Incidental Mutation 'R7749:Npepps'
| ID |
597104 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Npepps
|
| Ensembl Gene |
ENSMUSG00000001441 |
| Gene Name |
aminopeptidase puromycin sensitive |
| Synonyms |
Psa, MP100 |
| MMRRC Submission |
045805-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.870)
|
| Stock # |
R7749 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
97096668-97171464 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 97158454 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 104
(I104L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001480]
[ENSMUST00000154372]
[ENSMUST00000154917]
[ENSMUST00000167806]
[ENSMUST00000172108]
|
| AlphaFold |
Q11011 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001480
AA Change: I104L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000001480
Gene: ENSMUSG00000001441
AA Change: I104L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
45 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M1
|
54 |
442 |
5.2e-155 |
PFAM |
|
Pfam:ERAP1_C
|
579 |
892 |
7.9e-72 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152546
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154372
AA Change: I2L
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000154917
AA Change: I104L
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000127631
Gene: ENSMUSG00000001441
AA Change: I104L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
45 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M1
|
54 |
116 |
2e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165216
AA Change: I95L
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000128169
Gene: ENSMUSG00000001441
AA Change: I95L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
35 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M1
|
46 |
183 |
1.6e-28 |
PFAM |
|
Pfam:Peptidase_M1
|
174 |
398 |
2.9e-100 |
PFAM |
|
Pfam:ERAP1_C
|
535 |
848 |
2.9e-71 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167806
AA Change: I104L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000130445
Gene: ENSMUSG00000001441
AA Change: I104L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
45 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M1
|
54 |
442 |
3e-153 |
PFAM |
|
Pfam:Peptidase_MA_2
|
321 |
465 |
7.4e-24 |
PFAM |
|
Pfam:ERAP1_C
|
579 |
632 |
5.6e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168743
AA Change: I87L
PolyPhen 2
Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000127127
Gene: ENSMUSG00000001441
AA Change: I87L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M1
|
38 |
247 |
4.4e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172108
AA Change: I104L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000127801
Gene: ENSMUSG00000001441
AA Change: I104L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
45 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M1
|
54 |
442 |
6e-153 |
PFAM |
|
Pfam:Peptidase_MA_2
|
321 |
465 |
1.2e-23 |
PFAM |
|
Pfam:ERAP1_C
|
579 |
859 |
5.7e-55 |
PFAM |
|
low complexity region
|
868 |
886 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
99% (66/67) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the puromycin-sensitive aminopeptidase, a zinc metallopeptidase which hydrolyzes amino acids from the N-terminus of its substrate. The protein has been localized to both the cytoplasm and to cellular membranes. This enzyme degrades enkaphalins in the brain, and studies in mouse suggest that it is involved in proteolytic events regulating the cell cycle. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a gene-trapped mutation exhibit dwarfism, increased anxiety, decreased pain sensitivity, and infertility in both sexes. Females fail to produce the corpus luteum of pregnancy, while males fail to copulate and have impaired spermatogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr1a |
A |
T |
19: 46,368,186 (GRCm39) |
S254T |
probably benign |
Het |
| Adam12 |
G |
A |
7: 133,826,542 (GRCm39) |
A22V |
unknown |
Het |
| Adarb2 |
A |
G |
13: 8,619,775 (GRCm39) |
D87G |
possibly damaging |
Het |
| Aldh6a1 |
A |
T |
12: 84,488,855 (GRCm39) |
I59N |
probably benign |
Het |
| Ankrd50 |
C |
T |
3: 38,536,870 (GRCm39) |
C161Y |
probably damaging |
Het |
| Ankrd7 |
A |
G |
6: 18,879,515 (GRCm39) |
|
probably null |
Het |
| Anks1 |
T |
A |
17: 28,257,115 (GRCm39) |
I707N |
probably damaging |
Het |
| Atoh1 |
A |
T |
6: 64,706,904 (GRCm39) |
M200L |
possibly damaging |
Het |
| Bmp1 |
C |
T |
14: 70,730,284 (GRCm39) |
R416H |
probably damaging |
Het |
| Caprin1 |
A |
G |
2: 103,602,099 (GRCm39) |
S548P |
probably benign |
Het |
| Ccdc167 |
T |
A |
17: 29,924,247 (GRCm39) |
Y63F |
possibly damaging |
Het |
| Cfap99 |
T |
A |
5: 34,465,284 (GRCm39) |
D174E |
probably benign |
Het |
| Chil3 |
T |
G |
3: 106,056,161 (GRCm39) |
N331T |
probably benign |
Het |
| Chmp5 |
T |
A |
4: 40,949,488 (GRCm39) |
I35N |
probably damaging |
Het |
| Cpt1c |
A |
T |
7: 44,611,689 (GRCm39) |
S537T |
probably benign |
Het |
| Dctn1 |
A |
T |
6: 83,163,123 (GRCm39) |
|
probably benign |
Het |
| Dhx57 |
T |
A |
17: 80,546,287 (GRCm39) |
M1366L |
probably benign |
Het |
| Dnah9 |
T |
A |
11: 65,802,656 (GRCm39) |
Y3478F |
probably damaging |
Het |
| Efna3 |
A |
G |
3: 89,223,947 (GRCm39) |
Y81H |
probably damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,192,608 (GRCm39) |
V812A |
probably damaging |
Het |
| Erg |
A |
T |
16: 95,178,216 (GRCm39) |
I237N |
probably benign |
Het |
| Fem1c |
G |
T |
18: 46,657,185 (GRCm39) |
N176K |
probably damaging |
Het |
| Fgd4 |
T |
C |
16: 16,293,018 (GRCm39) |
Y233C |
probably benign |
Het |
| Foxd2 |
G |
A |
4: 114,765,009 (GRCm39) |
A337V |
unknown |
Het |
| Gsdma2 |
T |
C |
11: 98,548,547 (GRCm39) |
L433P |
unknown |
Het |
| Hmcn2 |
C |
A |
2: 31,343,045 (GRCm39) |
|
probably null |
Het |
| Hnrnpul2 |
T |
C |
19: 8,797,788 (GRCm39) |
V48A |
probably benign |
Het |
| Hsf1 |
T |
A |
15: 76,383,387 (GRCm39) |
S396T |
probably benign |
Het |
| Htr5b |
G |
T |
1: 121,455,487 (GRCm39) |
N144K |
probably damaging |
Het |
| Igkv9-120 |
T |
C |
6: 68,027,172 (GRCm39) |
S29P |
probably damaging |
Het |
| Igsf10 |
T |
A |
3: 59,236,549 (GRCm39) |
N1211Y |
possibly damaging |
Het |
| Kcnh1 |
A |
C |
1: 191,959,447 (GRCm39) |
I334L |
probably benign |
Het |
| Laptm4b |
T |
C |
15: 34,276,346 (GRCm39) |
I158T |
probably benign |
Het |
| Mgat4f |
A |
T |
1: 134,318,250 (GRCm39) |
M341L |
probably benign |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Nav3 |
T |
C |
10: 109,539,213 (GRCm39) |
T2063A |
probably damaging |
Het |
| Nceh1 |
T |
A |
3: 27,261,531 (GRCm39) |
D47E |
probably benign |
Het |
| Nckap5 |
A |
G |
1: 125,952,383 (GRCm39) |
S1390P |
probably damaging |
Het |
| Numb |
A |
G |
12: 83,848,051 (GRCm39) |
S229P |
not run |
Het |
| Opn1sw |
T |
A |
6: 29,380,168 (GRCm39) |
I83F |
probably benign |
Het |
| Or13p4 |
T |
C |
4: 118,547,425 (GRCm39) |
S75G |
probably damaging |
Het |
| Or5b95 |
A |
T |
19: 12,657,576 (GRCm39) |
I35F |
probably benign |
Het |
| Or5l13 |
G |
A |
2: 87,779,822 (GRCm39) |
H252Y |
probably damaging |
Het |
| Pigg |
T |
G |
5: 108,484,162 (GRCm39) |
C603G |
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
C |
A |
15: 44,391,133 (GRCm39) |
H1504N |
probably benign |
Het |
| Plcd4 |
A |
G |
1: 74,604,292 (GRCm39) |
N757D |
possibly damaging |
Het |
| Ppia |
A |
G |
11: 6,369,569 (GRCm39) |
T152A |
probably benign |
Het |
| Psmd8 |
G |
A |
7: 28,878,346 (GRCm39) |
|
probably null |
Het |
| Pxn |
T |
A |
5: 115,686,575 (GRCm39) |
Y356N |
probably benign |
Het |
| Rhoa |
G |
C |
9: 108,213,914 (GRCm39) |
C159S |
probably damaging |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Rita1 |
C |
T |
5: 120,749,506 (GRCm39) |
C69Y |
probably benign |
Het |
| Satb1 |
A |
G |
17: 52,074,961 (GRCm39) |
S512P |
possibly damaging |
Het |
| Sectm1b |
A |
G |
11: 120,945,768 (GRCm39) |
I191T |
possibly damaging |
Het |
| Slc22a6 |
A |
G |
19: 8,599,260 (GRCm39) |
K297R |
possibly damaging |
Het |
| Snrnp48 |
T |
C |
13: 38,405,263 (GRCm39) |
Y287H |
probably benign |
Het |
| Sntg2 |
A |
T |
12: 30,276,910 (GRCm39) |
C381S |
probably benign |
Het |
| Syngap1 |
T |
A |
17: 27,178,938 (GRCm39) |
M649K |
probably damaging |
Het |
| Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
| Thap2 |
T |
C |
10: 115,212,289 (GRCm39) |
I79V |
probably damaging |
Het |
| Thap7 |
T |
C |
16: 17,346,467 (GRCm39) |
N172S |
probably benign |
Het |
| Ticrr |
A |
G |
7: 79,328,844 (GRCm39) |
Y661C |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,606,659 (GRCm39) |
N18084D |
probably damaging |
Het |
| Usp48 |
A |
T |
4: 137,377,728 (GRCm39) |
K1020M |
probably damaging |
Het |
| Vmn2r12 |
T |
C |
5: 109,233,920 (GRCm39) |
N764S |
probably damaging |
Het |
| Vmn2r91 |
A |
G |
17: 18,356,540 (GRCm39) |
I736V |
possibly damaging |
Het |
| Wfdc6b |
T |
A |
2: 164,459,339 (GRCm39) |
C134S |
probably damaging |
Het |
| Zcchc2 |
A |
T |
1: 105,946,003 (GRCm39) |
D481V |
probably damaging |
Het |
| Zfp949 |
G |
A |
9: 88,451,923 (GRCm39) |
G498R |
probably damaging |
Het |
|
| Other mutations in Npepps |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00826:Npepps
|
APN |
11 |
97,126,884 (GRCm39) |
splice site |
probably benign |
|
|
IGL00904:Npepps
|
APN |
11 |
97,149,132 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00925:Npepps
|
APN |
11 |
97,171,109 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01074:Npepps
|
APN |
11 |
97,108,637 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01869:Npepps
|
APN |
11 |
97,126,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01879:Npepps
|
APN |
11 |
97,149,166 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02145:Npepps
|
APN |
11 |
97,109,328 (GRCm39) |
splice site |
probably null |
|
|
IGL02493:Npepps
|
APN |
11 |
97,128,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02561:Npepps
|
APN |
11 |
97,120,675 (GRCm39) |
nonsense |
probably null |
|
|
IGL02957:Npepps
|
APN |
11 |
97,133,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03008:Npepps
|
APN |
11 |
97,128,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
disadvantaged
|
UTSW |
11 |
97,149,099 (GRCm39) |
critical splice donor site |
probably null |
|
|
put_upon
|
UTSW |
11 |
97,139,026 (GRCm39) |
critical splice donor site |
probably null |
|
|
Underprivileged
|
UTSW |
11 |
97,158,470 (GRCm39) |
nonsense |
probably null |
|
|
IGL03054:Npepps
|
UTSW |
11 |
97,132,614 (GRCm39) |
intron |
probably benign |
|
|
R0280:Npepps
|
UTSW |
11 |
97,131,840 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0743:Npepps
|
UTSW |
11 |
97,096,884 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0838:Npepps
|
UTSW |
11 |
97,158,518 (GRCm39) |
splice site |
probably benign |
|
|
R1449:Npepps
|
UTSW |
11 |
97,097,980 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1478:Npepps
|
UTSW |
11 |
97,117,673 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1502:Npepps
|
UTSW |
11 |
97,109,401 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1726:Npepps
|
UTSW |
11 |
97,115,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2413:Npepps
|
UTSW |
11 |
97,131,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3619:Npepps
|
UTSW |
11 |
97,139,091 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4620:Npepps
|
UTSW |
11 |
97,129,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4782:Npepps
|
UTSW |
11 |
97,117,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4810:Npepps
|
UTSW |
11 |
97,131,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4998:Npepps
|
UTSW |
11 |
97,096,933 (GRCm39) |
intron |
probably benign |
|
|
R5086:Npepps
|
UTSW |
11 |
97,108,625 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5289:Npepps
|
UTSW |
11 |
97,131,753 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5740:Npepps
|
UTSW |
11 |
97,126,894 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6004:Npepps
|
UTSW |
11 |
97,113,950 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6181:Npepps
|
UTSW |
11 |
97,132,830 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6213:Npepps
|
UTSW |
11 |
97,132,823 (GRCm39) |
nonsense |
probably null |
|
|
R6244:Npepps
|
UTSW |
11 |
97,104,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6318:Npepps
|
UTSW |
11 |
97,109,374 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6478:Npepps
|
UTSW |
11 |
97,149,099 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6724:Npepps
|
UTSW |
11 |
97,096,828 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6890:Npepps
|
UTSW |
11 |
97,158,470 (GRCm39) |
nonsense |
probably null |
|
|
R7035:Npepps
|
UTSW |
11 |
97,113,965 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7426:Npepps
|
UTSW |
11 |
97,103,982 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7819:Npepps
|
UTSW |
11 |
97,139,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7885:Npepps
|
UTSW |
11 |
97,109,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8142:Npepps
|
UTSW |
11 |
97,109,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8176:Npepps
|
UTSW |
11 |
97,126,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8237:Npepps
|
UTSW |
11 |
97,139,026 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8355:Npepps
|
UTSW |
11 |
97,132,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8360:Npepps
|
UTSW |
11 |
97,120,665 (GRCm39) |
missense |
probably benign |
|
|
R8455:Npepps
|
UTSW |
11 |
97,132,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8465:Npepps
|
UTSW |
11 |
97,139,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8508:Npepps
|
UTSW |
11 |
97,135,252 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8828:Npepps
|
UTSW |
11 |
97,131,823 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9011:Npepps
|
UTSW |
11 |
97,131,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9210:Npepps
|
UTSW |
11 |
97,129,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9212:Npepps
|
UTSW |
11 |
97,129,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9593:Npepps
|
UTSW |
11 |
97,149,179 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9614:Npepps
|
UTSW |
11 |
97,149,177 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9772:Npepps
|
UTSW |
11 |
97,113,983 (GRCm39) |
missense |
probably benign |
0.13 |
|
X0021:Npepps
|
UTSW |
11 |
97,128,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAGGTTCAAGGTGGTGAG -3'
(R):5'- TGGCCAGGCTATCTGTCTACTC -3'
Sequencing Primer
(F):5'- GAAGAATACAGTCCTCTTGCCTCAG -3'
(R):5'- CTGTCTACTCCCCAATATAAA -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation