Mutagenetix > Incidental Mutation

Incidental Mutation 'R8972:Fap'

683144

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 #

R8972 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62500943-62574075 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62548583 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 158 (V158A)

Ref Sequence

ENSEMBL: ENSMUSP00000099793 (fasta)

Gene Model

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

AlphaFold

P97321

Predicted Effect

probably benign
Transcript: ENSMUST00000000402
AA Change: V125A

PolyPhen 2 Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000000402
Gene: ENSMUSG00000000392
AA Change: V125A

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: V158A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000099793
Gene: ENSMUSG00000000392
AA Change: V158A

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

probably benign
Transcript: ENSMUST00000174234
AA Change: V133A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000133792
Gene: ENSMUSG00000000392
AA Change: V133A

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: V153A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000134386
Gene: ENSMUSG00000000392
AA Change: V153A

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: 99.7%
20x: 99.1%

Validation Efficiency

99% (70/71)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,328,138	S3106F	probably damaging	Het
Acss1	G	T	2: 150,642,889	R145S	probably damaging	Het
Acss3	T	C	10: 107,084,922	Y109C	probably damaging	Het
Adgre4	G	T	17: 55,802,189	G399C	probably damaging	Het
Alpk1	A	G	3: 127,679,583	S924P	probably damaging	Het
Anapc4	T	A	5: 52,850,542	D382E	possibly damaging	Het
Arfgef2	C	T	2: 166,867,333	A1110V	possibly damaging	Het
Arhgap20	T	C	9: 51,849,011	F721L	probably benign	Het
Arhgef39	T	C	4: 43,497,185	S269G	probably benign	Het
Asap2	C	T	12: 21,229,248	T377M	probably damaging	Het
Baiap3	G	T	17: 25,247,036	A558E	probably benign	Het
Birc6	A	C	17: 74,702,318	T4862P	probably benign	Het
Cc2d2a	A	G	5: 43,710,542	T843A	probably benign	Het
Ccdc187	A	T	2: 26,281,067	D466E	probably benign	Het
Ccdc88a	T	G	11: 29,485,888	N1270K	probably benign	Het
Cep250	C	T	2: 155,970,122	A446V	unknown	Het
Cntn1	T	G	15: 92,252,397	Y371D	probably benign	Het
Cpsf1	T	C	15: 76,597,328	D1141G	probably damaging	Het
Crebbp	C	T	16: 4,108,071	V1193I	probably benign	Het
Csf2ra	A	T	19: 61,225,159	S371T	probably null	Het
Csf2rb2	T	C	15: 78,287,915	N432D	probably benign	Het
Cul9	A	T	17: 46,543,251	L175Q	probably damaging	Het
D10Jhu81e	T	C	10: 78,167,489	I110V	possibly damaging	Het
Dlc1	T	A	8: 36,938,240	R132*	probably null	Het
Dock5	C	A	14: 67,776,300	L1324F	probably damaging	Het
Dopey1	T	C	9: 86,521,247	V36A	possibly damaging	Het
G2e3	T	A	12: 51,363,494	S319T	possibly damaging	Het
Gphn	T	C	12: 78,609,239		probably null	Het
Gucy2g	A	G	19: 55,237,974	I170T	probably benign	Het
Hmgxb4	T	A	8: 75,021,838	W438R	probably damaging	Het
Igkv14-126	G	T	6: 67,896,345	G19V	probably damaging	Het
Kansl1l	C	T	1: 66,772,942	C506Y	probably damaging	Het
Kif2a	T	C	13: 106,979,035	T321A	probably damaging	Het
Krtap6-5	C	T	16: 89,047,719	R42H	unknown	Het
Map4	T	A	9: 110,035,117	M470K	probably benign	Het
Mill1	T	C	7: 18,263,057	V191A	probably benign	Het
Mki67	C	A	7: 135,695,635	A2557S	possibly damaging	Het
Mkln1	A	T	6: 31,496,746	H669L	probably damaging	Het
Mrgprb3	A	T	7: 48,643,674	V43E	possibly damaging	Het
Mucl2	T	A	15: 103,897,594		probably null	Het
Mybbp1a	T	A	11: 72,446,250	I604N	probably benign	Het
Myo18b	T	C	5: 112,693,298	T2210A	probably benign	Het
Nlrp4f	T	C	13: 65,182,935	I881M	probably benign	Het
Obscn	C	A	11: 59,052,616	A4236S	probably benign	Het
Olfr1200	A	C	2: 88,768,286	F10V	possibly damaging	Het
Olfr26	A	G	9: 38,855,958	K299E	probably damaging	Het
Olfr537-ps1	A	T	7: 140,539,125	M203L	unknown	Het
Olfr926	G	A	9: 38,877,854	R226H	probably benign	Het
Phc3	T	A	3: 30,961,777	Q83L	possibly damaging	Het
Pira2	T	C	7: 3,842,071	Y396C	probably damaging	Het
Prss3	T	A	6: 41,376,938	I24F	probably damaging	Het
Psg21	T	C	7: 18,647,368	N417D	probably benign	Het
Ros1	G	T	10: 52,123,237	R1206S	probably benign	Het
Smg9	A	T	7: 24,420,630	Q386L	probably benign	Het
Sncb	T	A	13: 54,759,959		probably null	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,334		probably benign	Het
Sorl1	T	A	9: 42,046,552	I599F	probably damaging	Het
Sox6	C	A	7: 115,476,983	E807*	probably null	Het
Ssu2	G	A	6: 112,383,937	A53V	probably benign	Het
Tas2r123	T	C	6: 132,847,370	C77R	probably benign	Het
Tcta	T	C	9: 108,304,134	R117G	unknown	Het
Tiam1	G	A	16: 89,813,006	A1038V	probably damaging	Het
Tram2	A	T	1: 21,004,049		probably benign	Het
Tsku	C	A	7: 98,352,497	R209L	probably damaging	Het
Twnk	T	C	19: 45,011,710	F622L	probably damaging	Het
Ube2t	C	T	1: 134,971,932	T106I	probably damaging	Het
Usf1	C	T	1: 171,417,784	R255W	probably damaging	Het
Usp28	T	A	9: 49,037,824	L906Q	probably null	Het
Vmn2r31	T	A	7: 7,396,655	Y101F	probably benign	Het
Vmn2r42	A	G	7: 8,184,332	S814P	probably damaging	Het
Wnt2b	T	C	3: 104,951,159	R265G	possibly damaging	Het
Zfp62	T	G	11: 49,216,065	S328A	possibly damaging	Het
Zfp974	T	C	7: 27,911,164	I379V	probably benign	Het
Zmynd15	T	C	11: 70,464,239	V484A	possibly damaging	Het
Zzef1	T	C	11: 72,900,673	L2201P	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
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
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'- TTGCGGAATTCTCAAACGGG -3'
(R):5'- AGTGAGGATGTTTCATACTGATGTC -3'

Sequencing Primer
(F):5'- CCCGTTTTTAGCCACTGAAATAG -3'
(R):5'- GAACACCAAGAGTTGTTGT -3'

Posted On

2021-10-11