Incidental Mutation 'R7268:Lnpep'
| ID |
565109 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lnpep
|
| Ensembl Gene |
ENSMUSG00000023845 |
| Gene Name |
leucyl/cystinyl aminopeptidase |
| Synonyms |
IRAP, 4732490P18Rik, 2010309L07Rik, gp160, vp165 |
| MMRRC Submission |
045319-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7268 (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 17758803 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 847
(M847K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041047]
|
| AlphaFold |
Q8C129 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041047
AA Change: M847K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000036998
Gene: ENSMUSG00000023845
AA Change: M847K
| 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: 98.7%
|
| Validation Efficiency |
99% (72/73) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
T |
C |
1: 156,461,509 (GRCm39) |
|
probably null |
Het |
| Acsf3 |
A |
G |
8: 123,517,401 (GRCm39) |
Y399C |
probably benign |
Het |
| Acsm5 |
A |
T |
7: 119,136,511 (GRCm39) |
T361S |
probably benign |
Het |
| Agap1 |
T |
G |
1: 89,694,070 (GRCm39) |
I456S |
probably benign |
Het |
| Ahnak2 |
A |
T |
12: 112,780,802 (GRCm38) |
V70E |
|
Het |
| Alb |
T |
A |
5: 90,610,575 (GRCm39) |
S52T |
probably benign |
Het |
| Ankle1 |
A |
G |
8: 71,860,189 (GRCm39) |
T256A |
probably damaging |
Het |
| Armt1 |
G |
A |
10: 4,400,855 (GRCm39) |
V201M |
possibly damaging |
Het |
| Atp2a2 |
T |
C |
5: 122,605,792 (GRCm39) |
T388A |
probably benign |
Het |
| Atp6v0a2 |
T |
C |
5: 124,796,930 (GRCm39) |
L770P |
probably damaging |
Het |
| B4galnt3 |
A |
T |
6: 120,192,003 (GRCm39) |
W578R |
possibly damaging |
Het |
| Babam2 |
T |
C |
5: 31,859,197 (GRCm39) |
S2P |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,960,090 (GRCm39) |
H1459R |
possibly damaging |
Het |
| Bbs7 |
C |
T |
3: 36,658,575 (GRCm39) |
R233Q |
probably benign |
Het |
| Cacna2d1 |
G |
A |
5: 16,575,586 (GRCm39) |
G1076R |
probably damaging |
Het |
| Camsap2 |
C |
T |
1: 136,201,483 (GRCm39) |
|
probably null |
Het |
| Car10 |
A |
G |
11: 93,490,077 (GRCm39) |
N273D |
probably benign |
Het |
| Ccdc66 |
T |
C |
14: 27,208,880 (GRCm39) |
D458G |
probably benign |
Het |
| Ccdc7a |
T |
A |
8: 129,607,633 (GRCm39) |
H982L |
possibly damaging |
Het |
| Col9a1 |
A |
G |
1: 24,246,479 (GRCm39) |
K386E |
possibly damaging |
Het |
| Ctcfl |
A |
G |
2: 172,949,588 (GRCm39) |
I415T |
probably benign |
Het |
| Cyp3a16 |
G |
C |
5: 145,404,280 (GRCm39) |
Y54* |
probably null |
Het |
| Dact2 |
T |
C |
17: 14,416,797 (GRCm39) |
T468A |
probably benign |
Het |
| Dgkb |
T |
A |
12: 38,197,554 (GRCm39) |
L355* |
probably null |
Het |
| Dhx40 |
A |
T |
11: 86,697,442 (GRCm39) |
C42S |
possibly damaging |
Het |
| Dnaaf9 |
C |
A |
2: 130,648,708 (GRCm39) |
R258L |
unknown |
Het |
| Dop1a |
G |
T |
9: 86,394,830 (GRCm39) |
E637* |
probably null |
Het |
| Dpp4 |
G |
T |
2: 62,178,186 (GRCm39) |
P649T |
probably damaging |
Het |
| Eri3 |
T |
A |
4: 117,506,580 (GRCm39) |
I303K |
probably benign |
Het |
| Foxi1 |
A |
T |
11: 34,155,783 (GRCm39) |
Y282* |
probably null |
Het |
| Gdi2 |
T |
A |
13: 3,606,363 (GRCm39) |
Y146* |
probably null |
Het |
| Gns |
A |
G |
10: 121,212,557 (GRCm39) |
Y173C |
probably damaging |
Het |
| Gpc1 |
C |
A |
1: 92,786,093 (GRCm39) |
P494Q |
possibly damaging |
Het |
| Habp2 |
G |
T |
19: 56,302,518 (GRCm39) |
G274V |
probably damaging |
Het |
| Hcfc2 |
T |
A |
10: 82,544,846 (GRCm39) |
Y159* |
probably null |
Het |
| Hmcn2 |
T |
A |
2: 31,347,978 (GRCm39) |
S4875T |
possibly damaging |
Het |
| Hmgcs2 |
A |
G |
3: 98,204,796 (GRCm39) |
N318S |
probably benign |
Het |
| Mmp16 |
A |
C |
4: 18,093,366 (GRCm39) |
M374L |
probably benign |
Het |
| Mrpl38 |
A |
G |
11: 116,029,396 (GRCm39) |
I40T |
possibly damaging |
Het |
| Ncstn |
T |
C |
1: 171,908,830 (GRCm39) |
T46A |
possibly damaging |
Het |
| Nlrp1a |
C |
T |
11: 71,015,068 (GRCm39) |
V61I |
probably benign |
Het |
| Npas2 |
G |
T |
1: 39,326,658 (GRCm39) |
V48L |
probably damaging |
Het |
| Or13p5 |
A |
G |
4: 118,592,605 (GRCm39) |
Y293C |
probably damaging |
Het |
| Or52ac1 |
G |
A |
7: 104,246,284 (GRCm39) |
L35F |
probably benign |
Het |
| Or6c6 |
C |
T |
10: 129,187,263 (GRCm39) |
T277I |
possibly damaging |
Het |
| Pcyox1 |
A |
T |
6: 86,368,713 (GRCm39) |
N268K |
possibly damaging |
Het |
| Pramel14 |
A |
T |
4: 143,720,090 (GRCm39) |
|
probably null |
Het |
| Prr27 |
T |
C |
5: 87,991,135 (GRCm39) |
L249P |
probably damaging |
Het |
| Psat1 |
A |
T |
19: 15,894,508 (GRCm39) |
V168D |
probably damaging |
Het |
| Psg17 |
G |
T |
7: 18,548,586 (GRCm39) |
T395K |
possibly damaging |
Het |
| Ptgis |
A |
G |
2: 167,048,676 (GRCm39) |
Y447H |
probably benign |
Het |
| Rad50 |
T |
A |
11: 53,575,102 (GRCm39) |
N607I |
probably benign |
Het |
| Rps6ka2 |
T |
C |
17: 7,562,662 (GRCm39) |
Y602H |
possibly damaging |
Het |
| Senp6 |
G |
A |
9: 80,049,406 (GRCm39) |
R1010H |
probably damaging |
Het |
| Slc8a3 |
C |
A |
12: 81,361,827 (GRCm39) |
D331Y |
probably damaging |
Het |
| Slc9c1 |
G |
A |
16: 45,370,479 (GRCm39) |
S240N |
probably damaging |
Het |
| Slf1 |
A |
G |
13: 77,214,826 (GRCm39) |
L620P |
probably damaging |
Het |
| Snx19 |
A |
G |
9: 30,351,473 (GRCm39) |
E847G |
probably damaging |
Het |
| Spaca6 |
T |
C |
17: 18,052,369 (GRCm39) |
V103A |
probably benign |
Het |
| Tbk1 |
A |
G |
10: 121,388,404 (GRCm39) |
Y591H |
probably benign |
Het |
| Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
| Tfap2a |
G |
A |
13: 40,882,236 (GRCm39) |
T15I |
possibly damaging |
Het |
| Tgm2 |
G |
A |
2: 157,962,188 (GRCm39) |
R544* |
probably null |
Het |
| Tmem116 |
T |
A |
5: 121,605,918 (GRCm39) |
I90K |
|
Het |
| Tmem30c |
A |
C |
16: 57,086,777 (GRCm39) |
L342R |
probably damaging |
Het |
| Trpm6 |
C |
T |
19: 18,755,949 (GRCm39) |
T64I |
probably benign |
Het |
| Ttll8 |
A |
G |
15: 88,819,159 (GRCm39) |
|
probably null |
Het |
| Vcpip1 |
A |
G |
1: 9,816,307 (GRCm39) |
I692T |
probably damaging |
Het |
| Vmn1r169 |
T |
G |
7: 23,276,853 (GRCm39) |
F82V |
probably benign |
Het |
| Vmn1r178 |
G |
A |
7: 23,593,378 (GRCm39) |
C142Y |
probably benign |
Het |
| Vmn2r16 |
T |
A |
5: 109,488,331 (GRCm39) |
Y401* |
probably null |
Het |
| Wdr91 |
A |
G |
6: 34,869,375 (GRCm39) |
V383A |
probably benign |
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 |
|
|
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'- TCTAGTATCCATACACATGTGAACT -3'
(R):5'- CAATTATATTTCATGTCTGTAGGCCAG -3'
Sequencing Primer
(F):5'- cagatctacaagagctaaca -3'
(R):5'- GTAGGCCAGAGTACATAAATTGCTCC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation