Incidental Mutation 'R4081:Prorp'
ID |
316897 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prorp
|
Ensembl Gene |
ENSMUSG00000021023 |
Gene Name |
protein only RNase P catalytic subunit |
Synonyms |
Mrpp3, 1110008L16Rik |
MMRRC Submission |
040977-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.513)
|
Stock # |
R4081 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
55349422-55429276 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 55351398 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 236
(V236F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139252
(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 |
possibly damaging
Transcript: ENSMUST00000021411
AA Change: V236F
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000021411 Gene: ENSMUSG00000021023 AA Change: V236F
Domain | Start | End | E-Value | Type |
Pfam:PRORP
|
339 |
575 |
4.8e-106 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183475
AA Change: V236F
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000139252 Gene: ENSMUSG00000021023 AA Change: V236F
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 |
possibly damaging
Transcript: ENSMUST00000184766
AA Change: V236F
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000139204 Gene: ENSMUSG00000021023 AA Change: V236F
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
|
Meta Mutation Damage Score |
0.1603 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
Validation Efficiency |
98% (58/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
A |
T |
6: 23,109,497 (GRCm39) |
D324E |
possibly damaging |
Het |
Adad1 |
A |
G |
3: 37,118,512 (GRCm39) |
|
probably null |
Het |
Aim2 |
T |
C |
1: 173,287,417 (GRCm39) |
|
probably null |
Het |
Arhgef1 |
G |
T |
7: 24,625,271 (GRCm39) |
D850Y |
probably damaging |
Het |
Ccnf |
T |
C |
17: 24,442,872 (GRCm39) |
*778W |
probably null |
Het |
Cd53 |
T |
C |
3: 106,669,461 (GRCm39) |
H179R |
probably benign |
Het |
Cit |
G |
T |
5: 116,086,109 (GRCm39) |
R891L |
probably damaging |
Het |
Clec4b1 |
T |
C |
6: 123,046,733 (GRCm39) |
|
probably null |
Het |
Cntrl |
C |
A |
2: 35,051,938 (GRCm39) |
|
probably benign |
Het |
Cntrl |
A |
G |
2: 35,065,137 (GRCm39) |
D2148G |
probably damaging |
Het |
Cpa5 |
T |
C |
6: 30,631,228 (GRCm39) |
S381P |
probably benign |
Het |
Crybg1 |
A |
T |
10: 43,851,035 (GRCm39) |
V1612D |
probably damaging |
Het |
Cwc25 |
G |
T |
11: 97,644,744 (GRCm39) |
Q205K |
probably benign |
Het |
Cyp2d11 |
A |
T |
15: 82,276,002 (GRCm39) |
I193N |
possibly damaging |
Het |
Gdi2 |
T |
A |
13: 3,598,866 (GRCm39) |
C17S |
probably benign |
Het |
Gm5436 |
T |
A |
12: 84,305,489 (GRCm39) |
|
noncoding transcript |
Het |
Ifit1bl1 |
T |
C |
19: 34,572,040 (GRCm39) |
Y139C |
possibly damaging |
Het |
Insr |
A |
T |
8: 3,261,391 (GRCm39) |
M321K |
probably benign |
Het |
Ippk |
T |
A |
13: 49,599,852 (GRCm39) |
L237Q |
probably damaging |
Het |
Itpr1 |
T |
A |
6: 108,368,796 (GRCm39) |
I149N |
probably damaging |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,343,617 (GRCm39) |
H914L |
probably damaging |
Het |
Myd88 |
G |
T |
9: 119,169,053 (GRCm39) |
|
probably benign |
Het |
Myh2 |
T |
C |
11: 67,081,256 (GRCm39) |
S1291P |
probably benign |
Het |
Mylk3 |
G |
A |
8: 86,055,311 (GRCm39) |
L549F |
probably damaging |
Het |
Otog |
T |
C |
7: 45,937,723 (GRCm39) |
S1811P |
possibly damaging |
Het |
Phrf1 |
T |
C |
7: 140,838,970 (GRCm39) |
|
probably benign |
Het |
Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
Ptprh |
T |
A |
7: 4,583,987 (GRCm39) |
T202S |
probably damaging |
Het |
Ptprr |
A |
T |
10: 116,072,615 (GRCm39) |
K329N |
probably benign |
Het |
Rgl3 |
T |
A |
9: 21,898,971 (GRCm39) |
H156L |
possibly damaging |
Het |
Sema6b |
A |
G |
17: 56,435,307 (GRCm39) |
V312A |
probably damaging |
Het |
Sez6l |
T |
C |
5: 112,609,032 (GRCm39) |
I606V |
probably benign |
Het |
Slco1a1 |
T |
C |
6: 141,881,688 (GRCm39) |
E148G |
probably damaging |
Het |
Snph |
T |
C |
2: 151,435,722 (GRCm39) |
D402G |
probably damaging |
Het |
Sohlh1 |
A |
G |
2: 25,735,734 (GRCm39) |
V135A |
probably benign |
Het |
Sox14 |
T |
C |
9: 99,757,277 (GRCm39) |
E154G |
possibly damaging |
Het |
Spta1 |
A |
G |
1: 174,041,632 (GRCm39) |
D1334G |
probably benign |
Het |
Stard13 |
C |
A |
5: 151,016,294 (GRCm39) |
|
probably null |
Het |
Szt2 |
A |
G |
4: 118,230,764 (GRCm39) |
|
probably benign |
Het |
Tab2 |
G |
A |
10: 7,795,595 (GRCm39) |
P296S |
probably damaging |
Het |
Tbx15 |
A |
G |
3: 99,220,370 (GRCm39) |
D48G |
possibly damaging |
Het |
Tex10 |
T |
C |
4: 48,468,873 (GRCm39) |
S101G |
probably benign |
Het |
Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
Tulp4 |
C |
T |
17: 6,282,055 (GRCm39) |
H695Y |
probably damaging |
Het |
Vmn1r66 |
A |
G |
7: 10,008,733 (GRCm39) |
I100T |
probably damaging |
Het |
Vmn2r106 |
A |
T |
17: 20,487,818 (GRCm39) |
Y860* |
probably null |
Het |
Vwa3b |
C |
T |
1: 37,074,905 (GRCm39) |
T24I |
probably damaging |
Het |
Zfp541 |
G |
A |
7: 15,806,060 (GRCm39) |
S65N |
probably benign |
Het |
Zfp992 |
C |
T |
4: 146,551,976 (GRCm39) |
H566Y |
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 |
|
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 |
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'- TGGCATCGTGGGCTATAATC -3'
(R):5'- ACAAAAGTATGTCCAGGAGTTTGTC -3'
Sequencing Primer
(F):5'- CGTGGGCTATAATCTACTCGTCAAG -3'
(R):5'- CCAGGAGTTTGTCTGAATAGTGATC -3'
|
Posted On |
2015-05-15 |