Incidental Mutation 'R7967:Prorp'
| ID |
650432 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prorp
|
| Ensembl Gene |
ENSMUSG00000021023 |
| Gene Name |
protein only RNase P catalytic subunit |
| Synonyms |
Mrpp3, 1110008L16Rik |
| MMRRC Submission |
046010-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.550)
|
| Stock # |
R7967 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
55349422-55429276 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 55350979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 96
(G96D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021411
(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: G96D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000021411
Gene: ENSMUSG00000021023
AA Change: G96D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PRORP
|
339 |
575 |
4.8e-106 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183475
AA Change: G96D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139252
Gene: ENSMUSG00000021023
AA Change: G96D
| 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 |
probably benign
Transcript: ENSMUST00000184766
AA Change: G96D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139204
Gene: ENSMUSG00000021023
AA Change: G96D
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
A |
G |
3: 59,932,169 (GRCm39) |
H228R |
probably benign |
Het |
| Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
| Arhgef1 |
G |
A |
7: 24,616,306 (GRCm39) |
D317N |
probably damaging |
Het |
| Atp11b |
C |
A |
3: 35,895,192 (GRCm39) |
T910K |
probably benign |
Het |
| Babam1 |
T |
A |
8: 71,856,999 (GRCm39) |
L320Q |
probably damaging |
Het |
| C530025M09Rik |
G |
A |
2: 149,672,974 (GRCm39) |
R54C |
unknown |
Het |
| Cfap251 |
G |
A |
5: 123,421,579 (GRCm39) |
R644H |
possibly damaging |
Het |
| Cilp |
A |
T |
9: 65,185,494 (GRCm39) |
I530F |
possibly damaging |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Dgkh |
A |
G |
14: 78,857,256 (GRCm39) |
V302A |
probably benign |
Het |
| Eps8l3 |
A |
G |
3: 107,798,604 (GRCm39) |
K497E |
possibly damaging |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Exosc10 |
A |
G |
4: 148,649,121 (GRCm39) |
D337G |
probably damaging |
Het |
| Fabp3 |
A |
T |
4: 130,207,781 (GRCm39) |
H94L |
probably damaging |
Het |
| Flrt3 |
T |
A |
2: 140,501,811 (GRCm39) |
K606* |
probably null |
Het |
| Grm5 |
A |
G |
7: 87,624,569 (GRCm39) |
T379A |
probably damaging |
Het |
| Hecw1 |
T |
A |
13: 14,552,332 (GRCm39) |
Y89F |
probably damaging |
Het |
| Hoxd8 |
T |
C |
2: 74,536,378 (GRCm39) |
S163P |
probably damaging |
Het |
| Itih4 |
T |
A |
14: 30,614,370 (GRCm39) |
I440N |
probably damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,085,461 (GRCm39) |
D2236G |
probably damaging |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Klhl31 |
G |
A |
9: 77,557,430 (GRCm39) |
E49K |
probably damaging |
Het |
| Mmp10 |
A |
G |
9: 7,504,116 (GRCm39) |
Y185C |
probably damaging |
Het |
| Mtus2 |
A |
T |
5: 148,014,656 (GRCm39) |
E483V |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,456,119 (GRCm39) |
|
probably null |
Het |
| Or12e13 |
C |
T |
2: 87,663,863 (GRCm39) |
P160L |
possibly damaging |
Het |
| Orc3 |
A |
T |
4: 34,598,645 (GRCm39) |
M187K |
probably damaging |
Het |
| Pcdhb15 |
A |
G |
18: 37,607,902 (GRCm39) |
N378S |
probably damaging |
Het |
| Pgm2l1 |
A |
C |
7: 99,910,854 (GRCm39) |
H266P |
probably damaging |
Het |
| Pld5 |
A |
T |
1: 176,102,264 (GRCm39) |
D59E |
probably benign |
Het |
| Ppp2r2c |
A |
G |
5: 37,097,450 (GRCm39) |
D212G |
possibly damaging |
Het |
| Rccd1 |
G |
A |
7: 79,968,657 (GRCm39) |
S301L |
possibly damaging |
Het |
| Shbg |
T |
A |
11: 69,505,813 (GRCm39) |
D398V |
probably benign |
Het |
| St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
| Tecta |
G |
A |
9: 42,289,251 (GRCm39) |
T438M |
possibly damaging |
Het |
| Trpm6 |
A |
T |
19: 18,756,023 (GRCm39) |
I89F |
probably damaging |
Het |
| Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
| Ugt2b36 |
C |
A |
5: 87,214,236 (GRCm39) |
M469I |
probably damaging |
Het |
| Zfp599 |
A |
G |
9: 22,160,830 (GRCm39) |
V445A |
possibly damaging |
Het |
| Zmym6 |
T |
C |
4: 127,016,453 (GRCm39) |
C745R |
probably benign |
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 |
|
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 |
|
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'- AACCCTTACTTTGAGCTAGGCC -3'
(R):5'- CTGAACAACAGTTGCGTGCC -3'
Sequencing Primer
(F):5'- TACTTTGAGCTAGGCCCTGCG -3'
(R):5'- ACAACAGTTGCGTGCCATCTG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation