Incidental Mutation 'RF057:Prp2'
ID |
605301 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prp2
|
Ensembl Gene |
ENSMUSG00000058295 |
Gene Name |
proline rich protein 2 |
Synonyms |
MP14 |
Accession Numbers |
|
Essential gene? |
Not available
|
Stock # |
RF057 (G1)
|
Quality Score |
213.49 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
132572874-132577665 bp(+) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
CACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCA to C
at 132577493 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135942
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076061]
[ENSMUST00000178961]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000076061
|
SMART Domains |
Protein: ENSMUSP00000075435 Gene: ENSMUSG00000058295
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
low complexity region
|
24 |
44 |
N/A |
INTRINSIC |
low complexity region
|
49 |
299 |
N/A |
INTRINSIC |
low complexity region
|
302 |
316 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000178961
|
SMART Domains |
Protein: ENSMUSP00000135942 Gene: ENSMUSG00000058295
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
low complexity region
|
24 |
44 |
N/A |
INTRINSIC |
low complexity region
|
49 |
299 |
N/A |
INTRINSIC |
low complexity region
|
302 |
316 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 99.3%
- 20x: 98.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the heterogeneous family of proline-rich salivary glycoproteins. The expression of this gene is dramatically induced in the parotid and submandibular glands of mice by beta-adrenergic stimulation. The encoded protein serves an important dental function by protecting mice against toxic dietary polyphenols such as tannins and influence the visco-elastic properties of the mucus. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 6. [provided by RefSeq, Nov 2015]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030445D17Rik |
GCACATGCACACACA |
GCACA |
4: 136,189,617 (GRCm39) |
|
probably null |
Het |
Alpk3 |
AAGGCACCGAC |
A |
7: 80,742,165 (GRCm39) |
|
probably null |
Het |
Ankhd1 |
CGGC |
CGGCGGTGGC |
18: 36,693,982 (GRCm39) |
|
probably benign |
Het |
Calhm1 |
GCTGTGGC |
GCTGTGGCTGTGTCTGTGGC |
19: 47,129,709 (GRCm39) |
|
probably benign |
Het |
Crtam |
TTCTTGATCTGAA |
T |
9: 40,895,650 (GRCm39) |
|
probably null |
Het |
Cul9 |
CCT |
CCTACT |
17: 46,811,789 (GRCm39) |
|
probably null |
Het |
Dmkn |
GAAGTGGTGGAAGTGGTGG |
GAAGTGGTGGAAGTGGTGGAAGTGGTGTAAGTGGTGGAAGTGGTGG |
7: 30,466,613 (GRCm39) |
|
probably benign |
Het |
Efhd2 |
CGCCG |
CGCCGAAGCCG |
4: 141,602,080 (GRCm39) |
|
probably benign |
Het |
Eps8 |
CGCTC |
CGCTCGCTC |
6: 137,494,062 (GRCm39) |
|
probably benign |
Het |
Garin5a |
GGAGGA |
GGAGGAAGGCTGGATCCTGGATACCTGGGTCTGAGTGAGGA |
7: 44,149,956 (GRCm39) |
|
probably null |
Het |
Gm16519 |
AAGCAG |
AAGCAGCAG |
17: 71,236,326 (GRCm39) |
|
probably benign |
Het |
Krt10 |
CGCC |
CGCCGCC |
11: 99,277,025 (GRCm39) |
|
probably benign |
Het |
Lypd8 |
CCAACA |
CCAACAGTTCCCTCGCCTCTGTTACCCCACAAATCAACAACA |
11: 58,281,065 (GRCm39) |
|
probably benign |
Het |
Mapk6 |
CCCCA |
CCCCATCCCA |
9: 75,295,540 (GRCm39) |
|
probably null |
Het |
Med12l |
GCA |
GCATCA |
3: 59,183,401 (GRCm39) |
|
probably benign |
Het |
Morn4 |
GTCAGGCAGTGA |
GTCAGGCAGTGACTCAGGCAGTGA |
19: 42,064,545 (GRCm39) |
|
probably null |
Het |
Pdik1l |
TTTTTGTTTT |
TTTTTGTTTTGGTTTTGTTTT |
4: 134,006,679 (GRCm39) |
|
probably null |
Het |
Rtbdn |
GCAGCG |
GCAGCGACAGCG |
8: 85,682,795 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
TTTCCCAGAGATCCCCTTGGC |
TTTCCCAGAGATCCCCTTGGCTGCTGAGATGGGCACCTTCCCAGAGATCCCCTTGGC |
18: 60,966,636 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
GAGATCCCCTTGGC |
GAGATCCCCTTGGCTGCTGAGATGGGCACTTTCCCATAGATCCCCTTGGC |
18: 60,966,643 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
TCCCAGAGATCCCCTTGGC |
TCCCAGAGATCCCCTTGGCTGCTGAGATGGGCACTTGCCCAGAGATCCCCTTGGC |
18: 60,966,638 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
TTCCCAGAGATCCCCTTGGC |
TTCCCAGAGATCCCCTTGGCTGCTGAGATGGGCACTGTCCCAGAGATCCCCTTGGC |
18: 60,966,637 (GRCm39) |
|
probably benign |
Het |
Tgoln1 |
CAGAAT |
CAGAATCACCTCCCGTGGGCTTGCGAGAAT |
6: 72,593,052 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
TGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
15: 72,673,144 (GRCm39) |
|
probably benign |
Het |
Ttn |
ACCTCCTCCTCCTCCTCCTC |
ACCTCCTCCTCCTCCTC |
2: 76,673,734 (GRCm39) |
|
probably benign |
Het |
Zfp384 |
C |
CCCAGGCCCAGGG |
6: 125,013,459 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Prp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01383:Prp2
|
APN |
6 |
132,576,841 (GRCm39) |
missense |
unknown |
|
IGL02951:Prp2
|
APN |
6 |
132,576,788 (GRCm39) |
missense |
unknown |
|
PIT4458001:Prp2
|
UTSW |
6 |
132,577,510 (GRCm39) |
missense |
unknown |
|
R2034:Prp2
|
UTSW |
6 |
132,572,947 (GRCm39) |
splice site |
probably null |
|
R2432:Prp2
|
UTSW |
6 |
132,576,874 (GRCm39) |
missense |
unknown |
|
R5283:Prp2
|
UTSW |
6 |
132,577,606 (GRCm39) |
missense |
unknown |
|
R7761:Prp2
|
UTSW |
6 |
132,577,306 (GRCm39) |
nonsense |
probably null |
|
R7877:Prp2
|
UTSW |
6 |
132,572,928 (GRCm39) |
missense |
unknown |
|
R8033:Prp2
|
UTSW |
6 |
132,577,391 (GRCm39) |
missense |
unknown |
|
R8062:Prp2
|
UTSW |
6 |
132,577,651 (GRCm39) |
missense |
unknown |
|
R8695:Prp2
|
UTSW |
6 |
132,576,932 (GRCm39) |
missense |
unknown |
|
R8696:Prp2
|
UTSW |
6 |
132,577,322 (GRCm39) |
missense |
unknown |
|
R8938:Prp2
|
UTSW |
6 |
132,577,581 (GRCm39) |
missense |
unknown |
|
RF005:Prp2
|
UTSW |
6 |
132,577,464 (GRCm39) |
small deletion |
probably benign |
|
RF016:Prp2
|
UTSW |
6 |
132,577,475 (GRCm39) |
small deletion |
probably benign |
|
RF039:Prp2
|
UTSW |
6 |
132,577,464 (GRCm39) |
small deletion |
probably benign |
|
RF052:Prp2
|
UTSW |
6 |
132,577,475 (GRCm39) |
small deletion |
probably benign |
|
RF054:Prp2
|
UTSW |
6 |
132,577,484 (GRCm39) |
frame shift |
probably null |
|
X0053:Prp2
|
UTSW |
6 |
132,577,559 (GRCm39) |
missense |
unknown |
|
Z1176:Prp2
|
UTSW |
6 |
132,577,200 (GRCm39) |
missense |
unknown |
|
Z1177:Prp2
|
UTSW |
6 |
132,572,933 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGCAGCGATACCCTCAAAGC -3'
(R):5'- AAGGGGATAACAATGAGTCATACCT -3'
Sequencing Primer
(F):5'- GCCCACCACCACCAGGAG -3'
(R):5'- AATGAGTCATACCTGTCACGG -3'
|
Posted On |
2019-12-04 |