Incidental Mutation 'R6090:Proser1'
| ID |
486131 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Proser1
|
| Ensembl Gene |
ENSMUSG00000049504 |
| Gene Name |
proline and serine rich 1 |
| Synonyms |
2810046L04Rik |
| MMRRC Submission |
044247-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6090 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
53371216-53389176 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 53386088 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 657
(M657L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058577]
|
| AlphaFold |
Q5PRE5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058577
AA Change: M657L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000055253
Gene: ENSMUSG00000049504
AA Change: M657L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4476
|
1 |
63 |
5e-12 |
PFAM |
|
Pfam:DUF4476
|
30 |
121 |
4e-27 |
PFAM |
|
low complexity region
|
227 |
246 |
N/A |
INTRINSIC |
|
low complexity region
|
276 |
297 |
N/A |
INTRINSIC |
|
low complexity region
|
302 |
316 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
357 |
N/A |
INTRINSIC |
|
low complexity region
|
399 |
412 |
N/A |
INTRINSIC |
|
low complexity region
|
696 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
804 |
N/A |
INTRINSIC |
|
low complexity region
|
806 |
817 |
N/A |
INTRINSIC |
|
low complexity region
|
820 |
834 |
N/A |
INTRINSIC |
|
low complexity region
|
854 |
880 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141418
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200328
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved protein containing proline and serine rich regions. These regions may be important in protein-protein interactions. [provided by RefSeq, Aug 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
T |
6: 121,624,972 (GRCm39) |
A450V |
probably benign |
Het |
| Abca8a |
T |
C |
11: 109,954,048 (GRCm39) |
|
probably null |
Het |
| Adgrl3 |
A |
T |
5: 81,660,173 (GRCm39) |
N246I |
probably damaging |
Het |
| Bmal2 |
T |
A |
6: 146,731,194 (GRCm39) |
S500T |
possibly damaging |
Het |
| Cdipt |
A |
T |
7: 126,576,131 (GRCm39) |
M29L |
possibly damaging |
Het |
| Chml |
G |
T |
1: 175,514,624 (GRCm39) |
Y432* |
probably null |
Het |
| Clasp2 |
G |
T |
9: 113,681,803 (GRCm39) |
V320L |
probably benign |
Het |
| Col12a1 |
G |
A |
9: 79,599,675 (GRCm39) |
T826M |
probably damaging |
Het |
| Cpsf3 |
A |
G |
12: 21,345,194 (GRCm39) |
I169V |
probably damaging |
Het |
| Dhx36 |
G |
A |
3: 62,404,241 (GRCm39) |
T234M |
probably damaging |
Het |
| Dhx57 |
A |
G |
17: 80,571,375 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
A |
T |
14: 30,991,382 (GRCm39) |
I3132N |
possibly damaging |
Het |
| Fbxw20 |
G |
T |
9: 109,052,431 (GRCm39) |
Q231K |
probably benign |
Het |
| Gfod1 |
G |
T |
13: 43,354,437 (GRCm39) |
Y179* |
probably null |
Het |
| Glg1 |
T |
A |
8: 111,907,667 (GRCm39) |
I510F |
probably damaging |
Het |
| Gm10801 |
TC |
TCGGC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
| Gse1 |
C |
A |
8: 121,297,908 (GRCm39) |
|
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Klrd1 |
T |
C |
6: 129,572,499 (GRCm39) |
L97P |
probably damaging |
Het |
| Lgmn |
A |
T |
12: 102,366,413 (GRCm39) |
M240K |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 41,075,880 (GRCm39) |
|
probably null |
Het |
| Notch2 |
A |
T |
3: 98,042,693 (GRCm39) |
R1353* |
probably null |
Het |
| Or2d2b |
A |
G |
7: 106,705,456 (GRCm39) |
V204A |
possibly damaging |
Het |
| Or5t18 |
A |
C |
2: 86,636,701 (GRCm39) |
V214G |
possibly damaging |
Het |
| Pcdhb14 |
G |
A |
18: 37,581,659 (GRCm39) |
S255N |
probably benign |
Het |
| Pcgf2 |
C |
T |
11: 97,581,817 (GRCm39) |
M25I |
possibly damaging |
Het |
| Poll |
G |
T |
19: 45,544,436 (GRCm39) |
D328E |
probably benign |
Het |
| Pomgnt2 |
A |
T |
9: 121,811,863 (GRCm39) |
L306Q |
probably damaging |
Het |
| Rbm47 |
G |
C |
5: 66,183,626 (GRCm39) |
R326G |
probably damaging |
Het |
| Rdh11 |
G |
T |
12: 79,235,838 (GRCm39) |
P37T |
probably benign |
Het |
| Rsph10b |
A |
T |
5: 143,913,946 (GRCm39) |
I286L |
probably benign |
Het |
| Septin4 |
G |
A |
11: 87,480,343 (GRCm39) |
R238K |
possibly damaging |
Het |
| Sptan1 |
C |
T |
2: 29,883,899 (GRCm39) |
R580C |
probably damaging |
Het |
| Stard9 |
T |
A |
2: 120,524,135 (GRCm39) |
W777R |
probably damaging |
Het |
| Timd2 |
T |
C |
11: 46,578,063 (GRCm39) |
T23A |
probably benign |
Het |
| Tmc4 |
A |
G |
7: 3,674,052 (GRCm39) |
Y376H |
probably damaging |
Het |
| Tmem143 |
A |
G |
7: 45,558,950 (GRCm39) |
I297M |
probably benign |
Het |
| Togaram1 |
A |
G |
12: 65,014,575 (GRCm39) |
T609A |
probably benign |
Het |
| Tyw3 |
T |
C |
3: 154,302,704 (GRCm39) |
H10R |
probably benign |
Het |
| Unc13b |
C |
A |
4: 43,239,306 (GRCm39) |
H3456Q |
probably damaging |
Het |
| Zfp131 |
A |
T |
13: 120,237,532 (GRCm39) |
H275Q |
probably damaging |
Het |
|
| Other mutations in Proser1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02035:Proser1
|
APN |
3 |
53,386,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02217:Proser1
|
APN |
3 |
53,378,912 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02260:Proser1
|
APN |
3 |
53,386,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02943:Proser1
|
APN |
3 |
53,386,524 (GRCm39) |
missense |
probably damaging |
0.98 |
|
donatello
|
UTSW |
3 |
53,374,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0166:Proser1
|
UTSW |
3 |
53,388,038 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0230:Proser1
|
UTSW |
3 |
53,386,383 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0579:Proser1
|
UTSW |
3 |
53,374,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0599:Proser1
|
UTSW |
3 |
53,386,485 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0616:Proser1
|
UTSW |
3 |
53,382,118 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0622:Proser1
|
UTSW |
3 |
53,385,281 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0629:Proser1
|
UTSW |
3 |
53,386,485 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0707:Proser1
|
UTSW |
3 |
53,386,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1568:Proser1
|
UTSW |
3 |
53,385,180 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1997:Proser1
|
UTSW |
3 |
53,386,292 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2129:Proser1
|
UTSW |
3 |
53,385,366 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2207:Proser1
|
UTSW |
3 |
53,385,812 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2851:Proser1
|
UTSW |
3 |
53,387,966 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4077:Proser1
|
UTSW |
3 |
53,385,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4093:Proser1
|
UTSW |
3 |
53,387,133 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4970:Proser1
|
UTSW |
3 |
53,371,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4988:Proser1
|
UTSW |
3 |
53,387,046 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5611:Proser1
|
UTSW |
3 |
53,386,296 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6146:Proser1
|
UTSW |
3 |
53,385,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6459:Proser1
|
UTSW |
3 |
53,385,750 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6880:Proser1
|
UTSW |
3 |
53,385,260 (GRCm39) |
missense |
probably benign |
|
|
R7308:Proser1
|
UTSW |
3 |
53,386,125 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7456:Proser1
|
UTSW |
3 |
53,385,939 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7787:Proser1
|
UTSW |
3 |
53,380,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7903:Proser1
|
UTSW |
3 |
53,386,503 (GRCm39) |
nonsense |
probably null |
|
|
R8108:Proser1
|
UTSW |
3 |
53,379,509 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8172:Proser1
|
UTSW |
3 |
53,386,272 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8414:Proser1
|
UTSW |
3 |
53,385,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8677:Proser1
|
UTSW |
3 |
53,385,122 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9064:Proser1
|
UTSW |
3 |
53,384,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9164:Proser1
|
UTSW |
3 |
53,379,494 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9555:Proser1
|
UTSW |
3 |
53,378,876 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGCTCACTTTTGCACG -3'
(R):5'- AGGGTGTACAGCTGCAGATG -3'
Sequencing Primer
(F):5'- TGCCCGTTATGATAAAAAGTGAGCC -3'
(R):5'- ACAGCTGCAGATGTGGTG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation