Incidental Mutation 'R8529:Prdm5'
| ID |
658935 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prdm5
|
| Ensembl Gene |
ENSMUSG00000029913 |
| Gene Name |
PR domain containing 5 |
| Synonyms |
6530401I24Rik, PFM2, E130112L17Rik, 4432417F03Rik |
| MMRRC Submission |
068499-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8529 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
65755972-65913994 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 65878829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 128
(R128C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079979
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031973]
[ENSMUST00000031976]
[ENSMUST00000081219]
[ENSMUST00000172638]
|
| AlphaFold |
Q9CXE0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031973
AA Change: R322C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031973
Gene: ENSMUSG00000029913
AA Change: R322C
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3EP0|B
|
4 |
101 |
1e-11 |
PDB |
|
Blast:SET
|
8 |
100 |
4e-64 |
BLAST |
|
ZnF_C2H2
|
105 |
127 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
133 |
155 |
8.81e-2 |
SMART |
|
ZnF_C2H2
|
161 |
183 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
189 |
211 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
217 |
240 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
246 |
268 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
274 |
296 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
302 |
324 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
330 |
352 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
358 |
380 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
387 |
410 |
1.43e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031976
AA Change: R506C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031976
Gene: ENSMUSG00000029913
AA Change: R506C
| Domain | Start | End | E-Value | Type |
|---|
|
SET
|
8 |
130 |
2.01e-4 |
SMART |
|
ZnF_C2H2
|
167 |
190 |
3.39e-3 |
SMART |
|
ZnF_C2H2
|
199 |
221 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
231 |
256 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
264 |
286 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
289 |
311 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
317 |
339 |
8.81e-2 |
SMART |
|
ZnF_C2H2
|
345 |
367 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
373 |
395 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
401 |
424 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
430 |
452 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
458 |
480 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
486 |
508 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
514 |
536 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
542 |
564 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
571 |
594 |
1.43e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081219
AA Change: R128C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079979
Gene: ENSMUSG00000029913
AA Change: R128C
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SET
|
8 |
72 |
2e-34 |
BLAST |
|
ZnF_C2H2
|
80 |
102 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
108 |
130 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
136 |
158 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
164 |
186 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
193 |
216 |
1.43e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172638
|
| SMART Domains |
Protein: ENSMUSP00000133423
Gene: ENSMUSG00000029913
| Domain | Start | End | E-Value | Type |
|---|
|
SET
|
8 |
130 |
2.01e-4 |
SMART |
|
ZnF_C2H2
|
167 |
190 |
3.39e-3 |
SMART |
|
ZnF_C2H2
|
199 |
221 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
231 |
256 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
264 |
286 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
289 |
311 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
317 |
339 |
8.81e-2 |
SMART |
|
ZnF_C2H2
|
345 |
367 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
373 |
395 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
401 |
424 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
430 |
452 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
458 |
480 |
2.4e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (52/53) |
| 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 transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a hypomorphic allele display delayed bone ossification with reduced collagen fibril formation, total bone area, bone mineral content and bone mineral density. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd5 |
A |
G |
2: 22,970,704 (GRCm39) |
Y173C |
probably benign |
Het |
| Ankrd55 |
A |
T |
13: 112,480,670 (GRCm39) |
T192S |
probably benign |
Het |
| Apob |
A |
T |
12: 8,057,353 (GRCm39) |
H1912L |
probably damaging |
Het |
| Bcl2l11 |
T |
C |
2: 127,970,796 (GRCm39) |
S82P |
possibly damaging |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| Btnl10 |
A |
T |
11: 58,813,238 (GRCm39) |
D289V |
probably benign |
Het |
| Calcoco2 |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,808 (GRCm39) |
|
probably benign |
Het |
| Cdh11 |
G |
A |
8: 103,391,387 (GRCm39) |
P283L |
probably benign |
Het |
| Crybg3 |
C |
A |
16: 59,376,984 (GRCm39) |
K1423N |
probably damaging |
Het |
| Dgat1 |
T |
A |
15: 76,387,237 (GRCm39) |
Y350F |
probably damaging |
Het |
| Dhx36 |
TCCGCCGCCGCCGCCGC |
TCCGCCGCCGCCGC |
3: 62,414,277 (GRCm39) |
|
probably benign |
Het |
| Edc4 |
A |
G |
8: 106,611,682 (GRCm39) |
D86G |
probably damaging |
Het |
| Ep400 |
T |
C |
5: 110,867,102 (GRCm39) |
Y1014C |
unknown |
Het |
| Erbb3 |
A |
G |
10: 128,419,069 (GRCm39) |
V264A |
probably damaging |
Het |
| Fam149b |
T |
A |
14: 20,408,370 (GRCm39) |
|
probably null |
Het |
| Foxc1 |
A |
G |
13: 31,992,520 (GRCm39) |
S444G |
unknown |
Het |
| Gm2042 |
G |
A |
12: 87,926,856 (GRCm39) |
S391N |
possibly damaging |
Het |
| Gnb3 |
A |
T |
6: 124,814,633 (GRCm39) |
N88K |
probably benign |
Het |
| Ifnar2 |
T |
A |
16: 91,188,684 (GRCm39) |
V157D |
possibly damaging |
Het |
| Il27 |
A |
T |
7: 126,191,977 (GRCm39) |
L53Q |
probably damaging |
Het |
| Ints13 |
T |
C |
6: 146,464,926 (GRCm39) |
E225G |
probably damaging |
Het |
| Itpr2 |
G |
A |
6: 146,231,051 (GRCm39) |
R1167C |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,330,986 (GRCm39) |
I1690K |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,348,373 (GRCm39) |
E2774G |
unknown |
Het |
| Lyz2 |
A |
T |
10: 117,116,568 (GRCm39) |
N93K |
probably damaging |
Het |
| Mki67 |
A |
G |
7: 135,315,688 (GRCm39) |
|
probably null |
Het |
| Mroh1 |
T |
C |
15: 76,311,832 (GRCm39) |
F522L |
probably benign |
Het |
| Myo5a |
A |
G |
9: 75,120,154 (GRCm39) |
I1626V |
probably benign |
Het |
| Nav3 |
A |
T |
10: 109,689,192 (GRCm39) |
S362T |
probably benign |
Het |
| Neurl4 |
C |
T |
11: 69,799,613 (GRCm39) |
P972L |
probably damaging |
Het |
| Or11i1 |
A |
T |
3: 106,729,109 (GRCm39) |
Y255* |
probably null |
Het |
| Or13p8 |
A |
T |
4: 118,583,770 (GRCm39) |
T109S |
probably benign |
Het |
| Or8a1 |
A |
T |
9: 37,642,252 (GRCm39) |
V9E |
probably damaging |
Het |
| Potefam3b |
A |
G |
8: 21,159,174 (GRCm39) |
D176G |
possibly damaging |
Het |
| Prom1 |
A |
T |
5: 44,170,369 (GRCm39) |
|
probably null |
Het |
| Prrc2c |
T |
A |
1: 162,536,663 (GRCm39) |
|
probably benign |
Het |
| Prss3b |
T |
A |
6: 41,009,369 (GRCm39) |
Y155F |
probably benign |
Het |
| Ptprd |
T |
C |
4: 76,047,262 (GRCm39) |
T322A |
probably damaging |
Het |
| Reg3d |
C |
G |
6: 78,353,382 (GRCm39) |
G154R |
probably null |
Het |
| Rsf1 |
A |
G |
7: 97,320,074 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
T |
A |
7: 28,769,509 (GRCm39) |
T2724S |
possibly damaging |
Het |
| Sec63 |
A |
G |
10: 42,665,379 (GRCm39) |
Y103C |
probably damaging |
Het |
| Serpinb9b |
A |
T |
13: 33,223,543 (GRCm39) |
D245V |
probably benign |
Het |
| Slc22a28 |
G |
A |
19: 8,040,778 (GRCm39) |
T491I |
probably benign |
Het |
| Slc24a2 |
T |
C |
4: 86,946,517 (GRCm39) |
N484S |
possibly damaging |
Het |
| Slc44a3 |
G |
T |
3: 121,319,334 (GRCm39) |
L136I |
probably benign |
Het |
| Tff3 |
A |
G |
17: 31,348,460 (GRCm39) |
|
probably null |
Het |
| Tpp2 |
T |
A |
1: 44,022,300 (GRCm39) |
D899E |
probably benign |
Het |
| Tsbp1 |
G |
T |
17: 34,679,143 (GRCm39) |
C302F |
possibly damaging |
Het |
| Tsen54 |
G |
T |
11: 115,711,386 (GRCm39) |
D268Y |
possibly damaging |
Het |
| Ttbk2 |
A |
C |
2: 120,604,338 (GRCm39) |
V220G |
possibly damaging |
Het |
| Uggt1 |
A |
G |
1: 36,223,513 (GRCm39) |
V592A |
possibly damaging |
Het |
| Usp49 |
A |
T |
17: 47,983,037 (GRCm39) |
Q14L |
probably damaging |
Het |
| Vldlr |
T |
A |
19: 27,207,656 (GRCm39) |
L48Q |
probably benign |
Het |
| Zbed6 |
T |
C |
1: 133,584,706 (GRCm39) |
Y877C |
probably benign |
Het |
| Zp3 |
C |
A |
5: 136,016,119 (GRCm39) |
T282N |
probably damaging |
Het |
|
| Other mutations in Prdm5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01395:Prdm5
|
APN |
6 |
65,847,374 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02363:Prdm5
|
APN |
6 |
65,771,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02457:Prdm5
|
APN |
6 |
65,858,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03190:Prdm5
|
APN |
6 |
65,833,116 (GRCm39) |
splice site |
probably benign |
|
|
IGL03239:Prdm5
|
APN |
6 |
65,863,062 (GRCm39) |
splice site |
probably benign |
|
|
IGL03377:Prdm5
|
APN |
6 |
65,836,457 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0329:Prdm5
|
UTSW |
6 |
65,839,887 (GRCm39) |
splice site |
probably benign |
|
|
R0926:Prdm5
|
UTSW |
6 |
65,860,531 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1458:Prdm5
|
UTSW |
6 |
65,860,585 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1859:Prdm5
|
UTSW |
6 |
65,808,263 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1956:Prdm5
|
UTSW |
6 |
65,913,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1996:Prdm5
|
UTSW |
6 |
65,913,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1997:Prdm5
|
UTSW |
6 |
65,913,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2019:Prdm5
|
UTSW |
6 |
65,808,340 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3082:Prdm5
|
UTSW |
6 |
65,913,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3819:Prdm5
|
UTSW |
6 |
65,913,041 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4411:Prdm5
|
UTSW |
6 |
65,878,771 (GRCm39) |
nonsense |
probably null |
|
|
R4981:Prdm5
|
UTSW |
6 |
65,847,446 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5077:Prdm5
|
UTSW |
6 |
65,756,158 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5089:Prdm5
|
UTSW |
6 |
65,833,074 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5138:Prdm5
|
UTSW |
6 |
65,833,086 (GRCm39) |
nonsense |
probably null |
|
|
R5735:Prdm5
|
UTSW |
6 |
65,904,974 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6355:Prdm5
|
UTSW |
6 |
65,860,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6743:Prdm5
|
UTSW |
6 |
65,860,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6769:Prdm5
|
UTSW |
6 |
65,839,920 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7216:Prdm5
|
UTSW |
6 |
65,904,967 (GRCm39) |
nonsense |
probably null |
|
|
R7305:Prdm5
|
UTSW |
6 |
65,808,244 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7510:Prdm5
|
UTSW |
6 |
65,904,976 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8270:Prdm5
|
UTSW |
6 |
65,913,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8856:Prdm5
|
UTSW |
6 |
65,860,569 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9283:Prdm5
|
UTSW |
6 |
65,858,060 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9427:Prdm5
|
UTSW |
6 |
65,771,321 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9477:Prdm5
|
UTSW |
6 |
65,771,342 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
X0017:Prdm5
|
UTSW |
6 |
65,846,246 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTTTGTAGCTGTGAGCCC -3'
(R):5'- GACTAACATACTGGCAGTTTGGC -3'
Sequencing Primer
(F):5'- CTGTGAGCCCTGGTGAGAAG -3'
(R):5'- GCAGTTTGGCACCTTGC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation