Incidental Mutation 'R7922:Brsk2'
ID648452
Institutional Source Beutler Lab
Gene Symbol Brsk2
Ensembl Gene ENSMUSG00000053046
Gene NameBR serine/threonine kinase 2
Synonyms4833424K13Rik, SAD-A
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7922 (G1)
Quality Score225.009
Status Not validated
Chromosome7
Chromosomal Location141949751-142004247 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 141993220 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 467 (S467T)
Ref Sequence ENSEMBL: ENSMUSP00000077330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018971] [ENSMUST00000075528] [ENSMUST00000078200] [ENSMUST00000105989] [ENSMUST00000172652] [ENSMUST00000173705] [ENSMUST00000174237] [ENSMUST00000174309] [ENSMUST00000174405] [ENSMUST00000174499]
Predicted Effect probably benign
Transcript: ENSMUST00000018971
AA Change: S467T

PolyPhen 2 Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000018971
Gene: ENSMUSG00000053046
AA Change: S467T

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 possibly damaging
Transcript: ENSMUST00000075528
AA Change: S467T

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000074969
Gene: ENSMUSG00000053046
AA Change: S467T

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 possibly damaging
Transcript: ENSMUST00000078200
AA Change: S467T

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000077330
Gene: ENSMUSG00000053046
AA Change: S467T

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 possibly damaging
Transcript: ENSMUST00000105989
AA Change: S467T

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101610
Gene: ENSMUSG00000053046
AA Change: S467T

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 possibly damaging
Transcript: ENSMUST00000172652
AA Change: S489T

PolyPhen 2 Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000133438
Gene: ENSMUSG00000053046
AA Change: S489T

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
SMART Domains Protein: ENSMUSP00000133750
Gene: ENSMUSG00000053046
AA Change: S435T

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
SMART Domains Protein: ENSMUSP00000133868
Gene: ENSMUSG00000053046
AA Change: S4T

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
Blast:S_TKc 14 61 3e-21 BLAST
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
SMART Domains Protein: ENSMUSP00000134153
Gene: ENSMUSG00000053046
AA Change: S295T

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 possibly damaging
Transcript: ENSMUST00000174237
AA Change: S23T

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134566
Gene: ENSMUSG00000053046
AA Change: S23T

DomainStartEndE-ValueType
low complexity region 12 31 N/A INTRINSIC
Blast:S_TKc 32 79 6e-21 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000174309
AA Change: S278T

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000134310
Gene: ENSMUSG00000053046
AA Change: S278T

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: 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
Predicted Effect possibly damaging
Transcript: ENSMUST00000174499
AA Change: S467T

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134201
Gene: ENSMUSG00000053046
AA Change: S467T

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik C T 12: 71,164,406 T638M possibly damaging Het
4930546C10Rik A G 18: 68,949,996 probably null Het
Abi3 A T 11: 95,832,793 Y342N unknown Het
Adk G A 14: 21,318,043 V195I probably benign Het
Ago2 C T 15: 73,126,526 V268M possibly damaging Het
Apaf1 T C 10: 90,999,753 I1077V probably benign Het
Arap1 A T 7: 101,404,414 K1317* probably null Het
Auts2 T A 5: 131,440,373 D493V Het
Baz1b A T 5: 135,231,679 Q1110L probably damaging Het
Btbd9 A T 17: 30,274,884 M511K probably benign Het
Cdh23 T A 10: 60,382,706 Y1385F probably benign Het
Cfap100 A C 6: 90,403,980 L427V unknown Het
Cnga1 A G 5: 72,604,882 F430L possibly damaging Het
Dnhd1 A T 7: 105,668,514 D472V probably damaging Het
Dock2 T A 11: 34,707,327 E339V probably benign Het
Eif3a A T 19: 60,775,842 V379E probably damaging Het
Erich4 T A 7: 25,615,743 N36Y probably damaging Het
Fam60a T A 6: 148,926,146 T125S probably benign Het
Frem2 T C 3: 53,653,304 T1261A probably damaging Het
Fzd6 A T 15: 39,031,108 D223V probably damaging Het
Gabra2 A T 5: 71,007,972 Y218* probably null Het
Gcn1l1 G T 5: 115,614,468 M2177I probably benign Het
Ghr G A 15: 3,341,074 T103I possibly damaging Het
Gipc1 T C 8: 83,661,228 V79A probably benign Het
Gm10031 A T 1: 156,524,992 L254F probably damaging Het
Gm13272 T A 4: 88,780,340 V164D probably damaging Het
Gramd4 C A 15: 86,131,958 H503Q probably benign Het
Gstm4 A T 3: 108,044,671 M1K probably null Het
Heatr5b T A 17: 78,760,559 Q1800L probably benign Het
Hectd1 T A 12: 51,790,195 K826* probably null Het
Hoxa9 T C 6: 52,224,309 I251V possibly damaging Het
Il2ra A T 2: 11,674,366 I46F possibly damaging Het
Ints2 T A 11: 86,244,627 R320S probably benign Het
Iscu A T 5: 113,774,282 N46I probably damaging Het
Iscu G A 5: 113,774,349 R60Q unknown Het
Kcnk3 A T 5: 30,588,531 H72L probably damaging Het
Kmt2a T G 9: 44,842,860 S1228R unknown Het
Mbl2 T A 19: 30,239,238 L150Q probably damaging Het
Med13 A T 11: 86,271,005 F2166Y probably damaging Het
Mterf4 A C 1: 93,301,553 L246* probably null Het
Muc16 T C 9: 18,584,825 Q6690R probably benign Het
Myh10 T A 11: 68,808,893 L1722Q possibly damaging Het
Neurod2 T C 11: 98,327,628 M237V probably benign Het
Olfml1 A G 7: 107,571,149 Y81C probably damaging Het
Olfr735 A G 14: 50,346,415 V9A probably benign Het
Pcdhga7 A T 18: 37,716,173 N411I probably benign Het
Pcdhgb8 T C 18: 37,763,949 F691L probably benign Het
Pik3c2a A G 7: 116,391,282 V481A probably damaging Het
Pik3r6 A T 11: 68,533,875 R435S probably benign Het
Pkd1l1 G A 11: 8,849,013 H2250Y Het
Pkd1l1 A G 11: 8,909,857 S1034P Het
Plcd1 C A 9: 119,074,652 R400L possibly damaging Het
Ppp2r1a A G 17: 20,954,617 T58A probably benign Het
Ppp5c T C 7: 17,027,800 E5G possibly damaging Het
Pradc1 A C 6: 85,447,968 F82L probably benign Het
Prkag3 A T 1: 74,741,257 S416R probably benign Het
Rab3gap2 T C 1: 185,249,920 C390R probably benign Het
Rhot1 A G 11: 80,265,803 T655A probably benign Het
Rorc A G 3: 94,391,188 I348V probably damaging Het
Ryr1 A T 7: 29,097,224 V1051E probably benign Het
Sema5b GCAC GC 16: 35,658,256 probably null Het
Serpinb3c G A 1: 107,272,014 T259I probably damaging Het
Sh3gl1 A T 17: 56,019,438 M70K probably damaging Het
Slc7a4 C T 16: 17,573,366 V607I probably benign Het
Spop A T 11: 95,471,328 N62Y probably damaging Het
Spout1 A G 2: 30,176,811 F130S probably benign Het
Tab1 A G 15: 80,158,865 H420R possibly damaging Het
Tecpr2 CA C 12: 110,932,642 probably null Het
Tnxb G C 17: 34,714,603 K2332N probably damaging Het
Togaram1 T C 12: 64,967,738 Y588H probably damaging Het
Trim71 G A 9: 114,513,085 R710C probably damaging Het
Tsen54 C T 11: 115,820,782 Q342* probably null Het
Ube2r2 T A 4: 41,190,812 N235K unknown Het
Utrn C A 10: 12,667,527 K1792N possibly damaging Het
Vmn1r122 A G 7: 21,133,662 I156T possibly damaging Het
Vmn1r94 T C 7: 20,167,711 T223A possibly damaging Het
Vmn2r120 G A 17: 57,524,683 R369W probably damaging Het
Vwa7 G T 17: 35,024,433 A717S possibly damaging Het
Zc3h4 T A 7: 16,425,722 C398S unknown Het
Zc3hc1 T A 6: 30,390,875 E43V possibly damaging Het
Zfp101 A T 17: 33,381,537 V415D possibly damaging Het
Zfp553 A G 7: 127,236,596 H441R probably damaging Het
Other mutations in Brsk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01576:Brsk2 APN 7 141981555 missense possibly damaging 0.53
IGL02243:Brsk2 APN 7 141993299 missense probably damaging 1.00
R0400:Brsk2 UTSW 7 141998553 missense probably damaging 1.00
R0609:Brsk2 UTSW 7 141998492 missense probably damaging 0.99
R0972:Brsk2 UTSW 7 141993704 splice site probably benign
R1699:Brsk2 UTSW 7 141985463 missense probably damaging 0.97
R3928:Brsk2 UTSW 7 141998418 missense probably damaging 1.00
R5357:Brsk2 UTSW 7 141984511 missense possibly damaging 0.55
R5411:Brsk2 UTSW 7 142000857 missense probably benign 0.03
R5461:Brsk2 UTSW 7 141987906 missense probably damaging 1.00
R6813:Brsk2 UTSW 7 142002477 missense probably benign 0.00
R6966:Brsk2 UTSW 7 141984533 missense possibly damaging 0.48
R7560:Brsk2 UTSW 7 142000860 missense probably benign 0.00
R7810:Brsk2 UTSW 7 141985420 splice site probably null
R8254:Brsk2 UTSW 7 141984416 missense probably damaging 1.00
R8336:Brsk2 UTSW 7 141984474 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGACTCAGACCTTGCCGTG -3'
(R):5'- GTTCCATCTGAGCAGTGCAAG -3'

Sequencing Primer
(F):5'- TGCAAGGCCAAGCTGAC -3'
(R):5'- AGACCCCCTGTGCAGATTC -3'
Posted On2020-09-15