Incidental Mutation 'PIT4696001:Anpep'
| ID |
556790 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Anpep
|
| Ensembl Gene |
ENSMUSG00000039062 |
| Gene Name |
alanyl aminopeptidase, membrane |
| Synonyms |
aminopeptidase N, Apn, Cd13 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
PIT4696001 (G1)
|
| Quality Score |
210.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
79471551-79497958 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 79489212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 320
(T320I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035943
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049004]
[ENSMUST00000107392]
[ENSMUST00000205502]
[ENSMUST00000206235]
|
| AlphaFold |
P97449 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049004
AA Change: T320I
PolyPhen 2
Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000035943
Gene: ENSMUSG00000039062
AA Change: T320I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
64 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M1
|
75 |
479 |
6.3e-142 |
PFAM |
|
Pfam:Peptidase_MA_2
|
355 |
502 |
1.4e-21 |
PFAM |
|
Pfam:ERAP1_C
|
618 |
944 |
2.9e-45 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107392
AA Change: T320I
PolyPhen 2
Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103015
Gene: ENSMUSG00000039062
AA Change: T320I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
64 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M1
|
75 |
479 |
2.5e-139 |
PFAM |
|
Pfam:ERAP1_C
|
618 |
943 |
2e-73 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205502
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206235
|
| Coding Region Coverage |
- 1x: 93.5%
- 3x: 91.0%
- 10x: 86.2%
- 20x: 75.9%
|
| Validation Efficiency |
100% (57/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme was thought to be involved in the metabolism of regulatory peptides by diverse cell types, including small intestinal and renal tubular epithelial cells, macrophages, granulocytes, and synaptic membranes from the CNS. Human aminopeptidase N is a receptor for one strain of human coronavirus that is an important cause of upper respiratory tract infections. Defects in this gene appear to be a cause of various types of leukemia or lymphoma. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for different knock-out alleles exhibit an increase in CD4+ thymocytes, altered macrophage adhesion, pathological neovascularization and/or altered mammary gland morphology during gestation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
G |
A |
7: 119,384,209 (GRCm39) |
|
probably null |
Het |
| Adam20 |
T |
A |
8: 41,247,985 (GRCm39) |
Y32N |
probably benign |
Het |
| Adm |
T |
C |
7: 110,227,496 (GRCm39) |
V4A |
probably benign |
Het |
| Atp8b1 |
T |
C |
18: 64,672,341 (GRCm39) |
S1008G |
possibly damaging |
Het |
| B9d1 |
T |
A |
11: 61,396,069 (GRCm39) |
M12K |
possibly damaging |
Het |
| Cad |
T |
C |
5: 31,229,438 (GRCm39) |
L1435P |
probably damaging |
Het |
| Cat |
T |
C |
2: 103,302,157 (GRCm39) |
D180G |
probably damaging |
Het |
| Cntln |
C |
T |
4: 84,892,237 (GRCm39) |
T374M |
probably damaging |
Het |
| Cyp2a5 |
G |
A |
7: 26,540,404 (GRCm39) |
R339Q |
probably benign |
Het |
| Defa22 |
T |
C |
8: 21,652,352 (GRCm39) |
L6P |
probably damaging |
Het |
| Dr1 |
T |
A |
5: 108,417,604 (GRCm39) |
I50K |
probably damaging |
Het |
| Eln |
C |
T |
5: 134,766,032 (GRCm39) |
G57E |
unknown |
Het |
| Fat4 |
T |
C |
3: 38,943,153 (GRCm39) |
I682T |
probably benign |
Het |
| Fat4 |
C |
A |
3: 39,036,506 (GRCm39) |
A3386E |
probably damaging |
Het |
| Fcgr3 |
T |
A |
1: 170,885,319 (GRCm39) |
Y102F |
probably damaging |
Het |
| Gm5930 |
A |
T |
14: 44,573,993 (GRCm39) |
L115M |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,386,291 (GRCm39) |
V3748D |
probably damaging |
Het |
| Ino80d |
A |
G |
1: 63,125,145 (GRCm39) |
S106P |
probably benign |
Het |
| Kcns3 |
C |
T |
12: 11,142,749 (GRCm39) |
|
probably benign |
Het |
| Kndc1 |
T |
A |
7: 139,512,830 (GRCm39) |
L1527Q |
probably damaging |
Het |
| Lepr |
T |
G |
4: 101,637,180 (GRCm39) |
S690A |
probably benign |
Het |
| Lrfn5 |
T |
C |
12: 61,890,343 (GRCm39) |
F544S |
probably damaging |
Het |
| Mapkap1 |
C |
A |
2: 34,509,861 (GRCm39) |
H450Q |
probably damaging |
Het |
| Mdm1 |
A |
G |
10: 117,994,445 (GRCm39) |
T485A |
probably benign |
Het |
| Megf10 |
T |
C |
18: 57,410,760 (GRCm39) |
C690R |
probably damaging |
Het |
| Myo7a |
A |
G |
7: 97,712,806 (GRCm39) |
M1723T |
probably benign |
Het |
| Nrip3 |
A |
T |
7: 109,364,714 (GRCm39) |
C137* |
probably null |
Het |
| Or5w22 |
T |
A |
2: 87,363,124 (GRCm39) |
I249N |
probably damaging |
Het |
| Pde4a |
T |
A |
9: 21,122,297 (GRCm39) |
M731K |
probably benign |
Het |
| Pebp1 |
A |
G |
5: 117,421,527 (GRCm39) |
L117P |
probably damaging |
Het |
| Phc2 |
T |
C |
4: 128,598,995 (GRCm39) |
Y51H |
probably damaging |
Het |
| Ppp2r5b |
A |
G |
19: 6,284,713 (GRCm39) |
F50S |
probably benign |
Het |
| Prpf4b |
A |
G |
13: 35,083,825 (GRCm39) |
S865G |
probably benign |
Het |
| Ptpn5 |
C |
T |
7: 46,738,354 (GRCm39) |
V243M |
probably benign |
Het |
| Rora |
T |
C |
9: 69,271,841 (GRCm39) |
L273P |
possibly damaging |
Het |
| Rtp4 |
T |
A |
16: 23,432,204 (GRCm39) |
S245R |
probably benign |
Het |
| Scgb2b20 |
C |
T |
7: 33,063,985 (GRCm39) |
G95D |
probably benign |
Het |
| Sec24b |
A |
G |
3: 129,788,040 (GRCm39) |
V820A |
probably benign |
Het |
| Sim2 |
A |
G |
16: 93,895,168 (GRCm39) |
D62G |
possibly damaging |
Het |
| Slc17a4 |
A |
T |
13: 24,084,497 (GRCm39) |
V429D |
probably benign |
Het |
| Sp2 |
T |
C |
11: 96,852,799 (GRCm39) |
T42A |
probably damaging |
Het |
| Spata3 |
G |
A |
1: 85,952,169 (GRCm39) |
R141Q |
unknown |
Het |
| Sptbn2 |
A |
T |
19: 4,795,605 (GRCm39) |
E1658D |
probably benign |
Het |
| Tcaf1 |
T |
C |
6: 42,655,473 (GRCm39) |
H501R |
probably benign |
Het |
| Tec |
G |
A |
5: 72,931,178 (GRCm39) |
T262M |
possibly damaging |
Het |
| Timm9 |
A |
T |
12: 71,172,305 (GRCm39) |
N22K |
possibly damaging |
Het |
| Tln1 |
C |
T |
4: 43,542,701 (GRCm39) |
|
probably null |
Het |
| Tmbim4 |
A |
G |
10: 120,053,529 (GRCm39) |
I109M |
probably benign |
Het |
| Tmc7 |
T |
C |
7: 118,163,566 (GRCm39) |
K110E |
probably benign |
Het |
| Tmem107 |
C |
T |
11: 68,963,399 (GRCm39) |
P136L |
probably benign |
Het |
| Ttc21b |
T |
C |
2: 66,061,563 (GRCm39) |
|
probably null |
Het |
| Ubd |
A |
C |
17: 37,506,335 (GRCm39) |
T74P |
probably damaging |
Het |
| Vps11 |
A |
G |
9: 44,269,486 (GRCm39) |
V255A |
possibly damaging |
Het |
| Vsnl1 |
T |
C |
12: 11,376,448 (GRCm39) |
T146A |
probably benign |
Het |
| Wdr38 |
G |
T |
2: 38,889,984 (GRCm39) |
|
probably null |
Het |
| Yes1 |
T |
A |
5: 32,841,969 (GRCm39) |
S498T |
possibly damaging |
Het |
| Zc3h13 |
G |
A |
14: 75,569,323 (GRCm39) |
R1390H |
probably damaging |
Het |
| Zscan4b |
A |
G |
7: 10,635,949 (GRCm39) |
V126A |
possibly damaging |
Het |
|
| Other mutations in Anpep |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Anpep
|
APN |
7 |
79,475,484 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL00089:Anpep
|
APN |
7 |
79,491,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00767:Anpep
|
APN |
7 |
79,490,638 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00901:Anpep
|
APN |
7 |
79,489,171 (GRCm39) |
missense |
probably benign |
|
|
IGL01919:Anpep
|
APN |
7 |
79,475,098 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02049:Anpep
|
APN |
7 |
79,484,929 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02195:Anpep
|
APN |
7 |
79,476,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02210:Anpep
|
APN |
7 |
79,476,652 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02584:Anpep
|
APN |
7 |
79,475,141 (GRCm39) |
splice site |
probably benign |
|
|
IGL02677:Anpep
|
APN |
7 |
79,488,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03073:Anpep
|
APN |
7 |
79,488,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03100:Anpep
|
APN |
7 |
79,486,109 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0329:Anpep
|
UTSW |
7 |
79,488,004 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0330:Anpep
|
UTSW |
7 |
79,488,004 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0619:Anpep
|
UTSW |
7 |
79,490,757 (GRCm39) |
missense |
probably benign |
|
|
R0691:Anpep
|
UTSW |
7 |
79,489,047 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1004:Anpep
|
UTSW |
7 |
79,488,004 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1005:Anpep
|
UTSW |
7 |
79,488,004 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1274:Anpep
|
UTSW |
7 |
79,488,004 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1288:Anpep
|
UTSW |
7 |
79,488,004 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1289:Anpep
|
UTSW |
7 |
79,488,004 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1532:Anpep
|
UTSW |
7 |
79,476,696 (GRCm39) |
nonsense |
probably null |
|
|
R1540:Anpep
|
UTSW |
7 |
79,488,004 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1574:Anpep
|
UTSW |
7 |
79,488,155 (GRCm39) |
splice site |
probably null |
|
|
R1574:Anpep
|
UTSW |
7 |
79,488,155 (GRCm39) |
splice site |
probably null |
|
|
R1618:Anpep
|
UTSW |
7 |
79,485,165 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1627:Anpep
|
UTSW |
7 |
79,491,759 (GRCm39) |
missense |
probably benign |
|
|
R1693:Anpep
|
UTSW |
7 |
79,488,004 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1717:Anpep
|
UTSW |
7 |
79,488,004 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1745:Anpep
|
UTSW |
7 |
79,488,004 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1746:Anpep
|
UTSW |
7 |
79,488,004 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1748:Anpep
|
UTSW |
7 |
79,488,004 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1809:Anpep
|
UTSW |
7 |
79,491,571 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1901:Anpep
|
UTSW |
7 |
79,488,004 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1902:Anpep
|
UTSW |
7 |
79,488,004 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1903:Anpep
|
UTSW |
7 |
79,488,004 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1985:Anpep
|
UTSW |
7 |
79,490,605 (GRCm39) |
splice site |
probably null |
|
|
R2379:Anpep
|
UTSW |
7 |
79,490,966 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2508:Anpep
|
UTSW |
7 |
79,488,039 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3110:Anpep
|
UTSW |
7 |
79,491,720 (GRCm39) |
missense |
probably benign |
0.15 |
|
R3112:Anpep
|
UTSW |
7 |
79,491,720 (GRCm39) |
missense |
probably benign |
0.15 |
|
R3898:Anpep
|
UTSW |
7 |
79,488,973 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3899:Anpep
|
UTSW |
7 |
79,488,973 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3900:Anpep
|
UTSW |
7 |
79,488,973 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4211:Anpep
|
UTSW |
7 |
79,490,744 (GRCm39) |
nonsense |
probably null |
|
|
R4701:Anpep
|
UTSW |
7 |
79,489,213 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4716:Anpep
|
UTSW |
7 |
79,476,380 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5020:Anpep
|
UTSW |
7 |
79,483,475 (GRCm39) |
missense |
probably benign |
|
|
R5042:Anpep
|
UTSW |
7 |
79,489,217 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5084:Anpep
|
UTSW |
7 |
79,476,618 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5319:Anpep
|
UTSW |
7 |
79,491,479 (GRCm39) |
missense |
probably benign |
|
|
R5593:Anpep
|
UTSW |
7 |
79,491,794 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5778:Anpep
|
UTSW |
7 |
79,486,139 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5852:Anpep
|
UTSW |
7 |
79,488,720 (GRCm39) |
nonsense |
probably null |
|
|
R5906:Anpep
|
UTSW |
7 |
79,483,423 (GRCm39) |
missense |
probably benign |
|
|
R6164:Anpep
|
UTSW |
7 |
79,491,953 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6254:Anpep
|
UTSW |
7 |
79,488,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6284:Anpep
|
UTSW |
7 |
79,475,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6380:Anpep
|
UTSW |
7 |
79,491,644 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6594:Anpep
|
UTSW |
7 |
79,491,109 (GRCm39) |
splice site |
probably null |
|
|
R6746:Anpep
|
UTSW |
7 |
79,488,933 (GRCm39) |
splice site |
probably null |
|
|
R6920:Anpep
|
UTSW |
7 |
79,475,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7060:Anpep
|
UTSW |
7 |
79,491,542 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7072:Anpep
|
UTSW |
7 |
79,485,127 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7095:Anpep
|
UTSW |
7 |
79,491,950 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7102:Anpep
|
UTSW |
7 |
79,486,061 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7178:Anpep
|
UTSW |
7 |
79,490,736 (GRCm39) |
missense |
probably benign |
|
|
R7223:Anpep
|
UTSW |
7 |
79,475,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7344:Anpep
|
UTSW |
7 |
79,488,398 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7441:Anpep
|
UTSW |
7 |
79,477,392 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7479:Anpep
|
UTSW |
7 |
79,485,118 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7503:Anpep
|
UTSW |
7 |
79,476,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7683:Anpep
|
UTSW |
7 |
79,488,946 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7912:Anpep
|
UTSW |
7 |
79,488,174 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7935:Anpep
|
UTSW |
7 |
79,476,709 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8036:Anpep
|
UTSW |
7 |
79,491,646 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8039:Anpep
|
UTSW |
7 |
79,489,148 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8470:Anpep
|
UTSW |
7 |
79,489,269 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8549:Anpep
|
UTSW |
7 |
79,490,644 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8723:Anpep
|
UTSW |
7 |
79,488,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8726:Anpep
|
UTSW |
7 |
79,490,641 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9042:Anpep
|
UTSW |
7 |
79,488,510 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9151:Anpep
|
UTSW |
7 |
79,491,785 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9200:Anpep
|
UTSW |
7 |
79,490,870 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9216:Anpep
|
UTSW |
7 |
79,486,049 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9570:Anpep
|
UTSW |
7 |
79,476,661 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9769:Anpep
|
UTSW |
7 |
79,488,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Anpep
|
UTSW |
7 |
79,477,387 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAAGACCAGGGAGCTCTC -3'
(R):5'- GTTGGTCTCCATCCTGACTTATCAG -3'
Sequencing Primer
(F):5'- ATGGCTCCAGCGTTGAAGTC -3'
(R):5'- TGACTTATCAGGGACCTCTAGC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation