Incidental Mutation 'R3928:Brsk2'
| ID |
308372 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brsk2
|
| Ensembl Gene |
ENSMUSG00000053046 |
| Gene Name |
BR serine/threonine kinase 2 |
| Synonyms |
SAD-A, 4833424K13Rik |
| MMRRC Submission |
040823-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3928 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
141503488-141557981 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 141552155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 108
(F108S)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018971]
[ENSMUST00000075528]
[ENSMUST00000078200]
[ENSMUST00000105989]
[ENSMUST00000172652]
[ENSMUST00000174499]
[ENSMUST00000174237]
[ENSMUST00000174309]
[ENSMUST00000173705]
[ENSMUST00000174405]
|
| AlphaFold |
Q69Z98 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018971
AA Change: F571S
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000018971
Gene: ENSMUSG00000053046
AA Change: F571S
| 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 |
possibly damaging
Transcript: ENSMUST00000075528
AA Change: F571S
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000074969
Gene: ENSMUSG00000053046
AA Change: F571S
| 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 |
possibly damaging
Transcript: ENSMUST00000078200
AA Change: F571S
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000077330
Gene: ENSMUSG00000053046
AA Change: F571S
| 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 |
possibly damaging
Transcript: ENSMUST00000105989
AA Change: F571S
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000101610
Gene: ENSMUSG00000053046
AA Change: F571S
| 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 |
possibly damaging
Transcript: ENSMUST00000172652
AA Change: F593S
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000133438
Gene: ENSMUSG00000053046
AA Change: F593S
| 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 |
possibly damaging
Transcript: ENSMUST00000172967
AA Change: F539S
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133750
Gene: ENSMUSG00000053046
AA Change: F539S
| 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 |
noncoding transcript
Transcript: ENSMUST00000173285
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174499
AA Change: F571S
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000134201
Gene: ENSMUSG00000053046
AA Change: F571S
| 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 |
noncoding transcript
Transcript: ENSMUST00000173330
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173313
AA Change: F108S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133868
Gene: ENSMUSG00000053046
AA Change: F108S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
|
Blast:S_TKc
|
14 |
61 |
3e-21 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173924
AA Change: F399S
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134153
Gene: ENSMUSG00000053046
AA Change: F399S
| 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 damaging
Transcript: ENSMUST00000174237
AA Change: F127S
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000134566
Gene: ENSMUSG00000053046
AA Change: F127S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
31 |
N/A |
INTRINSIC |
|
Blast:S_TKc
|
32 |
79 |
6e-21 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174309
AA Change: F382S
PolyPhen 2
Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000134310
Gene: ENSMUSG00000053046
AA Change: F382S
| 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 |
noncoding transcript
Transcript: ENSMUST00000210065
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173941
|
| 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: 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 |
|
| Meta Mutation Damage Score |
0.8936 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
100% (48/48) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abr |
A |
T |
11: 76,359,561 (GRCm39) |
H181Q |
probably benign |
Het |
| Atrx |
T |
C |
X: 104,923,523 (GRCm39) |
I157V |
possibly damaging |
Het |
| Birc6 |
A |
G |
17: 74,918,170 (GRCm39) |
D1856G |
possibly damaging |
Het |
| Birc6 |
A |
G |
17: 74,945,404 (GRCm39) |
T2811A |
probably damaging |
Het |
| Clasp2 |
C |
A |
9: 113,735,173 (GRCm39) |
H1004N |
probably benign |
Het |
| Cntd1 |
G |
A |
11: 101,178,345 (GRCm39) |
V315I |
probably benign |
Het |
| Col13a1 |
A |
G |
10: 61,703,304 (GRCm39) |
|
probably benign |
Het |
| Ctps1 |
T |
A |
4: 120,399,093 (GRCm39) |
H553L |
probably benign |
Het |
| Dpysl2 |
A |
G |
14: 67,061,880 (GRCm39) |
I242T |
possibly damaging |
Het |
| Exoc3l |
C |
T |
8: 106,017,549 (GRCm39) |
|
probably benign |
Het |
| Fam229a |
A |
G |
4: 129,385,204 (GRCm39) |
|
probably benign |
Het |
| Fshr |
C |
T |
17: 89,292,962 (GRCm39) |
R572H |
probably damaging |
Het |
| Gm5501 |
A |
G |
18: 9,917,267 (GRCm39) |
|
noncoding transcript |
Het |
| Gmpr |
A |
G |
13: 45,683,223 (GRCm39) |
I165V |
probably benign |
Het |
| Gnat3 |
G |
A |
5: 18,208,892 (GRCm39) |
|
probably benign |
Het |
| H1f8 |
A |
G |
6: 115,925,757 (GRCm39) |
K185E |
probably benign |
Het |
| H2-Q4 |
T |
G |
17: 35,598,666 (GRCm39) |
L16R |
unknown |
Het |
| Hs2st1 |
T |
C |
3: 144,140,389 (GRCm39) |
K311E |
possibly damaging |
Het |
| Kcnj15 |
A |
G |
16: 95,097,368 (GRCm39) |
E330G |
possibly damaging |
Het |
| Kif3a |
A |
G |
11: 53,461,441 (GRCm39) |
K29E |
probably benign |
Het |
| Krtap4-1 |
A |
G |
11: 99,518,983 (GRCm39) |
V9A |
unknown |
Het |
| Lmntd2 |
C |
T |
7: 140,791,117 (GRCm39) |
G432S |
probably damaging |
Het |
| Me3 |
T |
C |
7: 89,482,898 (GRCm39) |
|
probably benign |
Het |
| Myo1d |
G |
T |
11: 80,375,087 (GRCm39) |
R996S |
probably benign |
Het |
| Myo9a |
T |
A |
9: 59,802,566 (GRCm39) |
W2018R |
probably damaging |
Het |
| Nphp3 |
G |
T |
9: 103,888,929 (GRCm39) |
V265F |
probably damaging |
Het |
| Or10ak9 |
T |
C |
4: 118,726,179 (GRCm39) |
L66P |
probably damaging |
Het |
| Or5p67 |
A |
G |
7: 107,922,232 (GRCm39) |
I217T |
probably benign |
Het |
| Or8c16 |
T |
C |
9: 38,130,131 (GRCm39) |
M1T |
probably null |
Het |
| Pgp |
A |
G |
17: 24,690,315 (GRCm39) |
E247G |
probably damaging |
Het |
| Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
| Plch1 |
G |
A |
3: 63,675,044 (GRCm39) |
A202V |
probably damaging |
Het |
| Rbm11 |
G |
A |
16: 75,389,932 (GRCm39) |
|
probably null |
Het |
| Scg5 |
T |
C |
2: 113,622,230 (GRCm39) |
K124R |
probably damaging |
Het |
| Serpina3j |
A |
T |
12: 104,285,916 (GRCm39) |
H357L |
probably damaging |
Het |
| St6gal2 |
A |
G |
17: 55,803,324 (GRCm39) |
D353G |
possibly damaging |
Het |
| Tdpoz3 |
T |
C |
3: 93,734,216 (GRCm39) |
I297T |
possibly damaging |
Het |
| Tdrd5 |
G |
A |
1: 156,128,348 (GRCm39) |
T136I |
probably benign |
Het |
| Tfcp2l1 |
T |
A |
1: 118,597,206 (GRCm39) |
I429K |
possibly damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
| Top1 |
T |
C |
2: 160,529,669 (GRCm39) |
|
probably benign |
Het |
| Trim61 |
A |
G |
8: 65,465,969 (GRCm39) |
F431L |
probably benign |
Het |
| Trmo |
C |
T |
4: 46,382,647 (GRCm39) |
G150S |
probably damaging |
Het |
| Vmn1r183 |
T |
C |
7: 23,754,997 (GRCm39) |
S267P |
probably damaging |
Het |
| Xirp2 |
T |
A |
2: 67,342,013 (GRCm39) |
F1418Y |
possibly damaging |
Het |
| Zfp114 |
T |
C |
7: 23,880,467 (GRCm39) |
V271A |
possibly damaging |
Het |
| Zfp710 |
A |
G |
7: 79,731,134 (GRCm39) |
R104G |
probably damaging |
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 |
|
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 |
|
R8254:Brsk2
|
UTSW |
7 |
141,538,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TCTGAAGTGAGTTTCTTGCCAC -3'
(R):5'- GTGAGAGTCAAACAGCCACC -3'
Sequencing Primer
(F):5'- CATGCTTGGTTCTCAAAATTGGAG -3'
(R):5'- CAAGTGGGTTGGCTTACCTGAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation