Incidental Mutation 'R3547:Fap'
| ID |
268224 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fap
|
| Ensembl Gene |
ENSMUSG00000000392 |
| Gene Name |
fibroblast activation protein |
| Synonyms |
|
| MMRRC Submission |
040666-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3547 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| 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: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
98% (62/63) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg5 |
A |
G |
3: 54,656,736 (GRCm39) |
R316G |
probably benign |
Het |
| Anapc1 |
T |
C |
2: 128,484,602 (GRCm39) |
N1121D |
possibly damaging |
Het |
| Antxr2 |
A |
T |
5: 98,125,516 (GRCm39) |
I247N |
probably benign |
Het |
| Arid5b |
C |
T |
10: 67,934,292 (GRCm39) |
G294S |
probably benign |
Het |
| Arl9 |
A |
G |
5: 77,158,326 (GRCm39) |
D136G |
probably benign |
Het |
| Atxn1l |
A |
G |
8: 110,458,981 (GRCm39) |
L427P |
possibly damaging |
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 |
| Clec4a3 |
A |
G |
6: 122,941,239 (GRCm39) |
E78G |
probably damaging |
Het |
| Clip1 |
A |
G |
5: 123,769,141 (GRCm39) |
L532P |
probably damaging |
Het |
| Col12a1 |
T |
G |
9: 79,540,698 (GRCm39) |
K2429T |
probably damaging |
Het |
| Col20a1 |
G |
T |
2: 180,636,704 (GRCm39) |
E228D |
probably damaging |
Het |
| Cx3cl1 |
A |
C |
8: 95,504,752 (GRCm39) |
E56A |
possibly damaging |
Het |
| Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
| Fhit |
T |
C |
14: 9,870,095 (GRCm38) |
T125A |
probably benign |
Het |
| Gdi1 |
T |
A |
X: 73,351,414 (GRCm39) |
F175L |
possibly damaging |
Het |
| Golga7b |
T |
C |
19: 42,255,510 (GRCm39) |
M129T |
possibly damaging |
Het |
| Gpr149 |
A |
T |
3: 62,502,549 (GRCm39) |
C436S |
probably benign |
Het |
| Grid2 |
T |
C |
6: 64,297,005 (GRCm39) |
V456A |
probably damaging |
Het |
| Gstcd |
G |
T |
3: 132,790,599 (GRCm39) |
T56K |
possibly damaging |
Het |
| Hydin |
G |
A |
8: 111,308,699 (GRCm39) |
G3995D |
possibly damaging |
Het |
| Igkv4-50 |
G |
A |
6: 69,677,765 (GRCm39) |
T113I |
probably benign |
Het |
| Igkv5-43 |
A |
G |
6: 69,753,240 (GRCm39) |
|
probably benign |
Het |
| Igsf10 |
G |
A |
3: 59,237,962 (GRCm39) |
H740Y |
probably benign |
Het |
| Igsf10 |
C |
A |
3: 59,243,935 (GRCm39) |
R133L |
probably damaging |
Het |
| Lcmt1 |
A |
G |
7: 122,999,702 (GRCm39) |
E94G |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,490,300 (GRCm39) |
L287H |
probably damaging |
Het |
| Ly6m |
C |
A |
15: 74,753,463 (GRCm39) |
A18S |
probably null |
Het |
| Map3k3 |
C |
T |
11: 106,033,379 (GRCm39) |
Q211* |
probably null |
Het |
| Map4 |
T |
A |
9: 109,881,266 (GRCm39) |
F43L |
possibly damaging |
Het |
| Mcf2 |
T |
C |
X: 59,180,806 (GRCm39) |
K74R |
probably damaging |
Het |
| Mylk |
G |
A |
16: 34,700,538 (GRCm39) |
V460I |
possibly damaging |
Het |
| Nat1 |
A |
G |
8: 67,943,684 (GRCm39) |
D23G |
possibly damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,317,939 (GRCm39) |
F1959L |
probably damaging |
Het |
| Ncf1 |
T |
A |
5: 134,255,463 (GRCm39) |
K143* |
probably null |
Het |
| Nlrp6 |
T |
G |
7: 140,506,682 (GRCm39) |
V849G |
probably benign |
Het |
| Or52b3 |
A |
G |
7: 102,203,677 (GRCm39) |
Y62C |
probably damaging |
Het |
| Pi4k2a |
C |
T |
19: 42,078,987 (GRCm39) |
P16L |
probably benign |
Het |
| Pitx3 |
T |
A |
19: 46,124,548 (GRCm39) |
Q273L |
possibly damaging |
Het |
| Ppp1r27 |
T |
A |
11: 120,441,511 (GRCm39) |
I90F |
probably damaging |
Het |
| Prickle2 |
T |
C |
6: 92,388,118 (GRCm39) |
Y428C |
probably damaging |
Het |
| Prkcq |
A |
G |
2: 11,288,627 (GRCm39) |
K527E |
probably benign |
Het |
| Prune2 |
T |
A |
19: 17,101,712 (GRCm39) |
S2405R |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,432,598 (GRCm39) |
V134A |
possibly damaging |
Het |
| Rnf167 |
T |
C |
11: 70,540,507 (GRCm39) |
I129T |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sfxn2 |
T |
C |
19: 46,578,635 (GRCm39) |
S217P |
probably damaging |
Het |
| Slc16a7 |
T |
A |
10: 125,130,569 (GRCm39) |
K39* |
probably null |
Het |
| Slc22a17 |
A |
G |
14: 55,144,694 (GRCm39) |
L573P |
probably damaging |
Het |
| Slc25a45 |
T |
C |
19: 5,934,574 (GRCm39) |
Y181H |
probably damaging |
Het |
| Slc6a20a |
A |
G |
9: 123,489,567 (GRCm39) |
S159P |
probably damaging |
Het |
| Tbc1d1 |
G |
A |
5: 64,443,350 (GRCm39) |
R523Q |
probably damaging |
Het |
| Thnsl1 |
T |
G |
2: 21,217,438 (GRCm39) |
D397E |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,575,450 (GRCm39) |
I25148F |
probably damaging |
Het |
| Ube4b |
T |
C |
4: 149,419,573 (GRCm39) |
D1045G |
probably damaging |
Het |
| Ugt8a |
A |
T |
3: 125,661,031 (GRCm39) |
L487* |
probably null |
Het |
| Uprt |
T |
A |
X: 103,526,934 (GRCm39) |
L123H |
probably damaging |
Het |
| Usp9x |
T |
C |
X: 12,994,629 (GRCm39) |
L940P |
probably benign |
Het |
| Utp20 |
T |
C |
10: 88,618,551 (GRCm39) |
K1150E |
probably damaging |
Het |
| Uty |
A |
C |
Y: 1,158,512 (GRCm39) |
D463E |
possibly damaging |
Het |
| Vmn1r7 |
A |
G |
6: 57,001,834 (GRCm39) |
I142T |
possibly damaging |
Het |
| Vps13d |
T |
G |
4: 144,801,545 (GRCm39) |
T3558P |
probably damaging |
Het |
| Zfp319 |
A |
G |
8: 96,055,445 (GRCm39) |
S253P |
probably damaging |
Het |
| Zfp831 |
A |
G |
2: 174,499,476 (GRCm39) |
S1265G |
probably benign |
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 |
|
R3546: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'- ACCCTTAGTCACATCAGGGC -3'
Sequencing Primer
(F):5'- CTATGGAAAAGTAGATGGTCAACTG -3'
(R):5'- TTAGTCACATCAGGGCCACCC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation