Incidental Mutation 'R5898:Fap'
ID 457631
Institutional Source Beutler Lab
Gene Symbol Fap
Ensembl Gene ENSMUSG00000000392
Gene Name fibroblast activation protein
Synonyms
MMRRC Submission 044097-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5898 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 62331280-62404365 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62403847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 9 (F9L)
Ref Sequence ENSEMBL: ENSMUSP00000134386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000402] [ENSMUST00000102732] [ENSMUST00000173745] [ENSMUST00000174234] [ENSMUST00000174448]
AlphaFold P97321
Predicted Effect probably benign
Transcript: ENSMUST00000000402
AA Change: F9L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000000402
Gene: ENSMUSG00000000392
AA Change: F9L

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
Pfam:DPPIV_N 73 440 2e-110 PFAM
Pfam:Abhydrolase_5 504 719 2.4e-12 PFAM
Pfam:Abhydrolase_6 515 703 2.3e-10 PFAM
Pfam:Peptidase_S9 520 727 9.4e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102732
AA Change: F9L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099793
Gene: ENSMUSG00000000392
AA Change: F9L

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:DPPIV_N 106 473 1.9e-106 PFAM
Pfam:Abhydrolase_5 537 752 2.9e-12 PFAM
Pfam:Peptidase_S9 553 760 1.5e-61 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136297
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152085
Predicted Effect probably benign
Transcript: ENSMUST00000173745
SMART Domains Protein: ENSMUSP00000134305
Gene: ENSMUSG00000000392

DomainStartEndE-ValueType
Pfam:DPPIV_N 12 63 2.9e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174234
AA Change: F9L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133792
Gene: ENSMUSG00000000392
AA Change: F9L

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:DPPIV_N 82 448 4.1e-108 PFAM
Pfam:Abhydrolase_5 512 727 6.4e-12 PFAM
Pfam:Abhydrolase_6 523 711 8.9e-10 PFAM
Pfam:Peptidase_S9 528 735 5.9e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174448
AA Change: F9L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134386
Gene: ENSMUSG00000000392
AA Change: F9L

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:DPPIV_N 101 468 2.2e-110 PFAM
Pfam:Abhydrolase_5 532 747 2.5e-12 PFAM
Pfam:Abhydrolase_6 541 731 2.4e-10 PFAM
Pfam:Peptidase_S9 548 755 1e-59 PFAM
Meta Mutation Damage Score 0.0623 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 96% (86/90)
MGI Phenotype FUNCTION: This gene belongs to the serine protease family. The encoded protein is an inducible cell-surface bound glycoprotein specifically expressed in tumor-associated fibroblasts and pericytes of epithelial tumors and has protease and gelatinase activity. The protein plays a role in remodeling of the extracellular matrix (ECM) and may affect tumorigenesis and tissue repair. Alternately spliced transcript variants of this gene are described in the literature (PMID 9139873), but the full-length sequence of these variants is not available. [provided by RefSeq, Apr 2013]
PHENOTYPE: Mice homozygous for a targeted null mutations exhibit no discernable phenotype; mice are viable and fertile with no change in cancer susceptibility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik G T 10: 100,448,762 (GRCm39) R158L possibly damaging Het
1700017N19Rik G A 10: 100,451,070 (GRCm39) M179I probably benign Het
Abhd12 T C 2: 150,681,698 (GRCm39) I231V possibly damaging Het
Adsl A G 15: 80,845,554 (GRCm39) probably null Het
Ahnak C A 19: 8,991,131 (GRCm39) N4138K possibly damaging Het
Ahnak T C 19: 8,995,575 (GRCm39) S5620P probably damaging Het
Akap13 C T 7: 75,378,894 (GRCm39) T2145I probably damaging Het
Alpk2 T A 18: 65,440,694 (GRCm39) Q700L probably damaging Het
Apobec1 T C 6: 122,557,732 (GRCm39) Y159C probably damaging Het
Atg9a T C 1: 75,162,916 (GRCm39) T395A probably damaging Het
Atp6v1f A G 6: 29,467,957 (GRCm39) I48V probably benign Het
BC051665 A C 13: 60,930,518 (GRCm39) V278G probably damaging Het
Bicd1 A T 6: 149,415,201 (GRCm39) H638L probably damaging Het
Cacna2d4 A G 6: 119,251,192 (GRCm39) Y460C probably damaging Het
Ccdc157 C A 11: 4,094,538 (GRCm39) R496L probably benign Het
Cdcp3 T G 7: 130,843,696 (GRCm39) probably null Het
Cep44 C G 8: 56,994,056 (GRCm39) V174L probably damaging Het
Clca3a1 G T 3: 144,722,522 (GRCm39) F283L possibly damaging Het
Csk T C 9: 57,537,585 (GRCm39) T110A probably benign Het
Cspg4 T A 9: 56,792,506 (GRCm39) probably null Het
Cutc A G 19: 43,748,468 (GRCm39) I124V probably benign Het
Cyp2d9 A G 15: 82,339,725 (GRCm39) T104A probably benign Het
Cyp2j9 G T 4: 96,465,951 (GRCm39) T294K probably benign Het
D630003M21Rik T A 2: 158,046,577 (GRCm39) probably null Het
Dcaf15 G T 8: 84,825,081 (GRCm39) F450L probably damaging Het
Ddhd1 A T 14: 45,840,125 (GRCm39) I723K probably damaging Het
Dnah17 C T 11: 118,005,039 (GRCm39) A782T probably benign Het
Dnah3 T C 7: 119,677,724 (GRCm39) D399G probably benign Het
Dync2h1 T C 9: 7,148,717 (GRCm39) N909S probably benign Het
Erbin A G 13: 103,975,813 (GRCm39) probably null Het
Fanci G A 7: 79,083,069 (GRCm39) V682I probably benign Het
Fat3 T C 9: 15,849,757 (GRCm39) I3882V probably benign Het
Fkbp15 A T 4: 62,244,294 (GRCm39) probably null Het
Fsd2 T C 7: 81,186,975 (GRCm39) Y601C probably damaging Het
Gm5900 T C 7: 104,599,468 (GRCm39) noncoding transcript Het
Gramd4 G T 15: 85,984,985 (GRCm39) G82V probably damaging Het
Hc C T 2: 34,887,449 (GRCm39) V1352I probably benign Het
Hsph1 A T 5: 149,548,623 (GRCm39) N466K probably damaging Het
Ice2 T A 9: 69,315,544 (GRCm39) D133E probably benign Het
Ifi213 T C 1: 173,396,545 (GRCm39) M510V probably benign Het
Itpkb T G 1: 180,248,880 (GRCm39) L861R probably damaging Het
Kbtbd3 T A 9: 4,330,476 (GRCm39) D283E probably damaging Het
Man2a1 A G 17: 64,932,375 (GRCm39) K154R probably benign Het
Masp1 T A 16: 23,310,677 (GRCm39) I252F probably damaging Het
Megf11 G T 9: 64,593,246 (GRCm39) C586F probably damaging Het
Myh2 C A 11: 67,083,545 (GRCm39) A1476E possibly damaging Het
Myo18b A T 5: 112,950,196 (GRCm39) probably null Het
Naip6 A T 13: 100,435,829 (GRCm39) V898E possibly damaging Het
Nav1 T C 1: 135,512,884 (GRCm39) M59V probably benign Het
Nlrp3 A T 11: 59,437,678 (GRCm39) Y119F probably benign Het
Oxa1l T A 14: 54,600,758 (GRCm39) I77N possibly damaging Het
Pcdhb8 T A 18: 37,490,537 (GRCm39) D738E possibly damaging Het
Pdia5 A T 16: 35,243,335 (GRCm39) W269R probably damaging Het
Peak1 T A 9: 56,114,622 (GRCm39) T1440S probably benign Het
Piezo1 A G 8: 123,214,682 (GRCm39) V1547A probably benign Het
Pkp1 T C 1: 135,810,259 (GRCm39) Y437C probably damaging Het
Pla2r1 T C 2: 60,253,104 (GRCm39) D1329G probably damaging Het
Ppip5k2 T C 1: 97,671,887 (GRCm39) probably benign Het
Prrg4 C T 2: 104,675,378 (GRCm39) S75N probably benign Het
Psmb9 T A 17: 34,401,266 (GRCm39) I198F probably damaging Het
Rcbtb2 T A 14: 73,399,405 (GRCm39) L23* probably null Het
Sbno1 A T 5: 124,524,854 (GRCm39) probably benign Het
Scn3a T C 2: 65,345,039 (GRCm39) E483G probably damaging Het
Sdccag8 T A 1: 176,652,388 (GRCm39) D46E probably benign Het
Selenov A G 7: 27,987,579 (GRCm39) F293L probably damaging Het
Septin2 A C 1: 93,407,023 (GRCm39) D20A probably benign Het
Shc1 T A 3: 89,334,274 (GRCm39) Y313* probably null Het
Siglec1 T A 2: 130,915,553 (GRCm39) Y1346F probably damaging Het
Slc22a5 T A 11: 53,764,559 (GRCm39) I296F probably damaging Het
Slc9c1 A G 16: 45,365,123 (GRCm39) N152S probably damaging Het
Smoc1 C T 12: 81,151,531 (GRCm39) R83* probably null Het
Ssx2ip A G 3: 146,133,586 (GRCm39) D227G possibly damaging Het
Tbrg4 T C 11: 6,567,372 (GRCm39) D576G probably damaging Het
Tbx20 T A 9: 24,670,155 (GRCm39) Y226F probably damaging Het
Trav10d G T 14: 53,048,929 (GRCm39) A107S probably damaging Het
Trim60 A T 8: 65,453,016 (GRCm39) L411* probably null Het
Ttbk2 A T 2: 120,575,521 (GRCm39) V1083D probably benign Het
Unc93a T A 17: 13,344,464 (GRCm39) Q26L probably damaging Het
Usp14 T A 18: 10,022,819 (GRCm39) N65I possibly damaging Het
Vip A T 10: 5,593,988 (GRCm39) S114C probably damaging Het
Vmn1r237 A T 17: 21,534,813 (GRCm39) I179F probably damaging Het
Wdr47 T A 3: 108,545,201 (GRCm39) probably null Het
Zfp975 A T 7: 42,311,963 (GRCm39) C217S probably damaging Het
Other mutations in Fap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Fap APN 2 62,354,545 (GRCm39) missense possibly damaging 0.82
IGL01420:Fap APN 2 62,334,846 (GRCm39) splice site probably benign
IGL01485:Fap APN 2 62,374,655 (GRCm39) missense possibly damaging 0.80
IGL01987:Fap APN 2 62,359,020 (GRCm39) missense probably damaging 1.00
IGL02198:Fap APN 2 62,385,142 (GRCm39) missense probably benign
IGL02355:Fap APN 2 62,403,842 (GRCm39) missense probably benign 0.02
IGL02362:Fap APN 2 62,403,842 (GRCm39) missense probably benign 0.02
IGL03227:Fap APN 2 62,361,107 (GRCm39) critical splice acceptor site probably null
IGL03266:Fap APN 2 62,367,366 (GRCm39) missense probably benign
IGL03369:Fap APN 2 62,333,699 (GRCm39) splice site probably benign
IGL03406:Fap APN 2 62,372,466 (GRCm39) splice site probably benign
mnemosyne UTSW 2 62,359,058 (GRCm39) missense probably damaging 1.00
R1467_Fap_571 UTSW 2 62,347,964 (GRCm39) missense probably benign 0.18
R4812_Fap_496 UTSW 2 62,349,365 (GRCm39) missense probably damaging 1.00
R5661_fap_070 UTSW 2 62,367,307 (GRCm39) intron probably benign
ANU74:Fap UTSW 2 62,378,113 (GRCm39) missense probably damaging 1.00
R0254:Fap UTSW 2 62,333,746 (GRCm39) missense probably damaging 1.00
R0842:Fap UTSW 2 62,367,345 (GRCm39) missense probably damaging 1.00
R1467:Fap UTSW 2 62,347,964 (GRCm39) missense probably benign 0.18
R1467:Fap UTSW 2 62,347,964 (GRCm39) missense probably benign 0.18
R1591:Fap UTSW 2 62,384,201 (GRCm39) missense probably damaging 0.99
R1671:Fap UTSW 2 62,384,179 (GRCm39) missense possibly damaging 0.46
R1674:Fap UTSW 2 62,349,349 (GRCm39) missense probably benign
R1795:Fap UTSW 2 62,378,933 (GRCm39) missense probably damaging 1.00
R1869:Fap UTSW 2 62,359,071 (GRCm39) missense probably damaging 1.00
R2032:Fap UTSW 2 62,372,581 (GRCm39) missense probably benign 0.43
R2136:Fap UTSW 2 62,354,551 (GRCm39) missense possibly damaging 0.94
R3546:Fap UTSW 2 62,349,355 (GRCm39) missense probably damaging 1.00
R3547:Fap UTSW 2 62,349,355 (GRCm39) missense probably damaging 1.00
R3771:Fap UTSW 2 62,363,354 (GRCm39) missense probably damaging 1.00
R3801:Fap UTSW 2 62,376,994 (GRCm39) missense probably benign 0.04
R3910:Fap UTSW 2 62,386,448 (GRCm39) missense probably damaging 1.00
R4306:Fap UTSW 2 62,361,051 (GRCm39) critical splice donor site probably null
R4323:Fap UTSW 2 62,333,716 (GRCm39) missense probably damaging 0.97
R4517:Fap UTSW 2 62,361,059 (GRCm39) missense probably benign 0.01
R4793:Fap UTSW 2 62,374,713 (GRCm39) missense probably damaging 1.00
R4812:Fap UTSW 2 62,349,365 (GRCm39) missense probably damaging 1.00
R4843:Fap UTSW 2 62,374,718 (GRCm39) missense probably damaging 1.00
R5281:Fap UTSW 2 62,363,305 (GRCm39) critical splice donor site probably null
R5661:Fap UTSW 2 62,367,307 (GRCm39) intron probably benign
R5696:Fap UTSW 2 62,332,803 (GRCm39) missense probably damaging 1.00
R5750:Fap UTSW 2 62,359,058 (GRCm39) missense probably damaging 1.00
R5907:Fap UTSW 2 62,374,700 (GRCm39) missense probably damaging 1.00
R5944:Fap UTSW 2 62,372,605 (GRCm39) missense probably damaging 1.00
R5991:Fap UTSW 2 62,348,865 (GRCm39) missense probably damaging 1.00
R6110:Fap UTSW 2 62,385,114 (GRCm39) missense possibly damaging 0.91
R6270:Fap UTSW 2 62,378,132 (GRCm39) missense probably damaging 0.98
R6505:Fap UTSW 2 62,376,947 (GRCm39) nonsense probably null
R6631:Fap UTSW 2 62,333,725 (GRCm39) missense probably damaging 1.00
R6896:Fap UTSW 2 62,334,944 (GRCm39) nonsense probably null
R7138:Fap UTSW 2 62,372,522 (GRCm39) missense probably benign 0.10
R7806:Fap UTSW 2 62,333,758 (GRCm39) missense probably damaging 1.00
R8000:Fap UTSW 2 62,333,142 (GRCm39) critical splice donor site probably null
R8115:Fap UTSW 2 62,349,385 (GRCm39) missense probably benign 0.07
R8737:Fap UTSW 2 62,342,777 (GRCm39) missense probably benign 0.00
R8899:Fap UTSW 2 62,348,817 (GRCm39) missense probably damaging 1.00
R8924:Fap UTSW 2 62,378,165 (GRCm39) missense probably benign
R8972:Fap UTSW 2 62,378,927 (GRCm39) missense probably benign 0.02
R8998:Fap UTSW 2 62,367,368 (GRCm39) missense probably benign 0.12
R8999:Fap UTSW 2 62,367,368 (GRCm39) missense probably benign 0.12
R9418:Fap UTSW 2 62,385,181 (GRCm39) nonsense probably null
R9521:Fap UTSW 2 62,372,500 (GRCm39) missense probably benign
R9686:Fap UTSW 2 62,403,857 (GRCm39) missense possibly damaging 0.86
X0017:Fap UTSW 2 62,386,524 (GRCm39) missense probably benign 0.04
X0026:Fap UTSW 2 62,342,734 (GRCm39) missense probably damaging 1.00
Z1176:Fap UTSW 2 62,359,118 (GRCm39) missense possibly damaging 0.87
Z1177:Fap UTSW 2 62,332,790 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGGTCTTACACACAACATAACTG -3'
(R):5'- TAGCAGAACTGGAAAGGCTCC -3'

Sequencing Primer
(F):5'- CGTCTTCTTAGAAATAACAGGCTTAC -3'
(R):5'- GGCTCCAGCAATCACCG -3'
Posted On 2017-02-15