Incidental Mutation 'R5205:Prorp'
ID |
398462 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prorp
|
Ensembl Gene |
ENSMUSG00000021023 |
Gene Name |
protein only RNase P catalytic subunit |
Synonyms |
Mrpp3, 1110008L16Rik |
MMRRC Submission |
042780-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.550)
|
Stock # |
R5205 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
55349422-55429276 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 55351226 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 178
(Y178*)
|
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 null
Transcript: ENSMUST00000021411
AA Change: Y178*
|
SMART Domains |
Protein: ENSMUSP00000021411 Gene: ENSMUSG00000021023 AA Change: Y178*
Domain | Start | End | E-Value | Type |
Pfam:PRORP
|
339 |
575 |
4.8e-106 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000183475
AA Change: Y178*
|
SMART Domains |
Protein: ENSMUSP00000139252 Gene: ENSMUSG00000021023 AA Change: Y178*
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 null
Transcript: ENSMUST00000184766
AA Change: Y178*
|
SMART Domains |
Protein: ENSMUSP00000139204 Gene: ENSMUSG00000021023 AA Change: Y178*
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
100% (54/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts19 |
G |
A |
18: 59,101,880 (GRCm39) |
R650Q |
probably damaging |
Het |
Adgre4 |
G |
T |
17: 56,101,727 (GRCm39) |
E216* |
probably null |
Het |
Aldh6a1 |
T |
A |
12: 84,486,418 (GRCm39) |
M167L |
probably damaging |
Het |
Asb16 |
G |
A |
11: 102,159,820 (GRCm39) |
D58N |
probably damaging |
Het |
Cfap43 |
C |
A |
19: 47,885,987 (GRCm39) |
L209F |
possibly damaging |
Het |
Cfh |
A |
G |
1: 140,071,708 (GRCm39) |
C327R |
probably damaging |
Het |
Chd7 |
T |
A |
4: 8,752,509 (GRCm39) |
N335K |
possibly damaging |
Het |
Clca3a1 |
T |
C |
3: 144,452,545 (GRCm39) |
E646G |
possibly damaging |
Het |
Col6a6 |
A |
T |
9: 105,659,232 (GRCm39) |
V571D |
probably damaging |
Het |
Cttnbp2 |
T |
C |
6: 18,427,432 (GRCm39) |
|
probably benign |
Het |
Dennd1b |
T |
A |
1: 138,982,306 (GRCm39) |
S132T |
probably benign |
Het |
Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
Dnaaf2 |
C |
T |
12: 69,239,698 (GRCm39) |
V608I |
probably damaging |
Het |
Edem3 |
A |
T |
1: 151,687,270 (GRCm39) |
D717V |
probably damaging |
Het |
Fam135a |
T |
C |
1: 24,068,592 (GRCm39) |
N589S |
probably benign |
Het |
Gm13991 |
G |
C |
2: 116,358,681 (GRCm39) |
|
noncoding transcript |
Het |
Ighv2-3 |
T |
C |
12: 113,574,895 (GRCm39) |
S87G |
probably benign |
Het |
Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
Kcna2 |
T |
C |
3: 107,004,462 (GRCm39) |
|
probably benign |
Het |
Klra4 |
T |
A |
6: 130,039,080 (GRCm39) |
N104I |
probably damaging |
Het |
Lrrc28 |
A |
G |
7: 67,181,516 (GRCm39) |
S240P |
probably benign |
Het |
Majin |
T |
C |
19: 6,245,789 (GRCm39) |
I27T |
possibly damaging |
Het |
Mfhas1 |
G |
A |
8: 36,058,161 (GRCm39) |
E879K |
probably benign |
Het |
Mif-ps6 |
A |
T |
9: 14,756,768 (GRCm39) |
|
noncoding transcript |
Het |
Msh4 |
A |
G |
3: 153,572,049 (GRCm39) |
L583P |
probably damaging |
Het |
Nrxn1 |
A |
T |
17: 90,471,302 (GRCm39) |
N1234K |
probably damaging |
Het |
Or5b120 |
T |
C |
19: 13,480,163 (GRCm39) |
L152P |
probably damaging |
Het |
Orm1 |
T |
C |
4: 63,262,929 (GRCm39) |
I32T |
possibly damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Plppr2 |
A |
T |
9: 21,852,370 (GRCm39) |
T85S |
probably damaging |
Het |
Ppp1r9b |
T |
A |
11: 94,892,124 (GRCm39) |
W604R |
probably benign |
Het |
Prss56 |
G |
T |
1: 87,113,256 (GRCm39) |
D195Y |
probably damaging |
Het |
Psme4 |
T |
A |
11: 30,782,666 (GRCm39) |
|
probably benign |
Het |
Rbm25 |
T |
A |
12: 83,719,643 (GRCm39) |
D554E |
probably benign |
Het |
Rbm6 |
A |
G |
9: 107,665,542 (GRCm39) |
M618T |
probably benign |
Het |
Slc17a5 |
A |
G |
9: 78,485,899 (GRCm39) |
V62A |
probably damaging |
Het |
Slk |
T |
A |
19: 47,613,899 (GRCm39) |
N918K |
possibly damaging |
Het |
Syne1 |
C |
A |
10: 5,002,295 (GRCm39) |
A8126S |
probably benign |
Het |
Synj2 |
T |
C |
17: 5,991,793 (GRCm39) |
L23S |
probably damaging |
Het |
Taar2 |
A |
C |
10: 23,816,874 (GRCm39) |
H138P |
probably benign |
Het |
Taar7b |
A |
T |
10: 23,875,916 (GRCm39) |
E27V |
probably benign |
Het |
Tbc1d2b |
A |
G |
9: 90,089,863 (GRCm39) |
Y889H |
probably damaging |
Het |
Tmem43 |
T |
C |
6: 91,463,763 (GRCm39) |
I346T |
possibly damaging |
Het |
Ttc3 |
T |
A |
16: 94,248,918 (GRCm39) |
C1139S |
probably benign |
Het |
Txndc11 |
A |
G |
16: 10,946,529 (GRCm39) |
V94A |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,607,133 (GRCm39) |
H4009Q |
probably benign |
Het |
Wnk4 |
A |
G |
11: 101,155,964 (GRCm39) |
E407G |
possibly damaging |
Het |
Ybx1 |
G |
T |
4: 119,136,348 (GRCm39) |
D261E |
probably damaging |
Het |
Zfp985 |
A |
T |
4: 147,667,368 (GRCm39) |
I79F |
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 |
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 |
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'- TTTGAATTCCGCAGAGTGGG -3'
(R):5'- GGGCTCCTTGTATACAGTCAC -3'
Sequencing Primer
(F):5'- TTTGAATTCCGCAGAGTGGGATAAAC -3'
(R):5'- GGGCTCCTTGTATACAGTCACCATAG -3'
|
Posted On |
2016-07-06 |