Incidental Mutation 'IGL01932:Prorp'
ID |
180450 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Prorp
|
Ensembl Gene |
ENSMUSG00000021023 |
Gene Name |
protein only RNase P catalytic subunit |
Synonyms |
Mrpp3, 1110008L16Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.550)
|
Stock # |
IGL01932
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
55349422-55429276 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 55350910 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 73
(N73S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139204
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021410]
[ENSMUST00000021411]
[ENSMUST00000183475]
[ENSMUST00000183654]
[ENSMUST00000184766]
[ENSMUST00000184980]
|
AlphaFold |
Q8JZY4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021410
|
SMART Domains |
Protein: ENSMUSP00000021410 Gene: ENSMUSG00000021022
Domain | Start | End | E-Value | Type |
PDB:4I5K|B
|
188 |
437 |
1e-25 |
PDB |
SCOP:d1dgua_
|
258 |
413 |
4e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000021411
AA Change: N73S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000021411 Gene: ENSMUSG00000021023 AA Change: N73S
Domain | Start | End | E-Value | Type |
Pfam:PRORP
|
339 |
575 |
4.8e-106 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183475
AA Change: N73S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000139252 Gene: ENSMUSG00000021023 AA Change: N73S
Domain | Start | End | E-Value | Type |
low complexity region
|
410 |
424 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183654
|
SMART Domains |
Protein: ENSMUSP00000138821 Gene: ENSMUSG00000021023
Domain | Start | End | E-Value | Type |
Pfam:RNase_Zc3h12a
|
33 |
185 |
8e-7 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184249
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184766
AA Change: N73S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000139204 Gene: ENSMUSG00000021023 AA Change: N73S
Domain | Start | End | E-Value | Type |
PDB:4G26|A
|
153 |
581 |
1e-9 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184980
|
SMART Domains |
Protein: ENSMUSP00000139123 Gene: ENSMUSG00000021023
Domain | Start | End | E-Value | Type |
low complexity region
|
113 |
127 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218116
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy1 |
T |
A |
11: 7,050,565 (GRCm39) |
|
probably benign |
Het |
Adipor2 |
G |
A |
6: 119,338,825 (GRCm39) |
H143Y |
probably damaging |
Het |
Ankar |
A |
G |
1: 72,738,146 (GRCm39) |
I12T |
probably benign |
Het |
Ankdd1a |
C |
T |
9: 65,414,893 (GRCm39) |
|
probably benign |
Het |
Cadps |
A |
G |
14: 12,373,609 (GRCm38) |
|
probably benign |
Het |
Cdh22 |
G |
A |
2: 165,012,728 (GRCm39) |
T119M |
probably benign |
Het |
Col6a6 |
T |
A |
9: 105,566,825 (GRCm39) |
K2223N |
probably benign |
Het |
Dnah11 |
G |
A |
12: 118,156,005 (GRCm39) |
|
probably benign |
Het |
Ezh2 |
T |
C |
6: 47,508,982 (GRCm39) |
T674A |
probably damaging |
Het |
Ffar4 |
A |
G |
19: 38,085,978 (GRCm39) |
E135G |
probably damaging |
Het |
Fsip2 |
G |
A |
2: 82,824,349 (GRCm39) |
R6694Q |
possibly damaging |
Het |
Gm10717 |
A |
T |
9: 3,026,287 (GRCm39) |
Y195F |
probably damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Gm4222 |
A |
G |
2: 89,978,801 (GRCm39) |
|
probably benign |
Het |
Hipk3 |
T |
A |
2: 104,301,326 (GRCm39) |
N289Y |
probably damaging |
Het |
Kndc1 |
T |
C |
7: 139,503,705 (GRCm39) |
L1003P |
probably damaging |
Het |
Mdk |
T |
C |
2: 91,761,461 (GRCm39) |
N72S |
probably damaging |
Het |
Or2at4 |
T |
A |
7: 99,384,707 (GRCm39) |
I119N |
probably damaging |
Het |
Or52n2 |
T |
A |
7: 104,542,425 (GRCm39) |
I137F |
probably damaging |
Het |
Pafah1b3 |
A |
T |
7: 24,996,516 (GRCm39) |
C56S |
probably benign |
Het |
Pdzrn4 |
A |
G |
15: 92,644,159 (GRCm39) |
I189V |
probably damaging |
Het |
Plekhh2 |
A |
G |
17: 84,884,689 (GRCm39) |
N801S |
probably benign |
Het |
Pramel7 |
A |
T |
2: 87,321,457 (GRCm39) |
S193T |
possibly damaging |
Het |
Prkag1 |
A |
G |
15: 98,712,412 (GRCm39) |
I171T |
probably damaging |
Het |
Rap1b |
A |
T |
10: 117,658,765 (GRCm39) |
F23I |
probably damaging |
Het |
Scamp2 |
A |
G |
9: 57,468,399 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
T |
2: 76,714,818 (GRCm39) |
|
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r17 |
A |
T |
5: 109,574,916 (GRCm39) |
R74S |
probably benign |
Het |
Wif1 |
G |
T |
10: 120,931,940 (GRCm39) |
C288F |
probably damaging |
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 |
|
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 |
R0892:Prorp
|
UTSW |
12 |
55,429,033 (GRCm39) |
splice site |
probably null |
|
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 |
|
|
Posted On |
2014-05-07 |