Incidental Mutation 'R2325:Prss35'
| ID |
244888 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prss35
|
| Ensembl Gene |
ENSMUSG00000033491 |
| Gene Name |
serine protease 35 |
| Synonyms |
6030424L22Rik |
| MMRRC Submission |
040316-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R2325 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
86625702-86640496 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 86638357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 376
(G376R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036426]
[ENSMUST00000179574]
|
| AlphaFold |
Q8C0F9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036426
AA Change: G376R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035271
Gene: ENSMUSG00000033491
AA Change: G376R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
83 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
132 |
399 |
4.13e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179574
AA Change: G376R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137445
Gene: ENSMUSG00000033491
AA Change: G376R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
83 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
132 |
399 |
4.13e-2 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c20 |
T |
C |
13: 4,573,295 (GRCm39) |
T7A |
probably benign |
Het |
| Atoh7 |
C |
A |
10: 62,935,924 (GRCm39) |
|
probably benign |
Het |
| Atp2b1 |
C |
T |
10: 98,854,757 (GRCm39) |
Q219* |
probably null |
Het |
| B3galt2 |
A |
G |
1: 143,522,926 (GRCm39) |
D354G |
probably benign |
Het |
| Cdh9 |
A |
G |
15: 16,778,286 (GRCm39) |
R34G |
probably benign |
Het |
| Cyp4x1 |
A |
T |
4: 114,981,576 (GRCm39) |
C126S |
probably benign |
Het |
| Dse |
A |
T |
10: 34,060,043 (GRCm39) |
S21T |
probably benign |
Het |
| Ell2 |
T |
A |
13: 75,917,745 (GRCm39) |
H558Q |
probably damaging |
Het |
| Elp1 |
A |
T |
4: 56,784,622 (GRCm39) |
M457K |
probably benign |
Het |
| Esco2 |
A |
T |
14: 66,064,027 (GRCm39) |
|
probably null |
Het |
| Fam170a |
A |
G |
18: 50,414,917 (GRCm39) |
K188E |
possibly damaging |
Het |
| Gin1 |
A |
C |
1: 97,720,286 (GRCm39) |
Y516S |
probably damaging |
Het |
| Gm8439 |
A |
G |
4: 120,446,048 (GRCm39) |
E16G |
unknown |
Het |
| Gtf2b |
A |
G |
3: 142,485,851 (GRCm39) |
T176A |
probably damaging |
Het |
| Kcnh6 |
C |
T |
11: 105,924,661 (GRCm39) |
S822F |
probably benign |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Lrp8 |
A |
T |
4: 107,721,206 (GRCm39) |
D602V |
probably benign |
Het |
| Med12l |
A |
G |
3: 59,139,875 (GRCm39) |
T817A |
probably damaging |
Het |
| Mroh9 |
A |
C |
1: 162,854,099 (GRCm39) |
|
probably null |
Het |
| N4bp1 |
T |
C |
8: 87,575,088 (GRCm39) |
I736V |
probably damaging |
Het |
| Nebl |
T |
C |
2: 17,397,827 (GRCm39) |
K490E |
possibly damaging |
Het |
| P2ry1 |
A |
T |
3: 60,910,999 (GRCm39) |
K46M |
probably damaging |
Het |
| Ppp1r37 |
A |
T |
7: 19,266,609 (GRCm39) |
L426H |
probably damaging |
Het |
| Prkci |
T |
A |
3: 31,085,217 (GRCm39) |
|
probably null |
Het |
| Scube2 |
C |
G |
7: 109,443,161 (GRCm39) |
C226S |
probably damaging |
Het |
| Slc26a5 |
T |
G |
5: 22,024,692 (GRCm39) |
Y469S |
probably damaging |
Het |
| Stil |
T |
A |
4: 114,889,904 (GRCm39) |
D797E |
probably benign |
Het |
| Thbs2 |
A |
T |
17: 14,910,551 (GRCm39) |
|
probably null |
Het |
| Tmem132e |
C |
A |
11: 82,325,341 (GRCm39) |
L114M |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,442,887 (GRCm39) |
T269K |
possibly damaging |
Het |
| Vmn1r173 |
T |
A |
7: 23,402,537 (GRCm39) |
C257* |
probably null |
Het |
| Zc3h15 |
G |
A |
2: 83,483,783 (GRCm39) |
G53S |
probably damaging |
Het |
| Zfp462 |
A |
C |
4: 55,013,712 (GRCm39) |
I1893L |
probably benign |
Het |
|
| Other mutations in Prss35 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01548:Prss35
|
APN |
9 |
86,637,327 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02749:Prss35
|
APN |
9 |
86,638,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0346:Prss35
|
UTSW |
9 |
86,637,404 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0403:Prss35
|
UTSW |
9 |
86,638,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1664:Prss35
|
UTSW |
9 |
86,637,700 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2016:Prss35
|
UTSW |
9 |
86,637,565 (GRCm39) |
missense |
probably benign |
0.37 |
|
R2017:Prss35
|
UTSW |
9 |
86,637,565 (GRCm39) |
missense |
probably benign |
0.37 |
|
R2429:Prss35
|
UTSW |
9 |
86,637,398 (GRCm39) |
missense |
probably benign |
|
|
R2965:Prss35
|
UTSW |
9 |
86,637,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2966:Prss35
|
UTSW |
9 |
86,637,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3961:Prss35
|
UTSW |
9 |
86,637,802 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4792:Prss35
|
UTSW |
9 |
86,637,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4902:Prss35
|
UTSW |
9 |
86,638,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6169:Prss35
|
UTSW |
9 |
86,637,491 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6446:Prss35
|
UTSW |
9 |
86,637,706 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6753:Prss35
|
UTSW |
9 |
86,638,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7008:Prss35
|
UTSW |
9 |
86,638,361 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7387:Prss35
|
UTSW |
9 |
86,637,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7523:Prss35
|
UTSW |
9 |
86,637,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7587:Prss35
|
UTSW |
9 |
86,637,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7652:Prss35
|
UTSW |
9 |
86,638,023 (GRCm39) |
missense |
probably benign |
|
|
R8013:Prss35
|
UTSW |
9 |
86,637,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8194:Prss35
|
UTSW |
9 |
86,637,666 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8871:Prss35
|
UTSW |
9 |
86,637,244 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9444:Prss35
|
UTSW |
9 |
86,638,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9462:Prss35
|
UTSW |
9 |
86,638,392 (GRCm39) |
missense |
|
|
|
R9695:Prss35
|
UTSW |
9 |
86,637,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTCTGGATTTGACAACGACAG -3'
(R):5'- TGCATAGCTCATGAGTGGTC -3'
Sequencing Primer
(F):5'- CAGGGATGAACAGTTGGTGTATC -3'
(R):5'- CATAGCTCATGAGTGGTCTCTCAATG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation