Incidental Mutation 'R8972:Fap'
ID 683144
Institutional Source Beutler Lab
Gene Symbol Fap
Ensembl Gene ENSMUSG00000000392
Gene Name fibroblast activation protein
Synonyms
MMRRC Submission 068806-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8972 (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 G at 62378927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 158 (V158A)
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: V125A

PolyPhen 2 Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000000402
Gene: ENSMUSG00000000392
AA Change: V125A

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: V158A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000099793
Gene: ENSMUSG00000000392
AA Change: V158A

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: V133A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000133792
Gene: ENSMUSG00000000392
AA Change: V133A

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: V153A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000134386
Gene: ENSMUSG00000000392
AA Change: V153A

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: 99.1%
Validation Efficiency 99% (70/71)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,278,138 (GRCm39) S3106F probably damaging Het
Acss1 G T 2: 150,484,809 (GRCm39) R145S probably damaging Het
Acss3 T C 10: 106,920,783 (GRCm39) Y109C probably damaging Het
Adgre4 G T 17: 56,109,189 (GRCm39) G399C probably damaging Het
Alpk1 A G 3: 127,473,232 (GRCm39) S924P probably damaging Het
Anapc4 T A 5: 53,007,884 (GRCm39) D382E possibly damaging Het
Arfgef2 C T 2: 166,709,253 (GRCm39) A1110V possibly damaging Het
Arhgap20 T C 9: 51,760,311 (GRCm39) F721L probably benign Het
Arhgef39 T C 4: 43,497,185 (GRCm39) S269G probably benign Het
Asap2 C T 12: 21,279,249 (GRCm39) T377M probably damaging Het
Baiap3 G T 17: 25,466,010 (GRCm39) A558E probably benign Het
Birc6 A C 17: 75,009,313 (GRCm39) T4862P probably benign Het
Cc2d2a A G 5: 43,867,884 (GRCm39) T843A probably benign Het
Ccdc187 A T 2: 26,171,079 (GRCm39) D466E probably benign Het
Ccdc88a T G 11: 29,435,888 (GRCm39) N1270K probably benign Het
Cep250 C T 2: 155,812,042 (GRCm39) A446V unknown Het
Cntn1 T G 15: 92,150,278 (GRCm39) Y371D probably benign Het
Cpsf1 T C 15: 76,481,528 (GRCm39) D1141G probably damaging Het
Crebbp C T 16: 3,925,935 (GRCm39) V1193I probably benign Het
Csf2ra A T 19: 61,213,597 (GRCm39) S371T probably null Het
Csf2rb2 T C 15: 78,172,115 (GRCm39) N432D probably benign Het
Cul9 A T 17: 46,854,177 (GRCm39) L175Q probably damaging Het
Dlc1 T A 8: 37,405,394 (GRCm39) R132* probably null Het
Dock5 C A 14: 68,013,749 (GRCm39) L1324F probably damaging Het
Dop1a T C 9: 86,403,300 (GRCm39) V36A possibly damaging Het
G2e3 T A 12: 51,410,277 (GRCm39) S319T possibly damaging Het
Gatd3a T C 10: 78,003,323 (GRCm39) I110V possibly damaging Het
Gphn T C 12: 78,656,013 (GRCm39) probably null Het
Gucy2g A G 19: 55,226,406 (GRCm39) I170T probably benign Het
Hmgxb4 T A 8: 75,748,466 (GRCm39) W438R probably damaging Het
Igkv14-126 G T 6: 67,873,329 (GRCm39) G19V probably damaging Het
Kansl1l C T 1: 66,812,101 (GRCm39) C506Y probably damaging Het
Kif2a T C 13: 107,115,543 (GRCm39) T321A probably damaging Het
Krtap6-5 C T 16: 88,844,607 (GRCm39) R42H unknown Het
Map4 T A 9: 109,864,185 (GRCm39) M470K probably benign Het
Mill1 T C 7: 17,996,982 (GRCm39) V191A probably benign Het
Mki67 C A 7: 135,297,364 (GRCm39) A2557S possibly damaging Het
Mkln1 A T 6: 31,473,681 (GRCm39) H669L probably damaging Het
Mrgprb3 A T 7: 48,293,422 (GRCm39) V43E possibly damaging Het
Mucl2 T A 15: 103,927,860 (GRCm39) probably null Het
Mybbp1a T A 11: 72,337,076 (GRCm39) I604N probably benign Het
Myo18b T C 5: 112,841,164 (GRCm39) T2210A probably benign Het
Nlrp4f T C 13: 65,330,749 (GRCm39) I881M probably benign Het
Obscn C A 11: 58,943,442 (GRCm39) A4236S probably benign Het
Or13a23-ps1 A T 7: 140,119,038 (GRCm39) M203L unknown Het
Or4a67 A C 2: 88,598,630 (GRCm39) F10V possibly damaging Het
Or8d1 A G 9: 38,767,254 (GRCm39) K299E probably damaging Het
Or8d2b G A 9: 38,789,150 (GRCm39) R226H probably benign Het
Phc3 T A 3: 31,015,926 (GRCm39) Q83L possibly damaging Het
Pira2 T C 7: 3,845,070 (GRCm39) Y396C probably damaging Het
Prss3 T A 6: 41,353,872 (GRCm39) I24F probably damaging Het
Psg21 T C 7: 18,381,293 (GRCm39) N417D probably benign Het
Ros1 G T 10: 51,999,333 (GRCm39) R1206S probably benign Het
Smg9 A T 7: 24,120,055 (GRCm39) Q386L probably benign Het
Sncb T A 13: 54,907,772 (GRCm39) probably null Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Sorl1 T A 9: 41,957,848 (GRCm39) I599F probably damaging Het
Sox6 C A 7: 115,076,218 (GRCm39) E807* probably null Het
Ssu2 G A 6: 112,360,898 (GRCm39) A53V probably benign Het
Tas2r123 T C 6: 132,824,333 (GRCm39) C77R probably benign Het
Tcta T C 9: 108,181,333 (GRCm39) R117G unknown Het
Tiam1 G A 16: 89,609,894 (GRCm39) A1038V probably damaging Het
Tram2 A T 1: 21,074,273 (GRCm39) probably benign Het
Tsku C A 7: 98,001,704 (GRCm39) R209L probably damaging Het
Twnk T C 19: 45,000,149 (GRCm39) F622L probably damaging Het
Ube2t C T 1: 134,899,670 (GRCm39) T106I probably damaging Het
Usf1 C T 1: 171,245,352 (GRCm39) R255W probably damaging Het
Usp28 T A 9: 48,949,124 (GRCm39) L906Q probably null Het
Vmn2r31 T A 7: 7,399,654 (GRCm39) Y101F probably benign Het
Vmn2r42 A G 7: 8,187,331 (GRCm39) S814P probably damaging Het
Wnt2b T C 3: 104,858,475 (GRCm39) R265G possibly damaging Het
Zfp62 T G 11: 49,106,892 (GRCm39) S328A possibly damaging Het
Zfp974 T C 7: 27,610,589 (GRCm39) I379V probably benign Het
Zmynd15 T C 11: 70,355,065 (GRCm39) V484A possibly damaging Het
Zzef1 T C 11: 72,791,499 (GRCm39) L2201P 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
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
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'- TTGCGGAATTCTCAAACGGG -3'
(R):5'- AGTGAGGATGTTTCATACTGATGTC -3'

Sequencing Primer
(F):5'- CCCGTTTTTAGCCACTGAAATAG -3'
(R):5'- GAACACCAAGAGTTGTTGT -3'
Posted On 2021-10-11