Incidental Mutation 'R0019:Pycr3'
| ID |
201357 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pycr3
|
| Ensembl Gene |
ENSMUSG00000022571 |
| Gene Name |
pyrroline-5-carboxylate reductase 3 |
| Synonyms |
1110058B13Rik, 2700073G24Rik, Pycrl |
| MMRRC Submission |
038314-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
R0019 (G1)
|
| Quality Score |
35 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
75788319-75793369 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 75791155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141473
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053918]
[ENSMUST00000192937]
|
| AlphaFold |
Q9DCC4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053918
|
| SMART Domains |
Protein: ENSMUSP00000049605
Gene: ENSMUSG00000022571
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F420_oxidored
|
10 |
104 |
1.2e-17 |
PFAM |
|
Pfam:P5CR_dimer
|
166 |
270 |
5.2e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192937
|
| SMART Domains |
Protein: ENSMUSP00000141473
Gene: ENSMUSG00000103906
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
55 |
N/A |
INTRINSIC |
|
Pfam:CENP-B_N
|
63 |
112 |
1.6e-10 |
PFAM |
|
CENPB
|
128 |
195 |
1.41e-13 |
SMART |
|
Pfam:DDE_1
|
238 |
377 |
8.2e-21 |
PFAM |
|
low complexity region
|
554 |
567 |
N/A |
INTRINSIC |
|
low complexity region
|
569 |
582 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.0%
|
| Validation Efficiency |
98% (43/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the pyrroline-5-carboxylate reductase family of enzymes. Members of this family catalyze the final step in proline biosynthesis, converting pyrroline-5-carboxylate to proline. Glutamate and ornithine are precursors in the synthesis of proline. The protein encoded by this gene is a cytoplasmic enzyme involved in the biosynthesis of proline from ornithine. [provided by RefSeq, Aug 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl1 |
T |
A |
8: 46,974,287 (GRCm39) |
|
probably null |
Het |
| Ankrd13a |
T |
A |
5: 114,924,142 (GRCm39) |
|
probably benign |
Het |
| D130043K22Rik |
T |
A |
13: 25,064,795 (GRCm39) |
V737D |
probably damaging |
Het |
| Dhx37 |
C |
A |
5: 125,507,098 (GRCm39) |
G133C |
probably benign |
Het |
| Espl1 |
A |
C |
15: 102,214,754 (GRCm39) |
Q765P |
probably null |
Het |
| Fasn |
A |
T |
11: 120,698,824 (GRCm39) |
|
probably benign |
Het |
| Fshb |
T |
C |
2: 106,887,690 (GRCm39) |
S110G |
probably benign |
Het |
| Gsap |
T |
C |
5: 21,475,620 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
C |
A |
2: 180,874,552 (GRCm39) |
G1981C |
probably damaging |
Het |
| Herc3 |
T |
C |
6: 58,862,050 (GRCm39) |
|
probably benign |
Het |
| Il1r2 |
C |
T |
1: 40,164,210 (GRCm39) |
T359M |
probably damaging |
Het |
| Lrig1 |
T |
A |
6: 94,584,330 (GRCm39) |
R905* |
probably null |
Het |
| Myh7 |
T |
A |
14: 55,221,191 (GRCm39) |
N911Y |
possibly damaging |
Het |
| Nfatc1 |
C |
A |
18: 80,678,719 (GRCm39) |
V890L |
probably benign |
Het |
| Pcolce2 |
A |
G |
9: 95,577,017 (GRCm39) |
|
probably null |
Het |
| Pdcl |
A |
T |
2: 37,241,932 (GRCm39) |
L273M |
probably damaging |
Het |
| Rlf |
A |
G |
4: 121,003,769 (GRCm39) |
V1737A |
possibly damaging |
Het |
| Sstr1 |
T |
C |
12: 58,259,935 (GRCm39) |
L186S |
probably damaging |
Het |
| Trim69 |
A |
T |
2: 122,004,958 (GRCm39) |
|
probably null |
Het |
| Trim80 |
T |
G |
11: 115,338,768 (GRCm39) |
Y533D |
probably damaging |
Het |
| Unc13b |
T |
C |
4: 43,096,990 (GRCm39) |
I121T |
possibly damaging |
Het |
| Vinac1 |
G |
T |
2: 128,880,946 (GRCm39) |
H327N |
probably benign |
Het |
| Ywhab |
T |
A |
2: 163,858,090 (GRCm39) |
I219N |
probably damaging |
Het |
| Zfp560 |
G |
A |
9: 20,259,656 (GRCm39) |
S402L |
probably benign |
Het |
| Zfp943 |
C |
T |
17: 22,211,070 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Pycr3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01514:Pycr3
|
APN |
15 |
75,788,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02738:Pycr3
|
APN |
15 |
75,790,565 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0426:Pycr3
|
UTSW |
15 |
75,790,237 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1183:Pycr3
|
UTSW |
15 |
75,790,647 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2041:Pycr3
|
UTSW |
15 |
75,791,144 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4289:Pycr3
|
UTSW |
15 |
75,790,655 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4346:Pycr3
|
UTSW |
15 |
75,790,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7131:Pycr3
|
UTSW |
15 |
75,790,544 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7775:Pycr3
|
UTSW |
15 |
75,790,138 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7778:Pycr3
|
UTSW |
15 |
75,790,138 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9329:Pycr3
|
UTSW |
15 |
75,790,563 (GRCm39) |
missense |
probably benign |
0.44 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGAGTAGTCTGGCAACCCAGAG -3'
(R):5'- TGGTCCCAGTGTCCAACAGAAACG -3'
Sequencing Primer
(F):5'- TGTGTGAGGCAGCATCCTAC -3'
(R):5'- TCCAACAGAAACGGCAGTG -3'
|
| Posted On |
2014-06-02 |
Incidental Mutation