Incidental Mutation 'R5076:Ppfia1'
ID 395771
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 042665-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.918) question?
Stock # R5076 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 144476758-144553729 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 144506264 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 604 (R604W)
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: R579W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126233
Gene: ENSMUSG00000037519
AA Change: R579W

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: R604W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138312
Gene: ENSMUSG00000037519
AA Change: R604W

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 unknown
Transcript: ENSMUST00000182958
AA Change: R113W
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183183
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.0%
Validation Efficiency 97% (66/68)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik A G 3: 90,056,252 (GRCm38) I72V probably benign Het
Aadacl3 G A 4: 144,456,070 (GRCm38) P276L possibly damaging Het
Acp6 T A 3: 97,167,989 (GRCm38) S180T probably benign Het
Adgrd1 A T 5: 129,143,989 (GRCm38) R449* probably null Het
Ak1 T C 2: 32,633,448 (GRCm38) V176A probably damaging Het
Capzb A T 4: 139,287,814 (GRCm38) D226V possibly damaging Het
Cd34 A T 1: 194,948,030 (GRCm38) probably benign Het
Cdh15 C A 8: 122,864,348 (GRCm38) D445E possibly damaging Het
Chil4 A G 3: 106,202,597 (GRCm38) F367L probably damaging Het
Clstn2 T C 9: 97,483,079 (GRCm38) Y458C probably damaging Het
Ctsw T C 19: 5,468,458 (GRCm38) Y9C probably benign Het
Dhrs7 T C 12: 72,659,481 (GRCm38) D50G probably benign Het
Dnah14 A G 1: 181,757,234 (GRCm38) K3177E probably benign Het
Ehd1 T C 19: 6,277,221 (GRCm38) F83L probably benign Het
Eif5a2 G A 3: 28,782,737 (GRCm38) V59I possibly damaging Het
Emilin3 T A 2: 160,909,318 (GRCm38) probably null Het
Entpd8 A G 2: 25,085,054 (GRCm38) S426G possibly damaging Het
Epb41l4b C T 4: 57,040,984 (GRCm38) G493D probably damaging Het
Fam208b C T 13: 3,576,357 (GRCm38) V1198I probably benign Het
Gm11596 C T 11: 99,792,872 (GRCm38) G141R unknown Het
Gm1840 T G 8: 5,640,130 (GRCm38) noncoding transcript Het
H2-Q4 T C 17: 35,380,441 (GRCm38) Y167H probably damaging Het
Hjurp GT GTT 1: 88,266,524 (GRCm38) probably null Het
Itpr1 A G 6: 108,405,529 (GRCm38) probably null Het
Kif2c A T 4: 117,174,869 (GRCm38) probably benign Het
Klrb1-ps1 C T 6: 129,119,788 (GRCm38) noncoding transcript Het
Krtap9-5 A T 11: 99,949,468 (GRCm38) T332S unknown Het
Lrrc39 A T 3: 116,579,540 (GRCm38) E283V probably benign Het
Mdga1 A G 17: 29,850,554 (GRCm38) S447P possibly damaging Het
Mindy1 G A 3: 95,295,399 (GRCm38) V425M probably benign Het
Mllt6 G A 11: 97,669,500 (GRCm38) S210N possibly damaging Het
Mrps5 T A 2: 127,600,852 (GRCm38) Y280* probably null Het
Muc3a T A 5: 137,210,540 (GRCm38) T159S probably damaging Het
Olfr1252 T A 2: 89,721,401 (GRCm38) T237S probably damaging Het
Olfr1310 A T 2: 112,008,592 (GRCm38) M198K probably damaging Het
Olfr286 T A 15: 98,226,761 (GRCm38) I295F probably damaging Het
Pcdhga4 G A 18: 37,685,595 (GRCm38) V66I probably benign Het
Pdhx T C 2: 103,041,077 (GRCm38) T203A probably damaging Het
Pdss1 A G 2: 22,899,917 (GRCm38) probably null Het
Pdxk G T 10: 78,450,307 (GRCm38) Q103K probably benign Het
Peg3 A G 7: 6,708,420 (GRCm38) C1268R probably damaging Het
Pitpnc1 A T 11: 107,296,267 (GRCm38) S77T probably damaging Het
Pnisr T A 4: 21,874,990 (GRCm38) probably benign Het
Poc1b C T 10: 99,107,841 (GRCm38) T22I probably damaging Het
Ppp1r3a A G 6: 14,754,681 (GRCm38) F189S probably damaging Het
Rbks T A 5: 31,650,451 (GRCm38) Y99* probably null Het
Rsg1 A G 4: 141,217,385 (GRCm38) I82M probably benign Het
Sh3rf2 G T 18: 42,053,924 (GRCm38) C36F probably damaging Het
Spock3 T A 8: 63,345,855 (GRCm38) N303K probably damaging Het
Tcaf2 T C 6: 42,629,467 (GRCm38) T518A probably benign Het
Tmem163 A T 1: 127,500,276 (GRCm38) V191D probably damaging Het
Trappc6b A G 12: 59,050,308 (GRCm38) V76A probably damaging Het
Ube2nl A G 7: 61,549,532 (GRCm38) noncoding transcript Het
Unc5d C T 8: 28,694,676 (GRCm38) V599M possibly damaging Het
Vmn1r184 A T 7: 26,266,921 (GRCm38) M31L probably benign Het
Vrtn C A 12: 84,649,474 (GRCm38) Q333K probably damaging Het
Zfp788 T A 7: 41,648,584 (GRCm38) F163I possibly damaging Het
Zfyve1 C T 12: 83,555,647 (GRCm38) R458H probably damaging Het
Other mutations in Ppfia1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01626:Ppfia1 APN 7 144,481,719 (GRCm38) missense probably benign 0.00
IGL01771:Ppfia1 APN 7 144,482,357 (GRCm38) missense probably benign 0.36
IGL02220:Ppfia1 APN 7 144,481,775 (GRCm38) missense probably damaging 1.00
IGL02683:Ppfia1 APN 7 144,513,358 (GRCm38) missense probably damaging 0.99
IGL02752:Ppfia1 APN 7 144,519,604 (GRCm38) missense probably benign
PIT1430001:Ppfia1 UTSW 7 144,498,336 (GRCm38) missense probably damaging 1.00
R0081:Ppfia1 UTSW 7 144,504,974 (GRCm38) missense probably damaging 1.00
R0304:Ppfia1 UTSW 7 144,482,345 (GRCm38) missense probably damaging 1.00
R0359:Ppfia1 UTSW 7 144,485,192 (GRCm38) missense probably damaging 0.97
R1836:Ppfia1 UTSW 7 144,519,631 (GRCm38) missense probably benign 0.19
R1934:Ppfia1 UTSW 7 144,505,110 (GRCm38) missense probably benign 0.12
R2195:Ppfia1 UTSW 7 144,516,107 (GRCm38) missense probably damaging 1.00
R3759:Ppfia1 UTSW 7 144,516,002 (GRCm38) missense probably benign 0.34
R3843:Ppfia1 UTSW 7 144,504,970 (GRCm38) missense probably benign 0.31
R4606:Ppfia1 UTSW 7 144,485,192 (GRCm38) missense probably damaging 0.97
R4820:Ppfia1 UTSW 7 144,498,369 (GRCm38) missense probably benign 0.33
R4898:Ppfia1 UTSW 7 144,491,576 (GRCm38) missense probably damaging 1.00
R5069:Ppfia1 UTSW 7 144,514,473 (GRCm38) nonsense probably null
R5070:Ppfia1 UTSW 7 144,514,473 (GRCm38) nonsense probably null
R5280:Ppfia1 UTSW 7 144,485,095 (GRCm38) missense possibly damaging 0.84
R5473:Ppfia1 UTSW 7 144,491,492 (GRCm38) missense probably benign 0.17
R5656:Ppfia1 UTSW 7 144,519,974 (GRCm38) critical splice donor site probably null
R5818:Ppfia1 UTSW 7 144,520,568 (GRCm38) intron probably benign
R6104:Ppfia1 UTSW 7 144,491,574 (GRCm38) missense possibly damaging 0.95
R6299:Ppfia1 UTSW 7 144,510,312 (GRCm38) missense probably benign 0.11
R6474:Ppfia1 UTSW 7 144,506,205 (GRCm38) missense possibly damaging 0.89
R6705:Ppfia1 UTSW 7 144,519,174 (GRCm38) missense possibly damaging 0.93
R6734:Ppfia1 UTSW 7 144,479,053 (GRCm38) missense probably damaging 1.00
R7062:Ppfia1 UTSW 7 144,552,473 (GRCm38) missense probably benign
R7451:Ppfia1 UTSW 7 144,508,210 (GRCm38) missense probably benign
R7514:Ppfia1 UTSW 7 144,517,713 (GRCm38) missense probably benign 0.01
R7552:Ppfia1 UTSW 7 144,506,245 (GRCm38) missense probably damaging 1.00
R7633:Ppfia1 UTSW 7 144,552,436 (GRCm38) missense possibly damaging 0.89
R7886:Ppfia1 UTSW 7 144,519,283 (GRCm38) missense probably benign
R8038:Ppfia1 UTSW 7 144,514,916 (GRCm38) missense possibly damaging 0.67
R8139:Ppfia1 UTSW 7 144,520,693 (GRCm38) missense probably damaging 1.00
R8266:Ppfia1 UTSW 7 144,514,494 (GRCm38) missense possibly damaging 0.72
R8859:Ppfia1 UTSW 7 144,479,025 (GRCm38) critical splice donor site probably null
R9621:Ppfia1 UTSW 7 144,498,779 (GRCm38) missense probably damaging 1.00
R9722:Ppfia1 UTSW 7 144,517,665 (GRCm38) missense probably benign 0.26
Predicted Primers PCR Primer
(F):5'- GCTGTTCCTGAAGCATCATGG -3'
(R):5'- ATCACAGGATGCGTGCTTGC -3'

Sequencing Primer
(F):5'- TGAAGCATCATGGCCAGTGTC -3'
(R):5'- AAGTGTGCTCCAAAGTGTCC -3'
Posted On 2016-06-21