Incidental Mutation 'R4793:Fap'
ID 368735
Institutional Source Beutler Lab
Gene Symbol Fap
Ensembl Gene ENSMUSG00000000392
Gene Name fibroblast activation protein
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4793 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 62331280-62404365 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 62374713 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 229 (V229F)
Ref Sequence ENSEMBL: ENSMUSP00000000402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000402] [ENSMUST00000102732] [ENSMUST00000173745] [ENSMUST00000174234] [ENSMUST00000174448]
AlphaFold P97321
Predicted Effect probably damaging
Transcript: ENSMUST00000000402
AA Change: V229F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000402
Gene: ENSMUSG00000000392
AA Change: V229F

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 damaging
Transcript: ENSMUST00000102732
AA Change: V262F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099793
Gene: ENSMUSG00000000392
AA Change: V262F

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 noncoding transcript
Transcript: ENSMUST00000172676
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 damaging
Transcript: ENSMUST00000174234
AA Change: V237F

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000133792
Gene: ENSMUSG00000000392
AA Change: V237F

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 damaging
Transcript: ENSMUST00000174448
AA Change: V257F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134386
Gene: ENSMUSG00000000392
AA Change: V257F

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 0.6603 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 100% (91/91)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T A 11: 110,082,544 (GRCm39) E1143V probably benign Het
Abi2 T A 1: 60,448,963 (GRCm39) M1K probably null Het
Acp2 T C 2: 91,037,134 (GRCm39) F205L probably benign Het
Adam17 T C 12: 21,397,396 (GRCm39) N219D probably benign Het
Aldh2 T C 5: 121,707,042 (GRCm39) S168G probably damaging Het
Arhgap15 A T 2: 44,032,353 (GRCm39) E312D probably damaging Het
Calm5 T C 13: 3,904,401 (GRCm39) S32P probably benign Het
Capn12 G A 7: 28,592,094 (GRCm39) D671N probably benign Het
Ccdc73 A G 2: 104,848,127 (GRCm39) probably null Het
Cdc20 T A 4: 118,294,261 (GRCm39) I20F probably benign Het
Cdh23 A T 10: 60,167,129 (GRCm39) I1841N probably damaging Het
Cftr T C 6: 18,226,087 (GRCm39) V345A probably damaging Het
Col15a1 T C 4: 47,262,997 (GRCm39) S550P possibly damaging Het
Col4a4 A G 1: 82,516,820 (GRCm39) Y133H unknown Het
Csmd1 A G 8: 16,138,277 (GRCm39) S1592P probably damaging Het
Cts6 T A 13: 61,349,626 (GRCm39) M56L probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dock5 A G 14: 68,037,803 (GRCm39) S947P probably benign Het
Dpysl2 G T 14: 67,052,498 (GRCm39) A339D possibly damaging Het
Ebf2 A G 14: 67,647,531 (GRCm39) D360G probably damaging Het
Ensa T C 3: 95,532,489 (GRCm39) probably null Het
Fbn1 C A 2: 125,163,155 (GRCm39) G2116* probably null Het
Frmd4b A T 6: 97,272,822 (GRCm39) S857T probably damaging Het
Fsip2 T A 2: 82,818,044 (GRCm39) Y4592* probably null Het
Fubp1 T A 3: 151,928,966 (GRCm39) Y135N possibly damaging Het
Gdap2 T C 3: 100,078,234 (GRCm39) L66P probably damaging Het
Gm10257 T C 13: 101,083,305 (GRCm39) noncoding transcript Het
Gm1758 A T 16: 14,325,036 (GRCm39) noncoding transcript Het
Gna13 T C 11: 109,254,455 (GRCm39) probably benign Het
H2bc13 T C 13: 21,900,088 (GRCm39) S76G probably benign Het
Heatr1 T C 13: 12,446,718 (GRCm39) I1689T probably benign Het
Hephl1 A G 9: 15,009,286 (GRCm39) I102T probably benign Het
Hltf T G 3: 20,118,114 (GRCm39) Y121D possibly damaging Het
Hspg2 T C 4: 137,256,784 (GRCm39) V1509A possibly damaging Het
Ifitm5 G T 7: 140,530,077 (GRCm39) R16S probably benign Het
Il1rap A C 16: 26,513,984 (GRCm39) D239A probably benign Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kcna6 T C 6: 126,715,519 (GRCm39) I457V probably damaging Het
Kctd17 T A 15: 78,317,224 (GRCm39) L47Q probably damaging Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrrc63 A G 14: 75,363,601 (GRCm39) S177P possibly damaging Het
Lrriq1 T C 10: 103,006,327 (GRCm39) D1266G probably benign Het
Map3k2 G T 18: 32,361,203 (GRCm39) M554I probably damaging Het
Mst1r T A 9: 107,797,124 (GRCm39) V1331E probably damaging Het
Musk T C 4: 58,373,400 (GRCm39) I775T probably damaging Het
Mybl2 A G 2: 162,916,683 (GRCm39) K7E probably damaging Het
Nf1 T C 11: 79,338,398 (GRCm39) S1137P probably damaging Het
Nlrp5 A G 7: 23,117,055 (GRCm39) I260V probably damaging Het
Or13c7 A T 4: 43,854,323 (GRCm39) N5Y probably benign Het
Or9g4 A C 2: 85,504,842 (GRCm39) Y218D probably damaging Het
Or9s23 G T 1: 92,501,207 (GRCm39) A105S possibly damaging Het
Pabpc1l C T 2: 163,869,542 (GRCm39) A114V possibly damaging Het
Plac8l1 T A 18: 42,311,973 (GRCm39) I149F possibly damaging Het
Pou6f1 T A 15: 100,476,293 (GRCm39) N531I probably damaging Het
Prdm10 A G 9: 31,264,701 (GRCm39) Y712C probably damaging Het
Ptbp3 T C 4: 59,514,297 (GRCm39) T43A possibly damaging Het
Ptpn13 T C 5: 103,730,644 (GRCm39) probably null Het
Rnf135 T C 11: 80,087,775 (GRCm39) probably null Het
Rusf1 A T 7: 127,887,374 (GRCm39) probably benign Het
Serpinb3d A G 1: 107,005,951 (GRCm39) L379P probably damaging Het
Sh2d6 T A 6: 72,494,581 (GRCm39) T124S probably benign Het
Slc26a5 G A 5: 22,042,992 (GRCm39) P153S probably damaging Het
Slc5a7 A G 17: 54,588,822 (GRCm39) F275S possibly damaging Het
Snx14 A G 9: 88,276,495 (GRCm39) S606P probably damaging Het
Sphkap A T 1: 83,255,805 (GRCm39) I648K possibly damaging Het
Spon2 T C 5: 33,371,904 (GRCm39) T301A probably damaging Het
Srpra C T 9: 35,124,447 (GRCm39) T48I probably benign Het
Taar9 G A 10: 23,985,408 (GRCm39) P9S probably benign Het
Tacc1 A T 8: 25,672,405 (GRCm39) S274R possibly damaging Het
Tc2n A G 12: 101,617,376 (GRCm39) S348P possibly damaging Het
Timd2 G T 11: 46,578,008 (GRCm39) T41K probably damaging Het
Tmem132a T A 19: 10,842,857 (GRCm39) E206V probably damaging Het
Tmt1a3 A G 15: 100,232,889 (GRCm39) M27V probably benign Het
Tpi1 A T 6: 124,789,544 (GRCm39) probably benign Het
Traf5 T G 1: 191,729,765 (GRCm39) T429P probably benign Het
Trav4-3 A G 14: 53,836,615 (GRCm39) S27G possibly damaging Het
Tubd1 T C 11: 86,457,895 (GRCm39) M462T probably benign Het
Ube4a T C 9: 44,860,120 (GRCm39) D314G probably damaging Het
Utp25 T A 1: 192,796,116 (GRCm39) Q50L probably null Het
Vmn2r58 G T 7: 41,514,495 (GRCm39) T158K probably damaging Het
Vmn2r68 C A 7: 84,883,648 (GRCm39) M152I probably benign Het
Vmn2r91 A G 17: 18,325,658 (GRCm39) E92G probably damaging Het
Wdr20rt T C 12: 65,273,395 (GRCm39) V113A probably damaging Het
Zfp729a T C 13: 67,768,546 (GRCm39) H561R probably damaging Het
Zfp804a T A 2: 82,066,186 (GRCm39) D52E 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
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
R5898:Fap UTSW 2 62,403,847 (GRCm39) missense probably benign
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'- GCTTTGTCACCATGGTCATC -3'
(R):5'- AGTTCCTGGTCACTATGCAGAAC -3'

Sequencing Primer
(F):5'- CACCATGGTCATCTTTAAACGAGTC -3'
(R):5'- GGTCACTATGCAGAACATCTTCG -3'
Posted On 2016-02-04