Mutagenetix > Incidental Mutation

Incidental Mutation 'R0972:Brsk2'

82872

Institutional Source

Beutler Lab

Gene Symbol

Brsk2

Ensembl Gene

ENSMUSG00000053046

Gene Name

BR serine/threonine kinase 2

Synonyms

SAD-A, 4833424K13Rik

MMRRC Submission

039101-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0972 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141503488-141557981 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to G at 141547441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134201 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018971] [ENSMUST00000075528] [ENSMUST00000078200] [ENSMUST00000105989] [ENSMUST00000172652] [ENSMUST00000174499] [ENSMUST00000174405] [ENSMUST00000174309] [ENSMUST00000173705] [ENSMUST00000174237]

AlphaFold

Q69Z98

Predicted Effect

probably benign
Transcript: ENSMUST00000018971

SMART Domains

Protein: ENSMUSP00000018971
Gene: ENSMUSG00000053046

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

SMART Domains

Protein: ENSMUSP00000074969
Gene: ENSMUSG00000053046

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

SMART Domains

Protein: ENSMUSP00000077330
Gene: ENSMUSG00000053046

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

SMART Domains

Protein: ENSMUSP00000101610
Gene: ENSMUSG00000053046

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

SMART Domains

Protein: ENSMUSP00000133438
Gene: ENSMUSG00000053046

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

probably benign
Transcript: ENSMUST00000172967

SMART Domains

Protein: ENSMUSP00000133750
Gene: ENSMUSG00000053046

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

probably benign
Transcript: ENSMUST00000174499

SMART Domains

Protein: ENSMUSP00000134201
Gene: ENSMUSG00000053046

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: 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 benign
Transcript: ENSMUST00000173313

SMART Domains

Protein: ENSMUSP00000133868
Gene: ENSMUSG00000053046

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 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: 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: ENSMUST00000174237

SMART Domains

Protein: ENSMUSP00000134566
Gene: ENSMUSG00000053046

Domain	Start	End	E-Value	Type
low complexity region	12	31	N/A	INTRINSIC
Blast:S_TKc	32	79	6e-21	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174911

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173330

Predicted Effect

probably benign
Transcript: ENSMUST00000173941

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.3%

Validation Efficiency

97% (72/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	G	A	8: 41,208,168 (GRCm39)	R478Q	probably damaging	Het
Adgrf5	A	T	17: 43,761,874 (GRCm39)	S1190C	probably damaging	Het
Akr1a1	T	C	4: 116,497,204 (GRCm39)		probably null	Het
Bco2	A	T	9: 50,447,615 (GRCm39)	D369E	probably benign	Het
Blm	A	T	7: 80,163,118 (GRCm39)	S78T	probably benign	Het
Cct8	A	G	16: 87,283,508 (GRCm39)	V269A	possibly damaging	Het
Cdh12	A	T	15: 21,237,850 (GRCm39)	Q28H	probably benign	Het
Cep290	A	G	10: 100,354,624 (GRCm39)	T896A	probably benign	Het
Chrm2	T	A	6: 36,501,401 (GRCm39)	N419K	possibly damaging	Het
Clasp2	A	T	9: 113,676,773 (GRCm39)	H168L	possibly damaging	Het
Cog3	A	T	14: 75,954,610 (GRCm39)	M643K	probably benign	Het
Col6a5	A	G	9: 105,817,484 (GRCm39)	S276P	unknown	Het
Colgalt2	T	C	1: 152,347,495 (GRCm39)	V143A	probably damaging	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Cwc27	C	A	13: 104,797,865 (GRCm39)	E365*	probably null	Het
Ddx56	A	T	11: 6,217,718 (GRCm39)	M1K	probably null	Het
Dnah3	C	T	7: 119,634,563 (GRCm39)		probably null	Het
Dnah6	T	C	6: 73,136,176 (GRCm39)	T988A	possibly damaging	Het
Esp15	T	A	17: 39,953,557 (GRCm39)	F15I	possibly damaging	Het
Fam237b	T	A	5: 5,625,512 (GRCm39)	D69E	probably benign	Het
Fbh1	C	T	2: 11,768,899 (GRCm39)		probably benign	Het
Gucy1b2	A	T	14: 62,646,127 (GRCm39)	I572N	possibly damaging	Het
Gucy1b2	T	C	14: 62,651,818 (GRCm39)	I393V	possibly damaging	Het
H1f6	G	T	13: 23,880,307 (GRCm39)	K153N	possibly damaging	Het
Herc1	C	A	9: 66,279,427 (GRCm39)	R112S	probably damaging	Het
Itga7	G	A	10: 128,778,746 (GRCm39)	R291H	probably damaging	Het
Jag1	A	G	2: 136,925,371 (GRCm39)	L1077S	possibly damaging	Het
Klb	G	C	5: 65,506,089 (GRCm39)	R112P	possibly damaging	Het
Klrc2	T	C	6: 129,635,726 (GRCm39)	Y134C	probably damaging	Het
Map2k2	C	A	10: 80,955,482 (GRCm39)	D67E	probably benign	Het
Mest	G	A	6: 30,740,683 (GRCm39)	W14*	probably null	Het
Mier2	A	G	10: 79,380,455 (GRCm39)		probably benign	Het
Mog	A	G	17: 37,328,424 (GRCm39)	V169A	probably benign	Het
Mov10l1	T	C	15: 88,905,482 (GRCm39)	V879A	probably damaging	Het
Mrgpra9	A	G	7: 46,885,203 (GRCm39)	S155P	probably damaging	Het
Mtmr10	A	G	7: 63,976,457 (GRCm39)	D418G	probably damaging	Het
Mtpn	T	C	6: 35,498,911 (GRCm39)	D58G	probably null	Het
Myh8	A	G	11: 67,188,585 (GRCm39)	R1056G	probably damaging	Het
Nek1	T	A	8: 61,542,465 (GRCm39)		probably null	Het
Or4k38	T	C	2: 111,165,763 (GRCm39)	Y220C	probably benign	Het
Or5al7	A	C	2: 85,992,648 (GRCm39)	L215R	possibly damaging	Het
Or8b36	T	A	9: 37,937,856 (GRCm39)	F251L	possibly damaging	Het
Pcnx1	G	A	12: 81,960,186 (GRCm39)	D181N	probably damaging	Het
Pdzrn4	A	G	15: 92,655,592 (GRCm39)	D495G	probably benign	Het
Plppr3	A	G	10: 79,700,920 (GRCm39)	S641P	probably damaging	Het
Pramel11	T	A	4: 143,623,533 (GRCm39)	T214S	probably benign	Het
Prelp	A	T	1: 133,842,414 (GRCm39)	Y244N	probably damaging	Het
Prg2	C	A	2: 84,812,393 (GRCm39)	N34K	probably benign	Het
Ptp4a1	A	G	1: 30,984,080 (GRCm39)	V46A	possibly damaging	Het
Rpl6	A	G	5: 121,346,565 (GRCm39)	D222G	possibly damaging	Het
Rtp1	A	T	16: 23,250,058 (GRCm39)	D141V	probably damaging	Het
Sacs	T	A	14: 61,449,412 (GRCm39)	Y3819*	probably null	Het
Serinc5	A	G	13: 92,825,128 (GRCm39)	T186A	probably benign	Het
Slc15a2	A	G	16: 36,577,501 (GRCm39)	S422P	probably benign	Het
Slc2a8	A	T	2: 32,865,379 (GRCm39)	V366D	probably benign	Het
Smarca1	T	C	X: 46,938,864 (GRCm39)	R715G	possibly damaging	Het
Spdef	C	T	17: 27,933,997 (GRCm39)	A275T	probably damaging	Het
Tcf21	T	C	10: 22,695,621 (GRCm39)	K61R	probably benign	Het
Tep1	A	G	14: 51,061,753 (GRCm39)		probably benign	Het
Thada	G	A	17: 84,736,490 (GRCm39)		probably benign	Het
Thap11	T	A	8: 106,582,810 (GRCm39)	I273N	probably damaging	Het
Tmem129	T	A	5: 33,812,112 (GRCm39)	E262V	possibly damaging	Het
Tnxb	A	G	17: 34,904,117 (GRCm39)	Y1086C	probably damaging	Het
Togaram2	A	G	17: 72,014,309 (GRCm39)	Y619C	probably damaging	Het
Top1	C	T	2: 160,562,945 (GRCm39)	A717V	probably damaging	Het
Trpm7	G	A	2: 126,646,969 (GRCm39)	P1507S	probably benign	Het
Ubr2	A	T	17: 47,245,187 (GRCm39)		probably null	Het
Usp30	T	C	5: 114,249,925 (GRCm39)		probably benign	Het
Vmn1r3	T	A	4: 3,185,125 (GRCm39)	I61F	probably damaging	Het
Zbtb22	C	T	17: 34,136,326 (GRCm39)	T157I	possibly damaging	Het
Zfp677	A	T	17: 21,618,572 (GRCm39)	H543L	probably damaging	Het
Zranb3	G	T	1: 127,884,383 (GRCm39)	P1001Q	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
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
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'- TGCACTGCTCAGATGGAACATGCC -3'
(R):5'- AGCTGTCCTTCTTCCTCAGCACAAG -3'

Sequencing Primer
(F):5'- ATAAGCACTGGCCTCTGAATCTG -3'
(R):5'- GTCATTTCTCATGTGGACAGAACC -3'

Posted On

2013-11-08