Mutagenetix > Incidental Mutation

Incidental Mutation 'R8998:Fap'

684800

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 #

R8998 (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 62537024 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 338 (H338R)

Ref Sequence

ENSEMBL: ENSMUSP00000099793 (fasta)

Gene Model

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

AlphaFold

P97321

Predicted Effect

probably damaging
Transcript: ENSMUST00000000402
AA Change: H305R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000000402
Gene: ENSMUSG00000000392
AA Change: H305R

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: H338R

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099793
Gene: ENSMUSG00000000392
AA Change: H338R

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: ENSMUST00000174234
AA Change: H313R

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000133792
Gene: ENSMUSG00000000392
AA Change: H313R

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: H333R

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000134386
Gene: ENSMUSG00000000392
AA Change: H333R

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: 99.9%
10x: 99.4%
20x: 98.0%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aipl1	T	C	11: 72,030,257	E245G	possibly damaging	Het
Armc4	C	A	18: 7,211,574	V767L	possibly damaging	Het
Cd6	A	T	19: 10,799,278	C128S	probably damaging	Het
Cep41	T	C	6: 30,666,166	D98G	probably benign	Het
Cfap52	T	C	11: 67,927,311	K525E	probably damaging	Het
Ddx10	T	C	9: 53,229,234	E289G	possibly damaging	Het
Dnah1	T	C	14: 31,296,278	T1428A	probably benign	Het
Dsg3	T	C	18: 20,533,627	L631P	probably damaging	Het
Dusp19	T	A	2: 80,630,927	C187S	probably benign	Het
Gabrg1	T	A	5: 70,816,035	I59F	probably benign	Het
Glb1l3	A	T	9: 26,853,618		probably null	Het
Gm11639	A	T	11: 104,749,651	M1072L	probably benign	Het
Gm11756	G	C	4: 73,919,183	N99K	probably damaging	Het
Igkv8-26	C	A	6: 70,193,530	A35E	probably benign	Het
Ikzf1	A	G	11: 11,685,013		probably benign	Het
Krt18	A	C	15: 102,031,439	E357D	probably damaging	Het
Lbr	C	T	1: 181,818,947	G470E	probably damaging	Het
Map2	A	T	1: 66,413,314	K454N	possibly damaging	Het
Map2k3	T	C	11: 60,949,991	V282A		Het
Men1	G	A	19: 6,339,930	V538I	probably benign	Het
Mfn1	T	A	3: 32,569,534	M621K	possibly damaging	Het
Mpdz	C	A	4: 81,284,645	G1838*	probably null	Het
Mypn	A	T	10: 63,162,271	L420*	probably null	Het
Nkx6-1	T	C	5: 101,664,216	M7V	unknown	Het
Notum	G	A	11: 120,654,381	H451Y	probably benign	Het
Olfr1367	A	G	13: 21,347,818	K297E	probably damaging	Het
Olfr266	A	T	3: 106,821,683	I292N	probably damaging	Het
Olfr788	A	G	10: 129,473,517	N275S	probably benign	Het
Pabpc4l	A	C	3: 46,446,348	I287S	probably benign	Het
Pcdha2	C	T	18: 36,940,375	T353M	possibly damaging	Het
Plekha1	T	C	7: 130,908,469	I315T	unknown	Het
Ppp2r2b	C	T	18: 42,737,928	A106T	probably benign	Het
Prkch	T	C	12: 73,696,199	V209A	probably damaging	Het
Ptprc	A	G	1: 138,101,192	C284R	probably damaging	Het
Ptprf	A	G	4: 118,226,474	V804A	probably benign	Het
Rbp3	C	T	14: 33,962,403	R1130*	probably null	Het
Serpina6	C	G	12: 103,651,729	R275P	probably damaging	Het
Six3	T	A	17: 85,623,736	H273Q	probably benign	Het
Stk35	C	A	2: 129,810,589	P337T	probably damaging	Het
Supt5	A	G	7: 28,338,423	S2P	unknown	Het
Tnik	A	G	3: 28,665,771	Y1264C	probably damaging	Het
Trim45	A	G	3: 100,931,644	T621A	unknown	Het
Tyrp1	T	C	4: 80,844,857	L327P	probably damaging	Het
Vmn2r69	A	C	7: 85,411,099	S426A	probably benign	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
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
R9686:Fap	UTSW	2	62573513	missense	possibly damaging	0.86
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'- CGAAAGATTCCAGGCACAATTAATC -3'
(R):5'- TTCTAAGACCAGCCACATGGAAG -3'

Sequencing Primer
(F):5'- TTCCAGGCACAATTAATCACAAATC -3'
(R):5'- GTCTGTATATACTCAGCATGCTGC -3'

Posted On

2021-10-11