Incidental Mutation 'R0722:Pcna'
| ID |
218774 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcna
|
| Ensembl Gene |
ENSMUSG00000027342 |
| Gene Name |
proliferating cell nuclear antigen |
| Synonyms |
|
| MMRRC Submission |
038904-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0722 (G1)
|
| Quality Score |
74 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
132091206-132095100 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 132093155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136826
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028816]
[ENSMUST00000028817]
[ENSMUST00000110163]
[ENSMUST00000110164]
[ENSMUST00000180286]
|
| AlphaFold |
P17918 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028816
|
| SMART Domains |
Protein: ENSMUSP00000028816
Gene: ENSMUSG00000027341
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF872
|
14 |
118 |
5.5e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028817
|
| SMART Domains |
Protein: ENSMUSP00000028817
Gene: ENSMUSG00000027342
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PCNA_N
|
1 |
125 |
1.4e-61 |
PFAM |
|
Pfam:Rad1
|
1 |
236 |
2e-10 |
PFAM |
|
Pfam:Rad9
|
12 |
245 |
1.3e-9 |
PFAM |
|
Pfam:PCNA_C
|
127 |
254 |
8.2e-66 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110163
|
| SMART Domains |
Protein: ENSMUSP00000105792
Gene: ENSMUSG00000027341
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF872
|
14 |
118 |
5.5e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110164
|
| SMART Domains |
Protein: ENSMUSP00000105793
Gene: ENSMUSG00000027341
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF872
|
14 |
118 |
5.5e-30 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124336
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135181
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136676
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140338
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141813
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143782
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149627
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180286
|
| SMART Domains |
Protein: ENSMUSP00000136826
Gene: ENSMUSG00000027341
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF872
|
3 |
118 |
1.7e-22 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 91.7%
|
| Validation Efficiency |
97% (63/65) |
| 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 found in the nucleus and is a cofactor of DNA polymerase delta. The encoded protein acts as a homotrimer and helps increase the processivity of leading strand synthesis during DNA replication. In response to DNA damage, this protein is ubiquitinated and is involved in the RAD6-dependent DNA repair pathway. Two transcript variants encoding the same protein have been found for this gene. Pseudogenes of this gene have been described on chromosome 4 and on the X chromosome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality before implantation due to defects in DNA replication. Mice homozygous for a knock-in allele show partial embryonic lethality during organogenesis, absent germ cells, infertility, and altered somatic hypermutation frequency. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(7) : Targeted, knock-out(1) Targeted, other(4) Gene trapped(2)
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adap2 |
T |
C |
11: 80,047,810 (GRCm39) |
F89L |
possibly damaging |
Het |
| Akr1c13 |
A |
G |
13: 4,247,931 (GRCm39) |
|
probably null |
Het |
| Atp10a |
A |
G |
7: 58,465,931 (GRCm39) |
I1053V |
possibly damaging |
Het |
| Bmper |
G |
T |
9: 23,285,224 (GRCm39) |
V258L |
probably benign |
Het |
| Brd4 |
T |
C |
17: 32,431,956 (GRCm39) |
H636R |
possibly damaging |
Het |
| Cacna2d4 |
C |
T |
6: 119,284,247 (GRCm39) |
R745W |
probably damaging |
Het |
| Ccbe1 |
C |
T |
18: 66,217,877 (GRCm39) |
C112Y |
probably damaging |
Het |
| Ccdc28b |
T |
A |
4: 129,514,945 (GRCm39) |
|
probably null |
Het |
| Cd320 |
T |
C |
17: 34,065,004 (GRCm39) |
S46P |
possibly damaging |
Het |
| Cfap251 |
T |
A |
5: 123,394,248 (GRCm39) |
V379E |
probably damaging |
Het |
| Cfap44 |
G |
A |
16: 44,225,039 (GRCm39) |
E95K |
possibly damaging |
Het |
| Clpp |
T |
C |
17: 57,299,901 (GRCm39) |
V144A |
probably damaging |
Het |
| Crtam |
A |
T |
9: 40,903,912 (GRCm39) |
C96S |
probably damaging |
Het |
| Dcst1 |
C |
T |
3: 89,261,112 (GRCm39) |
R480H |
probably benign |
Het |
| Dock2 |
A |
T |
11: 34,414,970 (GRCm39) |
|
probably benign |
Het |
| Ermard |
A |
G |
17: 15,242,390 (GRCm39) |
T189A |
probably benign |
Het |
| Gm10840 |
A |
G |
11: 106,051,902 (GRCm39) |
|
probably benign |
Het |
| Gm4845 |
T |
A |
1: 141,184,598 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr1 |
A |
G |
13: 12,420,918 (GRCm39) |
E403G |
probably benign |
Het |
| Herc4 |
A |
G |
10: 63,121,844 (GRCm39) |
I399V |
probably null |
Het |
| Htr1f |
A |
G |
16: 64,746,254 (GRCm39) |
I346T |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,934,382 (GRCm39) |
|
probably null |
Het |
| Jmy |
G |
A |
13: 93,589,325 (GRCm39) |
T644I |
probably benign |
Het |
| Kcnn2 |
T |
C |
18: 45,692,543 (GRCm39) |
C40R |
possibly damaging |
Het |
| Krt13 |
T |
G |
11: 100,009,979 (GRCm39) |
K297T |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,513,296 (GRCm39) |
|
probably null |
Het |
| Lrrc8b |
T |
C |
5: 105,627,978 (GRCm39) |
V108A |
possibly damaging |
Het |
| Lrrc8c |
T |
A |
5: 105,727,414 (GRCm39) |
V26E |
probably damaging |
Het |
| Or10g6 |
A |
G |
9: 39,934,295 (GRCm39) |
D202G |
probably damaging |
Het |
| Or5p6 |
A |
G |
7: 107,631,541 (GRCm39) |
F3S |
probably benign |
Het |
| Pgm2 |
A |
T |
5: 64,265,022 (GRCm39) |
R348* |
probably null |
Het |
| Pikfyve |
T |
G |
1: 65,292,682 (GRCm39) |
S1378A |
probably damaging |
Het |
| Pkp2 |
T |
C |
16: 16,064,892 (GRCm39) |
V472A |
probably benign |
Het |
| Pld5 |
A |
G |
1: 175,803,081 (GRCm39) |
F395L |
probably benign |
Het |
| Plekhb1 |
A |
T |
7: 100,294,810 (GRCm39) |
Y169N |
probably damaging |
Het |
| Polr2c |
T |
A |
8: 95,589,265 (GRCm39) |
Y186N |
probably damaging |
Het |
| Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
| Prr5l |
A |
G |
2: 101,547,819 (GRCm39) |
|
probably benign |
Het |
| Ptbp2 |
C |
T |
3: 119,514,570 (GRCm39) |
R419Q |
possibly damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,230,451 (GRCm39) |
V1038A |
probably damaging |
Het |
| Rassf2 |
A |
G |
2: 131,844,830 (GRCm39) |
V204A |
probably damaging |
Het |
| Slc22a22 |
T |
C |
15: 57,119,949 (GRCm39) |
|
probably null |
Het |
| Slit1 |
T |
C |
19: 41,596,874 (GRCm39) |
Y1075C |
probably damaging |
Het |
| Smc5 |
C |
A |
19: 23,186,291 (GRCm39) |
L1055F |
probably damaging |
Het |
| Spidr |
A |
G |
16: 15,730,645 (GRCm39) |
F620S |
probably damaging |
Het |
| Susd1 |
A |
G |
4: 59,379,749 (GRCm39) |
S293P |
possibly damaging |
Het |
| Tepsin |
A |
G |
11: 119,986,163 (GRCm39) |
|
probably benign |
Het |
| Vmn2r68 |
A |
T |
7: 84,870,794 (GRCm39) |
L830I |
possibly damaging |
Het |
| Vtn |
A |
G |
11: 78,391,680 (GRCm39) |
|
probably benign |
Het |
| Zfp267 |
C |
T |
3: 36,219,218 (GRCm39) |
H414Y |
probably benign |
Het |
| Zfp280d |
T |
G |
9: 72,219,383 (GRCm39) |
S162A |
possibly damaging |
Het |
| Zfp608 |
T |
G |
18: 55,033,306 (GRCm39) |
K409T |
probably damaging |
Het |
| Zfp738 |
A |
T |
13: 67,819,643 (GRCm39) |
M116K |
probably benign |
Het |
|
| Other mutations in Pcna |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00435:Pcna
|
APN |
2 |
132,093,852 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL00839:Pcna
|
APN |
2 |
132,093,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01463:Pcna
|
APN |
2 |
132,093,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02437:Pcna
|
APN |
2 |
132,093,155 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03083:Pcna
|
APN |
2 |
132,093,673 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03084:Pcna
|
APN |
2 |
132,093,673 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03094:Pcna
|
APN |
2 |
132,093,673 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03124:Pcna
|
APN |
2 |
132,093,673 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03046:Pcna
|
UTSW |
2 |
132,093,673 (GRCm39) |
missense |
probably benign |
0.10 |
|
NA:Pcna
|
UTSW |
2 |
132,091,804 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1928:Pcna
|
UTSW |
2 |
132,093,817 (GRCm39) |
unclassified |
probably benign |
|
|
R3857:Pcna
|
UTSW |
2 |
132,091,541 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7211:Pcna
|
UTSW |
2 |
132,091,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7296:Pcna
|
UTSW |
2 |
132,094,797 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7917:Pcna
|
UTSW |
2 |
132,094,929 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8318:Pcna
|
UTSW |
2 |
132,093,348 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8411:Pcna
|
UTSW |
2 |
132,093,850 (GRCm39) |
missense |
probably benign |
|
|
R8793:Pcna
|
UTSW |
2 |
132,093,193 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8965:Pcna
|
UTSW |
2 |
132,094,769 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9780:Pcna
|
UTSW |
2 |
132,094,794 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCAACCCTCACTTATTTGCCAAG -3'
(R):5'- TTGAGAACATGAAGCTGAGCCTTCC -3'
Sequencing Primer
(F):5'- TGCCAAGAGTATTTCCAGGAAGC -3'
(R):5'- CTGTGTAATAAAGATGCCGTCG -3'
|
| Posted On |
2014-08-20 |
Incidental Mutation