Incidental Mutation 'R3925:Prim2'
| ID |
308228 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prim2
|
| Ensembl Gene |
ENSMUSG00000026134 |
| Gene Name |
DNA primase, p58 subunit |
| Synonyms |
|
| MMRRC Submission |
040916-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.945)
|
| Stock # |
R3925 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
33492891-33708876 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33572380 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 253
(L253P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027312]
|
| AlphaFold |
P33610 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027312
AA Change: L253P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027312
Gene: ENSMUSG00000026134
AA Change: L253P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DNA_primase_lrg
|
182 |
448 |
6.2e-99 |
PFAM |
|
low complexity region
|
482 |
503 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189552
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
97% (30/31) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the 58 kilodalton subunit of DNA primase, an enzyme that plays a key role in the replication of DNA. The encoded protein forms a heterodimer with a 49 kilodalton subunit. This heterodimer functions as a DNA-directed RNA polymerase to synthesize small RNA primers that are used to create Okazaki fragments on the lagging strand of the DNA. Alternative splicing of this gene results in multiple transcript variants. This gene has a related pseudogene, which is also present on chromosome 6. [provided by RefSeq, Apr 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
G |
A |
13: 81,726,891 (GRCm39) |
T487I |
possibly damaging |
Het |
| Amn |
T |
C |
12: 111,242,114 (GRCm39) |
V367A |
possibly damaging |
Het |
| Becn2 |
T |
C |
1: 175,748,852 (GRCm39) |
V306A |
probably benign |
Het |
| C230029F24Rik |
AGAAAG |
A |
1: 49,350,088 (GRCm39) |
|
noncoding transcript |
Het |
| Cdkl1 |
G |
T |
12: 69,803,373 (GRCm39) |
R168S |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,785,555 (GRCm39) |
K445R |
probably benign |
Het |
| Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
| Eif4e |
G |
A |
3: 138,261,198 (GRCm39) |
G164D |
probably damaging |
Het |
| Eno1 |
T |
C |
4: 150,324,025 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
G |
A |
2: 31,343,169 (GRCm39) |
R4565Q |
probably benign |
Het |
| Itgal |
A |
T |
7: 126,923,709 (GRCm39) |
|
probably benign |
Het |
| Klhl1 |
A |
T |
14: 96,584,316 (GRCm39) |
C305S |
possibly damaging |
Het |
| Ms4a2 |
A |
G |
19: 11,596,312 (GRCm39) |
M139T |
probably benign |
Het |
| Nr2e3 |
C |
T |
9: 59,855,716 (GRCm39) |
R213H |
probably damaging |
Het |
| Onecut2 |
A |
G |
18: 64,474,591 (GRCm39) |
K381E |
probably damaging |
Het |
| Or2t43 |
T |
A |
11: 58,457,652 (GRCm39) |
H173L |
probably benign |
Het |
| Or52n1 |
T |
A |
7: 104,383,396 (GRCm39) |
E58D |
probably benign |
Het |
| Or5t17 |
A |
G |
2: 86,832,718 (GRCm39) |
Y135C |
possibly damaging |
Het |
| Pabpc1l |
T |
A |
2: 163,869,596 (GRCm39) |
|
probably benign |
Het |
| Pycr1 |
T |
C |
11: 120,532,961 (GRCm39) |
T100A |
probably benign |
Het |
| Qrfpr |
T |
C |
3: 36,276,072 (GRCm39) |
N106S |
possibly damaging |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Selenoi |
T |
A |
5: 30,461,086 (GRCm39) |
D107E |
probably damaging |
Het |
| Synrg |
C |
T |
11: 83,931,725 (GRCm39) |
P1321S |
probably benign |
Het |
| Trgv7 |
A |
G |
13: 19,362,644 (GRCm39) |
Y111C |
probably damaging |
Het |
| Trp53rkb |
A |
G |
2: 166,637,392 (GRCm39) |
Y116C |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,293,640 (GRCm39) |
F245I |
probably benign |
Het |
| Utrn |
C |
T |
10: 12,573,786 (GRCm39) |
V1095I |
probably benign |
Het |
| Xpnpep1 |
T |
C |
19: 52,980,128 (GRCm39) |
H632R |
probably damaging |
Het |
| Zfp735 |
T |
C |
11: 73,601,950 (GRCm39) |
I298T |
probably benign |
Het |
| Zfp953 |
T |
A |
13: 67,496,002 (GRCm39) |
Y13F |
probably damaging |
Het |
|
| Other mutations in Prim2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00921:Prim2
|
APN |
1 |
33,551,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02576:Prim2
|
APN |
1 |
33,523,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0398:Prim2
|
UTSW |
1 |
33,523,757 (GRCm39) |
splice site |
probably benign |
|
|
R0686:Prim2
|
UTSW |
1 |
33,553,270 (GRCm39) |
missense |
probably benign |
|
|
R1452:Prim2
|
UTSW |
1 |
33,669,485 (GRCm39) |
missense |
probably benign |
|
|
R4398:Prim2
|
UTSW |
1 |
33,551,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4831:Prim2
|
UTSW |
1 |
33,709,217 (GRCm39) |
unclassified |
probably benign |
|
|
R4832:Prim2
|
UTSW |
1 |
33,503,145 (GRCm39) |
missense |
probably benign |
|
|
R5057:Prim2
|
UTSW |
1 |
33,669,441 (GRCm39) |
nonsense |
probably null |
|
|
R5240:Prim2
|
UTSW |
1 |
33,519,397 (GRCm39) |
intron |
probably benign |
|
|
R5294:Prim2
|
UTSW |
1 |
33,707,974 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5771:Prim2
|
UTSW |
1 |
33,493,232 (GRCm39) |
missense |
unknown |
|
|
R5807:Prim2
|
UTSW |
1 |
33,519,487 (GRCm39) |
intron |
probably benign |
|
|
R6307:Prim2
|
UTSW |
1 |
33,701,373 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7165:Prim2
|
UTSW |
1 |
33,667,474 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8904:Prim2
|
UTSW |
1 |
33,669,513 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9435:Prim2
|
UTSW |
1 |
33,523,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACCTGAGATCAAATAGTCAGGAG -3'
(R):5'- ATTTGTGCATGGCCTCCCTG -3'
Sequencing Primer
(F):5'- ACATAGATATACATATGCACTGTGTG -3'
(R):5'- GGCTGCCTCCCCTCCTTAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation