Incidental Mutation 'R5078:Prpf31'
| ID |
386960 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prpf31
|
| Ensembl Gene |
ENSMUSG00000008373 |
| Gene Name |
pre-mRNA processing factor 31 |
| Synonyms |
PRP31, 1500019O16Rik, 2810404O06Rik, RP11 |
| MMRRC Submission |
042667-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5078 (G1)
|
| Quality Score |
206 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
3632984-3645484 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3637702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 180
(S180P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136031
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008517]
[ENSMUST00000108636]
[ENSMUST00000108641]
[ENSMUST00000125782]
[ENSMUST00000179769]
[ENSMUST00000206370]
[ENSMUST00000205596]
[ENSMUST00000155592]
|
| AlphaFold |
Q8CCF0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000008517
AA Change: S180P
PolyPhen 2
Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000008517
Gene: ENSMUSG00000008373
AA Change: S180P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
38 |
N/A |
INTRINSIC |
|
NOSIC
|
92 |
144 |
2.58e-22 |
SMART |
|
low complexity region
|
287 |
298 |
N/A |
INTRINSIC |
|
Pfam:Prp31_C
|
337 |
465 |
1.6e-48 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108636
AA Change: S180P
PolyPhen 2
Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000104276
Gene: ENSMUSG00000008373
AA Change: S180P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
38 |
N/A |
INTRINSIC |
|
NOSIC
|
92 |
144 |
2.58e-22 |
SMART |
|
Pfam:Nop
|
186 |
328 |
4.9e-46 |
PFAM |
|
Pfam:Prp31_C
|
330 |
459 |
4.1e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108641
|
| SMART Domains |
Protein: ENSMUSP00000104281
Gene: ENSMUSG00000006335
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
80 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125782
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134047
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143231
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148641
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179769
AA Change: S180P
PolyPhen 2
Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000136031
Gene: ENSMUSG00000008373
AA Change: S180P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
38 |
N/A |
INTRINSIC |
|
NOSIC
|
92 |
144 |
2.58e-22 |
SMART |
|
Pfam:Nop
|
186 |
328 |
4.9e-46 |
PFAM |
|
Pfam:Prp31_C
|
330 |
459 |
4.1e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206370
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205596
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155592
|
| SMART Domains |
Protein: ENSMUSP00000123636
Gene: ENSMUSG00000006335
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
80 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1212 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (53/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.[provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for a knock-in allele die prior to E10. Mice homozygous for a knock-out allele are not produced. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy9 |
T |
C |
16: 4,141,771 (GRCm39) |
S345G |
probably benign |
Het |
| Adgrf2 |
A |
T |
17: 43,021,877 (GRCm39) |
F316I |
probably damaging |
Het |
| Ank2 |
A |
G |
3: 126,736,002 (GRCm39) |
|
probably benign |
Het |
| Auts2 |
T |
C |
5: 132,287,786 (GRCm39) |
K66E |
possibly damaging |
Het |
| Bicra |
T |
C |
7: 15,709,382 (GRCm39) |
D1144G |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,557,312 (GRCm39) |
S1109P |
probably damaging |
Het |
| Camkv |
T |
C |
9: 107,822,572 (GRCm39) |
V29A |
probably damaging |
Het |
| Ccdc178 |
A |
T |
18: 22,200,685 (GRCm39) |
|
probably null |
Het |
| Ccser1 |
G |
A |
6: 61,288,350 (GRCm39) |
R171H |
probably damaging |
Het |
| Cdk19 |
A |
G |
10: 40,312,150 (GRCm39) |
Y133C |
probably damaging |
Het |
| Cerkl |
T |
A |
2: 79,223,352 (GRCm39) |
D123V |
probably benign |
Het |
| Chd1 |
T |
C |
17: 15,946,616 (GRCm39) |
S121P |
possibly damaging |
Het |
| Col4a2 |
T |
C |
8: 11,493,936 (GRCm39) |
V1459A |
probably benign |
Het |
| Dlg1 |
T |
A |
16: 31,675,287 (GRCm39) |
Y704* |
probably null |
Het |
| Dsg2 |
T |
C |
18: 20,729,140 (GRCm39) |
|
probably null |
Het |
| Egln3 |
T |
C |
12: 54,228,453 (GRCm39) |
R218G |
probably damaging |
Het |
| Gm11568 |
T |
C |
11: 99,749,181 (GRCm39) |
C129R |
unknown |
Het |
| Gm13991 |
T |
C |
2: 116,358,355 (GRCm39) |
|
noncoding transcript |
Het |
| Gmnc |
C |
A |
16: 26,784,332 (GRCm39) |
V58L |
probably benign |
Het |
| Gpx5 |
A |
G |
13: 21,472,881 (GRCm39) |
F151S |
probably damaging |
Het |
| Helz |
G |
A |
11: 107,546,922 (GRCm39) |
G1079R |
probably damaging |
Het |
| Ice1 |
T |
C |
13: 70,752,969 (GRCm39) |
E1039G |
probably benign |
Het |
| Kif18a |
T |
C |
2: 109,125,487 (GRCm39) |
|
probably benign |
Het |
| Klhl29 |
T |
C |
12: 5,143,530 (GRCm39) |
T500A |
possibly damaging |
Het |
| Lrfn5 |
A |
C |
12: 61,890,660 (GRCm39) |
K650Q |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,331,874 (GRCm39) |
D1627G |
possibly damaging |
Het |
| Nxn |
T |
C |
11: 76,152,433 (GRCm39) |
K354E |
probably damaging |
Het |
| Or5d20-ps1 |
T |
A |
2: 87,931,879 (GRCm39) |
I151L |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,478,895 (GRCm39) |
T2118A |
probably benign |
Het |
| Phldb2 |
A |
G |
16: 45,598,105 (GRCm39) |
F861L |
possibly damaging |
Het |
| Piezo2 |
A |
G |
18: 63,157,607 (GRCm39) |
Y2368H |
probably damaging |
Het |
| Pnp |
T |
A |
14: 51,188,963 (GRCm39) |
L252* |
probably null |
Het |
| Prom2 |
T |
C |
2: 127,373,757 (GRCm39) |
Q641R |
probably benign |
Het |
| Prss27 |
C |
A |
17: 24,263,414 (GRCm39) |
Y142* |
probably null |
Het |
| Ripk1 |
T |
G |
13: 34,201,082 (GRCm39) |
M265R |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Ropn1 |
T |
A |
16: 34,487,161 (GRCm39) |
D32E |
probably damaging |
Het |
| Rps23 |
T |
C |
13: 91,071,822 (GRCm39) |
F41L |
probably benign |
Het |
| Sec24d |
A |
G |
3: 123,084,201 (GRCm39) |
I127V |
probably benign |
Het |
| Selenot |
C |
T |
3: 58,492,692 (GRCm39) |
R60W |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,546,921 (GRCm39) |
K342E |
probably damaging |
Het |
| Tlx1 |
A |
T |
19: 45,144,460 (GRCm39) |
N61Y |
probably damaging |
Het |
| Vmn2r117 |
T |
A |
17: 23,679,122 (GRCm39) |
I701F |
probably damaging |
Het |
| Zmynd12 |
A |
G |
4: 119,302,047 (GRCm39) |
K229E |
probably damaging |
Het |
|
| Other mutations in Prpf31 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02452:Prpf31
|
APN |
7 |
3,637,185 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02537:Prpf31
|
APN |
7 |
3,641,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02547:Prpf31
|
APN |
7 |
3,633,898 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02979:Prpf31
|
APN |
7 |
3,633,598 (GRCm39) |
unclassified |
probably benign |
|
|
R0024:Prpf31
|
UTSW |
7 |
3,639,658 (GRCm39) |
splice site |
probably null |
|
|
R0024:Prpf31
|
UTSW |
7 |
3,639,658 (GRCm39) |
splice site |
probably null |
|
|
R0026:Prpf31
|
UTSW |
7 |
3,642,667 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0026:Prpf31
|
UTSW |
7 |
3,642,667 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1523:Prpf31
|
UTSW |
7 |
3,643,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5243:Prpf31
|
UTSW |
7 |
3,641,753 (GRCm39) |
nonsense |
probably null |
|
|
R5473:Prpf31
|
UTSW |
7 |
3,642,824 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6025:Prpf31
|
UTSW |
7 |
3,642,668 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6115:Prpf31
|
UTSW |
7 |
3,642,705 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7330:Prpf31
|
UTSW |
7 |
3,642,854 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7469:Prpf31
|
UTSW |
7 |
3,636,392 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7869:Prpf31
|
UTSW |
7 |
3,633,859 (GRCm39) |
missense |
probably benign |
|
|
R8293:Prpf31
|
UTSW |
7 |
3,643,917 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8518:Prpf31
|
UTSW |
7 |
3,635,742 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGACCACCAGTTAGAAATGTACCTAG -3'
(R):5'- ACCTCACCCATGATCTTGGC -3'
Sequencing Primer
(F):5'- ATGGTGGCTCACAACCATCTG -3'
(R):5'- ACCCATGATCTTGGCAGCTG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation