Incidental Mutation 'R5409:Rprd1b'
| ID |
426434 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rprd1b
|
| Ensembl Gene |
ENSMUSG00000027651 |
| Gene Name |
regulation of nuclear pre-mRNA domain containing 1B |
| Synonyms |
2810446G03Rik, Crept, 2610304G08Rik |
| MMRRC Submission |
042978-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
R5409 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
157870395-157920127 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 157916987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 322
(F322L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099412
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029180]
[ENSMUST00000103123]
[ENSMUST00000109518]
[ENSMUST00000152452]
|
| AlphaFold |
Q9CSU0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029180
AA Change: F323L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029180
Gene: ENSMUSG00000027651
AA Change: F323L
| Domain | Start | End | E-Value | Type |
|---|
|
RPR
|
8 |
130 |
1.71e-53 |
SMART |
|
low complexity region
|
132 |
145 |
N/A |
INTRINSIC |
|
Pfam:CREPT
|
178 |
324 |
1.7e-65 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103123
AA Change: F322L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099412
Gene: ENSMUSG00000027651
AA Change: F322L
| Domain | Start | End | E-Value | Type |
|---|
|
RPR
|
8 |
130 |
1.71e-53 |
SMART |
|
PDB:4NAD|A
|
176 |
325 |
1e-85 |
PDB |
|
Blast:RPR
|
219 |
260 |
3e-12 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109518
|
| SMART Domains |
Protein: ENSMUSP00000105144
Gene: ENSMUSG00000027651
| Domain | Start | End | E-Value | Type |
|---|
|
RPR
|
8 |
130 |
1.71e-53 |
SMART |
|
low complexity region
|
132 |
145 |
N/A |
INTRINSIC |
|
PDB:4FLA|D
|
171 |
265 |
4e-59 |
PDB |
|
Blast:RPR
|
220 |
261 |
2e-12 |
BLAST |
|
low complexity region
|
266 |
279 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128206
|
| SMART Domains |
Protein: ENSMUSP00000117807
Gene: ENSMUSG00000027651
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RPR
|
2 |
30 |
4e-12 |
BLAST |
|
PDB:4HFG|B
|
2 |
30 |
4e-13 |
PDB |
|
low complexity region
|
31 |
47 |
N/A |
INTRINSIC |
|
Pfam:CREPT
|
78 |
192 |
5.9e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135603
|
| SMART Domains |
Protein: ENSMUSP00000122419
Gene: ENSMUSG00000027651
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CREPT
|
26 |
131 |
2e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152452
|
| SMART Domains |
Protein: ENSMUSP00000118434
Gene: ENSMUSG00000027651
| Domain | Start | End | E-Value | Type |
|---|
|
RPR
|
8 |
130 |
1.71e-53 |
SMART |
|
low complexity region
|
132 |
145 |
N/A |
INTRINSIC |
|
PDB:4FLA|D
|
171 |
222 |
3e-25 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156552
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186977
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,850,154 (GRCm39) |
L2002P |
probably damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Adgrl1 |
A |
G |
8: 84,656,371 (GRCm39) |
T230A |
probably damaging |
Het |
| Anapc4 |
A |
G |
5: 53,005,941 (GRCm39) |
E316G |
probably damaging |
Het |
| Asic1 |
GCACC |
GCACCACC |
15: 99,596,684 (GRCm39) |
|
probably benign |
Het |
| Aurka |
T |
G |
2: 172,209,036 (GRCm39) |
Q33P |
possibly damaging |
Het |
| Ccn5 |
G |
A |
2: 163,667,158 (GRCm39) |
C53Y |
probably damaging |
Het |
| Cenpm |
T |
C |
15: 82,118,564 (GRCm39) |
T153A |
probably benign |
Het |
| Clca4b |
T |
A |
3: 144,622,452 (GRCm39) |
K538* |
probably null |
Het |
| Clip2 |
G |
A |
5: 134,551,645 (GRCm39) |
T159M |
possibly damaging |
Het |
| Col5a1 |
C |
T |
2: 27,850,457 (GRCm39) |
T518I |
unknown |
Het |
| Dis3 |
A |
T |
14: 99,323,368 (GRCm39) |
M566K |
possibly damaging |
Het |
| Dnah1 |
C |
T |
14: 30,985,212 (GRCm39) |
R3869H |
probably damaging |
Het |
| Gm4775 |
A |
T |
14: 106,338,386 (GRCm39) |
|
noncoding transcript |
Het |
| Hipk2 |
C |
T |
6: 38,706,977 (GRCm39) |
G637D |
probably damaging |
Het |
| Igkv4-61 |
T |
C |
6: 69,394,111 (GRCm39) |
K18E |
possibly damaging |
Het |
| Kcnk4 |
A |
G |
19: 6,903,578 (GRCm39) |
S324P |
probably benign |
Het |
| Larp4 |
T |
C |
15: 99,883,945 (GRCm39) |
C61R |
probably damaging |
Het |
| Nid2 |
T |
C |
14: 19,856,030 (GRCm39) |
F986L |
probably damaging |
Het |
| Or5ac16 |
A |
G |
16: 59,021,920 (GRCm39) |
Y290H |
probably damaging |
Het |
| Or5aq1b |
T |
C |
2: 86,902,214 (GRCm39) |
E88G |
possibly damaging |
Het |
| Or5h22 |
C |
T |
16: 58,894,559 (GRCm39) |
V295I |
possibly damaging |
Het |
| Pgbd5 |
T |
A |
8: 125,098,619 (GRCm39) |
I359F |
probably damaging |
Het |
| Plekhh2 |
T |
C |
17: 84,893,906 (GRCm39) |
|
probably null |
Het |
| Pomgnt2 |
A |
T |
9: 121,811,303 (GRCm39) |
S493T |
possibly damaging |
Het |
| Rnf7l |
A |
T |
10: 63,257,403 (GRCm39) |
M39K |
possibly damaging |
Het |
| Rp1l1 |
T |
C |
14: 64,268,070 (GRCm39) |
S1219P |
probably benign |
Het |
| Sh3rf1 |
G |
A |
8: 61,827,279 (GRCm39) |
V678M |
probably benign |
Het |
| Smpd5 |
C |
A |
15: 76,179,914 (GRCm39) |
T321K |
probably damaging |
Het |
| Spag8 |
T |
A |
4: 43,653,134 (GRCm39) |
|
probably benign |
Het |
| Tanc2 |
T |
C |
11: 105,758,311 (GRCm39) |
C691R |
possibly damaging |
Het |
| Tnc |
A |
C |
4: 63,884,773 (GRCm39) |
M1834R |
probably damaging |
Het |
| Tnc |
A |
T |
4: 63,925,654 (GRCm39) |
Y961N |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,700,893 (GRCm39) |
|
probably benign |
Het |
| Ufl1 |
A |
G |
4: 25,280,706 (GRCm39) |
V47A |
probably damaging |
Het |
| Unc13c |
T |
A |
9: 73,485,672 (GRCm39) |
D1676V |
possibly damaging |
Het |
| Vmn1r65 |
T |
C |
7: 6,012,012 (GRCm39) |
N74S |
possibly damaging |
Het |
| Vmn2r30 |
A |
G |
7: 7,315,547 (GRCm39) |
F762S |
probably damaging |
Het |
|
| Other mutations in Rprd1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01682:Rprd1b
|
APN |
2 |
157,892,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02740:Rprd1b
|
APN |
2 |
157,889,899 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03335:Rprd1b
|
APN |
2 |
157,916,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Rarefied
|
UTSW |
2 |
157,900,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4585001:Rprd1b
|
UTSW |
2 |
157,889,877 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4761:Rprd1b
|
UTSW |
2 |
157,889,890 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4860:Rprd1b
|
UTSW |
2 |
157,916,855 (GRCm39) |
nonsense |
probably null |
|
|
R4860:Rprd1b
|
UTSW |
2 |
157,916,855 (GRCm39) |
nonsense |
probably null |
|
|
R5352:Rprd1b
|
UTSW |
2 |
157,900,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7251:Rprd1b
|
UTSW |
2 |
157,870,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8083:Rprd1b
|
UTSW |
2 |
157,892,052 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0028:Rprd1b
|
UTSW |
2 |
157,889,890 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACTAGCTGATTGGCATGAAG -3'
(R):5'- TCTGCATGGCTCTGAACCATG -3'
Sequencing Primer
(F):5'- AGCCCAGCAGTGTAACTCAGG -3'
(R):5'- ATGGCTCTGAACCATGCTCAG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation