Incidental Mutation 'R5030:Lnpep'
| ID |
391660 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lnpep
|
| Ensembl Gene |
ENSMUSG00000023845 |
| Gene Name |
leucyl/cystinyl aminopeptidase |
| Synonyms |
IRAP, 4732490P18Rik, 2010309L07Rik, gp160, vp165 |
| MMRRC Submission |
042621-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5030 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
17747985-17846303 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17799571 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 28
(V28A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041047]
|
| AlphaFold |
Q8C129 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041047
AA Change: V28A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000036998
Gene: ENSMUSG00000023845
AA Change: V28A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
60 |
71 |
N/A |
INTRINSIC |
|
transmembrane domain
|
110 |
132 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M1
|
167 |
552 |
9.2e-143 |
PFAM |
|
Pfam:ERAP1_C
|
689 |
1007 |
1e-60 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231291
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231515
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231666
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232462
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232515
|
| Meta Mutation Damage Score |
0.1609 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
98% (87/89) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc-dependent aminopeptidase that cleaves vasopressin, oxytocin, lys-bradykinin, met-enkephalin, dynorphin A and other peptide hormones. The protein can be secreted in maternal serum, reside in intracellular vesicles with the insulin-responsive glucose transporter GLUT4, or form a type II integral membrane glycoprotein. The protein catalyzes the final step in the conversion of angiotensinogen to angiotensin IV (AT4) and is also a receptor for AT4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a somewhat reduced tissue uptake of glucose either basally or after insulin stimulation. Mice homozygous for a different knock-out allele exhibit impaired coordination at 3 months and impaired spatial working memory in a Y maze at 6 months of age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930584F24Rik |
A |
C |
5: 26,684,783 (GRCm39) |
|
noncoding transcript |
Het |
| Abca15 |
A |
T |
7: 119,939,224 (GRCm39) |
E206V |
probably damaging |
Het |
| Acy1 |
A |
G |
9: 106,310,596 (GRCm39) |
F343L |
probably benign |
Het |
| Adam22 |
T |
C |
5: 8,229,645 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,607,948 (GRCm39) |
D4041E |
probably benign |
Het |
| Akr1c14 |
T |
C |
13: 4,129,102 (GRCm39) |
S166P |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,604,946 (GRCm39) |
C2199S |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,431,409 (GRCm39) |
Y316* |
probably null |
Het |
| Atp1a1 |
T |
C |
3: 101,487,133 (GRCm39) |
D892G |
probably benign |
Het |
| Auts2 |
A |
G |
5: 131,472,336 (GRCm39) |
V581A |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 36,997,548 (GRCm39) |
|
probably benign |
Het |
| Boll |
T |
A |
1: 55,394,894 (GRCm39) |
N57I |
probably damaging |
Het |
| C1s2 |
A |
C |
6: 124,612,547 (GRCm39) |
V36G |
possibly damaging |
Het |
| Capza1 |
T |
C |
3: 104,748,154 (GRCm39) |
Y70C |
probably damaging |
Het |
| Carnmt1 |
T |
C |
19: 18,668,950 (GRCm39) |
S292P |
possibly damaging |
Het |
| Cemip2 |
T |
G |
19: 21,819,469 (GRCm39) |
F1087V |
probably benign |
Het |
| Cyp2g1 |
T |
G |
7: 26,520,226 (GRCm39) |
V486G |
probably benign |
Het |
| Dennd6b |
T |
A |
15: 89,080,454 (GRCm39) |
T49S |
possibly damaging |
Het |
| Dhx58 |
A |
T |
11: 100,586,963 (GRCm39) |
I610N |
probably damaging |
Het |
| Elapor2 |
T |
A |
5: 9,478,502 (GRCm39) |
N455K |
probably damaging |
Het |
| Fam170a |
T |
A |
18: 50,415,021 (GRCm39) |
N222K |
probably benign |
Het |
| Fbn1 |
A |
G |
2: 125,254,624 (GRCm39) |
V213A |
possibly damaging |
Het |
| Frem3 |
A |
C |
8: 81,339,876 (GRCm39) |
D723A |
possibly damaging |
Het |
| Fsip2 |
A |
T |
2: 82,818,836 (GRCm39) |
K4856N |
possibly damaging |
Het |
| Galnt17 |
A |
G |
5: 130,905,351 (GRCm39) |
V571A |
probably damaging |
Het |
| Gm6124 |
A |
G |
7: 38,872,454 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8973 |
A |
G |
15: 98,904,136 (GRCm39) |
|
noncoding transcript |
Het |
| Gpd2 |
A |
G |
2: 57,194,417 (GRCm39) |
T107A |
probably damaging |
Het |
| Hsd17b11 |
G |
A |
5: 104,151,158 (GRCm39) |
A192V |
probably damaging |
Het |
| Igkv6-25 |
C |
T |
6: 70,192,426 (GRCm39) |
Q4* |
probably null |
Het |
| Kalrn |
A |
G |
16: 33,796,112 (GRCm39) |
I1221T |
probably benign |
Het |
| Klhl9 |
G |
T |
4: 88,638,771 (GRCm39) |
T490K |
possibly damaging |
Het |
| Lrrc37 |
G |
A |
11: 103,425,675 (GRCm39) |
P1419S |
unknown |
Het |
| Man2c1 |
A |
G |
9: 57,047,923 (GRCm39) |
H843R |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,570,682 (GRCm39) |
K680E |
unknown |
Het |
| Metap2 |
A |
T |
10: 93,715,539 (GRCm39) |
|
probably null |
Het |
| Mfsd2a |
A |
T |
4: 122,843,949 (GRCm39) |
I340N |
possibly damaging |
Het |
| Mgll |
T |
C |
6: 88,795,647 (GRCm39) |
|
probably null |
Het |
| Myh9 |
A |
G |
15: 77,691,998 (GRCm39) |
|
probably benign |
Het |
| Ncapd3 |
A |
T |
9: 26,983,062 (GRCm39) |
I937F |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,224,504 (GRCm39) |
|
probably benign |
Het |
| Nova1 |
A |
G |
12: 46,747,030 (GRCm39) |
S416P |
probably damaging |
Het |
| Oosp3 |
T |
C |
19: 11,678,308 (GRCm39) |
W95R |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2t26 |
A |
T |
11: 49,039,188 (GRCm39) |
M35L |
probably benign |
Het |
| Or5p76 |
T |
A |
7: 108,122,384 (GRCm39) |
I258F |
possibly damaging |
Het |
| Or7e175 |
A |
T |
9: 20,049,363 (GRCm39) |
K317M |
probably benign |
Het |
| Pcdha7 |
T |
A |
18: 37,108,501 (GRCm39) |
S509T |
probably damaging |
Het |
| Pdgfrb |
T |
C |
18: 61,198,207 (GRCm39) |
V296A |
probably benign |
Het |
| Pdzd2 |
A |
T |
15: 12,592,494 (GRCm39) |
L50* |
probably null |
Het |
| Plcl2 |
G |
T |
17: 50,914,347 (GRCm39) |
R452L |
possibly damaging |
Het |
| Poldip3 |
A |
T |
15: 83,022,392 (GRCm39) |
F131I |
possibly damaging |
Het |
| Pwwp3a |
T |
C |
10: 80,076,209 (GRCm39) |
|
probably benign |
Het |
| Rffl |
G |
A |
11: 82,703,543 (GRCm39) |
R127* |
probably null |
Het |
| Sec24d |
T |
A |
3: 123,152,550 (GRCm39) |
V854E |
probably damaging |
Het |
| Sgo2a |
T |
A |
1: 58,056,918 (GRCm39) |
L1034* |
probably null |
Het |
| Slc39a4 |
C |
T |
15: 76,498,283 (GRCm39) |
D385N |
probably damaging |
Het |
| Spaca1 |
A |
T |
4: 34,039,247 (GRCm39) |
N95K |
possibly damaging |
Het |
| Spag17 |
C |
T |
3: 99,992,657 (GRCm39) |
Q1718* |
probably null |
Het |
| Spdl1 |
C |
T |
11: 34,714,267 (GRCm39) |
A141T |
probably benign |
Het |
| Stxbp3-ps |
A |
T |
19: 9,535,714 (GRCm39) |
|
noncoding transcript |
Het |
| Supv3l1 |
G |
T |
10: 62,266,394 (GRCm39) |
A594D |
probably damaging |
Het |
| Tcaf3 |
A |
G |
6: 42,573,867 (GRCm39) |
V115A |
probably benign |
Het |
| Tmem131 |
T |
C |
1: 36,866,255 (GRCm39) |
N483S |
possibly damaging |
Het |
| Tonsl |
A |
T |
15: 76,522,301 (GRCm39) |
C231S |
probably damaging |
Het |
| Trav9n-4 |
T |
C |
14: 53,532,305 (GRCm39) |
F53S |
possibly damaging |
Het |
| Trgv7 |
G |
T |
13: 19,362,558 (GRCm39) |
L82F |
probably damaging |
Het |
| Trim45 |
T |
G |
3: 100,835,388 (GRCm39) |
V457G |
probably damaging |
Het |
| Trpm1 |
T |
A |
7: 63,885,579 (GRCm39) |
I865N |
probably damaging |
Het |
| Trpm3 |
C |
A |
19: 22,676,130 (GRCm39) |
L99I |
probably benign |
Het |
| Twist1 |
T |
A |
12: 34,008,440 (GRCm39) |
L155Q |
probably damaging |
Het |
| Vac14 |
A |
G |
8: 111,437,018 (GRCm39) |
E577G |
possibly damaging |
Het |
| Vmn1r184 |
T |
C |
7: 25,966,881 (GRCm39) |
V209A |
probably benign |
Het |
| Xdh |
C |
T |
17: 74,198,288 (GRCm39) |
G1200R |
probably damaging |
Het |
| Zbbx |
C |
T |
3: 74,990,990 (GRCm39) |
D290N |
possibly damaging |
Het |
| Zbtb40 |
T |
C |
4: 136,725,263 (GRCm39) |
T585A |
probably benign |
Het |
| Zc3h4 |
T |
A |
7: 16,156,155 (GRCm39) |
D262E |
unknown |
Het |
| Zfp777 |
G |
T |
6: 48,014,601 (GRCm39) |
D368E |
probably damaging |
Het |
|
| Other mutations in Lnpep |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01983:Lnpep
|
APN |
17 |
17,751,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02008:Lnpep
|
APN |
17 |
17,791,219 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL02040:Lnpep
|
APN |
17 |
17,765,167 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02392:Lnpep
|
APN |
17 |
17,799,445 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02417:Lnpep
|
APN |
17 |
17,765,165 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL02659:Lnpep
|
APN |
17 |
17,791,162 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02697:Lnpep
|
APN |
17 |
17,773,455 (GRCm39) |
missense |
probably benign |
|
|
IGL02947:Lnpep
|
APN |
17 |
17,791,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03493:Lnpep
|
APN |
17 |
17,799,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
I0000:Lnpep
|
UTSW |
17 |
17,799,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4504001:Lnpep
|
UTSW |
17 |
17,799,289 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0528:Lnpep
|
UTSW |
17 |
17,751,394 (GRCm39) |
splice site |
probably benign |
|
|
R0535:Lnpep
|
UTSW |
17 |
17,791,935 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0540:Lnpep
|
UTSW |
17 |
17,758,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0586:Lnpep
|
UTSW |
17 |
17,795,658 (GRCm39) |
splice site |
probably benign |
|
|
R0607:Lnpep
|
UTSW |
17 |
17,758,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1502:Lnpep
|
UTSW |
17 |
17,791,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1570:Lnpep
|
UTSW |
17 |
17,799,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1733:Lnpep
|
UTSW |
17 |
17,773,575 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1826:Lnpep
|
UTSW |
17 |
17,783,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2015:Lnpep
|
UTSW |
17 |
17,799,325 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2029:Lnpep
|
UTSW |
17 |
17,788,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4593:Lnpep
|
UTSW |
17 |
17,799,289 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4638:Lnpep
|
UTSW |
17 |
17,795,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4741:Lnpep
|
UTSW |
17 |
17,791,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4919:Lnpep
|
UTSW |
17 |
17,799,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5111:Lnpep
|
UTSW |
17 |
17,798,872 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5203:Lnpep
|
UTSW |
17 |
17,757,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5320:Lnpep
|
UTSW |
17 |
17,766,727 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5419:Lnpep
|
UTSW |
17 |
17,786,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5535:Lnpep
|
UTSW |
17 |
17,758,956 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5680:Lnpep
|
UTSW |
17 |
17,799,444 (GRCm39) |
nonsense |
probably null |
|
|
R6134:Lnpep
|
UTSW |
17 |
17,773,454 (GRCm39) |
missense |
probably benign |
|
|
R6142:Lnpep
|
UTSW |
17 |
17,786,943 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6189:Lnpep
|
UTSW |
17 |
17,787,001 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6225:Lnpep
|
UTSW |
17 |
17,799,245 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6350:Lnpep
|
UTSW |
17 |
17,783,071 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6357:Lnpep
|
UTSW |
17 |
17,773,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6765:Lnpep
|
UTSW |
17 |
17,750,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6794:Lnpep
|
UTSW |
17 |
17,751,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7013:Lnpep
|
UTSW |
17 |
17,788,625 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7208:Lnpep
|
UTSW |
17 |
17,773,172 (GRCm39) |
nonsense |
probably null |
|
|
R7268:Lnpep
|
UTSW |
17 |
17,758,803 (GRCm39) |
missense |
probably benign |
|
|
R7564:Lnpep
|
UTSW |
17 |
17,798,854 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7746:Lnpep
|
UTSW |
17 |
17,758,824 (GRCm39) |
missense |
probably benign |
|
|
R7853:Lnpep
|
UTSW |
17 |
17,783,109 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7881:Lnpep
|
UTSW |
17 |
17,787,001 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8015:Lnpep
|
UTSW |
17 |
17,766,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8070:Lnpep
|
UTSW |
17 |
17,758,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8835:Lnpep
|
UTSW |
17 |
17,750,118 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8843:Lnpep
|
UTSW |
17 |
17,773,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9136:Lnpep
|
UTSW |
17 |
17,750,090 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9274:Lnpep
|
UTSW |
17 |
17,758,837 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9427:Lnpep
|
UTSW |
17 |
17,795,609 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9789:Lnpep
|
UTSW |
17 |
17,795,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0004:Lnpep
|
UTSW |
17 |
17,765,074 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCTGAGCTTCTGTTCATG -3'
(R):5'- TGCACTCAGTGACTACCAAC -3'
Sequencing Primer
(F):5'- CCTGAGCTTCTGTTCATGAAGGAC -3'
(R):5'- TCAGTGACTACCAACAATGAGAAATC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation