Incidental Mutation 'R0892:Prorp'
ID |
83542 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prorp
|
Ensembl Gene |
ENSMUSG00000021023 |
Gene Name |
protein only RNase P catalytic subunit |
Synonyms |
Mrpp3, 1110008L16Rik |
MMRRC Submission |
039055-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.513)
|
Stock # |
R0892 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
55349422-55429276 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 55429033 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139123
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021411]
[ENSMUST00000021411]
[ENSMUST00000163070]
[ENSMUST00000183475]
[ENSMUST00000183475]
[ENSMUST00000183654]
[ENSMUST00000183654]
[ENSMUST00000184766]
[ENSMUST00000184766]
[ENSMUST00000184980]
[ENSMUST00000184980]
|
AlphaFold |
Q8JZY4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000021411
|
SMART Domains |
Protein: ENSMUSP00000021411 Gene: ENSMUSG00000021023
Domain | Start | End | E-Value | Type |
Pfam:PRORP
|
339 |
575 |
4.8e-106 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000021411
|
SMART Domains |
Protein: ENSMUSP00000021411 Gene: ENSMUSG00000021023
Domain | Start | End | E-Value | Type |
Pfam:PRORP
|
339 |
575 |
4.8e-106 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000163070
|
SMART Domains |
Protein: ENSMUSP00000124781 Gene: ENSMUSG00000021024
Domain | Start | End | E-Value | Type |
Pfam:Proteasome
|
13 |
201 |
1.5e-56 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000183475
|
SMART Domains |
Protein: ENSMUSP00000139252 Gene: ENSMUSG00000021023
Domain | Start | End | E-Value | Type |
low complexity region
|
410 |
424 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000183475
|
SMART Domains |
Protein: ENSMUSP00000139252 Gene: ENSMUSG00000021023
Domain | Start | End | E-Value | Type |
low complexity region
|
410 |
424 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000183654
|
SMART Domains |
Protein: ENSMUSP00000138821 Gene: ENSMUSG00000021023
Domain | Start | End | E-Value | Type |
Pfam:RNase_Zc3h12a
|
33 |
185 |
8e-7 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000183654
|
SMART Domains |
Protein: ENSMUSP00000138821 Gene: ENSMUSG00000021023
Domain | Start | End | E-Value | Type |
Pfam:RNase_Zc3h12a
|
33 |
185 |
8e-7 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000184766
|
SMART Domains |
Protein: ENSMUSP00000139204 Gene: ENSMUSG00000021023
Domain | Start | End | E-Value | Type |
PDB:4G26|A
|
153 |
581 |
1e-9 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000184766
|
SMART Domains |
Protein: ENSMUSP00000139204 Gene: ENSMUSG00000021023
Domain | Start | End | E-Value | Type |
PDB:4G26|A
|
153 |
581 |
1e-9 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000184980
|
SMART Domains |
Protein: ENSMUSP00000139123 Gene: ENSMUSG00000021023
Domain | Start | End | E-Value | Type |
low complexity region
|
113 |
127 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000184980
|
SMART Domains |
Protein: ENSMUSP00000139123 Gene: ENSMUSG00000021023
Domain | Start | End | E-Value | Type |
low complexity region
|
113 |
127 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,248,305 (GRCm39) |
V2684E |
probably benign |
Het |
Ankub1 |
T |
C |
3: 57,597,800 (GRCm39) |
R57G |
probably benign |
Het |
Bcr |
C |
T |
10: 74,960,895 (GRCm39) |
A442V |
probably benign |
Het |
Cd46 |
T |
C |
1: 194,764,920 (GRCm39) |
T226A |
possibly damaging |
Het |
Dmkn |
C |
T |
7: 30,466,829 (GRCm39) |
R114C |
probably damaging |
Het |
Ell2 |
A |
T |
13: 75,911,758 (GRCm39) |
N348I |
probably damaging |
Het |
Epg5 |
T |
A |
18: 78,011,843 (GRCm39) |
I830N |
possibly damaging |
Het |
Gm15737 |
C |
T |
6: 92,856,721 (GRCm39) |
|
probably benign |
Het |
Gpa33 |
A |
G |
1: 165,985,211 (GRCm39) |
N182S |
probably damaging |
Het |
Gpr37 |
A |
T |
6: 25,688,206 (GRCm39) |
I297N |
probably damaging |
Het |
Hpse2 |
T |
C |
19: 43,376,585 (GRCm39) |
K56E |
probably benign |
Het |
Lamc1 |
G |
A |
1: 153,208,000 (GRCm39) |
H96Y |
possibly damaging |
Het |
Mapre2 |
A |
G |
18: 23,991,200 (GRCm39) |
N189S |
probably benign |
Het |
Msmo1 |
T |
A |
8: 65,175,587 (GRCm39) |
I148F |
possibly damaging |
Het |
Myh6 |
T |
C |
14: 55,184,511 (GRCm39) |
T1607A |
probably benign |
Het |
Oog2 |
A |
T |
4: 143,923,069 (GRCm39) |
T445S |
probably benign |
Het |
Or5b122 |
T |
A |
19: 13,562,881 (GRCm39) |
V28D |
probably damaging |
Het |
Plag1 |
G |
A |
4: 3,904,532 (GRCm39) |
Q220* |
probably null |
Het |
Pom121l2 |
A |
G |
13: 22,166,644 (GRCm39) |
E305G |
possibly damaging |
Het |
Sbsn |
A |
T |
7: 30,454,244 (GRCm39) |
Q50L |
possibly damaging |
Het |
Slc25a42 |
A |
G |
8: 70,644,597 (GRCm39) |
L34P |
probably damaging |
Het |
Sptbn1 |
C |
A |
11: 30,092,201 (GRCm39) |
R521S |
probably damaging |
Het |
St14 |
A |
T |
9: 31,011,724 (GRCm39) |
V394E |
probably benign |
Het |
Tatdn3 |
T |
C |
1: 190,795,002 (GRCm39) |
D18G |
probably benign |
Het |
Trappc8 |
A |
G |
18: 20,964,665 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Prorp |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01701:Prorp
|
APN |
12 |
55,355,660 (GRCm39) |
splice site |
probably benign |
|
IGL01932:Prorp
|
APN |
12 |
55,350,910 (GRCm39) |
missense |
probably benign |
|
IGL03030:Prorp
|
APN |
12 |
55,351,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R0102:Prorp
|
UTSW |
12 |
55,429,082 (GRCm39) |
missense |
probably benign |
0.37 |
R1479:Prorp
|
UTSW |
12 |
55,426,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R1510:Prorp
|
UTSW |
12 |
55,350,997 (GRCm39) |
missense |
probably benign |
0.21 |
R1845:Prorp
|
UTSW |
12 |
55,351,117 (GRCm39) |
missense |
possibly damaging |
0.58 |
R1992:Prorp
|
UTSW |
12 |
55,384,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R2307:Prorp
|
UTSW |
12 |
55,351,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R4080:Prorp
|
UTSW |
12 |
55,351,398 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4081:Prorp
|
UTSW |
12 |
55,351,398 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4082:Prorp
|
UTSW |
12 |
55,351,398 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5205:Prorp
|
UTSW |
12 |
55,351,226 (GRCm39) |
nonsense |
probably null |
|
R5590:Prorp
|
UTSW |
12 |
55,351,257 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5940:Prorp
|
UTSW |
12 |
55,351,659 (GRCm39) |
missense |
probably damaging |
1.00 |
R5988:Prorp
|
UTSW |
12 |
55,424,002 (GRCm39) |
missense |
probably damaging |
1.00 |
R6147:Prorp
|
UTSW |
12 |
55,426,093 (GRCm39) |
missense |
probably damaging |
0.99 |
R7208:Prorp
|
UTSW |
12 |
55,355,430 (GRCm39) |
splice site |
probably null |
|
R7220:Prorp
|
UTSW |
12 |
55,351,200 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7304:Prorp
|
UTSW |
12 |
55,351,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R7316:Prorp
|
UTSW |
12 |
55,351,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R7502:Prorp
|
UTSW |
12 |
55,351,206 (GRCm39) |
missense |
probably damaging |
1.00 |
R7908:Prorp
|
UTSW |
12 |
55,426,250 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7967:Prorp
|
UTSW |
12 |
55,350,979 (GRCm39) |
missense |
probably benign |
|
R9030:Prorp
|
UTSW |
12 |
55,426,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R9125:Prorp
|
UTSW |
12 |
55,355,611 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9135:Prorp
|
UTSW |
12 |
55,426,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R9136:Prorp
|
UTSW |
12 |
55,350,727 (GRCm39) |
missense |
probably benign |
|
R9321:Prorp
|
UTSW |
12 |
55,351,434 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9456:Prorp
|
UTSW |
12 |
55,385,015 (GRCm39) |
missense |
probably damaging |
1.00 |
R9621:Prorp
|
UTSW |
12 |
55,429,042 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGCACAGCGAAACAATCCTGTAACTTAT -3'
(R):5'- CCAGGAGGCCATGCGACTCA -3'
Sequencing Primer
(F):5'- tgtggaaatggtaggaaaggg -3'
(R):5'- ATGCGACTCAGCAGGGG -3'
|
Posted On |
2013-11-08 |