Incidental Mutation 'R8254:Brsk2'
| ID |
640654 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brsk2
|
| Ensembl Gene |
ENSMUSG00000053046 |
| Gene Name |
BR serine/threonine kinase 2 |
| Synonyms |
SAD-A, 4833424K13Rik |
| MMRRC Submission |
067680-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8254 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
141503488-141557981 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 141538153 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 100
(S100P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077330
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018971]
[ENSMUST00000075528]
[ENSMUST00000078200]
[ENSMUST00000105989]
[ENSMUST00000172652]
[ENSMUST00000173705]
[ENSMUST00000174309]
[ENSMUST00000174405]
[ENSMUST00000174499]
|
| AlphaFold |
Q69Z98 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018971
AA Change: S100P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000018971
Gene: ENSMUSG00000053046
AA Change: S100P
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
271 |
3.65e-99 |
SMART |
|
low complexity region
|
410 |
429 |
N/A |
INTRINSIC |
|
low complexity region
|
456 |
475 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075528
AA Change: S100P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000074969
Gene: ENSMUSG00000053046
AA Change: S100P
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
271 |
3.65e-99 |
SMART |
|
low complexity region
|
410 |
429 |
N/A |
INTRINSIC |
|
low complexity region
|
456 |
475 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078200
AA Change: S100P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077330
Gene: ENSMUSG00000053046
AA Change: S100P
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
271 |
3.65e-99 |
SMART |
|
low complexity region
|
410 |
429 |
N/A |
INTRINSIC |
|
low complexity region
|
456 |
475 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105989
AA Change: S100P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101610
Gene: ENSMUSG00000053046
AA Change: S100P
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
271 |
3.65e-99 |
SMART |
|
low complexity region
|
410 |
429 |
N/A |
INTRINSIC |
|
low complexity region
|
456 |
475 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172652
AA Change: S100P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133438
Gene: ENSMUSG00000053046
AA Change: S100P
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
271 |
3.65e-99 |
SMART |
|
low complexity region
|
432 |
451 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
497 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000133750
Gene: ENSMUSG00000053046
AA Change: S68P
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
3 |
240 |
6.78e-85 |
SMART |
|
low complexity region
|
379 |
398 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
444 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173705
|
| SMART Domains |
Protein: ENSMUSP00000134170
Gene: ENSMUSG00000053046
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
1 |
111 |
4.4e-10 |
PFAM |
|
Pfam:Pkinase
|
1 |
113 |
2e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173924
|
| SMART Domains |
Protein: ENSMUSP00000134153
Gene: ENSMUSG00000053046
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
1 |
98 |
3.7e-13 |
PFAM |
|
Pfam:Pkinase
|
1 |
209 |
2.6e-29 |
PFAM |
|
low complexity region
|
239 |
258 |
N/A |
INTRINSIC |
|
low complexity region
|
285 |
304 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174309
|
| SMART Domains |
Protein: ENSMUSP00000134310
Gene: ENSMUSG00000053046
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
82 |
7.1e-13 |
PFAM |
|
low complexity region
|
221 |
240 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
286 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174405
|
| SMART Domains |
Protein: ENSMUSP00000134289
Gene: ENSMUSG00000053046
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
20 |
92 |
1e-13 |
PFAM |
|
Pfam:Pkinase_Tyr
|
20 |
92 |
1.1e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174499
AA Change: S100P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000134201
Gene: ENSMUSG00000053046
AA Change: S100P
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
271 |
3.65e-99 |
SMART |
|
low complexity region
|
410 |
429 |
N/A |
INTRINSIC |
|
low complexity region
|
456 |
475 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3069 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (43/43) |
| MGI Phenotype |
PHENOTYPE: Homozygous mutant mice are healthy and fertile. Mice homozygous for a condition allele activated in sensory and motor neurons exhibit partial neonatal lethality, hypokinesis, absnece of gastric milk and abnormal type Ia proprioceptive sensory neuron projections [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
T |
C |
4: 144,182,760 (GRCm39) |
Y236C |
probably benign |
Het |
| Arhgef2 |
T |
C |
3: 88,549,910 (GRCm39) |
L655P |
probably damaging |
Het |
| Calb1 |
A |
G |
4: 15,898,926 (GRCm39) |
T141A |
probably benign |
Het |
| Cog6 |
T |
C |
3: 52,900,938 (GRCm39) |
T447A |
probably benign |
Het |
| Cyp4f13 |
A |
T |
17: 33,148,907 (GRCm39) |
N279K |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 117,842,259 (GRCm39) |
D4440G |
possibly damaging |
Het |
| Dspp |
A |
T |
5: 104,323,194 (GRCm39) |
E112D |
possibly damaging |
Het |
| Fam3c |
T |
A |
6: 22,328,675 (GRCm39) |
T71S |
possibly damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,846,774 (GRCm39) |
V1119A |
possibly damaging |
Het |
| Fdxr |
C |
A |
11: 115,162,144 (GRCm39) |
G188W |
probably damaging |
Het |
| Fndc5 |
T |
C |
4: 129,032,514 (GRCm39) |
V39A |
possibly damaging |
Het |
| Gm14226 |
T |
C |
2: 154,866,646 (GRCm39) |
I201T |
possibly damaging |
Het |
| Grip1 |
C |
T |
10: 119,890,810 (GRCm39) |
Q950* |
probably null |
Het |
| Haspin |
A |
T |
11: 73,027,572 (GRCm39) |
Y506N |
probably benign |
Het |
| Itga2b |
C |
A |
11: 102,358,212 (GRCm39) |
R171L |
probably benign |
Het |
| Kctd2 |
C |
T |
11: 115,311,174 (GRCm39) |
P61S |
unknown |
Het |
| Kirrel2 |
A |
G |
7: 30,149,801 (GRCm39) |
|
probably null |
Het |
| Ldc1 |
C |
A |
4: 130,114,136 (GRCm39) |
A94S |
probably benign |
Het |
| Lmx1b |
A |
G |
2: 33,455,126 (GRCm39) |
F310S |
|
Het |
| Map4k4 |
A |
T |
1: 40,045,835 (GRCm39) |
I574F |
probably damaging |
Het |
| Nrip1 |
T |
C |
16: 76,088,287 (GRCm39) |
K1090R |
probably benign |
Het |
| Ntrk3 |
T |
C |
7: 77,842,326 (GRCm39) |
Y820C |
probably damaging |
Het |
| Or5ac25 |
T |
A |
16: 59,182,534 (GRCm39) |
I16L |
probably benign |
Het |
| Or5b96 |
T |
C |
19: 12,867,849 (GRCm39) |
T31A |
probably benign |
Het |
| Pcdhb11 |
T |
C |
18: 37,555,242 (GRCm39) |
Y191H |
probably benign |
Het |
| Pgm5 |
T |
C |
19: 24,705,089 (GRCm39) |
K475E |
probably benign |
Het |
| Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
| Psd4 |
A |
T |
2: 24,293,223 (GRCm39) |
D696V |
probably damaging |
Het |
| Rere |
T |
C |
4: 150,697,129 (GRCm39) |
F556L |
unknown |
Het |
| Sema4f |
A |
T |
6: 82,894,382 (GRCm39) |
C528S |
probably damaging |
Het |
| Sorcs2 |
A |
G |
5: 36,195,550 (GRCm39) |
S680P |
probably benign |
Het |
| Sv2c |
T |
C |
13: 96,225,073 (GRCm39) |
T79A |
probably damaging |
Het |
| Tars3 |
A |
G |
7: 65,325,809 (GRCm39) |
N461S |
probably benign |
Het |
| Thada |
T |
C |
17: 84,533,468 (GRCm39) |
N1661S |
probably benign |
Het |
| Tubd1 |
A |
T |
11: 86,440,264 (GRCm39) |
Q96L |
probably damaging |
Het |
| Vmn2r72 |
T |
C |
7: 85,400,227 (GRCm39) |
D274G |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,709,882 (GRCm39) |
|
probably benign |
Het |
| Vwce |
C |
A |
19: 10,627,938 (GRCm39) |
S466Y |
probably damaging |
Het |
| Wdr11 |
T |
C |
7: 129,236,560 (GRCm39) |
I1178T |
probably benign |
Het |
| Zfp568 |
A |
T |
7: 29,714,558 (GRCm39) |
H145L |
probably benign |
Het |
| Zfp606 |
T |
C |
7: 12,226,788 (GRCm39) |
I303T |
possibly damaging |
Het |
| Zfp846 |
A |
G |
9: 20,504,587 (GRCm39) |
D149G |
probably benign |
Het |
|
| Other mutations in Brsk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01576:Brsk2
|
APN |
7 |
141,535,292 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02243:Brsk2
|
APN |
7 |
141,547,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0400:Brsk2
|
UTSW |
7 |
141,552,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0609:Brsk2
|
UTSW |
7 |
141,552,229 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0972:Brsk2
|
UTSW |
7 |
141,547,441 (GRCm39) |
splice site |
probably benign |
|
|
R1699:Brsk2
|
UTSW |
7 |
141,539,200 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3928:Brsk2
|
UTSW |
7 |
141,552,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5357:Brsk2
|
UTSW |
7 |
141,538,248 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5411:Brsk2
|
UTSW |
7 |
141,554,594 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5461:Brsk2
|
UTSW |
7 |
141,541,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6813:Brsk2
|
UTSW |
7 |
141,556,214 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6966:Brsk2
|
UTSW |
7 |
141,538,270 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7560:Brsk2
|
UTSW |
7 |
141,554,597 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7810:Brsk2
|
UTSW |
7 |
141,539,157 (GRCm39) |
splice site |
probably null |
|
|
R7922:Brsk2
|
UTSW |
7 |
141,546,957 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8336:Brsk2
|
UTSW |
7 |
141,538,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8798:Brsk2
|
UTSW |
7 |
141,541,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8859:Brsk2
|
UTSW |
7 |
141,552,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9225:Brsk2
|
UTSW |
7 |
141,547,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9296:Brsk2
|
UTSW |
7 |
141,552,375 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9347:Brsk2
|
UTSW |
7 |
141,552,133 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9445:Brsk2
|
UTSW |
7 |
141,538,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9466:Brsk2
|
UTSW |
7 |
141,536,800 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9494:Brsk2
|
UTSW |
7 |
141,555,955 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9516:Brsk2
|
UTSW |
7 |
141,546,852 (GRCm39) |
missense |
probably benign |
0.29 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTCCATATGATCTTCACTAGGAC -3'
(R):5'- GCTCCTGGTTGCCTTTCAAG -3'
Sequencing Primer
(F):5'- ATGATCTTCACTAGGACCTAGCTG -3'
(R):5'- TTTCAAGGCCTAGACAAAGCC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation