Incidental Mutation 'R4375:Proser3'
| ID |
325070 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Proser3
|
| Ensembl Gene |
ENSMUSG00000036864 |
| Gene Name |
proline and serine rich 3 |
| Synonyms |
BC053749 |
| MMRRC Submission |
041119-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R4375 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
30238559-30251724 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30240096 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 336
(V336A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148912
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062708]
[ENSMUST00000108165]
[ENSMUST00000215288]
|
| AlphaFold |
Q7TSA6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062708
AA Change: V336A
PolyPhen 2
Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000059135
Gene: ENSMUSG00000036864
AA Change: V336A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
140 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
202 |
N/A |
INTRINSIC |
|
low complexity region
|
351 |
365 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
388 |
407 |
N/A |
INTRINSIC |
|
low complexity region
|
599 |
614 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108165
AA Change: V336A
PolyPhen 2
Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103800
Gene: ENSMUSG00000036864
AA Change: V336A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
140 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
202 |
N/A |
INTRINSIC |
|
low complexity region
|
351 |
365 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
388 |
407 |
N/A |
INTRINSIC |
|
low complexity region
|
599 |
614 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134113
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208842
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215288
AA Change: V336A
PolyPhen 2
Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adhfe1 |
A |
T |
1: 9,631,853 (GRCm39) |
|
probably benign |
Het |
| Cd209c |
T |
C |
8: 4,004,635 (GRCm39) |
|
noncoding transcript |
Het |
| Cntnap1 |
A |
G |
11: 101,073,079 (GRCm39) |
D561G |
probably damaging |
Het |
| Csf1 |
T |
A |
3: 107,664,055 (GRCm39) |
T38S |
probably damaging |
Het |
| Cyp4b1 |
T |
C |
4: 115,493,510 (GRCm39) |
T191A |
probably benign |
Het |
| Dapk1 |
A |
T |
13: 60,909,403 (GRCm39) |
M1339L |
probably benign |
Het |
| Dpm3 |
T |
C |
3: 89,174,215 (GRCm39) |
Y59H |
probably damaging |
Het |
| Eif2ak4 |
A |
G |
2: 118,258,405 (GRCm39) |
Y585C |
probably damaging |
Het |
| Ercc1 |
G |
A |
7: 19,081,057 (GRCm39) |
|
probably benign |
Het |
| Fam184b |
T |
C |
5: 45,699,685 (GRCm39) |
D577G |
probably benign |
Het |
| Gon4l |
C |
A |
3: 88,814,694 (GRCm39) |
P1888T |
probably benign |
Het |
| Hsf2bp |
C |
T |
17: 32,206,322 (GRCm39) |
D270N |
probably null |
Het |
| Lactbl1 |
T |
C |
4: 136,364,902 (GRCm39) |
V418A |
possibly damaging |
Het |
| Lifr |
A |
T |
15: 7,196,379 (GRCm39) |
M188L |
probably benign |
Het |
| Ltbp1 |
G |
T |
17: 75,619,992 (GRCm39) |
G760V |
probably damaging |
Het |
| Marchf11 |
A |
G |
15: 26,309,532 (GRCm39) |
E62G |
probably damaging |
Het |
| Nlrp12 |
A |
G |
7: 3,289,576 (GRCm39) |
L312P |
possibly damaging |
Het |
| Or1l4 |
T |
A |
2: 37,091,574 (GRCm39) |
M107K |
probably benign |
Het |
| Or52ae7 |
T |
C |
7: 103,119,278 (GRCm39) |
S11P |
probably damaging |
Het |
| Or8c20 |
T |
C |
9: 38,260,465 (GRCm39) |
F23L |
probably benign |
Het |
| Pcdh17 |
T |
C |
14: 84,685,711 (GRCm39) |
V726A |
possibly damaging |
Het |
| Pdia4 |
G |
A |
6: 47,775,326 (GRCm39) |
R495W |
probably damaging |
Het |
| Phf20l1 |
T |
C |
15: 66,487,071 (GRCm39) |
S369P |
probably benign |
Het |
| Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
| Prcc |
A |
G |
3: 87,774,714 (GRCm39) |
Y363H |
probably damaging |
Het |
| Rbbp8 |
C |
T |
18: 11,858,467 (GRCm39) |
T646M |
probably benign |
Het |
| Rgs1 |
T |
C |
1: 144,123,644 (GRCm39) |
T94A |
probably benign |
Het |
| Rpl11 |
G |
A |
4: 135,778,454 (GRCm39) |
|
probably benign |
Het |
| Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
| Snx9 |
G |
A |
17: 5,958,901 (GRCm39) |
W292* |
probably null |
Het |
| St14 |
T |
C |
9: 31,001,754 (GRCm39) |
I784V |
probably benign |
Het |
| Steep1 |
C |
A |
X: 36,087,812 (GRCm39) |
C206F |
probably benign |
Het |
| Strc |
A |
G |
2: 121,211,304 (GRCm39) |
S14P |
unknown |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Ubap1 |
G |
A |
4: 41,371,850 (GRCm39) |
|
probably null |
Het |
| Zfr |
T |
C |
15: 12,118,426 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Proser3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00533:Proser3
|
APN |
7 |
30,240,096 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL01346:Proser3
|
APN |
7 |
30,249,071 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02465:Proser3
|
APN |
7 |
30,242,958 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03178:Proser3
|
APN |
7 |
30,243,034 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03372:Proser3
|
APN |
7 |
30,242,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
K3955:Proser3
|
UTSW |
7 |
30,242,924 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0008:Proser3
|
UTSW |
7 |
30,239,563 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0008:Proser3
|
UTSW |
7 |
30,239,563 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0255:Proser3
|
UTSW |
7 |
30,245,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0627:Proser3
|
UTSW |
7 |
30,240,208 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0702:Proser3
|
UTSW |
7 |
30,238,955 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0883:Proser3
|
UTSW |
7 |
30,240,124 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1185:Proser3
|
UTSW |
7 |
30,245,572 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1457:Proser3
|
UTSW |
7 |
30,239,172 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1650:Proser3
|
UTSW |
7 |
30,239,751 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1697:Proser3
|
UTSW |
7 |
30,239,446 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3121:Proser3
|
UTSW |
7 |
30,239,796 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4210:Proser3
|
UTSW |
7 |
30,245,525 (GRCm39) |
intron |
probably benign |
|
|
R5364:Proser3
|
UTSW |
7 |
30,245,573 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6225:Proser3
|
UTSW |
7 |
30,243,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6831:Proser3
|
UTSW |
7 |
30,239,781 (GRCm39) |
missense |
probably benign |
|
|
R7151:Proser3
|
UTSW |
7 |
30,239,749 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7707:Proser3
|
UTSW |
7 |
30,239,216 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7748:Proser3
|
UTSW |
7 |
30,239,497 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7923:Proser3
|
UTSW |
7 |
30,249,086 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8975:Proser3
|
UTSW |
7 |
30,239,458 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9366:Proser3
|
UTSW |
7 |
30,248,478 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9502:Proser3
|
UTSW |
7 |
30,245,587 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9673:Proser3
|
UTSW |
7 |
30,248,530 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0028:Proser3
|
UTSW |
7 |
30,240,187 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z31818:Proser3
|
UTSW |
7 |
30,245,790 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGCTGGATAGAGCTACTCAG -3'
(R):5'- AGCCTGACGGTAATAAGGGTC -3'
Sequencing Primer
(F):5'- TACTCAGCTCAGGGATGGCTG -3'
(R):5'- CTGACGGTAATAAGGGTCACTCC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation