Incidental Mutation 'R9466:Brsk2'
| ID |
715166 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brsk2
|
| Ensembl Gene |
ENSMUSG00000053046 |
| Gene Name |
BR serine/threonine kinase 2 |
| Synonyms |
SAD-A, 4833424K13Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9466 (G1)
|
| Quality Score |
181.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
141503488-141557981 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 141536800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 91
(Y91F)
|
| 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 benign
Transcript: ENSMUST00000018971
AA Change: Y91F
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000018971
Gene: ENSMUSG00000053046
AA Change: Y91F
| 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 benign
Transcript: ENSMUST00000075528
AA Change: Y91F
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000074969
Gene: ENSMUSG00000053046
AA Change: Y91F
| 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 benign
Transcript: ENSMUST00000078200
AA Change: Y91F
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000077330
Gene: ENSMUSG00000053046
AA Change: Y91F
| 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 benign
Transcript: ENSMUST00000105989
AA Change: Y91F
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000101610
Gene: ENSMUSG00000053046
AA Change: Y91F
| 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 benign
Transcript: ENSMUST00000172652
AA Change: Y91F
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000133438
Gene: ENSMUSG00000053046
AA Change: Y91F
| 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: Y59F
| 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
AA Change: Y91F
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000134289
Gene: ENSMUSG00000053046
AA Change: Y91F
| 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 benign
Transcript: ENSMUST00000174499
AA Change: Y91F
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000134201
Gene: ENSMUSG00000053046
AA Change: Y91F
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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 |
|---|
| Acox2 |
A |
G |
14: 8,248,092 (GRCm38) |
S397P |
probably benign |
Het |
| Arhgef28 |
T |
A |
13: 98,124,825 (GRCm39) |
S486C |
|
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Atp8b2 |
A |
T |
3: 89,851,484 (GRCm39) |
Y928N |
probably benign |
Het |
| Brip1 |
T |
C |
11: 86,048,584 (GRCm39) |
T253A |
possibly damaging |
Het |
| C7 |
C |
T |
15: 5,044,884 (GRCm39) |
V385I |
probably benign |
Het |
| Cdk5rap1 |
C |
A |
2: 154,192,756 (GRCm39) |
V414F |
possibly damaging |
Het |
| Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
| Cyp2d26 |
A |
T |
15: 82,674,424 (GRCm39) |
M486K |
probably benign |
Het |
| Dchs2 |
G |
T |
3: 83,176,564 (GRCm39) |
A841S |
probably damaging |
Het |
| Dnajb1 |
T |
G |
8: 84,337,384 (GRCm39) |
V320G |
probably damaging |
Het |
| Dusp10 |
T |
C |
1: 183,769,234 (GRCm39) |
S67P |
probably damaging |
Het |
| Epha8 |
T |
C |
4: 136,662,414 (GRCm39) |
T548A |
probably benign |
Het |
| Grhl3 |
A |
T |
4: 135,283,412 (GRCm39) |
S276T |
probably benign |
Het |
| Hspd1 |
A |
T |
1: 55,119,483 (GRCm39) |
N331K |
probably benign |
Het |
| Ikbke |
T |
A |
1: 131,193,445 (GRCm39) |
Q519L |
probably damaging |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Kdm4b |
A |
C |
17: 56,696,548 (GRCm39) |
E421D |
probably benign |
Het |
| Krt6b |
A |
T |
15: 101,586,027 (GRCm39) |
Y349N |
probably damaging |
Het |
| Larp1 |
T |
C |
11: 57,943,461 (GRCm39) |
S845P |
possibly damaging |
Het |
| Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
| Nup98 |
G |
A |
7: 101,818,611 (GRCm39) |
S473L |
probably benign |
Het |
| Or10w1 |
T |
A |
19: 13,631,796 (GRCm39) |
M1K |
probably null |
Het |
| Or14c45 |
C |
G |
7: 86,176,080 (GRCm39) |
F38L |
probably benign |
Het |
| Or8g28 |
T |
A |
9: 39,169,491 (GRCm39) |
H159L |
possibly damaging |
Het |
| Ovgp1 |
G |
A |
3: 105,887,484 (GRCm39) |
R265H |
|
Het |
| Pgap3 |
C |
T |
11: 98,289,796 (GRCm39) |
R65Q |
probably benign |
Het |
| Pip5k1c |
C |
A |
10: 81,152,710 (GRCm39) |
|
probably benign |
Het |
| Plcg1 |
C |
A |
2: 160,596,520 (GRCm39) |
H680N |
probably benign |
Het |
| Pnliprp1 |
A |
T |
19: 58,723,081 (GRCm39) |
D194V |
probably damaging |
Het |
| Pramel1 |
A |
G |
4: 143,123,799 (GRCm39) |
D158G |
probably benign |
Het |
| Prkd2 |
A |
T |
7: 16,589,696 (GRCm39) |
H466L |
probably damaging |
Het |
| Prkd3 |
T |
C |
17: 79,264,049 (GRCm39) |
I683V |
probably damaging |
Het |
| Prrc2c |
A |
T |
1: 162,503,258 (GRCm39) |
H2734Q |
possibly damaging |
Het |
| Scnn1b |
A |
T |
7: 121,502,013 (GRCm39) |
I224F |
probably damaging |
Het |
| Sis |
A |
T |
3: 72,872,910 (GRCm39) |
|
probably null |
Het |
| Syt15 |
C |
T |
14: 33,942,991 (GRCm39) |
L17F |
probably damaging |
Het |
| Tenm4 |
T |
C |
7: 96,199,252 (GRCm39) |
F15S |
possibly damaging |
Het |
| Thsd7b |
A |
G |
1: 130,122,866 (GRCm39) |
K1495R |
probably benign |
Het |
| Ttc28 |
T |
C |
5: 111,330,895 (GRCm39) |
S372P |
probably damaging |
Het |
| Vmn1r68 |
A |
T |
7: 10,261,317 (GRCm39) |
Y260* |
probably null |
Het |
| Vmn1r68 |
A |
G |
7: 10,261,417 (GRCm39) |
V227A |
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 |
|
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 |
|
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 |
|
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'- ATGCAGCTCAGCCCCAAATG -3'
(R):5'- GAAGTCCTTCTCAGCATTGGC -3'
Sequencing Primer
(F):5'- TGCAGTGTCACAACCATAGG -3'
(R):5'- ATTGGCCTCAAGTTAACAGCCTG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation