Incidental Mutation 'R9274:Lnpep'
| ID |
703192 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lnpep
|
| Ensembl Gene |
ENSMUSG00000023845 |
| Gene Name |
leucyl/cystinyl aminopeptidase |
| Synonyms |
IRAP, 4732490P18Rik, 2010309L07Rik, gp160, vp165 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9274 (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 17758837 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 836
(T836A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041047]
|
| AlphaFold |
Q8C129 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041047
AA Change: T836A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000036998
Gene: ENSMUSG00000023845
AA Change: T836A
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (65/65) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actc1 |
A |
T |
2: 113,879,752 (GRCm39) |
S236T |
probably benign |
Het |
| Adam30 |
A |
G |
3: 98,069,267 (GRCm39) |
T239A |
probably benign |
Het |
| Aoc1l2 |
T |
C |
6: 48,907,341 (GRCm39) |
F114L |
possibly damaging |
Het |
| Ascl2 |
G |
A |
7: 142,521,753 (GRCm39) |
R232C |
probably damaging |
Het |
| Atp10a |
C |
A |
7: 58,478,369 (GRCm39) |
Q1471K |
probably benign |
Het |
| Avl9 |
T |
A |
6: 56,720,346 (GRCm39) |
D461E |
probably damaging |
Het |
| Baiap3 |
T |
A |
17: 25,463,354 (GRCm39) |
Y983F |
probably damaging |
Het |
| C1rl |
A |
G |
6: 124,485,483 (GRCm39) |
S285G |
probably benign |
Het |
| Cacna1i |
G |
A |
15: 80,254,354 (GRCm39) |
V772M |
probably damaging |
Het |
| Ccser2 |
T |
A |
14: 36,660,737 (GRCm39) |
D472V |
possibly damaging |
Het |
| Cd244a |
T |
G |
1: 171,401,928 (GRCm39) |
V218G |
probably benign |
Het |
| Cdhr1 |
T |
C |
14: 36,802,564 (GRCm39) |
K633R |
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,381,671 (GRCm39) |
Q1748R |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,707,020 (GRCm39) |
Y2638F |
unknown |
Het |
| Crnkl1 |
A |
T |
2: 145,765,836 (GRCm39) |
F411L |
probably damaging |
Het |
| Crp |
T |
A |
1: 172,526,072 (GRCm39) |
F52L |
possibly damaging |
Het |
| Dnah12 |
A |
G |
14: 26,537,374 (GRCm39) |
N2208D |
probably benign |
Het |
| Exd2 |
T |
C |
12: 80,539,674 (GRCm39) |
|
probably null |
Het |
| F13a1 |
A |
T |
13: 37,052,761 (GRCm39) |
I726N |
probably damaging |
Het |
| Fmo6 |
G |
A |
1: 162,747,921 (GRCm39) |
T381I |
probably benign |
Het |
| Gdpd5 |
T |
C |
7: 99,107,989 (GRCm39) |
L522P |
probably damaging |
Het |
| Gm12790 |
T |
A |
4: 101,824,743 (GRCm39) |
D175V |
possibly damaging |
Het |
| Gm3543 |
T |
C |
14: 41,802,125 (GRCm39) |
R120G |
probably damaging |
Het |
| Gpatch2 |
T |
A |
1: 186,963,029 (GRCm39) |
D273E |
probably damaging |
Het |
| Hlcs |
A |
G |
16: 94,088,785 (GRCm39) |
S66P |
possibly damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,506,046 (GRCm39) |
T3827A |
probably benign |
Het |
| Ism2 |
G |
A |
12: 87,331,827 (GRCm39) |
Q237* |
probably null |
Het |
| Jph2 |
G |
A |
2: 163,239,547 (GRCm39) |
|
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,781,723 (GRCm39) |
Q865R |
probably benign |
Het |
| Kcnh6 |
C |
G |
11: 105,924,860 (GRCm39) |
H941Q |
possibly damaging |
Het |
| Kcnk9 |
A |
G |
15: 72,384,224 (GRCm39) |
V318A |
unknown |
Het |
| Lemd3 |
G |
A |
10: 120,814,717 (GRCm39) |
A172V |
possibly damaging |
Het |
| Lifr |
G |
T |
15: 7,217,591 (GRCm39) |
A840S |
probably damaging |
Het |
| Mapk13 |
A |
G |
17: 28,988,490 (GRCm39) |
Y36C |
probably damaging |
Het |
| Mdm2 |
G |
A |
10: 117,541,081 (GRCm39) |
|
probably benign |
Het |
| Msmb |
T |
C |
14: 31,870,130 (GRCm39) |
M34T |
probably benign |
Het |
| Myo5a |
A |
G |
9: 75,097,279 (GRCm39) |
N1319S |
possibly damaging |
Het |
| Myot |
T |
A |
18: 44,479,265 (GRCm39) |
V334E |
probably damaging |
Het |
| Nalcn |
A |
G |
14: 123,753,068 (GRCm39) |
I306T |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nphp4 |
T |
C |
4: 152,640,056 (GRCm39) |
Y981H |
probably benign |
Het |
| Nphs2 |
G |
A |
1: 156,144,416 (GRCm39) |
R140Q |
probably damaging |
Het |
| Nsa2 |
C |
T |
13: 97,272,170 (GRCm39) |
R17H |
probably benign |
Het |
| Nup98 |
C |
A |
7: 101,788,037 (GRCm39) |
R1011L |
probably benign |
Het |
| Obox6 |
T |
C |
7: 15,567,766 (GRCm39) |
H227R |
possibly damaging |
Het |
| Or10ak14 |
G |
A |
4: 118,610,883 (GRCm39) |
A286V |
probably benign |
Het |
| Or1j14 |
T |
C |
2: 36,417,559 (GRCm39) |
I45T |
probably damaging |
Het |
| Or4c1 |
A |
C |
2: 89,133,513 (GRCm39) |
L141R |
probably damaging |
Het |
| P2rx2 |
C |
T |
5: 110,489,709 (GRCm39) |
G202D |
probably damaging |
Het |
| Pcdh12 |
A |
G |
18: 38,415,950 (GRCm39) |
W392R |
probably damaging |
Het |
| Plxna2 |
G |
A |
1: 194,471,136 (GRCm39) |
G969D |
probably damaging |
Het |
| Prg4 |
T |
C |
1: 150,331,924 (GRCm39) |
T250A |
possibly damaging |
Het |
| Rad54l |
G |
T |
4: 115,967,667 (GRCm39) |
P205Q |
probably damaging |
Het |
| Ralgapb |
A |
G |
2: 158,278,539 (GRCm39) |
I334M |
probably damaging |
Het |
| Ric3 |
C |
T |
7: 108,647,212 (GRCm39) |
D204N |
probably damaging |
Het |
| Rnf10 |
A |
T |
5: 115,385,322 (GRCm39) |
Y557* |
probably null |
Het |
| Ruvbl1 |
A |
G |
6: 88,474,334 (GRCm39) |
I446V |
probably benign |
Het |
| Serinc3 |
A |
T |
2: 163,468,371 (GRCm39) |
V361D |
probably damaging |
Het |
| Slc4a1 |
C |
A |
11: 102,242,047 (GRCm39) |
V864L |
probably benign |
Het |
| Slf1 |
C |
A |
13: 77,191,669 (GRCm39) |
*1055L |
probably null |
Het |
| Stk25 |
T |
C |
1: 93,552,806 (GRCm39) |
S328G |
probably benign |
Het |
| Stpg1 |
T |
C |
4: 135,252,782 (GRCm39) |
F178L |
possibly damaging |
Het |
| Tmem25 |
C |
T |
9: 44,706,336 (GRCm39) |
R345H |
probably benign |
Het |
| Tssk1 |
A |
T |
16: 17,712,724 (GRCm39) |
I170L |
probably benign |
Het |
| Tubg1 |
A |
G |
11: 101,017,241 (GRCm39) |
|
probably benign |
Het |
| Uchl3 |
A |
G |
14: 101,903,240 (GRCm39) |
D33G |
probably damaging |
Het |
| Vmn1r152 |
A |
T |
7: 22,223,056 (GRCm39) |
H222L |
probably benign |
Het |
| Zfp975 |
C |
T |
7: 42,312,299 (GRCm39) |
V105I |
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 |
|
|
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 |
|
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'- AGTAGTCCTAATTTCCTGGTTGATTAC -3'
Sequencing Primer
(F):5'- TTCATGGCAGTACTATTTACAAGAAG -3'
(R):5'- CAGCAGACTTGGACAGAT -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation