Mutagenetix > Incidental Mutation

Incidental Mutation 'R0254:Fap'

34527

Institutional Source

Beutler Lab

Gene Symbol

Fap

Ensembl Gene

ENSMUSG00000000392

Gene Name

fibroblast activation protein

Synonyms

MMRRC Submission

038485-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0254 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62331280-62404365 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 62333746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 633 (G633D)

Ref Sequence

ENSEMBL: ENSMUSP00000000402 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000402] [ENSMUST00000102732] [ENSMUST00000128139] [ENSMUST00000174234] [ENSMUST00000174448]

AlphaFold

P97321

Predicted Effect

probably damaging
Transcript: ENSMUST00000000402
AA Change: G633D

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

SMART Domains

Protein: ENSMUSP00000000402
Gene: ENSMUSG00000000392
AA Change: G633D

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: G666D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099793
Gene: ENSMUSG00000000392
AA Change: G666D

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 damaging
Transcript: ENSMUST00000128139
AA Change: G8D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152085

Predicted Effect

probably damaging
Transcript: ENSMUST00000174234
AA Change: G641D

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133792
Gene: ENSMUSG00000000392
AA Change: G641D

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: G661D

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134386
Gene: ENSMUSG00000000392
AA Change: G661D

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

0.4867

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

100% (100/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,853,902 (GRCm39)	M252L	probably benign	Het
Abca6	A	G	11: 110,127,615 (GRCm39)	V314A	probably benign	Het
Abcb1b	A	T	5: 8,877,409 (GRCm39)	E656D	probably benign	Het
Abhd4	T	C	14: 54,500,691 (GRCm39)	I160T	probably benign	Het
Aco2	T	C	15: 81,773,557 (GRCm39)	V32A	probably damaging	Het
Actl6b	A	G	5: 137,552,406 (GRCm39)		probably benign	Het
Akap13	T	C	7: 75,386,352 (GRCm39)		probably benign	Het
Alpk3	A	T	7: 80,726,722 (GRCm39)	T136S	probably benign	Het
Ap1g1	G	T	8: 110,529,749 (GRCm39)	M56I	probably benign	Het
Arid2	C	T	15: 96,268,452 (GRCm39)	T855I	probably damaging	Het
Asprv1	T	C	6: 86,606,077 (GRCm39)	F308L	probably damaging	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Atp11b	T	A	3: 35,866,259 (GRCm39)	M378K	possibly damaging	Het
Atp1a3	T	C	7: 24,680,937 (GRCm39)		probably benign	Het
Blk	C	A	14: 63,618,253 (GRCm39)	A218S	probably benign	Het
C4b	T	A	17: 34,953,750 (GRCm39)	T953S	probably benign	Het
Cdadc1	T	C	14: 59,813,356 (GRCm39)		probably benign	Het
Cdca2	C	A	14: 67,914,627 (GRCm39)	L877F	probably damaging	Het
Ceacam10	G	T	7: 24,477,733 (GRCm39)	V83L	probably damaging	Het
Cep290	A	T	10: 100,350,436 (GRCm39)	I677F	probably benign	Het
Clip1	A	T	5: 123,755,395 (GRCm39)		probably benign	Het
Col11a2	G	T	17: 34,283,777 (GRCm39)		probably benign	Het
Coro1c	A	T	5: 113,983,313 (GRCm39)	V405D	probably benign	Het
Crebrf	A	G	17: 26,958,568 (GRCm39)	T13A	probably benign	Het
Cspg4	A	G	9: 56,804,694 (GRCm39)	E1835G	probably damaging	Het
Cubn	A	T	2: 13,480,846 (GRCm39)		probably null	Het
Cubn	T	C	2: 13,429,505 (GRCm39)	N1332S	probably benign	Het
Cubn	T	C	2: 13,445,325 (GRCm39)	T1014A	possibly damaging	Het
Efnb1	T	C	X: 98,180,634 (GRCm39)		probably benign	Het
Elf2	G	T	3: 51,215,611 (GRCm39)	P33Q	probably damaging	Het
Gm10288	T	C	3: 146,544,675 (GRCm39)		noncoding transcript	Het
Got2	T	C	8: 96,596,166 (GRCm39)	N318S	probably benign	Het
Guk1	A	T	11: 59,076,854 (GRCm39)	F76L	probably damaging	Het
H2-K2	A	T	17: 34,215,639 (GRCm39)		probably benign	Het
Helz2	C	A	2: 180,874,552 (GRCm39)	G1981C	probably damaging	Het
Hinfp	G	A	9: 44,209,536 (GRCm39)	H250Y	probably damaging	Het
Hnrnpm	C	T	17: 33,871,242 (GRCm39)		probably null	Het
Hsd11b2	T	A	8: 106,249,699 (GRCm39)	V270E	possibly damaging	Het
Igbp1b	A	T	6: 138,635,201 (GRCm39)	M81K	probably damaging	Het
Kif11	A	G	19: 37,399,957 (GRCm39)	T815A	probably benign	Het
Kit	G	A	5: 75,781,581 (GRCm39)	V337I	probably benign	Het
Klf11	T	C	12: 24,703,582 (GRCm39)	S6P	probably damaging	Het
Klk13	T	C	7: 43,373,245 (GRCm39)	V193A	probably benign	Het
Krt73	T	A	15: 101,708,324 (GRCm39)		probably benign	Het
L1td1	T	A	4: 98,625,419 (GRCm39)	L538*	probably null	Het
Macf1	A	G	4: 123,326,572 (GRCm39)	L2061P	probably damaging	Het
Mcm2	A	G	6: 88,860,998 (GRCm39)	I900T	probably damaging	Het
Med16	A	T	10: 79,736,034 (GRCm39)	N371K	possibly damaging	Het
Mepce	A	C	5: 137,783,698 (GRCm39)	D209E	possibly damaging	Het
Mrc2	C	G	11: 105,238,692 (GRCm39)	P1249R	probably benign	Het
Mx2	A	T	16: 97,357,295 (GRCm39)	I463L	probably benign	Het
Naaa	A	T	5: 92,412,994 (GRCm39)	N73K	probably damaging	Het
Nags	T	A	11: 102,038,771 (GRCm39)	L404Q	probably damaging	Het
Neb	A	G	2: 52,133,402 (GRCm39)	Y3379H	probably damaging	Het
Nhsl1	A	G	10: 18,348,733 (GRCm39)	E120G	probably damaging	Het
Or11j4	T	C	14: 50,630,536 (GRCm39)	S108P	probably damaging	Het
Or4f53	A	C	2: 111,087,466 (GRCm39)	N2T	probably benign	Het
Or51a42	T	C	7: 103,708,728 (GRCm39)	H27R	probably benign	Het
Or51ah3	T	A	7: 103,209,829 (GRCm39)	Y48*	probably null	Het
Or51f5	C	A	7: 102,424,076 (GRCm39)	S115*	probably null	Het
Pcnt	A	G	10: 76,228,414 (GRCm39)	F1584L	probably benign	Het
Pdgfra	G	A	5: 75,328,596 (GRCm39)	V243I	probably damaging	Het
Polr2a	T	C	11: 69,634,497 (GRCm39)	I689V	possibly damaging	Het
Ppfia4	C	A	1: 134,251,962 (GRCm39)		probably benign	Het
Prmt8	C	A	6: 127,688,771 (GRCm39)	V200L	probably damaging	Het
Prpf8	T	A	11: 75,397,188 (GRCm39)	I2007N	possibly damaging	Het
Ptpn6	T	C	6: 124,705,113 (GRCm39)	E230G	probably damaging	Het
R3hcc1l	G	A	19: 42,551,587 (GRCm39)	V195I	probably damaging	Het
Rb1cc1	C	T	1: 6,333,071 (GRCm39)	T1330I	probably damaging	Het
Reep3	G	T	10: 66,857,575 (GRCm39)	T172N	probably benign	Het
Rfwd3	A	G	8: 112,020,655 (GRCm39)	V236A	probably benign	Het
Rgs22	T	C	15: 36,104,698 (GRCm39)	I121V	probably damaging	Het
Robo1	T	A	16: 72,461,058 (GRCm39)	F11I	probably benign	Het
Rsrc2	A	G	5: 123,878,910 (GRCm39)		probably benign	Het
Rubcn	A	G	16: 32,668,316 (GRCm39)	V117A	probably benign	Het
Scamp1	T	G	13: 94,347,088 (GRCm39)	N192T	probably benign	Het
Scn8a	T	A	15: 100,916,245 (GRCm39)	I1218N	probably damaging	Het
Serinc1	A	G	10: 57,399,304 (GRCm39)	S200P	probably damaging	Het
Serpinb9f	T	A	13: 33,518,574 (GRCm39)	F358Y	probably damaging	Het
Slc12a5	T	C	2: 164,839,165 (GRCm39)		probably null	Het
Slc5a4b	T	C	10: 75,906,462 (GRCm39)	M386V	possibly damaging	Het
Smarca5	A	G	8: 81,431,329 (GRCm39)	F963L	probably benign	Het
Smchd1	A	T	17: 71,718,886 (GRCm39)	F828I	probably benign	Het
Smr2l	A	T	5: 88,430,230 (GRCm39)	H42L	possibly damaging	Het
Stab2	G	T	10: 86,733,824 (GRCm39)	Q1333K	probably benign	Het
Svop	T	C	5: 114,176,600 (GRCm39)	S349G	probably benign	Het
Tdrd1	G	A	19: 56,830,998 (GRCm39)	S271N	probably benign	Het
Tec	G	A	5: 72,941,081 (GRCm39)	P159S	probably benign	Het
Tec	T	C	5: 72,920,899 (GRCm39)		probably benign	Het
Tfip11	G	A	5: 112,483,521 (GRCm39)	M645I	probably benign	Het
Thap12	A	T	7: 98,364,488 (GRCm39)	T219S	probably benign	Het
Tmem87a	C	T	2: 120,205,988 (GRCm39)	R329H	probably damaging	Het
Tpsab1	A	G	17: 25,562,719 (GRCm39)	Y227H	probably damaging	Het
Urah	G	A	7: 140,417,602 (GRCm39)	V114I	probably benign	Het
Wnt5a	G	A	14: 28,244,811 (GRCm39)	E353K	probably damaging	Het
Zfp1004	G	A	2: 150,033,784 (GRCm39)	R35K	possibly damaging	Het
Zfp101	A	T	17: 33,599,952 (GRCm39)	H601Q	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
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

Predicted Primers

PCR Primer
(F):5'- AGGCATAAATGATACCCGCTCAAGC -3'
(R):5'- AGTGTACCTCAGAGTCTTCCCACG -3'

Sequencing Primer
(F):5'- CCGCTCAAGCTGTGTAGG -3'
(R):5'- AGTCTTCCCACGGGAGAAC -3'

Posted On

2013-05-09