Incidental Mutation 'R4476:Cracr2a'
| ID |
330559 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cracr2a
|
| Ensembl Gene |
ENSMUSG00000061414 |
| Gene Name |
calcium release activated channel regulator 2A |
| Synonyms |
LOC243645, Efcab4b, LOC381812 |
| MMRRC Submission |
041733-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4476 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
127538299-127651197 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 127606782 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 275
(N275K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071563]
[ENSMUST00000212051]
|
| AlphaFold |
Q3UP38 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071563
AA Change: N275K
PolyPhen 2
Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000071494
Gene: ENSMUSG00000061414
AA Change: N275K
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
48 |
76 |
2.82e1 |
SMART |
|
EFh
|
82 |
110 |
2.09e-4 |
SMART |
|
coiled coil region
|
192 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
295 |
307 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201303
|
| SMART Domains |
Protein: ENSMUSP00000143930
Gene: ENSMUSG00000061414
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
48 |
76 |
2.82e1 |
SMART |
|
EFh
|
82 |
110 |
2.09e-4 |
SMART |
|
coiled coil region
|
192 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
295 |
307 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212051
AA Change: N275K
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
T |
C |
14: 54,882,787 (GRCm39) |
R275G |
probably damaging |
Het |
| Actc1 |
T |
C |
2: 113,879,707 (GRCm39) |
T251A |
probably benign |
Het |
| Alpk1 |
T |
C |
3: 127,473,667 (GRCm39) |
T779A |
probably damaging |
Het |
| Arsb |
C |
T |
13: 93,944,103 (GRCm39) |
R265C |
probably damaging |
Het |
| Cntn6 |
A |
G |
6: 104,749,522 (GRCm39) |
E319G |
probably damaging |
Het |
| Crispld1 |
G |
T |
1: 17,817,734 (GRCm39) |
W212C |
probably damaging |
Het |
| Exosc10 |
G |
A |
4: 148,649,781 (GRCm39) |
D404N |
probably damaging |
Het |
| Gfpt2 |
T |
C |
11: 49,715,169 (GRCm39) |
V388A |
probably benign |
Het |
| Gm14401 |
C |
T |
2: 176,778,570 (GRCm39) |
R219* |
probably null |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Itgb1bp1 |
T |
C |
12: 21,320,957 (GRCm39) |
E178G |
probably benign |
Het |
| Kidins220 |
C |
T |
12: 25,061,000 (GRCm39) |
S826L |
probably damaging |
Het |
| Krt90 |
T |
C |
15: 101,465,718 (GRCm39) |
D301G |
probably damaging |
Het |
| Me3 |
T |
A |
7: 89,389,068 (GRCm39) |
V124E |
probably damaging |
Het |
| Nedd4 |
C |
T |
9: 72,578,521 (GRCm39) |
R78* |
probably null |
Het |
| Neto1 |
A |
T |
18: 86,422,798 (GRCm39) |
D85V |
probably damaging |
Het |
| Or12k8 |
G |
A |
2: 36,975,073 (GRCm39) |
S229L |
probably damaging |
Het |
| Or13a24 |
T |
C |
7: 140,154,842 (GRCm39) |
Y259H |
probably damaging |
Het |
| Or4g7 |
T |
A |
2: 111,310,009 (GRCm39) |
D293E |
possibly damaging |
Het |
| Parn |
A |
G |
16: 13,482,549 (GRCm39) |
S100P |
probably benign |
Het |
| Pkd1 |
A |
G |
17: 24,795,500 (GRCm39) |
E2331G |
probably damaging |
Het |
| Rab22a |
C |
T |
2: 173,537,056 (GRCm39) |
T85M |
probably damaging |
Het |
| Rab23 |
A |
G |
1: 33,763,973 (GRCm39) |
|
probably benign |
Het |
| Sim2 |
T |
C |
16: 93,926,650 (GRCm39) |
S625P |
probably benign |
Het |
| Sox18 |
T |
C |
2: 181,312,669 (GRCm39) |
K154R |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,672,340 (GRCm39) |
|
probably null |
Het |
| Ugt1a10 |
TAAAAAAAAA |
TAAAAAAA |
1: 88,143,650 (GRCm39) |
|
probably benign |
Het |
| Zfp667 |
A |
G |
7: 6,307,598 (GRCm39) |
K89E |
possibly damaging |
Het |
|
| Other mutations in Cracr2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02136:Cracr2a
|
APN |
6 |
127,606,893 (GRCm39) |
intron |
probably benign |
|
|
PIT4812001:Cracr2a
|
UTSW |
6 |
127,602,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0111:Cracr2a
|
UTSW |
6 |
127,581,024 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0180:Cracr2a
|
UTSW |
6 |
127,581,037 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1612:Cracr2a
|
UTSW |
6 |
127,580,892 (GRCm39) |
nonsense |
probably null |
|
|
R1929:Cracr2a
|
UTSW |
6 |
127,584,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2055:Cracr2a
|
UTSW |
6 |
127,585,564 (GRCm39) |
nonsense |
probably null |
|
|
R2270:Cracr2a
|
UTSW |
6 |
127,584,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2272:Cracr2a
|
UTSW |
6 |
127,584,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2915:Cracr2a
|
UTSW |
6 |
127,588,468 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4600:Cracr2a
|
UTSW |
6 |
127,580,851 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4767:Cracr2a
|
UTSW |
6 |
127,588,470 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5256:Cracr2a
|
UTSW |
6 |
127,580,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5657:Cracr2a
|
UTSW |
6 |
127,580,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5729:Cracr2a
|
UTSW |
6 |
127,584,199 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6437:Cracr2a
|
UTSW |
6 |
127,608,794 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6572:Cracr2a
|
UTSW |
6 |
127,585,715 (GRCm39) |
splice site |
probably null |
|
|
R6851:Cracr2a
|
UTSW |
6 |
127,585,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7177:Cracr2a
|
UTSW |
6 |
127,585,669 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7616:Cracr2a
|
UTSW |
6 |
127,585,660 (GRCm39) |
nonsense |
probably null |
|
|
R7809:Cracr2a
|
UTSW |
6 |
127,626,925 (GRCm39) |
missense |
probably benign |
|
|
R8030:Cracr2a
|
UTSW |
6 |
127,588,386 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8084:Cracr2a
|
UTSW |
6 |
127,616,135 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8731:Cracr2a
|
UTSW |
6 |
127,602,890 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8867:Cracr2a
|
UTSW |
6 |
127,606,736 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Cracr2a
|
UTSW |
6 |
127,646,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cracr2a
|
UTSW |
6 |
127,584,207 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGGAATCGGTGGTCCAGC -3'
(R):5'- TGGCTCTAAATGGGGCCATC -3'
Sequencing Primer
(F):5'- CCAGCTGGTGAGGGAGTTC -3'
(R):5'- TGCACTATATCCACAGGGCTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation