Incidental Mutation 'R2307:Mep1b'
| ID |
244661 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mep1b
|
| Ensembl Gene |
ENSMUSG00000024313 |
| Gene Name |
meprin 1 beta |
| Synonyms |
Mep-1b, meprin beta |
| MMRRC Submission |
040306-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R2307 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
21205401-21233256 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21221632 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 194
(D194V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080866
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082235]
|
| AlphaFold |
Q61847 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000082235
AA Change: D194V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000080866
Gene: ENSMUSG00000024313
AA Change: D194V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
42 |
N/A |
INTRINSIC |
|
ZnMc
|
68 |
208 |
1.23e-54 |
SMART |
|
MAM
|
261 |
430 |
1.91e-52 |
SMART |
|
MATH
|
433 |
569 |
4.88e-8 |
SMART |
|
EGF
|
610 |
647 |
2.35e-2 |
SMART |
|
transmembrane domain
|
658 |
680 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Meprins are multidomain zinc metalloproteases that are highly expressed in mammalian kidney and intestinal brush border membranes, and in leukocytes and certain cancer cells. They are involved in the hydrolysis of a variety of peptide and protein substrates, and have been implicated in cancer and intestinal inflammation. Mature meprins are oligomers of evolutionarily related, but separately encoded alpha and/or beta subunits. Homooligomers of alpha subunit are secreted, whereas, oligomers containing the beta subunit are plasma membrane-bound. This gene encodes the beta subunit. Targeted disruption of this gene in mice affects embryonic viability, renal gene expression profiles, and distribution of the membrane-associated alpha subunit in kidney and intestine. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit 50% prenatal lethality; survivors have reduced birth weight and show altered renal gene expression, but otherwise are apparently normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot5 |
T |
C |
12: 84,122,375 (GRCm39) |
F320L |
possibly damaging |
Het |
| Alox12e |
T |
C |
11: 70,212,087 (GRCm39) |
K170R |
probably damaging |
Het |
| Ano2 |
T |
C |
6: 125,969,849 (GRCm39) |
S722P |
probably benign |
Het |
| Cep192 |
A |
G |
18: 67,946,970 (GRCm39) |
Y215C |
probably benign |
Het |
| Ces2g |
A |
G |
8: 105,695,044 (GRCm39) |
N555S |
probably benign |
Het |
| Cfap58 |
C |
T |
19: 47,950,925 (GRCm39) |
Q429* |
probably null |
Het |
| Clcnkb |
A |
G |
4: 141,139,640 (GRCm39) |
S121P |
probably damaging |
Het |
| Cltb |
T |
A |
13: 54,746,564 (GRCm39) |
E67D |
probably damaging |
Het |
| Ddhd1 |
A |
T |
14: 45,846,447 (GRCm39) |
L581Q |
probably damaging |
Het |
| Dnajc3 |
T |
C |
14: 119,190,633 (GRCm39) |
|
probably null |
Het |
| Fgf14 |
T |
A |
14: 124,221,234 (GRCm39) |
N190I |
probably damaging |
Het |
| Galnt17 |
T |
G |
5: 130,929,460 (GRCm39) |
Y449S |
probably damaging |
Het |
| Grin3a |
C |
T |
4: 49,793,033 (GRCm39) |
|
probably null |
Het |
| Gxylt2 |
A |
G |
6: 100,764,173 (GRCm39) |
N286S |
probably damaging |
Het |
| H2-K2 |
A |
G |
17: 34,216,113 (GRCm39) |
V120A |
probably benign |
Het |
| Inpp5f |
T |
C |
7: 128,296,034 (GRCm39) |
V168A |
probably damaging |
Het |
| Kif1a |
G |
T |
1: 93,006,491 (GRCm39) |
H59N |
probably damaging |
Het |
| Krt24 |
T |
C |
11: 99,175,456 (GRCm39) |
Q193R |
possibly damaging |
Het |
| Krtap5-4 |
C |
A |
7: 141,857,351 (GRCm39) |
S7* |
probably null |
Het |
| Ltn1 |
A |
G |
16: 87,229,312 (GRCm39) |
|
probably null |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Mettl25b |
A |
T |
3: 87,834,162 (GRCm39) |
M171K |
possibly damaging |
Het |
| Orc3 |
C |
T |
4: 34,586,503 (GRCm39) |
V382M |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,728,665 (GRCm39) |
|
probably benign |
Het |
| Pcolce |
T |
C |
5: 137,607,356 (GRCm39) |
H45R |
probably damaging |
Het |
| Prf1 |
T |
C |
10: 61,138,942 (GRCm39) |
V300A |
possibly damaging |
Het |
| Prorp |
T |
C |
12: 55,351,101 (GRCm39) |
F137L |
probably damaging |
Het |
| Prss53 |
T |
C |
7: 127,490,037 (GRCm39) |
I18V |
probably benign |
Het |
| Rnase2b |
A |
G |
14: 51,400,188 (GRCm39) |
T90A |
probably benign |
Het |
| Rpap1 |
G |
A |
2: 119,614,247 (GRCm39) |
P50L |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sec16b |
G |
A |
1: 157,363,062 (GRCm39) |
V298I |
probably damaging |
Het |
| Smarcd3 |
C |
T |
5: 24,800,746 (GRCm39) |
R156Q |
probably damaging |
Het |
| St6galnac2 |
C |
T |
11: 116,572,731 (GRCm39) |
A242T |
probably damaging |
Het |
| Syce1l |
T |
C |
8: 114,369,937 (GRCm39) |
|
probably null |
Het |
| Tcam1 |
T |
C |
11: 106,174,940 (GRCm39) |
C132R |
probably damaging |
Het |
| Trpa1 |
T |
C |
1: 14,982,605 (GRCm39) |
I84V |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,717,342 (GRCm39) |
R455* |
probably null |
Het |
| Ubl5 |
T |
A |
9: 20,557,876 (GRCm39) |
|
probably benign |
Het |
| Ubr2 |
T |
A |
17: 47,277,141 (GRCm39) |
K779* |
probably null |
Het |
| Ugt1a10 |
A |
G |
1: 87,983,669 (GRCm39) |
I156V |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,239,854 (GRCm39) |
T3513A |
probably damaging |
Het |
| Vmn1r20 |
C |
T |
6: 57,409,121 (GRCm39) |
T149I |
probably benign |
Het |
| Zfp804a |
T |
A |
2: 82,087,201 (GRCm39) |
D343E |
probably benign |
Het |
|
| Other mutations in Mep1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00392:Mep1b
|
APN |
18 |
21,217,243 (GRCm39) |
nonsense |
probably null |
|
|
IGL01470:Mep1b
|
APN |
18 |
21,230,524 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL01866:Mep1b
|
APN |
18 |
21,228,050 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02865:Mep1b
|
APN |
18 |
21,226,441 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03093:Mep1b
|
APN |
18 |
21,226,710 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03126:Mep1b
|
APN |
18 |
21,221,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03196:Mep1b
|
APN |
18 |
21,228,121 (GRCm39) |
missense |
probably benign |
0.01 |
|
P0022:Mep1b
|
UTSW |
18 |
21,221,598 (GRCm39) |
splice site |
probably benign |
|
|
R0143:Mep1b
|
UTSW |
18 |
21,228,164 (GRCm39) |
splice site |
probably benign |
|
|
R0743:Mep1b
|
UTSW |
18 |
21,213,515 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0961:Mep1b
|
UTSW |
18 |
21,221,786 (GRCm39) |
nonsense |
probably null |
|
|
R1913:Mep1b
|
UTSW |
18 |
21,226,286 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2162:Mep1b
|
UTSW |
18 |
21,219,296 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3000:Mep1b
|
UTSW |
18 |
21,226,361 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3833:Mep1b
|
UTSW |
18 |
21,219,296 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3862:Mep1b
|
UTSW |
18 |
21,217,226 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R3863:Mep1b
|
UTSW |
18 |
21,217,226 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R3864:Mep1b
|
UTSW |
18 |
21,217,226 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4171:Mep1b
|
UTSW |
18 |
21,228,163 (GRCm39) |
splice site |
probably null |
|
|
R4774:Mep1b
|
UTSW |
18 |
21,219,241 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4798:Mep1b
|
UTSW |
18 |
21,226,311 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5411:Mep1b
|
UTSW |
18 |
21,219,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6952:Mep1b
|
UTSW |
18 |
21,221,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7056:Mep1b
|
UTSW |
18 |
21,224,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7078:Mep1b
|
UTSW |
18 |
21,233,108 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7217:Mep1b
|
UTSW |
18 |
21,226,600 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7641:Mep1b
|
UTSW |
18 |
21,228,034 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7843:Mep1b
|
UTSW |
18 |
21,228,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8103:Mep1b
|
UTSW |
18 |
21,222,442 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8794:Mep1b
|
UTSW |
18 |
21,224,325 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8845:Mep1b
|
UTSW |
18 |
21,230,379 (GRCm39) |
nonsense |
probably null |
|
|
R8877:Mep1b
|
UTSW |
18 |
21,221,630 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8975:Mep1b
|
UTSW |
18 |
21,208,714 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9352:Mep1b
|
UTSW |
18 |
21,209,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9448:Mep1b
|
UTSW |
18 |
21,217,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9782:Mep1b
|
UTSW |
18 |
21,208,720 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACTGCCTGGAAGTGAAGG -3'
(R):5'- TAGCTTCAGAAGGTCATAGTCAC -3'
Sequencing Primer
(F):5'- CTGTGTGTGATATCAGGTTCAAAGAC -3'
(R):5'- GGTCATAGTCACTGAAGTCCATTCG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation