Mutagenetix > Incidental Mutation

Incidental Mutation 'R6402:Cbarp'

516198

Institutional Source

Beutler Lab

Gene Symbol

Cbarp

Ensembl Gene

ENSMUSG00000035640

Gene Name

calcium channel, voltage-dependent, beta subunit associated regulatory protein

Synonyms

R29144/1, Dos

MMRRC Submission

044419-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6402 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79966268-79976189 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79970956 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 247 (I247T)

Ref Sequence

ENSEMBL: ENSMUSP00000131487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003152] [ENSMUST00000105369] [ENSMUST00000105370] [ENSMUST00000105371] [ENSMUST00000123967] [ENSMUST00000169546] [ENSMUST00000170219] [ENSMUST00000132523] [ENSMUST00000147778] [ENSMUST00000152592] [ENSMUST00000144883] [ENSMUST00000142853]

AlphaFold

Q66L44

Predicted Effect

probably benign
Transcript: ENSMUST00000003152

SMART Domains

Protein: ENSMUSP00000003152
Gene: ENSMUSG00000003068

Domain	Start	End	E-Value	Type
S_TKc	49	309	1.28e-80	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105369
AA Change: I247T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101008
Gene: ENSMUSG00000035640
AA Change: I247T

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
transmembrane domain	41	63	N/A	INTRINSIC
low complexity region	185	197	N/A	INTRINSIC
low complexity region	269	277	N/A	INTRINSIC
low complexity region	380	388	N/A	INTRINSIC
low complexity region	402	420	N/A	INTRINSIC
low complexity region	444	484	N/A	INTRINSIC
low complexity region	515	534	N/A	INTRINSIC
low complexity region	559	573	N/A	INTRINSIC
low complexity region	627	651	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105370

SMART Domains

Protein: ENSMUSP00000101009
Gene: ENSMUSG00000003068

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	180	2.8e-22	PFAM
Pfam:Pkinase	1	183	2.8e-40	PFAM
Pfam:Kinase-like	8	171	5.7e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105371

Predicted Effect

probably benign
Transcript: ENSMUST00000123967

SMART Domains

Protein: ENSMUSP00000125962
Gene: ENSMUSG00000035640

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
low complexity region	68	87	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127515

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128465

Predicted Effect

probably benign
Transcript: ENSMUST00000169546
AA Change: I254T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000132978
Gene: ENSMUSG00000035640
AA Change: I254T

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
transmembrane domain	35	57	N/A	INTRINSIC
low complexity region	192	204	N/A	INTRINSIC
low complexity region	276	284	N/A	INTRINSIC
low complexity region	387	395	N/A	INTRINSIC
low complexity region	409	427	N/A	INTRINSIC
low complexity region	451	491	N/A	INTRINSIC
low complexity region	522	541	N/A	INTRINSIC
low complexity region	566	580	N/A	INTRINSIC
low complexity region	634	658	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170219
AA Change: I247T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131487
Gene: ENSMUSG00000035640
AA Change: I247T

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
transmembrane domain	41	63	N/A	INTRINSIC
low complexity region	185	197	N/A	INTRINSIC
low complexity region	269	277	N/A	INTRINSIC
low complexity region	380	388	N/A	INTRINSIC
low complexity region	402	420	N/A	INTRINSIC
low complexity region	444	484	N/A	INTRINSIC
low complexity region	515	534	N/A	INTRINSIC
low complexity region	559	573	N/A	INTRINSIC
low complexity region	627	651	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132317

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146180

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136260

Predicted Effect

probably benign
Transcript: ENSMUST00000132523

SMART Domains

Protein: ENSMUSP00000128980
Gene: ENSMUSG00000035640

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
transmembrane domain	43	65	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138776

Predicted Effect

probably benign
Transcript: ENSMUST00000147778

SMART Domains

Protein: ENSMUSP00000130389
Gene: ENSMUSG00000035640

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
transmembrane domain	43	65	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152592

SMART Domains

Protein: ENSMUSP00000118853
Gene: ENSMUSG00000003068

Domain	Start	End	E-Value	Type
Blast:S_TKc	1	53	6e-31	BLAST
PDB:2WTK\|F	1	74	1e-40	PDB
SCOP:d1koba_	1	89	1e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150347

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128488

Predicted Effect

probably benign
Transcript: ENSMUST00000144883

SMART Domains

Protein: ENSMUSP00000114195
Gene: ENSMUSG00000003068

Domain	Start	End	E-Value	Type
S_TKc	49	309	1.28e-80	SMART
low complexity region	396	411	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142853

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149242

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr4	T	A	9: 103,976,144 (GRCm39)	I268F	possibly damaging	Het
Adck2	T	C	6: 39,563,803 (GRCm39)	V514A	possibly damaging	Het
Catsper1	G	T	19: 5,389,524 (GRCm39)	G480W	probably damaging	Het
Cdc14a	A	G	3: 116,142,108 (GRCm39)	Y172H	probably damaging	Het
Creld2	C	T	15: 88,707,344 (GRCm39)	R221C	probably damaging	Het
Dmac1	C	T	4: 75,196,217 (GRCm39)		probably null	Het
Epsti1	A	G	14: 78,177,318 (GRCm39)	E166G	probably damaging	Het
Hus1	A	G	11: 8,960,407 (GRCm39)	F64S	probably damaging	Het
Kansl1l	T	A	1: 66,801,352 (GRCm39)	H538L	probably damaging	Het
Map4k2	T	C	19: 6,394,111 (GRCm39)		probably null	Het
Mettl8	A	T	2: 70,796,805 (GRCm39)	Y98*	probably null	Het
Naip6	G	T	13: 100,437,226 (GRCm39)	H432Q	probably benign	Het
Sirt4	C	T	5: 115,618,370 (GRCm39)	V235M	probably damaging	Het
Skic3	A	G	13: 76,283,389 (GRCm39)	H827R	probably benign	Het
Slc23a3	T	C	1: 75,105,200 (GRCm39)	N456S	probably damaging	Het
Slc9a1	C	A	4: 133,097,962 (GRCm39)	H36Q	probably benign	Het
Spink14	A	G	18: 44,164,041 (GRCm39)	T70A	probably damaging	Het
Stambpl1	C	A	19: 34,211,539 (GRCm39)	P200Q	probably benign	Het
Trio	T	A	15: 27,902,997 (GRCm39)	I155L	probably benign	Het
Vmn1r51	T	C	6: 90,106,444 (GRCm39)	V120A	probably benign	Het
Wac	A	G	18: 7,901,585 (GRCm39)	S77G	possibly damaging	Het
Zeb2	G	A	2: 44,886,987 (GRCm39)	T675I	probably damaging	Het

Other mutations in Cbarp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02516:Cbarp	APN	10	79,971,379 (GRCm39)	missense	probably damaging	1.00
R1181:Cbarp	UTSW	10	79,971,328 (GRCm39)	missense	probably damaging	1.00
R1189:Cbarp	UTSW	10	79,967,630 (GRCm39)	missense	possibly damaging	0.77
R2937:Cbarp	UTSW	10	79,967,603 (GRCm39)	missense	probably damaging	0.99
R2938:Cbarp	UTSW	10	79,967,603 (GRCm39)	missense	probably damaging	0.99
R3931:Cbarp	UTSW	10	79,971,348 (GRCm39)	missense	probably damaging	1.00
R4199:Cbarp	UTSW	10	79,971,326 (GRCm39)	missense	probably damaging	1.00
R4573:Cbarp	UTSW	10	79,967,245 (GRCm39)	missense	probably damaging	0.99
R5274:Cbarp	UTSW	10	79,967,649 (GRCm39)	missense	possibly damaging	0.57
R5761:Cbarp	UTSW	10	79,968,067 (GRCm39)	unclassified	probably benign
R6112:Cbarp	UTSW	10	79,971,205 (GRCm39)	splice site	probably null
R7087:Cbarp	UTSW	10	79,972,242 (GRCm39)	missense	probably damaging	1.00
R7270:Cbarp	UTSW	10	79,973,151 (GRCm39)	missense	possibly damaging	0.63
R7287:Cbarp	UTSW	10	79,973,154 (GRCm39)	missense	unknown
R7427:Cbarp	UTSW	10	79,967,138 (GRCm39)	missense	probably damaging	0.99
R7428:Cbarp	UTSW	10	79,967,138 (GRCm39)	missense	probably damaging	0.99
R8803:Cbarp	UTSW	10	79,972,976 (GRCm39)	missense	possibly damaging	0.79
R9419:Cbarp	UTSW	10	79,967,861 (GRCm39)	missense	probably damaging	0.99
X0025:Cbarp	UTSW	10	79,967,411 (GRCm39)	missense	probably damaging	0.96
Z1177:Cbarp	UTSW	10	79,968,894 (GRCm39)	missense	probably damaging	1.00
Z1177:Cbarp	UTSW	10	79,967,706 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGATCCTGCCTACAAGTTCTGTTC -3'
(R):5'- TTCAGCAGGTCTTGGAAGGC -3'

Sequencing Primer
(F):5'- ACAAGTTCTGTTCCTTGGGC -3'
(R):5'- GGATCGCCCCTCACCTAC -3'

Posted On

2018-05-04