Incidental Mutation 'R5188:Prh1'
| ID |
398013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prh1
|
| Ensembl Gene |
ENSMUSG00000059934 |
| Gene Name |
proline rich protein HaeIII subfamily 1 |
| Synonyms |
Prp, MP2, A-type |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R5188 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
132546805-132549364 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 132548670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 59
(Q59R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135877
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074042]
[ENSMUST00000111972]
[ENSMUST00000177523]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000074042
AA Change: Q59R
|
| SMART Domains |
Protein: ENSMUSP00000073689
Gene: ENSMUSG00000059934
AA Change: Q59R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
20 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
244 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
261 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000111972
AA Change: Q59R
|
| SMART Domains |
Protein: ENSMUSP00000107603
Gene: ENSMUSG00000059934
AA Change: Q59R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
20 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
278 |
289 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000177523
AA Change: Q59R
|
| SMART Domains |
Protein: ENSMUSP00000135877
Gene: ENSMUSG00000059934
AA Change: Q59R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pro-rich
|
1 |
88 |
3.7e-9 |
PFAM |
|
low complexity region
|
278 |
289 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Abca12 |
T |
A |
1: 71,330,651 (GRCm39) |
I1335F |
probably benign |
Het |
| Amigo3 |
C |
A |
9: 107,931,882 (GRCm39) |
A435E |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,803,778 (GRCm39) |
N1871K |
probably benign |
Het |
| Ctsw |
C |
T |
19: 5,517,120 (GRCm39) |
A71T |
probably damaging |
Het |
| Decr1 |
C |
T |
4: 15,924,270 (GRCm39) |
V217M |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,738,827 (GRCm39) |
T2389A |
probably benign |
Het |
| Gpr151 |
A |
G |
18: 42,711,820 (GRCm39) |
M286T |
probably benign |
Het |
| Katnbl1 |
T |
A |
2: 112,240,499 (GRCm39) |
I262N |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,443,821 (GRCm39) |
C149R |
probably damaging |
Het |
| Mpc1 |
A |
T |
17: 8,515,215 (GRCm39) |
|
probably benign |
Het |
| Ndufv1 |
A |
T |
19: 4,059,988 (GRCm39) |
N37K |
probably damaging |
Het |
| Or1n1b |
T |
A |
2: 36,780,405 (GRCm39) |
I152L |
probably benign |
Het |
| Or5af2 |
C |
A |
11: 58,708,146 (GRCm39) |
T104K |
probably damaging |
Het |
| Or8g50 |
T |
C |
9: 39,648,531 (GRCm39) |
V140A |
probably benign |
Het |
| Or8k1 |
T |
G |
2: 86,047,521 (GRCm39) |
S178R |
probably benign |
Het |
| Pnpla7 |
C |
A |
2: 24,887,312 (GRCm39) |
P52Q |
probably benign |
Het |
| Ren1 |
A |
G |
1: 133,278,351 (GRCm39) |
|
probably benign |
Het |
| Rnf148 |
T |
C |
6: 23,654,139 (GRCm39) |
T286A |
probably damaging |
Het |
| Sdk1 |
T |
C |
5: 141,942,015 (GRCm39) |
|
probably null |
Het |
| Srp72 |
T |
A |
5: 77,122,598 (GRCm39) |
S10T |
possibly damaging |
Het |
| Stk11 |
G |
T |
10: 79,962,113 (GRCm39) |
G215V |
probably damaging |
Het |
| Stk4 |
T |
C |
2: 163,930,828 (GRCm39) |
M143T |
possibly damaging |
Het |
| Supt20 |
T |
A |
3: 54,617,849 (GRCm39) |
S318T |
possibly damaging |
Het |
| Tchh |
G |
C |
3: 93,353,986 (GRCm39) |
R1142P |
unknown |
Het |
| Vipas39 |
G |
T |
12: 87,301,021 (GRCm39) |
R161S |
probably benign |
Het |
|
| Other mutations in Prh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02635:Prh1
|
APN |
6 |
132,549,246 (GRCm39) |
missense |
unknown |
|
|
R0583:Prh1
|
UTSW |
6 |
132,548,796 (GRCm39) |
missense |
unknown |
|
|
R4434:Prh1
|
UTSW |
6 |
132,548,841 (GRCm39) |
missense |
unknown |
|
|
R5868:Prh1
|
UTSW |
6 |
132,549,174 (GRCm39) |
missense |
unknown |
|
|
R6522:Prh1
|
UTSW |
6 |
132,548,996 (GRCm39) |
missense |
unknown |
|
|
R7293:Prh1
|
UTSW |
6 |
132,548,721 (GRCm39) |
missense |
unknown |
|
|
R8084:Prh1
|
UTSW |
6 |
132,548,822 (GRCm39) |
missense |
unknown |
|
|
R8803:Prh1
|
UTSW |
6 |
132,548,948 (GRCm39) |
missense |
unknown |
|
|
R9329:Prh1
|
UTSW |
6 |
132,548,573 (GRCm39) |
missense |
unknown |
|
|
R9365:Prh1
|
UTSW |
6 |
132,549,108 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCCATGTTTTAACGGGAG -3'
(R):5'- CTATGCTGTGGGCCTCCTG -3'
Sequencing Primer
(F):5'- AAAATGCTGTGTGGAAGGGTCATTG -3'
(R):5'- GCCTCCTGGTGGTGGTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation