Incidental Mutation 'R4042:Bcl2l2'
| ID |
315786 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bcl2l2
|
| Ensembl Gene |
ENSMUSG00000089682 |
| Gene Name |
BCL2-like 2 |
| Synonyms |
Bcl-w, bclw, Gtrgal2, Gtrosa41 |
| MMRRC Submission |
040851-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.640)
|
| Stock # |
R4042 (G1)
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
55120900-55125691 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 55122091 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 85
(E85K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116385
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022806]
[ENSMUST00000133397]
[ENSMUST00000134077]
[ENSMUST00000172844]
[ENSMUST00000227108]
|
| AlphaFold |
P70345 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022806
AA Change: E85K
PolyPhen 2
Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000022806
Gene: ENSMUSG00000089682
AA Change: E85K
| Domain | Start | End | E-Value | Type |
|---|
|
BH4
|
6 |
32 |
1.28e-11 |
SMART |
|
BCL
|
46 |
144 |
1.22e-45 |
SMART |
|
low complexity region
|
172 |
188 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131243
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000133397
AA Change: E85K
PolyPhen 2
Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000116385
Gene: ENSMUSG00000089682
AA Change: E85K
| Domain | Start | End | E-Value | Type |
|---|
|
BH4
|
6 |
32 |
1.28e-11 |
SMART |
|
BCL
|
46 |
144 |
1.22e-45 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000134077
AA Change: E85K
PolyPhen 2
Score 0.467 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000117229
Gene: ENSMUSG00000092232
AA Change: E85K
| Domain | Start | End | E-Value | Type |
|---|
|
BH4
|
6 |
32 |
1.28e-11 |
SMART |
|
BCL
|
46 |
144 |
1.22e-45 |
SMART |
|
low complexity region
|
155 |
169 |
N/A |
INTRINSIC |
|
RRM
|
200 |
272 |
4.19e-17 |
SMART |
|
low complexity region
|
314 |
326 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172844
|
| SMART Domains |
Protein: ENSMUSP00000133286
Gene: ENSMUSG00000089682
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Bcl-2
|
1 |
30 |
3.9e-7 |
PFAM |
|
Blast:BCL
|
31 |
53 |
1e-7 |
BLAST |
|
transmembrane domain
|
55 |
77 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194113
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227108
AA Change: E85K
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators. Expression of this gene in cells has been shown to contribute to reduced cell apoptosis under cytotoxic conditions. Studies of the related gene in mice indicated a role in the survival of NGF- and BDNF-dependent neurons. Mutation and knockout studies of the mouse gene demonstrated an essential role in adult spermatogenesis. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream PABPN1 (poly(A) binding protein, nuclear 1) gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous null mutants are male sterile with progressive loss of germ cells, Sertoli cells and Leydig cells beginning at puberty. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts10 |
A |
G |
17: 33,768,514 (GRCm39) |
H864R |
possibly damaging |
Het |
| Akap6 |
A |
T |
12: 53,186,162 (GRCm39) |
|
probably null |
Het |
| Alox5 |
A |
G |
6: 116,437,979 (GRCm39) |
S3P |
possibly damaging |
Het |
| Chd6 |
A |
T |
2: 160,830,253 (GRCm39) |
I1014N |
probably damaging |
Het |
| Cog1 |
A |
T |
11: 113,551,836 (GRCm39) |
Q156L |
probably damaging |
Het |
| Col28a1 |
G |
A |
6: 8,014,678 (GRCm39) |
S909F |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,477,480 (GRCm39) |
G3339D |
probably damaging |
Het |
| Cst11 |
A |
G |
2: 148,613,200 (GRCm39) |
S42P |
probably benign |
Het |
| Cyp2d10 |
C |
T |
15: 82,290,269 (GRCm39) |
R67H |
probably benign |
Het |
| Fsip2 |
G |
T |
2: 82,813,896 (GRCm39) |
R3405L |
probably benign |
Het |
| H2-Ab1 |
T |
C |
17: 34,483,834 (GRCm39) |
V65A |
probably benign |
Het |
| Hdac6 |
T |
C |
X: 7,797,731 (GRCm39) |
T993A |
probably benign |
Het |
| Insrr |
T |
A |
3: 87,721,134 (GRCm39) |
M1095K |
probably damaging |
Het |
| Itih4 |
A |
T |
14: 30,616,995 (GRCm39) |
N517I |
probably damaging |
Het |
| Krt10 |
C |
T |
11: 99,277,819 (GRCm39) |
|
probably null |
Het |
| Mettl16 |
T |
A |
11: 74,683,118 (GRCm39) |
F187I |
probably damaging |
Het |
| Miga2 |
T |
C |
2: 30,257,738 (GRCm39) |
I12T |
possibly damaging |
Het |
| Muc5b |
T |
C |
7: 141,418,624 (GRCm39) |
Y3857H |
possibly damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,317,871 (GRCm39) |
S165P |
probably damaging |
Het |
| Or5bb10 |
A |
T |
19: 12,206,676 (GRCm39) |
I83N |
probably benign |
Het |
| Otol1 |
A |
G |
3: 69,935,112 (GRCm39) |
D368G |
probably damaging |
Het |
| Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
| Plxnb1 |
A |
G |
9: 108,934,241 (GRCm39) |
D823G |
probably benign |
Het |
| Ppme1 |
A |
G |
7: 99,990,272 (GRCm39) |
S226P |
probably damaging |
Het |
| Ppp4r3c1 |
A |
G |
X: 88,975,909 (GRCm39) |
F96S |
probably damaging |
Het |
| Prss40 |
G |
T |
1: 34,599,960 (GRCm39) |
S9* |
probably null |
Het |
| Prune2 |
T |
C |
19: 16,981,190 (GRCm39) |
|
probably null |
Het |
| Radx |
C |
T |
X: 138,407,752 (GRCm39) |
S364L |
probably damaging |
Homo |
| Rgl2 |
C |
T |
17: 34,156,236 (GRCm39) |
R775W |
probably damaging |
Het |
| Rpp40 |
A |
G |
13: 36,082,549 (GRCm39) |
C275R |
probably benign |
Het |
| Rrm2 |
T |
C |
12: 24,761,450 (GRCm39) |
Y162H |
probably benign |
Het |
| Spata6l |
A |
T |
19: 28,923,183 (GRCm39) |
C80S |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 4,991,584 (GRCm39) |
M8377V |
probably benign |
Het |
| Uchl4 |
A |
C |
9: 64,142,839 (GRCm39) |
I107L |
probably benign |
Het |
| Ush1c |
T |
C |
7: 45,870,952 (GRCm39) |
E276G |
probably damaging |
Het |
| Usp34 |
C |
T |
11: 23,439,033 (GRCm39) |
P3532S |
possibly damaging |
Het |
| Vcan |
T |
A |
13: 89,840,662 (GRCm39) |
L1627F |
probably benign |
Het |
| Ythdc1 |
T |
C |
5: 86,964,383 (GRCm39) |
I76T |
probably benign |
Het |
|
| Other mutations in Bcl2l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03126:Bcl2l2
|
APN |
14 |
55,122,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2656:Bcl2l2
|
UTSW |
14 |
55,122,889 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5278:Bcl2l2
|
UTSW |
14 |
55,122,251 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6129:Bcl2l2
|
UTSW |
14 |
55,122,202 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6234:Bcl2l2
|
UTSW |
14 |
55,122,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7205:Bcl2l2
|
UTSW |
14 |
55,122,058 (GRCm39) |
missense |
probably benign |
|
|
R7699:Bcl2l2
|
UTSW |
14 |
55,121,836 (GRCm39) |
start gained |
probably benign |
|
|
R7747:Bcl2l2
|
UTSW |
14 |
55,121,836 (GRCm39) |
start gained |
probably benign |
|
|
R7748:Bcl2l2
|
UTSW |
14 |
55,121,836 (GRCm39) |
start gained |
probably benign |
|
|
R7779:Bcl2l2
|
UTSW |
14 |
55,121,836 (GRCm39) |
start gained |
probably benign |
|
|
R7845:Bcl2l2
|
UTSW |
14 |
55,122,308 (GRCm39) |
missense |
unknown |
|
|
R7855:Bcl2l2
|
UTSW |
14 |
55,121,836 (GRCm39) |
start gained |
probably benign |
|
|
R8017:Bcl2l2
|
UTSW |
14 |
55,121,840 (GRCm39) |
start codon destroyed |
probably null |
0.86 |
|
R8427:Bcl2l2
|
UTSW |
14 |
55,122,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTTGTAGGCTATAAGCTGAGGC -3'
(R):5'- TGAGAACTTCTTACCCAGCCC -3'
Sequencing Primer
(F):5'- CTGAGGCAGAAGGGTTATGTC -3'
(R):5'- TTACCCAGCCCCCACTG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation