Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03266:Fap'

415082

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fap

Ensembl Gene

ENSMUSG00000000392

Gene Name

fibroblast activation protein

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03266

Quality Score

Status

Chromosome

Chromosomal Location

62331280-62404365 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 62367366 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 334 (V334I)

Ref Sequence

ENSEMBL: ENSMUSP00000134386 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000402] [ENSMUST00000102732] [ENSMUST00000174234] [ENSMUST00000174448]

AlphaFold

P97321

Predicted Effect

probably benign
Transcript: ENSMUST00000000402
AA Change: V306I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000000402
Gene: ENSMUSG00000000392
AA Change: V306I

Domain	Start	End	E-Value	Type
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: V339I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099793
Gene: ENSMUSG00000000392
AA Change: V339I

Domain	Start	End	E-Value	Type
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: ENSMUST00000174234
AA Change: V314I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000133792
Gene: ENSMUSG00000000392
AA Change: V314I

Domain	Start	End	E-Value	Type
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: V334I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134386
Gene: ENSMUSG00000000392
AA Change: V334I

Domain	Start	End	E-Value	Type
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

Validation Efficiency

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	T	6: 88,815,916 (GRCm39)	V185E	probably damaging	Het
Acly	T	C	11: 100,374,578 (GRCm39)	E815G	probably damaging	Het
Actr10	T	G	12: 71,003,440 (GRCm39)	S261A	probably benign	Het
Als2cl	T	C	9: 110,719,924 (GRCm39)	V504A	possibly damaging	Het
Btla	T	C	16: 45,059,638 (GRCm39)	I114T	probably damaging	Het
Cacna2d3	T	A	14: 29,022,705 (GRCm39)	I348L	probably benign	Het
Chst15	T	A	7: 131,871,805 (GRCm39)	I159F	probably damaging	Het
Creld1	T	A	6: 113,466,558 (GRCm39)	H208Q	probably benign	Het
Fat2	C	T	11: 55,174,855 (GRCm39)	V1953M	possibly damaging	Het
Fgfr3	G	A	5: 33,891,709 (GRCm39)	A595T	probably damaging	Het
Gm8122	T	A	14: 43,090,116 (GRCm39)	M125L	unknown	Het
Itprid2	G	A	2: 79,472,534 (GRCm39)		probably null	Het
Klk1b1	T	G	7: 43,619,900 (GRCm39)	L153R	probably benign	Het
Lrig3	T	A	10: 125,849,151 (GRCm39)	M957K	probably benign	Het
Mc3r	C	T	2: 172,091,189 (GRCm39)	A137V	probably benign	Het
Met	T	A	6: 17,540,537 (GRCm39)	L821Q	possibly damaging	Het
Mrps17	T	C	5: 129,793,806 (GRCm39)		probably benign	Het
Myh2	A	G	11: 67,067,150 (GRCm39)	T202A	probably benign	Het
Nae1	T	C	8: 105,239,828 (GRCm39)		probably benign	Het
Pkhd1l1	T	A	15: 44,402,348 (GRCm39)	I2240N	probably damaging	Het
Stat6	T	C	10: 127,493,024 (GRCm39)	L552P	possibly damaging	Het
Trbv3	C	A	6: 41,025,658 (GRCm39)	Q83K	probably benign	Het
Uaca	A	T	9: 60,770,689 (GRCm39)	D344V	probably damaging	Het
Ube2q2l	T	C	6: 136,377,921 (GRCm39)	E303G	probably damaging	Het
Uggt1	A	T	1: 36,189,129 (GRCm39)	D1452E	probably damaging	Het
Vwf	T	C	6: 125,655,040 (GRCm39)		probably benign	Het

Other mutations in Fap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2016-08-02