Incidental Mutation 'R9439:Plod3'
ID |
713426 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plod3
|
Ensembl Gene |
ENSMUSG00000004846 |
Gene Name |
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 |
Synonyms |
LH3, lysyl hydroxylase 3 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9439 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
137015873-137025500 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 137023036 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 613
(V613I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000004968
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004968]
|
AlphaFold |
Q9R0E1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000004968
AA Change: V613I
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000004968 Gene: ENSMUSG00000004846 AA Change: V613I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
low complexity region
|
312 |
324 |
N/A |
INTRINSIC |
Blast:P4Hc
|
456 |
502 |
2e-8 |
BLAST |
P4Hc
|
567 |
740 |
1.43e-23 |
SMART |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000123550 Gene: ENSMUSG00000004846 AA Change: V83I
Domain | Start | End | E-Value | Type |
Blast:P4Hc
|
2 |
35 |
2e-11 |
BLAST |
P4Hc
|
38 |
200 |
3.04e-4 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mice display embryonic lethality, reduced embryonic growth, fragility, and fragmented basement membranes. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
T |
3: 137,772,048 (GRCm39) |
E412D |
probably benign |
Het |
Aak1 |
T |
A |
6: 86,933,274 (GRCm39) |
V415D |
probably damaging |
Het |
Ache |
A |
C |
5: 137,289,185 (GRCm39) |
D297A |
probably damaging |
Het |
Armc9 |
T |
C |
1: 86,084,687 (GRCm39) |
I4T |
possibly damaging |
Het |
Atp8b2 |
T |
A |
3: 89,851,492 (GRCm39) |
Y925F |
|
Het |
Avpr1b |
T |
C |
1: 131,528,029 (GRCm39) |
L184P |
probably damaging |
Het |
Cabin1 |
G |
A |
10: 75,581,069 (GRCm39) |
P419L |
probably damaging |
Het |
Ccdc88c |
T |
C |
12: 100,884,597 (GRCm39) |
S1578G |
probably benign |
Het |
Ccnd2 |
A |
T |
6: 127,127,617 (GRCm39) |
C40* |
probably null |
Het |
Col6a3 |
A |
T |
1: 90,744,155 (GRCm39) |
I471N |
probably damaging |
Het |
Cp |
A |
G |
3: 20,046,671 (GRCm39) |
|
probably null |
Het |
Cyfip2 |
C |
T |
11: 46,091,668 (GRCm39) |
R1084Q |
probably damaging |
Het |
Diaph1 |
A |
G |
18: 38,029,412 (GRCm39) |
|
probably null |
Het |
Dnah6 |
T |
C |
6: 73,012,330 (GRCm39) |
N3713S |
possibly damaging |
Het |
Dot1l |
G |
T |
10: 80,621,438 (GRCm39) |
R633L |
possibly damaging |
Het |
Ehmt1 |
A |
T |
2: 24,715,030 (GRCm39) |
M809K |
probably damaging |
Het |
Fcgbp |
C |
A |
7: 27,803,436 (GRCm39) |
A1680E |
possibly damaging |
Het |
Flt1 |
A |
G |
5: 147,515,207 (GRCm39) |
F1072L |
probably damaging |
Het |
Gm19410 |
G |
T |
8: 36,248,810 (GRCm39) |
A549S |
probably damaging |
Het |
Gm57859 |
C |
T |
11: 113,583,229 (GRCm39) |
Q519* |
probably null |
Het |
Gnat1 |
A |
T |
9: 107,553,511 (GRCm39) |
I249N |
|
Het |
Gp2 |
T |
C |
7: 119,053,433 (GRCm39) |
Y176C |
probably damaging |
Het |
Gpc2 |
G |
T |
5: 138,277,248 (GRCm39) |
Q60K |
probably benign |
Het |
Gpsm2 |
T |
A |
3: 108,610,397 (GRCm39) |
E21V |
probably damaging |
Het |
Igkv4-80 |
T |
A |
6: 68,993,793 (GRCm39) |
M33L |
probably benign |
Het |
Il20ra |
C |
A |
10: 19,618,751 (GRCm39) |
H66Q |
probably benign |
Het |
Kap |
C |
T |
6: 133,828,950 (GRCm39) |
D61N |
probably benign |
Het |
Magi3 |
C |
T |
3: 103,922,473 (GRCm39) |
A1415T |
probably benign |
Het |
Mpp7 |
A |
T |
18: 7,461,692 (GRCm39) |
Y60* |
probably null |
Het |
Neil1 |
T |
A |
9: 57,051,098 (GRCm39) |
R294* |
probably null |
Het |
Nkx6-3 |
A |
G |
8: 23,643,778 (GRCm39) |
S60G |
probably benign |
Het |
Noc2l |
T |
A |
4: 156,326,130 (GRCm39) |
S406T |
possibly damaging |
Het |
Or11m3 |
T |
C |
15: 98,396,247 (GRCm39) |
V298A |
possibly damaging |
Het |
Or14j2 |
A |
G |
17: 37,885,825 (GRCm39) |
I163T |
probably benign |
Het |
Or2h2c |
A |
G |
17: 37,422,205 (GRCm39) |
V223A |
probably damaging |
Het |
Or2t46 |
T |
C |
11: 58,472,104 (GRCm39) |
C145R |
probably benign |
Het |
Or51ac3 |
T |
G |
7: 103,214,049 (GRCm39) |
I146L |
probably benign |
Het |
Or5p81 |
T |
C |
7: 108,266,626 (GRCm39) |
M1T |
probably null |
Het |
Paqr4 |
A |
G |
17: 23,958,939 (GRCm39) |
F21L |
probably damaging |
Het |
Pcdha9 |
A |
G |
18: 37,131,527 (GRCm39) |
T199A |
probably benign |
Het |
Pcdhgb7 |
T |
C |
18: 37,884,917 (GRCm39) |
L29P |
probably benign |
Het |
Pfkl |
G |
A |
10: 77,831,172 (GRCm39) |
A323V |
probably damaging |
Het |
Pik3r4 |
C |
A |
9: 105,528,041 (GRCm39) |
P465T |
probably damaging |
Het |
Pitpnm2 |
A |
G |
5: 124,274,189 (GRCm39) |
S307P |
probably damaging |
Het |
Pitpnm2 |
A |
G |
5: 124,278,659 (GRCm39) |
Y191H |
probably damaging |
Het |
Prr23a2 |
C |
T |
9: 98,738,921 (GRCm39) |
T93I |
probably damaging |
Het |
Ptk6 |
T |
A |
2: 180,840,206 (GRCm39) |
M267L |
possibly damaging |
Het |
Rabl6 |
C |
T |
2: 25,492,432 (GRCm39) |
|
probably null |
Het |
Ralgapa2 |
T |
C |
2: 146,254,058 (GRCm39) |
H787R |
probably benign |
Het |
Rfx8 |
T |
G |
1: 39,724,669 (GRCm39) |
M231L |
probably benign |
Het |
Rnf126 |
A |
T |
10: 79,597,465 (GRCm39) |
I149N |
probably damaging |
Het |
Smpd4 |
A |
G |
16: 17,459,451 (GRCm39) |
I625V |
probably benign |
Het |
Tcf7l1 |
A |
G |
6: 72,765,740 (GRCm39) |
S66P |
probably damaging |
Het |
Tsc22d1 |
G |
A |
14: 76,743,899 (GRCm39) |
V1007M |
probably damaging |
Het |
Tspoap1 |
C |
T |
11: 87,665,535 (GRCm39) |
R758C |
probably damaging |
Het |
Vmn1r210 |
A |
C |
13: 23,011,397 (GRCm39) |
H296Q |
possibly damaging |
Het |
Zfp532 |
G |
A |
18: 65,818,714 (GRCm39) |
V857I |
probably benign |
Het |
Zfyve9 |
T |
C |
4: 108,501,538 (GRCm39) |
T593A |
probably benign |
Het |
|
Other mutations in Plod3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00507:Plod3
|
APN |
5 |
137,025,030 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL01090:Plod3
|
APN |
5 |
137,019,090 (GRCm39) |
missense |
probably benign |
0.37 |
IGL01443:Plod3
|
APN |
5 |
137,019,075 (GRCm39) |
missense |
probably benign |
0.17 |
IGL01583:Plod3
|
APN |
5 |
137,025,002 (GRCm39) |
missense |
probably benign |
0.02 |
R0544:Plod3
|
UTSW |
5 |
137,020,465 (GRCm39) |
missense |
probably benign |
0.09 |
R0747:Plod3
|
UTSW |
5 |
137,017,049 (GRCm39) |
missense |
probably benign |
0.34 |
R0764:Plod3
|
UTSW |
5 |
137,018,437 (GRCm39) |
unclassified |
probably benign |
|
R1520:Plod3
|
UTSW |
5 |
137,020,165 (GRCm39) |
missense |
probably damaging |
0.99 |
R1631:Plod3
|
UTSW |
5 |
137,017,847 (GRCm39) |
missense |
probably damaging |
1.00 |
R1751:Plod3
|
UTSW |
5 |
137,019,030 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1767:Plod3
|
UTSW |
5 |
137,019,030 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1984:Plod3
|
UTSW |
5 |
137,019,707 (GRCm39) |
splice site |
probably null |
|
R1985:Plod3
|
UTSW |
5 |
137,019,707 (GRCm39) |
splice site |
probably null |
|
R2137:Plod3
|
UTSW |
5 |
137,017,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R2148:Plod3
|
UTSW |
5 |
137,016,627 (GRCm39) |
nonsense |
probably null |
|
R2179:Plod3
|
UTSW |
5 |
137,019,862 (GRCm39) |
missense |
possibly damaging |
0.77 |
R2318:Plod3
|
UTSW |
5 |
137,017,000 (GRCm39) |
missense |
probably benign |
0.38 |
R2319:Plod3
|
UTSW |
5 |
137,017,000 (GRCm39) |
missense |
probably benign |
0.38 |
R2512:Plod3
|
UTSW |
5 |
137,017,000 (GRCm39) |
missense |
probably benign |
0.38 |
R2513:Plod3
|
UTSW |
5 |
137,017,000 (GRCm39) |
missense |
probably benign |
0.38 |
R2696:Plod3
|
UTSW |
5 |
137,017,000 (GRCm39) |
missense |
probably benign |
0.38 |
R2891:Plod3
|
UTSW |
5 |
137,017,000 (GRCm39) |
missense |
probably benign |
0.38 |
R2893:Plod3
|
UTSW |
5 |
137,017,000 (GRCm39) |
missense |
probably benign |
0.38 |
R3030:Plod3
|
UTSW |
5 |
137,017,000 (GRCm39) |
missense |
probably benign |
0.38 |
R3439:Plod3
|
UTSW |
5 |
137,017,000 (GRCm39) |
missense |
probably benign |
0.38 |
R3957:Plod3
|
UTSW |
5 |
137,023,046 (GRCm39) |
missense |
probably damaging |
1.00 |
R4080:Plod3
|
UTSW |
5 |
137,017,000 (GRCm39) |
missense |
probably benign |
0.38 |
R4081:Plod3
|
UTSW |
5 |
137,017,000 (GRCm39) |
missense |
probably benign |
0.38 |
R4342:Plod3
|
UTSW |
5 |
137,017,000 (GRCm39) |
missense |
probably benign |
0.38 |
R4344:Plod3
|
UTSW |
5 |
137,017,000 (GRCm39) |
missense |
probably benign |
0.38 |
R4345:Plod3
|
UTSW |
5 |
137,017,000 (GRCm39) |
missense |
probably benign |
0.38 |
R4546:Plod3
|
UTSW |
5 |
137,017,801 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4799:Plod3
|
UTSW |
5 |
137,019,654 (GRCm39) |
missense |
probably benign |
0.00 |
R4843:Plod3
|
UTSW |
5 |
137,019,854 (GRCm39) |
nonsense |
probably null |
|
R4956:Plod3
|
UTSW |
5 |
137,018,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R5159:Plod3
|
UTSW |
5 |
137,023,932 (GRCm39) |
intron |
probably benign |
|
R5162:Plod3
|
UTSW |
5 |
137,020,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R5328:Plod3
|
UTSW |
5 |
137,018,537 (GRCm39) |
missense |
probably damaging |
1.00 |
R5427:Plod3
|
UTSW |
5 |
137,020,642 (GRCm39) |
missense |
probably damaging |
1.00 |
R6627:Plod3
|
UTSW |
5 |
137,017,310 (GRCm39) |
missense |
probably damaging |
0.99 |
R7003:Plod3
|
UTSW |
5 |
137,018,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R7132:Plod3
|
UTSW |
5 |
137,023,971 (GRCm39) |
missense |
|
|
R7376:Plod3
|
UTSW |
5 |
137,019,335 (GRCm39) |
missense |
probably benign |
0.00 |
R7404:Plod3
|
UTSW |
5 |
137,023,901 (GRCm39) |
missense |
probably benign |
|
R7827:Plod3
|
UTSW |
5 |
137,018,835 (GRCm39) |
missense |
probably benign |
|
R8062:Plod3
|
UTSW |
5 |
137,019,123 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8506:Plod3
|
UTSW |
5 |
137,017,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R8772:Plod3
|
UTSW |
5 |
137,017,773 (GRCm39) |
missense |
probably damaging |
0.99 |
R9108:Plod3
|
UTSW |
5 |
137,018,017 (GRCm39) |
missense |
probably damaging |
0.99 |
R9788:Plod3
|
UTSW |
5 |
137,019,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GATGTCACAGACAGAAAGAGACTCC -3'
(R):5'- ATAGAGCCTTCCGAGACTGG -3'
Sequencing Primer
(F):5'- GGTGAATCTCTAAGTTCAAGCCCAG -3'
(R):5'- CTTCCGAGACTGGGGTACAAG -3'
|
Posted On |
2022-05-16 |