Incidental Mutation 'R8017:Bcl2l2'
| ID |
656310 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bcl2l2
|
| Ensembl Gene |
ENSMUSG00000089682 |
| Gene Name |
BCL2-like 2 |
| Synonyms |
Bcl-w, bclw, Gtrgal2, Gtrosa41 |
| MMRRC Submission |
067457-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.634)
|
| Stock # |
R8017 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
55120900-55125691 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 55121840 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022806
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022806]
[ENSMUST00000133397]
[ENSMUST00000134077]
[ENSMUST00000172844]
[ENSMUST00000227108]
|
| AlphaFold |
P70345 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022806
AA Change: M1K
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000022806
Gene: ENSMUSG00000089682
AA Change: M1K
| 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 |
probably null
Transcript: ENSMUST00000133397
AA Change: M1K
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000116385
Gene: ENSMUSG00000089682
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
BH4
|
6 |
32 |
1.28e-11 |
SMART |
|
BCL
|
46 |
144 |
1.22e-45 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000134077
AA Change: M1K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000117229
Gene: ENSMUSG00000092232
AA Change: M1K
| 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 |
probably null
Transcript: ENSMUST00000227108
AA Change: M1K
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.9452 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
95% (36/38) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aar2 |
T |
G |
2: 156,397,876 (GRCm39) |
I296S |
probably benign |
Het |
| Acsl5 |
A |
G |
19: 55,257,228 (GRCm39) |
I42V |
probably benign |
Het |
| Adam25 |
T |
A |
8: 41,207,124 (GRCm39) |
M130K |
possibly damaging |
Het |
| Atosb |
A |
T |
4: 43,034,413 (GRCm39) |
F394Y |
probably damaging |
Het |
| Cdh16 |
T |
C |
8: 105,342,899 (GRCm39) |
N724S |
probably damaging |
Het |
| Cfi |
T |
C |
3: 129,648,748 (GRCm39) |
S211P |
probably benign |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Crybg2 |
T |
A |
4: 133,800,484 (GRCm39) |
V239E |
possibly damaging |
Het |
| Dcn |
G |
A |
10: 97,319,397 (GRCm39) |
R58Q |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,877,949 (GRCm39) |
N2678S |
probably benign |
Het |
| Dnai7 |
A |
G |
6: 145,140,283 (GRCm39) |
S173P |
probably damaging |
Het |
| Fbxo24 |
C |
A |
5: 137,611,073 (GRCm39) |
M572I |
probably benign |
Het |
| Hnrnpul1 |
T |
C |
7: 25,447,889 (GRCm39) |
E145G |
probably benign |
Het |
| Ica1 |
A |
G |
6: 8,658,286 (GRCm39) |
V277A |
probably benign |
Het |
| Idi1 |
G |
A |
13: 8,937,974 (GRCm39) |
S140N |
probably benign |
Het |
| Kank1 |
TGCGA |
T |
19: 25,388,568 (GRCm39) |
|
probably null |
Het |
| Kank1 |
GCGAACG |
GCG |
19: 25,388,569 (GRCm39) |
|
probably null |
Het |
| Kif20b |
T |
C |
19: 34,917,279 (GRCm39) |
V603A |
probably damaging |
Het |
| Klc2 |
T |
C |
19: 5,161,867 (GRCm39) |
K276R |
probably benign |
Het |
| Lmbrd2 |
T |
A |
15: 9,172,317 (GRCm39) |
N370K |
probably benign |
Het |
| Map2k5 |
G |
T |
9: 63,246,403 (GRCm39) |
A108D |
probably damaging |
Het |
| Obox2 |
T |
C |
7: 15,130,974 (GRCm39) |
S69P |
possibly damaging |
Het |
| Or2w2 |
G |
A |
13: 21,758,648 (GRCm39) |
|
probably benign |
Het |
| Or4b1d |
A |
C |
2: 89,969,170 (GRCm39) |
F104L |
probably benign |
Het |
| Or4f57 |
G |
A |
2: 111,790,918 (GRCm39) |
P167S |
probably damaging |
Het |
| Pcdhga8 |
A |
G |
18: 37,860,783 (GRCm39) |
E613G |
probably damaging |
Het |
| Pira2 |
A |
T |
7: 3,844,696 (GRCm39) |
F445Y |
probably benign |
Het |
| Rab2a |
T |
C |
4: 8,604,444 (GRCm39) |
|
probably null |
Het |
| Rsph4a |
A |
C |
10: 33,785,455 (GRCm39) |
R455S |
probably damaging |
Het |
| Spata31f1a |
T |
C |
4: 42,850,840 (GRCm39) |
T439A |
probably damaging |
Het |
| St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
| Tmem151a |
T |
C |
19: 5,132,588 (GRCm39) |
E206G |
probably damaging |
Het |
| Tmem156 |
C |
T |
5: 65,231,204 (GRCm39) |
C222Y |
probably damaging |
Het |
| Tnfrsf11b |
C |
T |
15: 54,117,598 (GRCm39) |
W219* |
probably null |
Het |
| Ttc36 |
T |
C |
9: 44,710,898 (GRCm39) |
E144G |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,597,801 (GRCm39) |
R19704H |
probably damaging |
Het |
| Wdr17 |
A |
C |
8: 55,091,403 (GRCm39) |
I1137S |
possibly damaging |
Het |
| Xxylt1 |
A |
G |
16: 30,826,637 (GRCm39) |
L226P |
probably damaging |
Het |
| Zbtb8b |
G |
A |
4: 129,322,238 (GRCm39) |
R408W |
probably damaging |
Het |
| Zfp268 |
A |
G |
4: 145,349,138 (GRCm39) |
T192A |
probably benign |
Het |
| Zfp873 |
T |
A |
10: 81,896,193 (GRCm39) |
V308E |
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 |
|
R4042:Bcl2l2
|
UTSW |
14 |
55,122,091 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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 |
|
|
R8427:Bcl2l2
|
UTSW |
14 |
55,122,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTGCTTATGCTCTGAACC -3'
(R):5'- GAAACCTGGGTGAAGCGTTG -3'
Sequencing Primer
(F):5'- ATGCTCTGAACCTCCCCATGAC -3'
(R):5'- TCACGTGTAGCTGAGCGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation