Incidental Mutation 'R5487:Pou5f2'
| ID |
430428 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pou5f2
|
| Ensembl Gene |
ENSMUSG00000093668 |
| Gene Name |
POU domain class 5, transcription factor 2 |
| Synonyms |
Sprm1, 1700013G10Rik |
| MMRRC Submission |
043048-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R5487 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
78173021-78174414 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78173118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 20
(L20P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135597
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091459]
[ENSMUST00000099358]
[ENSMUST00000163257]
[ENSMUST00000175955]
[ENSMUST00000224217]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091459
|
| SMART Domains |
Protein: ENSMUSP00000089038
Gene: ENSMUSG00000064138
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arb2
|
30 |
178 |
7.8e-38 |
PFAM |
|
SCOP:d1imja_
|
224 |
295 |
2e-3 |
SMART |
|
low complexity region
|
341 |
354 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099358
|
| SMART Domains |
Protein: ENSMUSP00000096960
Gene: ENSMUSG00000064138
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1imja_
|
160 |
231 |
2e-3 |
SMART |
|
low complexity region
|
277 |
290 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163257
|
| SMART Domains |
Protein: ENSMUSP00000133140
Gene: ENSMUSG00000064138
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Arb2
|
78 |
228 |
3.5e-44 |
PFAM |
|
SCOP:d1imja_
|
270 |
341 |
2e-3 |
SMART |
|
low complexity region
|
387 |
400 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175955
AA Change: L20P
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000135597
Gene: ENSMUSG00000093668
AA Change: L20P
| Domain | Start | End | E-Value | Type |
|---|
|
POU
|
107 |
181 |
8.68e-33 |
SMART |
|
HOX
|
199 |
261 |
2.57e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224217
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.1%
- 10x: 94.6%
- 20x: 89.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null male mice exhibit reduced male fertility in spite of normal morphology and sperm count. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
G |
11: 109,844,340 (GRCm39) |
V959A |
probably damaging |
Het |
| Alg3 |
A |
T |
16: 20,426,530 (GRCm39) |
I115N |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,888,733 (GRCm39) |
D204G |
probably benign |
Het |
| Camta1 |
C |
A |
4: 151,229,211 (GRCm39) |
E540D |
possibly damaging |
Het |
| Cblc |
T |
C |
7: 19,518,733 (GRCm39) |
T413A |
probably benign |
Het |
| Ccdc122 |
T |
A |
14: 77,329,119 (GRCm39) |
H57Q |
probably benign |
Het |
| Ccdc85a |
A |
T |
11: 28,526,768 (GRCm39) |
L280* |
probably null |
Het |
| Cd46 |
T |
G |
1: 194,750,478 (GRCm39) |
|
probably null |
Het |
| Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
| Dnaaf3 |
T |
C |
7: 4,526,864 (GRCm39) |
|
probably null |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Ecpas |
T |
C |
4: 58,809,421 (GRCm39) |
D1651G |
probably benign |
Het |
| Eif2ak1 |
A |
G |
5: 143,833,981 (GRCm39) |
|
probably null |
Het |
| Erich4 |
A |
G |
7: 25,314,664 (GRCm39) |
M83T |
probably benign |
Het |
| Fbxo24 |
C |
T |
5: 137,617,094 (GRCm39) |
G331E |
possibly damaging |
Het |
| Fzd4 |
A |
G |
7: 89,056,615 (GRCm39) |
I221V |
probably benign |
Het |
| G6pc2 |
T |
C |
2: 69,056,921 (GRCm39) |
V189A |
probably damaging |
Het |
| Gm10663 |
A |
C |
8: 65,527,686 (GRCm39) |
E1A |
probably null |
Het |
| Gm4871 |
C |
A |
5: 144,967,199 (GRCm39) |
E178D |
probably damaging |
Het |
| Igdcc3 |
A |
G |
9: 65,088,866 (GRCm39) |
E415G |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,733,272 (GRCm39) |
|
probably benign |
Het |
| Krba1 |
T |
C |
6: 48,380,973 (GRCm39) |
V103A |
probably damaging |
Het |
| Lcat |
T |
C |
8: 106,666,296 (GRCm39) |
K409E |
probably benign |
Het |
| Lrriq4 |
C |
A |
3: 30,714,144 (GRCm39) |
N497K |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,919,842 (GRCm39) |
T451A |
probably damaging |
Het |
| Noxo1 |
C |
T |
17: 24,917,291 (GRCm39) |
|
probably benign |
Het |
| Oas1a |
A |
G |
5: 121,045,490 (GRCm39) |
I17T |
probably damaging |
Het |
| Otog |
A |
T |
7: 45,938,192 (GRCm39) |
Y1967F |
probably benign |
Het |
| Pcdha9 |
A |
T |
18: 37,132,703 (GRCm39) |
N591Y |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,494,218 (GRCm39) |
Y133H |
probably damaging |
Het |
| Prkcb |
T |
A |
7: 122,199,948 (GRCm39) |
C586* |
probably null |
Het |
| Sema3b |
A |
T |
9: 107,478,161 (GRCm39) |
M408K |
probably damaging |
Het |
| Serpinf2 |
G |
A |
11: 75,324,031 (GRCm39) |
T332I |
probably damaging |
Het |
| Tmbim1 |
A |
G |
1: 74,332,164 (GRCm39) |
V121A |
probably benign |
Het |
| Tph2 |
C |
T |
10: 114,955,779 (GRCm39) |
G338D |
probably damaging |
Het |
| Trpc2 |
GTGTCCTA |
GTGTCCTATGTCCTA |
7: 101,744,420 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,642,896 (GRCm39) |
V13247M |
probably damaging |
Het |
| Uty |
C |
T |
Y: 1,174,825 (GRCm39) |
G192R |
probably damaging |
Het |
| Vmn2r65 |
G |
T |
7: 84,595,529 (GRCm39) |
P385Q |
possibly damaging |
Het |
| Wdfy3 |
G |
A |
5: 101,984,140 (GRCm39) |
R3489W |
probably damaging |
Het |
| Zfp750 |
A |
G |
11: 121,404,558 (GRCm39) |
S106P |
probably benign |
Het |
|
| Other mutations in Pou5f2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01018:Pou5f2
|
APN |
13 |
78,174,057 (GRCm39) |
intron |
probably benign |
|
|
IGL01726:Pou5f2
|
APN |
13 |
78,173,300 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02484:Pou5f2
|
APN |
13 |
78,174,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02549:Pou5f2
|
APN |
13 |
78,173,709 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02850:Pou5f2
|
APN |
13 |
78,173,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02852:Pou5f2
|
APN |
13 |
78,173,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02951:Pou5f2
|
APN |
13 |
78,173,237 (GRCm39) |
missense |
probably benign |
|
|
R0631:Pou5f2
|
UTSW |
13 |
78,173,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1502:Pou5f2
|
UTSW |
13 |
78,173,370 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2014:Pou5f2
|
UTSW |
13 |
78,173,972 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2055:Pou5f2
|
UTSW |
13 |
78,173,940 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4082:Pou5f2
|
UTSW |
13 |
78,174,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5193:Pou5f2
|
UTSW |
13 |
78,173,083 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6880:Pou5f2
|
UTSW |
13 |
78,173,613 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7108:Pou5f2
|
UTSW |
13 |
78,173,384 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7117:Pou5f2
|
UTSW |
13 |
78,173,392 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8334:Pou5f2
|
UTSW |
13 |
78,173,392 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8836:Pou5f2
|
UTSW |
13 |
78,173,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9290:Pou5f2
|
UTSW |
13 |
78,173,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9584:Pou5f2
|
UTSW |
13 |
78,173,592 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1176:Pou5f2
|
UTSW |
13 |
78,173,216 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Pou5f2
|
UTSW |
13 |
78,173,820 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAGTTACCTCAGTCTCCAAGCC -3'
(R):5'- TGCCTCACAAGCTCTGTAGG -3'
Sequencing Primer
(F):5'- CCAGTGTCTTGCTTGCAGTGC -3'
(R):5'- CACAAGCTCTGTAGGGTGCTATC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation