Incidental Mutation 'R6225:Lnpep'
| ID |
504299 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lnpep
|
| Ensembl Gene |
ENSMUSG00000023845 |
| Gene Name |
leucyl/cystinyl aminopeptidase |
| Synonyms |
IRAP, 4732490P18Rik, 2010309L07Rik, gp160, vp165 |
| MMRRC Submission |
044356-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6225 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
17747985-17846303 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 17799245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 137
(T137A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041047]
|
| AlphaFold |
Q8C129 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041047
AA Change: T137A
PolyPhen 2
Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000036998
Gene: ENSMUSG00000023845
AA Change: T137A
| 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 |
0.0823 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (74/74) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
A |
G |
11: 105,870,445 (GRCm39) |
H288R |
possibly damaging |
Het |
| Adh1 |
T |
C |
3: 137,995,565 (GRCm39) |
F323L |
probably benign |
Het |
| Adss1 |
A |
C |
12: 112,600,837 (GRCm39) |
H226P |
probably damaging |
Het |
| Ahrr |
A |
G |
13: 74,371,031 (GRCm39) |
S230P |
possibly damaging |
Het |
| Akap9 |
T |
C |
5: 4,012,105 (GRCm39) |
V936A |
probably damaging |
Het |
| B4galnt2 |
A |
G |
11: 95,759,268 (GRCm39) |
Y339H |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,002,453 (GRCm39) |
V1466A |
probably damaging |
Het |
| C4b |
C |
A |
17: 34,957,848 (GRCm39) |
G611V |
possibly damaging |
Het |
| Cacna1i |
A |
G |
15: 80,205,427 (GRCm39) |
M128V |
probably damaging |
Het |
| Chia1 |
T |
C |
3: 106,038,213 (GRCm39) |
S370P |
possibly damaging |
Het |
| Cops6 |
T |
C |
5: 138,159,673 (GRCm39) |
V9A |
possibly damaging |
Het |
| D630003M21Rik |
A |
T |
2: 158,059,321 (GRCm39) |
I193K |
probably benign |
Het |
| Daam2 |
T |
C |
17: 49,801,467 (GRCm39) |
D90G |
probably damaging |
Het |
| Fads3 |
A |
G |
19: 10,019,202 (GRCm39) |
D36G |
probably benign |
Het |
| Fam185a |
T |
C |
5: 21,630,554 (GRCm39) |
V130A |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,172,463 (GRCm39) |
N1928K |
probably damaging |
Het |
| Fstl3 |
A |
G |
10: 79,615,843 (GRCm39) |
M110V |
probably benign |
Het |
| G2e3 |
A |
G |
12: 51,415,919 (GRCm39) |
T552A |
possibly damaging |
Het |
| Gfra1 |
G |
A |
19: 58,226,830 (GRCm39) |
T462I |
probably damaging |
Het |
| Glrx2 |
T |
A |
1: 143,621,121 (GRCm39) |
|
probably benign |
Het |
| Gm10100 |
G |
T |
10: 77,562,498 (GRCm39) |
C60F |
possibly damaging |
Het |
| Gm43302 |
T |
A |
5: 105,425,605 (GRCm39) |
K275* |
probably null |
Het |
| Gm6569 |
A |
G |
15: 73,711,640 (GRCm39) |
|
probably benign |
Het |
| Herc6 |
G |
T |
6: 57,639,139 (GRCm39) |
V867L |
possibly damaging |
Het |
| Hhipl2 |
T |
A |
1: 183,209,459 (GRCm39) |
|
probably null |
Het |
| Kcnj16 |
A |
T |
11: 110,916,378 (GRCm39) |
K347* |
probably null |
Het |
| Kcnt2 |
T |
A |
1: 140,354,661 (GRCm39) |
C305* |
probably null |
Het |
| Large2 |
A |
G |
2: 92,196,825 (GRCm39) |
L477P |
probably damaging |
Het |
| Mettl3 |
T |
C |
14: 52,534,215 (GRCm39) |
|
probably null |
Het |
| Mical3 |
C |
T |
6: 120,935,684 (GRCm39) |
S1614N |
probably damaging |
Het |
| Mmut |
T |
A |
17: 41,249,622 (GRCm39) |
V199E |
possibly damaging |
Het |
| Morc3 |
C |
A |
16: 93,642,082 (GRCm39) |
Y100* |
probably null |
Het |
| Mrc2 |
A |
G |
11: 105,237,646 (GRCm39) |
K1108R |
probably benign |
Het |
| Mrpl2 |
T |
C |
17: 46,960,835 (GRCm39) |
V243A |
probably damaging |
Het |
| Mtor |
T |
A |
4: 148,605,794 (GRCm39) |
N1505K |
probably benign |
Het |
| Myo1g |
A |
T |
11: 6,469,168 (GRCm39) |
Y45N |
probably damaging |
Het |
| Nckap5l |
C |
A |
15: 99,325,905 (GRCm39) |
L199F |
possibly damaging |
Het |
| Ndufc2 |
A |
G |
7: 97,056,099 (GRCm39) |
T66A |
probably damaging |
Het |
| Nos1 |
T |
A |
5: 118,050,917 (GRCm39) |
H779Q |
probably damaging |
Het |
| Or12e13 |
A |
G |
2: 87,663,661 (GRCm39) |
T93A |
probably benign |
Het |
| Or13j1 |
T |
C |
4: 43,705,698 (GRCm39) |
Y290C |
probably damaging |
Het |
| Or1e23 |
T |
C |
11: 73,407,831 (GRCm39) |
N65D |
probably damaging |
Het |
| Or4c3 |
A |
G |
2: 89,851,573 (GRCm39) |
|
probably null |
Het |
| Or51ah3 |
A |
T |
7: 103,210,489 (GRCm39) |
R268S |
probably benign |
Het |
| Or5au1 |
C |
A |
14: 52,272,825 (GRCm39) |
V248L |
possibly damaging |
Het |
| Or5k16 |
T |
C |
16: 58,736,545 (GRCm39) |
N153S |
probably benign |
Het |
| Otog |
C |
T |
7: 45,898,458 (GRCm39) |
T192I |
possibly damaging |
Het |
| Oxct1 |
T |
C |
15: 4,064,812 (GRCm39) |
V50A |
probably benign |
Het |
| P3h2 |
T |
A |
16: 25,784,493 (GRCm39) |
D667V |
probably damaging |
Het |
| Pcdhb20 |
A |
G |
18: 37,638,047 (GRCm39) |
Y191C |
probably damaging |
Het |
| Pds5b |
T |
G |
5: 150,670,083 (GRCm39) |
V357G |
probably damaging |
Het |
| Pggt1b |
A |
G |
18: 46,407,674 (GRCm39) |
V81A |
possibly damaging |
Het |
| Phxr2 |
A |
G |
10: 98,962,043 (GRCm39) |
|
probably benign |
Het |
| Pnpt1 |
T |
C |
11: 29,095,469 (GRCm39) |
I406T |
probably benign |
Het |
| Ppat |
T |
C |
5: 77,070,202 (GRCm39) |
I173V |
probably damaging |
Het |
| Proser3 |
T |
C |
7: 30,243,153 (GRCm39) |
S167G |
probably damaging |
Het |
| Rnf135 |
A |
C |
11: 80,080,053 (GRCm39) |
T115P |
possibly damaging |
Het |
| Rpl22 |
C |
T |
4: 152,414,536 (GRCm39) |
R65C |
probably benign |
Het |
| Scel |
T |
C |
14: 103,829,420 (GRCm39) |
F405L |
probably benign |
Het |
| Serinc3 |
A |
G |
2: 163,469,799 (GRCm39) |
Y350H |
probably damaging |
Het |
| Slc25a16 |
C |
A |
10: 62,764,102 (GRCm39) |
T53K |
probably damaging |
Het |
| Slco1a1 |
A |
T |
6: 141,870,215 (GRCm39) |
F308I |
possibly damaging |
Het |
| Slitrk5 |
GACTAC |
GACTACTAC |
14: 111,917,248 (GRCm39) |
|
probably benign |
Het |
| Smok3c |
T |
C |
5: 138,063,314 (GRCm39) |
V267A |
probably benign |
Het |
| Ssrp1 |
A |
G |
2: 84,873,158 (GRCm39) |
D473G |
probably benign |
Het |
| Svs6 |
A |
G |
2: 164,159,405 (GRCm39) |
E56G |
possibly damaging |
Het |
| Tas2r130 |
TCATTTC |
T |
6: 131,607,547 (GRCm39) |
|
probably benign |
Het |
| Thoc3 |
T |
C |
13: 54,615,785 (GRCm39) |
N93S |
probably benign |
Het |
| Tle6 |
A |
G |
10: 81,428,600 (GRCm39) |
C443R |
probably damaging |
Het |
| Tmed6 |
A |
G |
8: 107,788,371 (GRCm39) |
F192S |
probably damaging |
Het |
| Tpx2 |
A |
G |
2: 152,718,548 (GRCm39) |
N184D |
probably benign |
Het |
| Vmn2r31 |
T |
A |
7: 7,397,638 (GRCm39) |
N207Y |
probably benign |
Het |
| Zfp267 |
T |
C |
3: 36,220,352 (GRCm39) |
F792L |
probably benign |
Het |
| Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
probably benign |
Het |
| Zfp972 |
A |
T |
2: 177,549,117 (GRCm39) |
|
probably null |
Het |
| Zzef1 |
G |
A |
11: 72,760,631 (GRCm39) |
C1318Y |
possibly 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 |
|
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 |
|
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'- GATCCCCTGAATGTCATTGAGG -3'
(R):5'- CTTGGTGAGCATGAGATGGAC -3'
Sequencing Primer
(F):5'- ATCCCCTGAATGTCATTGAGGTTAGG -3'
(R):5'- AAGAGGATTATGAGTCCTCTGC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation