3 T A 18: 35,712,072 (GRCm39) probably null Het
Mcpt4 A G 14: 56,298,125 (GRCm39) M142T probably benign Het
Mroh7 A G 4: 106,541,177 (GRCm39) F1154S probably damaging Het
Mrpl1 G T 5: 96,361,650 (GRCm39) L12F probably benign Het
Myo3b G A 2: 70,047,501 (GRCm39) V308I probably benign Het
Nfasc A G 1: 132,529,707 (GRCm39) probably null Het
Npc1l1 T A 11: 6,167,807 (GRCm39) M995L probably benign Het
Nvl A G 1: 180,939,899 (GRCm39) I617T probably benign Het
Oas1h C A 5: 120,999,528 (GRCm39) probably benign Het
Oasl2 T A 5: 115,049,152 (GRCm39) Y197* probably null Het
Or4k1 A G 14: 50,377,907 (GRCm39) L63P probably damaging Het
Or52ab7 T C 7: 102,978,293 (GRCm39) V200A probably benign Het
Or5an1c T C 19: 12,218,089 (GRCm39) N312S probably benign Het
Or5l13 T C 2: 87,780,568 (GRCm39) E3G probably benign Het
Or5p70 C T 7: 107,995,037 (GRCm39) R237* probably null Het
Or8g35 A T 9: 39,381,353 (GRCm39) I223N probably benign Het
Orc6 T C 8: 86,029,537 (GRCm39) V27A probably damaging Het
Parp4 A T 14: 56,852,216 (GRCm39) R799S possibly damaging Het
Pcdhga1 C A 18: 37,958,130 (GRCm39) S826R probably damaging Het
Phldb1 T C 9: 44,607,432 (GRCm39) R1258G probably damaging Het
Ppp1r18 C A 17: 36,179,103 (GRCm39) T326K probably damaging Het
Psg26 A G 7: 18,216,521 (GRCm39) L106P probably damaging Het
Rabgap1l A T 1: 160,054,220 (GRCm39) D265E probably benign Het
Rasgrp4 T C 7: 28,849,619 (GRCm39) L554P possibly damaging Het
Rnf17 G T 14: 56,703,111 (GRCm39) V621L probably benign Het
Sart3 T C 5: 113,883,663 (GRCm39) K783R possibly damaging Het
Slc23a2 T A 2: 131,933,189 (GRCm39) I90F probably damaging Het
Slc5a2 A T 7: 127,869,212 (GRCm39) M331L probably damaging Het
Slc5a7 C G 17: 54,600,029 (GRCm39) G128A probably damaging Het
Smcr8 A T 11: 60,671,180 (GRCm39) Q776L probably damaging Het
Smpd4 T A 16: 17,458,835 (GRCm39) D519E probably damaging Het
Smurf1 A T 5: 144,830,356 (GRCm39) probably null Het
Spata18 T A 5: 73,816,636 (GRCm39) N125K probably benign Het
Spice1 T A 16: 44,178,259 (GRCm39) M94K probably damaging Het
Stard4 T C 18: 33,338,587 (GRCm39) probably null Het
Stx17 A G 4: 48,140,442 (GRCm39) D49G probably benign Het
Tbce T C 13: 14,194,380 (GRCm39) D93G possibly damaging Het
Tbx21 T A 11: 96,989,719 (GRCm39) D491V probably damaging Het
Tmbim4 G T 10: 120,044,731 (GRCm39) probably benign Het
Tmem209 C T 6: 30,502,016 (GRCm39) R62H probably damaging Het
Tmem237 A T 1: 59,158,771 (GRCm39) probably null Het
Tmprss9 T C 10: 80,730,883 (GRCm39) I803T probably benign Het
Trip4 C T 9: 65,792,292 (GRCm39) A7T probably benign Het
Unc13a T C 8: 72,115,881 (GRCm39) D107G probably benign Het
Uso1 C A 5: 92,340,599 (GRCm39) Q672K possibly damaging Het
Washc2 T A 6: 116,196,949 (GRCm39) N239K possibly damaging Het
Zfp661 A G 2: 127,419,040 (GRCm39) C367R probably damaging Het
Znrf3 T A 11: 5,231,550 (GRCm39) E558D probably damaging 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
R6734:Ppfia1 UTSW 7 144,032,790 (GRCm39) missense probably damaging 1.00
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'- GTGCAGTATTGAGCTGCCTC -3'
(R):5'- TCCAGAGTGGATGATCGTCACG -3'

Sequencing Primer
(F):5'- CTGCAAAGAATCTCTTTCATGACC -3'
(R):5'- ATGATCGTCACGGATAGCTC -3'
Posted On 2019-05-13