Incidental Mutation 'R8924:Fap'
ID 679432
Institutional Source Beutler Lab
Gene Symbol Fap
Ensembl Gene ENSMUSG00000000392
Gene Name fibroblast activation protein
Synonyms
MMRRC Submission 068769-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8924 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 62331280-62404365 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62378165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 181 (F181I)
Ref Sequence ENSEMBL: ENSMUSP00000099793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000402] [ENSMUST00000102732] [ENSMUST00000173745] [ENSMUST00000174234] [ENSMUST00000174448]
AlphaFold P97321
Predicted Effect probably benign
Transcript: ENSMUST00000000402
AA Change: F148I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000000402
Gene: ENSMUSG00000000392
AA Change: F148I

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: F181I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099793
Gene: ENSMUSG00000000392
AA Change: F181I

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 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: F156I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133792
Gene: ENSMUSG00000000392
AA Change: F156I

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: F176I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134386
Gene: ENSMUSG00000000392
AA Change: F176I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (88/90)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A G 11: 109,838,003 (GRCm39) V1145A probably benign Het
Ank1 T C 8: 23,589,011 (GRCm39) M562T probably benign Het
Atn1 A T 6: 124,722,211 (GRCm39) S881T probably benign Het
B3galt1 C T 2: 67,949,059 (GRCm39) T258I probably benign Het
Bahcc1 C T 11: 120,167,591 (GRCm39) L1331F probably benign Het
Capn12 G A 7: 28,582,628 (GRCm39) V168M probably damaging Het
Card14 T C 11: 119,216,930 (GRCm39) V338A possibly damaging Het
Cd27 T C 6: 125,213,432 (GRCm39) probably benign Het
Cd37 A G 7: 44,888,109 (GRCm39) L37P probably damaging Het
Cd96 A G 16: 45,919,385 (GRCm39) L212P probably damaging Het
Celsr1 T C 15: 85,916,671 (GRCm39) E434G possibly damaging Het
Cep152 A G 2: 125,444,778 (GRCm39) M456T possibly damaging Het
Ces3b G A 8: 105,811,619 (GRCm39) R45H probably benign Het
Cfap54 T G 10: 92,837,685 (GRCm39) T1072P probably damaging Het
Chodl A T 16: 78,738,659 (GRCm39) M172L possibly damaging Het
Cilp2 A G 8: 70,339,108 (GRCm39) S47P probably damaging Het
Clasrp T C 7: 19,318,232 (GRCm39) I596V unknown Het
Clcn2 C T 16: 20,530,930 (GRCm39) V267I probably damaging Het
Cntln T A 4: 84,806,936 (GRCm39) D139E probably damaging Het
Cyp2j12 A C 4: 95,994,685 (GRCm39) N379K probably damaging Het
Defb21 T C 2: 152,416,704 (GRCm39) V60A possibly damaging Het
Dnajc16 G T 4: 141,494,018 (GRCm39) S543* probably null Het
Efcab12 G T 6: 115,800,664 (GRCm39) H120N probably benign Het
Efcab3 AACTCTA AA 11: 104,806,253 (GRCm39) probably null Het
Efl1 G A 7: 82,412,161 (GRCm39) G850D probably benign Het
Efna1 T C 3: 89,183,635 (GRCm39) M64V probably benign Het
Eif2ak3 T C 6: 70,870,003 (GRCm39) W897R probably damaging Het
Eif2ak4 T A 2: 118,258,513 (GRCm39) F621Y probably damaging Het
Erbin C A 13: 103,975,966 (GRCm39) E643* probably null Het
Esr1 G A 10: 4,807,176 (GRCm39) W364* probably null Het
Fam171a2 T C 11: 102,330,861 (GRCm39) E206G possibly damaging Het
Fam90a1a T C 8: 22,451,429 (GRCm39) F97L probably benign Het
Fem1b T C 9: 62,704,916 (GRCm39) N115D probably damaging Het
Gal3st2b G T 1: 93,868,653 (GRCm39) A295S probably benign Het
Galnt10 G A 11: 57,674,681 (GRCm39) probably benign Het
Gcfc2 T C 6: 81,909,879 (GRCm39) V224A probably damaging Het
Gh T C 11: 106,191,634 (GRCm39) E136G probably damaging Het
Gjd3 C T 11: 98,873,325 (GRCm39) C173Y probably damaging Het
Gm12695 T A 4: 96,651,046 (GRCm39) M136L probably benign Het
Gnas A G 2: 174,141,277 (GRCm39) E482G unknown Het
Gpa33 T C 1: 165,980,351 (GRCm39) L138P probably damaging Het
Hlf T C 11: 90,236,714 (GRCm39) D181G probably damaging Het
Irgm1 A G 11: 48,756,698 (GRCm39) L387S probably benign Het
Kctd1 T C 18: 15,102,745 (GRCm39) E812G possibly damaging Het
Klra2 T C 6: 131,205,214 (GRCm39) E209G probably benign Het
Klra3 C T 6: 130,312,732 (GRCm39) V11M probably benign Het
Klrh1 G T 6: 129,745,084 (GRCm39) H171N probably benign Het
Kmt2c T C 5: 25,503,885 (GRCm39) S3808G probably benign Het
Krtap24-1 A C 16: 88,408,888 (GRCm39) S79R probably benign Het
Limch1 T A 5: 67,190,475 (GRCm39) H759Q probably benign Het
Map3k4 A G 17: 12,490,433 (GRCm39) Y333H probably benign Het
Mmel1 A G 4: 154,974,091 (GRCm39) Y377C probably damaging Het
Ms4a14 A T 19: 11,281,113 (GRCm39) Y482N possibly damaging Het
Myo9b A G 8: 71,801,675 (GRCm39) S1277G probably benign Het
Nab1 T C 1: 52,529,667 (GRCm39) T77A possibly damaging Het
Obsl1 T C 1: 75,482,841 (GRCm39) S10G probably benign Het
Odc1 A G 12: 17,598,329 (GRCm39) T157A possibly damaging Het
Or2a5 T G 6: 42,873,964 (GRCm39) L193R probably damaging Het
Or8b52 T C 9: 38,576,780 (GRCm39) D120G probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Plpp1 T A 13: 112,943,057 (GRCm39) probably benign Het
Prdm13 G A 4: 21,679,125 (GRCm39) A455V possibly damaging Het
Ptpn13 A T 5: 103,739,101 (GRCm39) Y2289F probably damaging Het
Ptpn18 G T 1: 34,498,966 (GRCm39) R21L probably benign Het
Ptprd A G 4: 75,916,736 (GRCm39) probably null Het
Rcn3 G T 7: 44,733,095 (GRCm39) D258E probably damaging Het
Ro60 C T 1: 143,641,170 (GRCm39) probably null Het
Rsf1 GCG GCGACGGCGCCG 7: 97,229,114 (GRCm39) probably benign Het
Sacs T A 14: 61,429,895 (GRCm39) H651Q probably benign Het
Sacs T C 14: 61,448,702 (GRCm39) S3583P probably damaging Het
Scel A G 14: 103,829,807 (GRCm39) N463S possibly damaging Het
Serpinb2 A T 1: 107,443,284 (GRCm39) I28F possibly damaging Het
Sin3b A G 8: 73,473,131 (GRCm39) K484E probably benign Het
Snrnp48 T A 13: 38,400,397 (GRCm39) V168D probably damaging Het
Snx18 T G 13: 113,754,931 (GRCm39) M1L probably benign Het
Spata31h1 T C 10: 82,131,295 (GRCm39) N572D probably benign Het
Srcap T A 7: 127,158,204 (GRCm39) N2693K unknown Het
Stim1 A G 7: 102,078,014 (GRCm39) D172G Het
Stip1 A T 19: 7,002,687 (GRCm39) L414H probably damaging Het
Sun1 A G 5: 139,209,390 (GRCm39) H40R probably damaging Het
Sva T A 6: 42,019,182 (GRCm39) D117E possibly damaging Het
Syne2 A G 12: 75,943,444 (GRCm39) D321G probably damaging Het
Trim45 A G 3: 100,835,394 (GRCm39) D459G probably damaging Het
Ttc6 G A 12: 57,697,790 (GRCm39) W43* probably null Het
Ugt2b35 A G 5: 87,152,780 (GRCm39) T317A possibly damaging Het
Usp32 C T 11: 84,916,370 (GRCm39) R858Q probably damaging Het
Vmn2r53 G T 7: 12,334,752 (GRCm39) Q303K probably benign Het
Yeats2 T C 16: 19,969,312 (GRCm39) probably null Het
Zfp804a A G 2: 82,088,747 (GRCm39) N859D probably benign Het
Zscan10 A T 17: 23,824,580 (GRCm39) Q12L possibly 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
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
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'- AGACTAGCCTCCTTCTATCCATAAC -3'
(R):5'- CTTTTGCATCTGAATTGCCAGC -3'

Sequencing Primer
(F):5'- TATTTTCAGAAGGACAACCAGCTC -3'
(R):5'- TGCCAGCCCTTTTAAAGACATAGG -3'
Posted On 2021-08-02