Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01095:Fap'

50491

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 #

IGL01095

Quality Score

Status

Chromosome

Chromosomal Location

62331280-62404365 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 62354545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 448 (T448I)

Ref Sequence

ENSEMBL: ENSMUSP00000000402 (fasta)

Gene Model

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

AlphaFold

P97321

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000402
AA Change: T448I

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000000402
Gene: ENSMUSG00000000392
AA Change: T448I

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: T481I

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000099793
Gene: ENSMUSG00000000392
AA Change: T481I

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: ENSMUST00000152085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172676

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174234
AA Change: T456I

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000133792
Gene: ENSMUSG00000000392
AA Change: T456I

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: T476I

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000134386
Gene: ENSMUSG00000000392
AA Change: T476I

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	T	A	8: 44,079,133 (GRCm39)	I364L	probably benign	Het
Adgra1	A	G	7: 139,425,570 (GRCm39)	T28A	possibly damaging	Het
Aldh8a1	A	G	10: 21,265,180 (GRCm39)	E269G	probably benign	Het
Alkbh7	A	G	17: 57,304,470 (GRCm39)		probably null	Het
Ap1g2	T	C	14: 55,342,571 (GRCm39)	T129A	probably benign	Het
Ap1s1	A	G	5: 137,070,663 (GRCm39)	I117T	probably damaging	Het
Brca1	G	A	11: 101,415,195 (GRCm39)	P119S	possibly damaging	Het
Chid1	A	G	7: 141,110,142 (GRCm39)	V62A	probably damaging	Het
Cpa1	A	T	6: 30,642,968 (GRCm39)	I299F	probably benign	Het
Cuzd1	A	G	7: 130,917,865 (GRCm39)	V245A	probably damaging	Het
Ddx39b	T	C	17: 35,465,937 (GRCm39)	S71P	probably benign	Het
Ddx42	A	G	11: 106,138,325 (GRCm39)	Y708C	probably damaging	Het
Dnah3	C	A	7: 119,550,820 (GRCm39)	L3166F	probably benign	Het
Erap1	A	G	13: 74,816,213 (GRCm39)	E114G	probably benign	Het
Fhl2	A	T	1: 43,170,841 (GRCm39)	Y158N	probably benign	Het
Fscb	A	G	12: 64,520,155 (GRCm39)	V437A	possibly damaging	Het
Il18	A	T	9: 50,490,629 (GRCm39)	D88V	probably damaging	Het
Il5ra	A	T	6: 106,719,605 (GRCm39)		probably benign	Het
Jakmip3	A	T	7: 138,622,546 (GRCm39)	Q302L	probably damaging	Het
Lrp2	A	T	2: 69,322,776 (GRCm39)	Y1857*	probably null	Het
Meis2	T	C	2: 115,694,905 (GRCm39)	T406A	probably benign	Het
Mre11a	T	A	9: 14,721,120 (GRCm39)	S346R	probably benign	Het
Myh15	A	T	16: 48,952,378 (GRCm39)	K816M	probably damaging	Het
Mysm1	C	T	4: 94,856,106 (GRCm39)		probably null	Het
Nyap1	C	A	5: 137,736,346 (GRCm39)	R47L	probably damaging	Het
Oas3	A	G	5: 120,910,954 (GRCm39)	Y209H	probably damaging	Het
Or2v2	T	G	11: 49,003,680 (GRCm39)	Y291S	probably damaging	Het
Or4g16	A	G	2: 111,136,966 (GRCm39)	R139G	probably benign	Het
Or6c209	A	G	10: 129,483,498 (GRCm39)	D167G	probably benign	Het
Or8b42	A	G	9: 38,341,811 (GRCm39)	I78V	probably benign	Het
Or8d6	T	C	9: 39,853,976 (GRCm39)	V140A	probably benign	Het
Pde4b	T	C	4: 102,363,241 (GRCm39)		probably null	Het
Psd3	G	A	8: 68,361,165 (GRCm39)	T99M	probably damaging	Het
R3hcc1	T	C	14: 69,937,477 (GRCm39)	E390G	probably damaging	Het
Rabgap1l	A	C	1: 160,566,539 (GRCm39)	C58W	probably benign	Het
Rasd1	A	G	11: 59,855,117 (GRCm39)	I121T	probably damaging	Het
Spta1	A	G	1: 174,041,051 (GRCm39)	N1284D	probably benign	Het
Tpr	T	C	1: 150,285,891 (GRCm39)	V525A	possibly damaging	Het

Other mutations in Fap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-06-21