Incidental Mutation 'R5411:Brsk2'
ID 427478
Institutional Source Beutler Lab
Gene Symbol Brsk2
Ensembl Gene ENSMUSG00000053046
Gene Name BR serine/threonine kinase 2
Synonyms SAD-A, 4833424K13Rik
MMRRC Submission 042980-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5411 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 141503488-141557981 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 141554594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 653 (M653T)
Ref Sequence ENSEMBL: ENSMUSP00000134201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018971] [ENSMUST00000075528] [ENSMUST00000078200] [ENSMUST00000105989] [ENSMUST00000172652] [ENSMUST00000174499] [ENSMUST00000174309] [ENSMUST00000173705] [ENSMUST00000174237] [ENSMUST00000174405]
AlphaFold Q69Z98
Predicted Effect probably benign
Transcript: ENSMUST00000018971
SMART Domains Protein: ENSMUSP00000018971
Gene: ENSMUSG00000053046

DomainStartEndE-ValueType
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: M653T

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000074969
Gene: ENSMUSG00000053046
AA Change: M653T

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000077330
Gene: ENSMUSG00000053046

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000101610
Gene: ENSMUSG00000053046

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000133438
Gene: ENSMUSG00000053046

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000172967
SMART Domains Protein: ENSMUSP00000133750
Gene: ENSMUSG00000053046

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000173941
AA Change: M26T
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173285
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173330
Predicted Effect probably benign
Transcript: ENSMUST00000174499
AA Change: M653T

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000134201
Gene: ENSMUSG00000053046
AA Change: M653T

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000173313
AA Change: M190T
SMART Domains Protein: ENSMUSP00000133868
Gene: ENSMUSG00000053046
AA Change: M190T

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
Blast:S_TKc 14 61 3e-21 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210065
Predicted Effect probably benign
Transcript: ENSMUST00000174309
SMART Domains Protein: ENSMUSP00000134310
Gene: ENSMUSG00000053046

DomainStartEndE-ValueType
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: ENSMUST00000173705
SMART Domains Protein: ENSMUSP00000134170
Gene: ENSMUSG00000053046

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000174237
SMART Domains Protein: ENSMUSP00000134566
Gene: ENSMUSG00000053046

DomainStartEndE-ValueType
low complexity region 12 31 N/A INTRINSIC
Blast:S_TKc 32 79 6e-21 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000174405
SMART Domains Protein: ENSMUSP00000134289
Gene: ENSMUSG00000053046

DomainStartEndE-ValueType
Pfam:Pkinase 20 92 1e-13 PFAM
Pfam:Pkinase_Tyr 20 92 1.1e-8 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 C A 9: 53,493,946 (GRCm39) V392F probably damaging Het
Ache C T 5: 137,288,326 (GRCm39) P11S possibly damaging Het
Ache T A 5: 137,288,692 (GRCm39) probably null Het
Acoxl A T 2: 127,696,821 (GRCm39) H23L probably benign Het
Adamtsl1 G A 4: 86,306,650 (GRCm39) probably null Het
Adar T A 3: 89,646,519 (GRCm39) F45I probably benign Het
Adgrf4 A C 17: 42,978,104 (GRCm39) L413R probably damaging Het
Atp6v1g3 A T 1: 138,215,627 (GRCm39) I96F probably benign Het
Cacna1s G T 1: 136,033,549 (GRCm39) V1275L probably benign Het
Ces3b T C 8: 105,815,264 (GRCm39) V5A possibly damaging Het
Chpt1 A T 10: 88,312,969 (GRCm39) I281N probably damaging Het
Col10a1 A G 10: 34,270,553 (GRCm39) E175G probably damaging Het
Col27a1 T C 4: 63,142,902 (GRCm39) S197P probably damaging Het
Csmd1 T A 8: 15,960,471 (GRCm39) R3315W probably damaging Het
Ctnna2 T C 6: 77,091,914 (GRCm39) E443G probably damaging Het
Dhx9 G T 1: 153,356,969 (GRCm39) S93R probably benign Het
Efcab8 A G 2: 153,625,676 (GRCm39) H112R probably damaging Het
Eif3d A T 15: 77,843,887 (GRCm39) N486K probably damaging Het
Esp8 C T 17: 40,840,909 (GRCm39) R57* probably null Het
Eya3 A T 4: 132,417,090 (GRCm39) I130F probably damaging Het
Fat2 G T 11: 55,143,052 (GRCm39) L4266I probably benign Het
Fras1 T A 5: 96,793,019 (GRCm39) D983E probably benign Het
Gcc2 T C 10: 58,106,791 (GRCm39) S640P probably damaging Het
Gys2 C T 6: 142,394,147 (GRCm39) G464R probably damaging Het
Heatr5a G A 12: 51,935,026 (GRCm39) T1659I probably damaging Het
Il17ra A G 6: 120,458,403 (GRCm39) D518G probably damaging Het
Kcnk13 A G 12: 100,027,510 (GRCm39) Y195C probably damaging Het
Kmt2a T A 9: 44,759,782 (GRCm39) H722L probably damaging Het
Luzp1 C A 4: 136,270,653 (GRCm39) Q959K possibly damaging Het
Mep1b T A 18: 21,219,306 (GRCm39) H153Q probably damaging Het
Mfsd13b A T 7: 120,599,346 (GRCm39) I381F probably benign Het
Mvk A G 5: 114,597,034 (GRCm39) T334A probably benign Het
Naa30 T C 14: 49,425,008 (GRCm39) V320A probably damaging Het
Naip5 C T 13: 100,382,254 (GRCm39) G152S possibly damaging Het
Neb A C 2: 52,185,384 (GRCm39) S949R probably damaging Het
Nfya A T 17: 48,699,046 (GRCm39) I214N possibly damaging Het
Nsf G T 11: 103,773,637 (GRCm39) N292K probably damaging Het
Nup133 T C 8: 124,653,945 (GRCm39) T505A probably benign Het
Or4c1 A C 2: 89,133,920 (GRCm39) S5R probably benign Het
Or4p7 A G 2: 88,221,605 (GRCm39) T5A probably benign Het
Or5h24 T A 16: 58,919,067 (GRCm39) H96L unknown Het
Or9s23 A T 1: 92,501,546 (GRCm39) T218S probably benign Het
P4ha3 A T 7: 99,943,022 (GRCm39) R136W probably damaging Het
Parp12 A G 6: 39,067,142 (GRCm39) V550A probably damaging Het
Phf11a T C 14: 59,532,387 (GRCm39) D16G probably benign Het
Pramel31 T A 4: 144,088,207 (GRCm39) M1K probably null Het
Rab3gap2 A G 1: 185,009,342 (GRCm39) probably null Het
Sco1 A G 11: 66,954,784 (GRCm39) D263G probably damaging Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Homo
Sfpq T A 4: 126,915,516 (GRCm39) S103T unknown Het
Shisa7 G A 7: 4,832,975 (GRCm39) R263C probably damaging Het
Ssc4d T A 5: 135,992,254 (GRCm39) D144V probably benign Het
Stxbp5l G A 16: 36,950,213 (GRCm39) P1044L probably damaging Het
Tgm6 G A 2: 129,987,116 (GRCm39) R528Q probably benign Het
Tlr3 A T 8: 45,849,992 (GRCm39) H892Q probably benign Het
Tmc2 A G 2: 130,082,035 (GRCm39) H406R probably damaging Het
Tmtc1 A T 6: 148,345,397 (GRCm39) probably null Het
Ttc19 A G 11: 62,174,977 (GRCm39) I139M probably benign Het
Utrn G A 10: 12,524,929 (GRCm39) R2185C probably benign Het
Wdfy4 T C 14: 32,681,959 (GRCm39) N3004S probably damaging Het
Wdr3 C A 3: 100,050,300 (GRCm39) G746W probably damaging Het
Zfp335 T A 2: 164,744,165 (GRCm39) Q500L probably damaging Het
Zfp804b A T 5: 6,820,071 (GRCm39) D961E probably benign Het
Zkscan16 CTTCAGCTTTCA CTTCA 4: 58,956,745 (GRCm39) probably null Het
Other mutations in Brsk2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CTAACCCCTTTGGACTCTGG -3'
(R):5'- TAGCCTGATTGTAGAAATGGGG -3'

Sequencing Primer
(F):5'- TCTGGCCACTCCTGGATCAG -3'
(R):5'- CTACTCTTGGCAGAAGATGGGGC -3'
Posted On 2016-09-01