Mutagenetix > Incidental Mutation

Incidental Mutation 'R9686:Fap'

728827

Institutional Source

Beutler Lab

Gene Symbol

Fap

Ensembl Gene

ENSMUSG00000000392

Gene Name

fibroblast activation protein

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9686 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62500943-62574075 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62573513 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 6 (K6R)

Ref Sequence

ENSEMBL: ENSMUSP00000099793 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000402] [ENSMUST00000102732] [ENSMUST00000173745] [ENSMUST00000174234] [ENSMUST00000174448]

AlphaFold

P97321

Predicted Effect

probably damaging
Transcript: ENSMUST00000000402
AA Change: K6R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000402
Gene: ENSMUSG00000000392
AA Change: K6R

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

possibly damaging
Transcript: ENSMUST00000102732
AA Change: K6R

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099793
Gene: ENSMUSG00000000392
AA Change: K6R

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

probably benign
Transcript: ENSMUST00000173745

SMART Domains

Protein: ENSMUSP00000134305
Gene: ENSMUSG00000000392

Domain	Start	End	E-Value	Type
Pfam:DPPIV_N	12	63	2.9e-13	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174234
AA Change: K6R

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000133792
Gene: ENSMUSG00000000392
AA Change: K6R

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

possibly damaging
Transcript: ENSMUST00000174448
AA Change: K6R

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134386
Gene: ENSMUSG00000000392
AA Change: K6R

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,357,041	F1209L	probably benign	Het
Adamts19	A	G	18: 58,838,021	T226A	probably benign	Het
Akap13	A	G	7: 75,586,336	T220A	probably damaging	Het
Ank2	T	A	3: 126,946,901	E1778V	unknown	Het
Aspn	T	C	13: 49,557,353	I158T	probably damaging	Het
Btbd1	A	G	7: 81,805,850	C258R	probably damaging	Het
Btla	A	G	16: 45,250,509	N278S	probably damaging	Het
Cap2	A	G	13: 46,525,450	E12G	probably damaging	Het
Ccdc171	A	G	4: 83,549,682	Y88C	probably damaging	Het
Ceacam3	C	T	7: 17,158,198	L289F		Het
Cenpj	G	A	14: 56,552,591	A667V	probably benign	Het
Clu	G	T	14: 65,975,005	G136C	probably damaging	Het
Col4a4	A	T	1: 82,497,241	F626I	unknown	Het
Csf2ra	A	G	19: 61,225,191	F360S	probably damaging	Het
Cyp27b1	T	A	10: 127,050,316	S289T	probably benign	Het
Dnah17	G	T	11: 118,088,222	H1781Q	possibly damaging	Het
Epha8	G	T	4: 136,938,586	L420M	probably damaging	Het
Fcer1a	A	G	1: 173,225,413	V72A	possibly damaging	Het
Flnc	T	C	6: 29,456,435	S2211P	possibly damaging	Het
Gm20939	A	T	17: 94,877,460	H512L	probably damaging	Het
Gm21964	T	A	8: 110,109,931	W180R	probably damaging	Het
Gng12	T	C	6: 67,017,545	S59P	probably damaging	Het
Grin1	A	C	2: 25,313,510	I163S	probably benign	Het
Haus5	A	G	7: 30,661,973	I74T	probably benign	Het
Hmcn1	G	A	1: 150,737,605	P1357L	probably damaging	Het
Kcnv1	A	G	15: 45,109,104	I461T	probably benign	Het
Kmo	A	G	1: 175,632,220	M1V	probably null	Het
Krt80	G	A	15: 101,364,400	R107C	probably damaging	Het
Macf1	A	G	4: 123,483,698	V1481A	possibly damaging	Het
Masp1	A	G	16: 23,496,137	S125P	probably damaging	Het
Mroh2b	C	T	15: 4,945,123	P1195L	probably benign	Het
Neurl3	A	T	1: 36,266,458	W223R	probably benign	Het
Olfr1034	A	T	2: 86,046,991	I170F	probably benign	Het
Olfr172	T	C	16: 58,760,763	K138E	possibly damaging	Het
Olfr63	A	G	17: 33,268,879	T52A	probably benign	Het
Olfr996	T	A	2: 85,579,996	Y252*	probably null	Het
Pcdhb4	A	C	18: 37,309,890	Y751S	probably damaging	Het
Pcnx2	C	A	8: 125,866,027	A733S	probably benign	Het
Pde4a	A	G	9: 21,206,266	E608G	probably benign	Het
Pfdn2	G	A	1: 171,357,809	E98K	unknown	Het
Pikfyve	T	A	1: 65,252,456	V1278D	probably damaging	Het
Ptprb	A	T	10: 116,368,789	T1843S	probably damaging	Het
Rab12	G	T	17: 66,519,518	A66E	probably benign	Het
Ralyl	T	C	3: 13,776,827		probably benign	Het
Rbm47	A	T	5: 66,022,626		probably null	Het
Rev3l	T	A	10: 39,867,388	D3038E	possibly damaging	Het
Rhobtb2	A	G	14: 69,796,556	F407L	probably benign	Het
S100pbp	A	T	4: 129,155,478	D332E	probably damaging	Het
Slc9c1	T	C	16: 45,580,214	V729A	possibly damaging	Het
Slfn5	A	T	11: 82,957,175	E295D	probably benign	Het
Smarcc2	A	G	10: 128,480,906	S518G	probably damaging	Het
Sorbs1	T	C	19: 40,393,510	D29G	probably damaging	Het
Spata13	G	A	14: 60,751,659	E925K	probably damaging	Het
Spen	A	G	4: 141,472,635	S2894P	probably benign	Het
Taar7a	G	A	10: 23,993,411	T24I	probably benign	Het
Taf4b	C	A	18: 14,799,158	T189N	possibly damaging	Het
Ube2o	A	T	11: 116,543,953	C561S	probably benign	Het
Usp34	T	A	11: 23,474,351	I3213N		Het
Vmn1r103	A	G	7: 20,510,428	V36A	possibly damaging	Het
Vmn2r65	G	A	7: 84,940,876	L611F	probably benign	Het
Zfp51	C	T	17: 21,463,609	S162F	probably damaging	Het
Zfp518b	G	A	5: 38,674,114	H183Y	probably damaging	Het
Zfp622	A	G	15: 25,985,055	E169G	probably benign	Het
Zfp703	A	G	8: 26,979,016	D236G	probably damaging	Het
Zfp839	A	T	12: 110,855,498	I249F	probably damaging	Het

Other mutations in Fap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:Fap	APN	2	62524201	missense	possibly damaging	0.82
IGL01420:Fap	APN	2	62504502	splice site	probably benign
IGL01485:Fap	APN	2	62544311	missense	possibly damaging	0.80
IGL01987:Fap	APN	2	62528676	missense	probably damaging	1.00
IGL02198:Fap	APN	2	62554798	missense	probably benign
IGL02355:Fap	APN	2	62573498	missense	probably benign	0.02
IGL02362:Fap	APN	2	62573498	missense	probably benign	0.02
IGL03227:Fap	APN	2	62530763	critical splice acceptor site	probably null
IGL03266:Fap	APN	2	62537022	missense	probably benign
IGL03369:Fap	APN	2	62503355	splice site	probably benign
IGL03406:Fap	APN	2	62542122	splice site	probably benign
mnemosyne	UTSW	2	62528714	missense	probably damaging	1.00
R1467_Fap_571	UTSW	2	62517620	missense	probably benign	0.18
R4812_Fap_496	UTSW	2	62519021	missense	probably damaging	1.00
R5661_fap_070	UTSW	2	62536963	intron	probably benign
ANU74:Fap	UTSW	2	62547769	missense	probably damaging	1.00
R0254:Fap	UTSW	2	62503402	missense	probably damaging	1.00
R0842:Fap	UTSW	2	62537001	missense	probably damaging	1.00
R1467:Fap	UTSW	2	62517620	missense	probably benign	0.18
R1467:Fap	UTSW	2	62517620	missense	probably benign	0.18
R1591:Fap	UTSW	2	62553857	missense	probably damaging	0.99
R1671:Fap	UTSW	2	62553835	missense	possibly damaging	0.46
R1674:Fap	UTSW	2	62519005	missense	probably benign
R1795:Fap	UTSW	2	62548589	missense	probably damaging	1.00
R1869:Fap	UTSW	2	62528727	missense	probably damaging	1.00
R2032:Fap	UTSW	2	62542237	missense	probably benign	0.43
R2136:Fap	UTSW	2	62524207	missense	possibly damaging	0.94
R3546:Fap	UTSW	2	62519011	missense	probably damaging	1.00
R3547:Fap	UTSW	2	62519011	missense	probably damaging	1.00
R3771:Fap	UTSW	2	62533010	missense	probably damaging	1.00
R3801:Fap	UTSW	2	62546650	missense	probably benign	0.04
R3910:Fap	UTSW	2	62556104	missense	probably damaging	1.00
R4306:Fap	UTSW	2	62530707	critical splice donor site	probably null
R4323:Fap	UTSW	2	62503372	missense	probably damaging	0.97
R4517:Fap	UTSW	2	62530715	missense	probably benign	0.01
R4793:Fap	UTSW	2	62544369	missense	probably damaging	1.00
R4812:Fap	UTSW	2	62519021	missense	probably damaging	1.00
R4843:Fap	UTSW	2	62544374	missense	probably damaging	1.00
R5281:Fap	UTSW	2	62532961	critical splice donor site	probably null
R5661:Fap	UTSW	2	62536963	intron	probably benign
R5696:Fap	UTSW	2	62502459	missense	probably damaging	1.00
R5750:Fap	UTSW	2	62528714	missense	probably damaging	1.00
R5898:Fap	UTSW	2	62573503	missense	probably benign
R5907:Fap	UTSW	2	62544356	missense	probably damaging	1.00
R5944:Fap	UTSW	2	62542261	missense	probably damaging	1.00
R5991:Fap	UTSW	2	62518521	missense	probably damaging	1.00
R6110:Fap	UTSW	2	62554770	missense	possibly damaging	0.91
R6270:Fap	UTSW	2	62547788	missense	probably damaging	0.98
R6505:Fap	UTSW	2	62546603	nonsense	probably null
R6631:Fap	UTSW	2	62503381	missense	probably damaging	1.00
R6896:Fap	UTSW	2	62504600	nonsense	probably null
R7138:Fap	UTSW	2	62542178	missense	probably benign	0.10
R7806:Fap	UTSW	2	62503414	missense	probably damaging	1.00
R8000:Fap	UTSW	2	62502798	critical splice donor site	probably null
R8115:Fap	UTSW	2	62519041	missense	probably benign	0.07
R8737:Fap	UTSW	2	62512433	missense	probably benign	0.00
R8899:Fap	UTSW	2	62518473	missense	probably damaging	1.00
R8924:Fap	UTSW	2	62547821	missense	probably benign
R8972:Fap	UTSW	2	62548583	missense	probably benign	0.02
R8998:Fap	UTSW	2	62537024	missense	probably benign	0.12
R8999:Fap	UTSW	2	62537024	missense	probably benign	0.12
R9418:Fap	UTSW	2	62554837	nonsense	probably null
R9521:Fap	UTSW	2	62542156	missense	probably benign
X0017:Fap	UTSW	2	62556180	missense	probably benign	0.04
X0026:Fap	UTSW	2	62512390	missense	probably damaging	1.00
Z1176:Fap	UTSW	2	62528774	missense	possibly damaging	0.87
Z1177:Fap	UTSW	2	62502446	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATAGGCACTTAGGAAATGTTCACC -3'
(R):5'- GAGTATCACTTCCCGGTGTG -3'

Sequencing Primer
(F):5'- ACCCATTTGAGTTCACACGTTGG -3'
(R):5'- ATCACTTCCCGGTGTGTGTTAG -3'

Posted On

2022-10-06