Incidental Mutation 'R8835:Lnpep'
| ID |
674118 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lnpep
|
| Ensembl Gene |
ENSMUSG00000023845 |
| Gene Name |
leucyl/cystinyl aminopeptidase |
| Synonyms |
IRAP, 4732490P18Rik, 2010309L07Rik, gp160, vp165 |
| MMRRC Submission |
068663-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8835 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
17747985-17846303 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 17750118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 991
(S991T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041047]
|
| AlphaFold |
Q8C129 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041047
AA Change: S991T
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000036998
Gene: ENSMUSG00000023845
AA Change: S991T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
99% (67/68) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
G |
C |
3: 121,896,433 (GRCm39) |
G555A |
probably benign |
Het |
| Afmid |
A |
G |
11: 117,718,914 (GRCm39) |
K15E |
probably benign |
Het |
| Ankfn1 |
T |
C |
11: 89,429,379 (GRCm39) |
I2V |
probably benign |
Het |
| Arhgap21 |
A |
T |
2: 20,972,144 (GRCm39) |
C26* |
probably null |
Het |
| Arhgef38 |
A |
T |
3: 132,837,832 (GRCm39) |
D699E |
unknown |
Het |
| Atxn2 |
T |
C |
5: 121,940,248 (GRCm39) |
S1008P |
possibly damaging |
Het |
| C1rb |
A |
G |
6: 124,552,217 (GRCm39) |
K312E |
probably benign |
Het |
| Cc2d1b |
G |
A |
4: 108,484,264 (GRCm39) |
R424Q |
probably damaging |
Het |
| Ccdc27 |
G |
A |
4: 154,127,023 (GRCm39) |
T13I |
unknown |
Het |
| Cdc42bpa |
G |
T |
1: 179,896,916 (GRCm39) |
V400F |
probably damaging |
Het |
| Cemip |
C |
A |
7: 83,586,651 (GRCm39) |
G1301V |
probably damaging |
Het |
| Cep170 |
A |
G |
1: 176,584,429 (GRCm39) |
L650P |
probably benign |
Het |
| Cfap100 |
T |
A |
6: 90,386,597 (GRCm39) |
D222V |
|
Het |
| Cog8 |
A |
T |
8: 107,773,920 (GRCm39) |
|
probably benign |
Het |
| Col4a4 |
A |
G |
1: 82,447,313 (GRCm39) |
L1279P |
unknown |
Het |
| Cyyr1 |
A |
T |
16: 85,254,553 (GRCm39) |
Y116* |
probably null |
Het |
| Dlgap4 |
A |
T |
2: 156,587,946 (GRCm39) |
S597C |
probably damaging |
Het |
| Dpysl5 |
T |
A |
5: 30,936,282 (GRCm39) |
|
probably null |
Het |
| Dtl |
G |
T |
1: 191,293,609 (GRCm39) |
H189Q |
probably damaging |
Het |
| Epha1 |
A |
T |
6: 42,342,723 (GRCm39) |
N275K |
probably benign |
Het |
| Fbxo11 |
A |
G |
17: 88,321,874 (GRCm39) |
C110R |
|
Het |
| Fhod1 |
A |
G |
8: 106,065,484 (GRCm39) |
|
probably null |
Het |
| Fndc1 |
A |
C |
17: 7,958,111 (GRCm39) |
F1712C |
probably damaging |
Het |
| Gcnt7 |
G |
A |
2: 172,295,957 (GRCm39) |
T289M |
probably damaging |
Het |
| Gm11020 |
A |
T |
8: 105,048,293 (GRCm39) |
E32V |
probably null |
Het |
| Hoxb1 |
C |
T |
11: 96,256,627 (GRCm39) |
|
probably benign |
Het |
| Ibtk |
G |
A |
9: 85,619,563 (GRCm39) |
L126F |
possibly damaging |
Het |
| Il17rb |
T |
G |
14: 29,722,308 (GRCm39) |
E241A |
possibly damaging |
Het |
| Kdm3b |
G |
A |
18: 34,941,802 (GRCm39) |
R631Q |
probably damaging |
Het |
| Mctp2 |
T |
G |
7: 71,852,161 (GRCm39) |
E455A |
probably benign |
Het |
| Mgat4a |
A |
T |
1: 37,491,372 (GRCm39) |
I421N |
possibly damaging |
Het |
| Myof |
C |
A |
19: 37,955,547 (GRCm39) |
V526L |
possibly damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nav2 |
G |
A |
7: 49,248,551 (GRCm39) |
G2297D |
possibly damaging |
Het |
| Nipa2 |
A |
T |
7: 55,583,307 (GRCm39) |
|
probably benign |
Het |
| Nkx6-1 |
G |
T |
5: 101,811,971 (GRCm39) |
P44T |
unknown |
Het |
| Nploc4 |
T |
C |
11: 120,309,122 (GRCm39) |
K160R |
possibly damaging |
Het |
| Olfm3 |
C |
A |
3: 114,916,061 (GRCm39) |
A331D |
probably damaging |
Het |
| Or10g6 |
A |
C |
9: 39,934,171 (GRCm39) |
S161R |
possibly damaging |
Het |
| Or1e33 |
T |
A |
11: 73,738,702 (GRCm39) |
H83L |
probably benign |
Het |
| Or52s1 |
T |
A |
7: 102,861,928 (GRCm39) |
I287K |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,528,264 (GRCm39) |
N1898S |
probably benign |
Het |
| Pde1a |
G |
A |
2: 79,708,522 (GRCm39) |
L299F |
probably damaging |
Het |
| Pole |
T |
C |
5: 110,454,775 (GRCm39) |
Y1003H |
probably damaging |
Het |
| Ppl |
C |
G |
16: 4,906,854 (GRCm39) |
R1147P |
probably damaging |
Het |
| Prom1 |
T |
G |
5: 44,175,722 (GRCm39) |
Y533S |
probably damaging |
Het |
| Prrt4 |
C |
A |
6: 29,169,986 (GRCm39) |
C822F |
probably damaging |
Het |
| Prss12 |
A |
C |
3: 123,285,201 (GRCm39) |
D542A |
possibly damaging |
Het |
| Ptrh2 |
T |
C |
11: 86,580,412 (GRCm39) |
Y10H |
probably damaging |
Het |
| Pum1 |
C |
T |
4: 130,471,064 (GRCm39) |
T439M |
probably damaging |
Het |
| Rarb |
A |
T |
14: 16,575,011 (GRCm38) |
F2I |
probably benign |
Het |
| Rpp21 |
G |
A |
17: 36,566,678 (GRCm39) |
S127L |
probably benign |
Het |
| Scgb1b19 |
T |
G |
7: 32,986,948 (GRCm39) |
V33G |
probably damaging |
Het |
| Smc1b |
A |
T |
15: 85,013,949 (GRCm39) |
V74D |
possibly damaging |
Het |
| Spint3 |
T |
A |
2: 164,411,923 (GRCm39) |
K29* |
probably null |
Het |
| Spns1 |
G |
A |
7: 125,971,593 (GRCm39) |
S319F |
possibly damaging |
Het |
| Tacc2 |
T |
A |
7: 130,228,258 (GRCm39) |
W1648R |
probably benign |
Het |
| Tbc1d21 |
C |
G |
9: 58,273,991 (GRCm39) |
V62L |
probably damaging |
Het |
| Tectb |
A |
G |
19: 55,172,270 (GRCm39) |
N130S |
probably benign |
Het |
| Tln2 |
A |
T |
9: 67,304,975 (GRCm39) |
|
probably benign |
Het |
| Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
| Tpd52l1 |
G |
T |
10: 31,255,314 (GRCm39) |
T11K |
probably benign |
Het |
| Ttll10 |
G |
T |
4: 156,133,055 (GRCm39) |
P10T |
probably benign |
Het |
| Vmn1r215 |
A |
G |
13: 23,260,409 (GRCm39) |
I150V |
possibly damaging |
Het |
| Zdhhc11 |
T |
A |
13: 74,127,411 (GRCm39) |
Y263N |
probably damaging |
Het |
| Zfp354a |
C |
T |
11: 50,960,628 (GRCm39) |
R279* |
probably null |
Het |
| Zfp715 |
A |
G |
7: 42,948,430 (GRCm39) |
I510T |
|
Het |
| Zfp735 |
A |
T |
11: 73,601,692 (GRCm39) |
H212L |
possibly damaging |
Het |
| Zfpm1 |
A |
G |
8: 123,063,772 (GRCm39) |
T944A |
unknown |
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 |
|
R5030:Lnpep
|
UTSW |
17 |
17,799,571 (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 |
|
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'- AAATACAATTGGGCCCTGAGC -3'
(R):5'- GGCTGTTCCTGAATGTTACCATAC -3'
Sequencing Primer
(F):5'- TACAATTGGGCCCTGAGCTAACTAG -3'
(R):5'- GAATGTTACCATACTCCCCCTAC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation