Mutagenetix > Incidental Mutation

Incidental Mutation 'R3546:Fap'

268191

Institutional Source

Beutler Lab

Gene Symbol

Fap

Ensembl Gene

ENSMUSG00000000392

Gene Name

fibroblast activation protein

Synonyms

MMRRC Submission

040665-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3546 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62331280-62404365 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 62349355 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 478 (L478R)

Ref Sequence

ENSEMBL: ENSMUSP00000000402 (fasta)

Gene Model

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

AlphaFold

P97321

Predicted Effect

probably damaging
Transcript: ENSMUST00000000402
AA Change: L478R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000000402
Gene: ENSMUSG00000000392
AA Change: L478R

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 damaging
Transcript: ENSMUST00000102732
AA Change: L511R

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099793
Gene: ENSMUSG00000000392
AA Change: L511R

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

probably damaging
Transcript: ENSMUST00000174234
AA Change: L486R

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133792
Gene: ENSMUSG00000000392
AA Change: L486R

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 damaging
Transcript: ENSMUST00000174448
AA Change: L506R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134386
Gene: ENSMUSG00000000392
AA Change: L506R

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

Meta Mutation Damage Score

0.5404

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

100% (31/31)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	G	1: 130,668,926 (GRCm39)		probably benign	Het
Bves	A	G	10: 45,230,907 (GRCm39)	R293G	probably damaging	Het
Ceacam1	T	C	7: 25,171,339 (GRCm39)	N375S	probably benign	Het
Celf3	T	G	3: 94,395,845 (GRCm39)	C304G	probably damaging	Het
Clcc1	T	A	3: 108,575,429 (GRCm39)	C169S	probably benign	Het
Cyth1	A	G	11: 118,083,262 (GRCm39)	V46A	probably damaging	Het
Ddx23	G	A	15: 98,548,613 (GRCm39)	T365M	probably damaging	Het
Etaa1	A	G	11: 17,903,823 (GRCm39)		probably benign	Het
Golga7b	T	C	19: 42,255,510 (GRCm39)	M129T	possibly damaging	Het
Hdac7	G	T	15: 97,705,890 (GRCm39)	Q361K	probably damaging	Het
Itk	A	G	11: 46,246,675 (GRCm39)	L181P	probably benign	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Khdc4	A	G	3: 88,600,443 (GRCm39)		probably benign	Het
Lrp1b	A	T	2: 40,490,300 (GRCm39)	L287H	probably damaging	Het
Mei1	A	G	15: 81,982,243 (GRCm39)	Y677C	probably damaging	Het
Mslnl	T	C	17: 25,963,943 (GRCm39)	V424A	probably damaging	Het
Nbeal1	T	C	1: 60,317,939 (GRCm39)	F1959L	probably damaging	Het
Nlrp6	T	G	7: 140,506,682 (GRCm39)	V849G	probably benign	Het
Or6b13	A	G	7: 139,782,014 (GRCm39)	I223T	probably damaging	Het
Pdilt	C	A	7: 119,099,711 (GRCm39)	E186*	probably null	Het
Ppp1r27	T	A	11: 120,441,511 (GRCm39)	I90F	probably damaging	Het
Reln	A	G	5: 22,432,598 (GRCm39)	V134A	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Slc16a7	T	A	10: 125,130,569 (GRCm39)	K39*	probably null	Het
Sult6b1	G	A	17: 79,214,336 (GRCm39)	T29I	probably benign	Het
Tbc1d1	G	A	5: 64,443,350 (GRCm39)	R523Q	probably damaging	Het
Ttn	T	A	2: 76,575,450 (GRCm39)	I25148F	probably damaging	Het
Ush1g	T	A	11: 115,209,723 (GRCm39)	H157L	probably damaging	Het
Utp20	T	C	10: 88,618,551 (GRCm39)	K1150E	probably damaging	Het
Vmn1r7	A	G	6: 57,001,834 (GRCm39)	I142T	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGTCAGTGTAGAGAGCGAGC -3'
(R):5'- CTTAGTCACATCAGGGCCAC -3'

Sequencing Primer
(F):5'- CTATGGAAAAGTAGATGGTCAACTG -3'
(R):5'- CCCATACAAGCCAAAGGAATTTCATG -3'

Posted On

2015-02-19