Incidental Mutation 'R2972:Card9'
| ID |
255232 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Card9
|
| Ensembl Gene |
ENSMUSG00000026928 |
| Gene Name |
caspase recruitment domain family, member 9 |
| Synonyms |
LOC332579 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2972 (G1)
|
| Quality Score |
223 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
26242188-26250930 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 26247222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 309
(R309H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097876
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028294]
[ENSMUST00000100303]
|
| AlphaFold |
A2AIV8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028294
AA Change: R309H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028294
Gene: ENSMUSG00000026928
AA Change: R309H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CARD
|
11 |
97 |
3.1e-21 |
PFAM |
|
coiled coil region
|
145 |
272 |
N/A |
INTRINSIC |
|
coiled coil region
|
375 |
415 |
N/A |
INTRINSIC |
|
low complexity region
|
482 |
494 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100303
AA Change: R309H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097876
Gene: ENSMUSG00000026928
AA Change: R309H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CARD
|
11 |
97 |
7.1e-22 |
PFAM |
|
coiled coil region
|
145 |
272 |
N/A |
INTRINSIC |
|
coiled coil region
|
375 |
415 |
N/A |
INTRINSIC |
|
low complexity region
|
482 |
494 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125198
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153370
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| 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 member of the CARD protein family, which is defined by the presence of a characteristic caspase-associated recruitment domain (CARD). CARD is a protein interaction domain known to participate in activation or suppression of CARD containing members of the caspase family, and thus plays an important regulatory role in cell apoptosis. This protein was identified by its selective association with the CARD domain of BCL10, a postive regulator of apoptosis and NF-kappaB activation, and is thought to function as a molecular scaffold for the assembly of a BCL10 signaling complex that activates NF-kappaB. Several alternatively spliced transcript variants have been observed, but their full-length nature is not clearly defined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one allele of this gene display impaired immune responses to fungal infection but normal rates of bacterial clearance. However, homozygotes for a second allele display impaired bacterial clearance and impaired early innate immune responses. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(6) : Targeted(5) Gene trapped(1)
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| BC048507 |
T |
C |
13: 68,011,749 (GRCm39) |
I42T |
probably benign |
Het |
| Clec14a |
T |
A |
12: 58,314,360 (GRCm39) |
R421W |
probably damaging |
Het |
| Crnkl1 |
A |
G |
2: 145,774,181 (GRCm39) |
L94P |
probably benign |
Het |
| D930007J09Rik |
C |
T |
13: 32,986,742 (GRCm39) |
|
probably benign |
Het |
| Dhrs7c |
T |
A |
11: 67,706,697 (GRCm39) |
I285N |
possibly damaging |
Het |
| Golga2 |
A |
G |
2: 32,195,671 (GRCm39) |
N752S |
probably benign |
Het |
| Klrb1-ps1 |
A |
G |
6: 129,096,719 (GRCm39) |
|
noncoding transcript |
Het |
| Nin |
G |
A |
12: 70,109,487 (GRCm39) |
R151C |
probably damaging |
Het |
| Nsun6 |
A |
C |
2: 15,042,883 (GRCm39) |
|
probably null |
Het |
| Nyap2 |
C |
T |
1: 81,169,485 (GRCm39) |
R81* |
probably null |
Het |
| Or1n2 |
G |
A |
2: 36,797,416 (GRCm39) |
V153M |
probably benign |
Het |
| Or4a69 |
G |
T |
2: 89,313,120 (GRCm39) |
R120S |
possibly damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,410,644 (GRCm39) |
M2717K |
possibly damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,867,540 (GRCm39) |
K5E |
possibly damaging |
Het |
| Rnf130 |
T |
A |
11: 49,984,627 (GRCm39) |
L309* |
probably null |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Rxrg |
G |
A |
1: 167,466,715 (GRCm39) |
R422H |
probably damaging |
Het |
| Serpinb9e |
T |
A |
13: 33,439,126 (GRCm39) |
V184E |
probably benign |
Het |
| Slc10a5 |
A |
T |
3: 10,399,517 (GRCm39) |
I381N |
probably damaging |
Het |
| Slit1 |
G |
A |
19: 41,599,455 (GRCm39) |
P1032L |
probably benign |
Het |
| Sptlc3 |
A |
G |
2: 139,431,581 (GRCm39) |
T368A |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,133,847 (GRCm39) |
Y748H |
probably benign |
Het |
| Ugt8a |
T |
C |
3: 125,708,957 (GRCm39) |
H51R |
probably benign |
Het |
| Vmn2r117 |
A |
G |
17: 23,678,830 (GRCm39) |
V798A |
probably damaging |
Het |
| Vmn2r77 |
T |
C |
7: 86,452,893 (GRCm39) |
Y537H |
probably benign |
Het |
|
| Other mutations in Card9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01704:Card9
|
APN |
2 |
26,246,874 (GRCm39) |
missense |
probably benign |
|
|
IGL02397:Card9
|
APN |
2 |
26,242,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02506:Card9
|
APN |
2 |
26,244,427 (GRCm39) |
splice site |
probably benign |
|
|
IGL02536:Card9
|
APN |
2 |
26,248,844 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02809:Card9
|
APN |
2 |
26,246,876 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02962:Card9
|
APN |
2 |
26,248,029 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1441:Card9
|
UTSW |
2 |
26,249,402 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1585:Card9
|
UTSW |
2 |
26,244,398 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1755:Card9
|
UTSW |
2 |
26,249,546 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1959:Card9
|
UTSW |
2 |
26,244,885 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4007:Card9
|
UTSW |
2 |
26,243,012 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4283:Card9
|
UTSW |
2 |
26,247,309 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4789:Card9
|
UTSW |
2 |
26,247,632 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5381:Card9
|
UTSW |
2 |
26,248,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5933:Card9
|
UTSW |
2 |
26,242,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6379:Card9
|
UTSW |
2 |
26,246,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7008:Card9
|
UTSW |
2 |
26,247,811 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7124:Card9
|
UTSW |
2 |
26,246,896 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7131:Card9
|
UTSW |
2 |
26,248,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7171:Card9
|
UTSW |
2 |
26,249,496 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7237:Card9
|
UTSW |
2 |
26,246,787 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7984:Card9
|
UTSW |
2 |
26,246,784 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8023:Card9
|
UTSW |
2 |
26,247,327 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8312:Card9
|
UTSW |
2 |
26,247,801 (GRCm39) |
nonsense |
probably null |
|
|
R8672:Card9
|
UTSW |
2 |
26,247,950 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9135:Card9
|
UTSW |
2 |
26,242,397 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9273:Card9
|
UTSW |
2 |
26,247,310 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9577:Card9
|
UTSW |
2 |
26,242,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9626:Card9
|
UTSW |
2 |
26,247,294 (GRCm39) |
missense |
probably benign |
0.39 |
|
Z1176:Card9
|
UTSW |
2 |
26,247,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Card9
|
UTSW |
2 |
26,247,563 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTAGTCTAAGACCATGGCCTCAG -3'
(R):5'- AGTGCACATCAGGCCTCATG -3'
Sequencing Primer
(F):5'- GCCACCATTGGTCACACTGTAAG -3'
(R):5'- TGGTACAACTGCAGTGGC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation