Mutagenetix > Incidental Mutation

Incidental Mutation 'R2938:Cbarp'

256115

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

040515-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2938 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79966268-79976189 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79967603 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 539 (D539G)

Ref Sequence

ENSEMBL: ENSMUSP00000131487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003152] [ENSMUST00000105369] [ENSMUST00000105370] [ENSMUST00000105371] [ENSMUST00000123967] [ENSMUST00000169546] [ENSMUST00000170219] [ENSMUST00000147778] [ENSMUST00000152592] [ENSMUST00000213772] [ENSMUST00000144883] [ENSMUST00000132523]

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 damaging
Transcript: ENSMUST00000105369
AA Change: D539G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101008
Gene: ENSMUSG00000035640
AA Change: D539G

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: ENSMUST00000128465

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128488

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169546
AA Change: D546G

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000132978
Gene: ENSMUSG00000035640
AA Change: D546G

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 damaging
Transcript: ENSMUST00000170219
AA Change: D539G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131487
Gene: ENSMUSG00000035640
AA Change: D539G

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: ENSMUST00000146180

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144119

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149242

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132317

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136260

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144108

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

probably benign
Transcript: ENSMUST00000213772

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: 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

Meta Mutation Damage Score

0.1335

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef2	T	A	2: 166,736,653 (GRCm39)	I1775K	probably damaging	Het
Arhgap45	T	A	10: 79,864,836 (GRCm39)	M933K	probably damaging	Het
Astn2	A	T	4: 65,910,550 (GRCm39)	H427Q	possibly damaging	Het
Bace2	T	C	16: 97,213,388 (GRCm39)		probably null	Het
Cacna1b	A	G	2: 24,496,540 (GRCm39)	V125A	probably benign	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Ccdc73	T	A	2: 104,805,980 (GRCm39)	L296*	probably null	Het
Cd40	G	C	2: 164,911,622 (GRCm39)	V191L	probably benign	Het
Cdc6	A	G	11: 98,801,586 (GRCm39)	I217V	probably benign	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cdr1	T	G	X: 60,228,968 (GRCm39)	D66A	unknown	Het
Cela3b	A	G	4: 137,150,574 (GRCm39)	I208T	probably benign	Het
Col1a2	A	T	6: 4,520,788 (GRCm39)	Q375L	possibly damaging	Het
Csn1s1	A	T	5: 87,824,995 (GRCm39)	Q221L	possibly damaging	Het
Cstl1	T	A	2: 148,592,977 (GRCm39)	I44N	possibly damaging	Het
Depdc5	G	A	5: 33,058,965 (GRCm39)		probably null	Het
Dthd1	A	G	5: 63,000,300 (GRCm39)	I541V	probably benign	Het
Eml6	G	A	11: 29,783,049 (GRCm39)		probably benign	Het
Fkbp15	T	A	4: 62,222,900 (GRCm39)	T1000S	probably benign	Het
Gimap8	A	T	6: 48,635,730 (GRCm39)	R498S	possibly damaging	Het
Glis1	A	G	4: 107,489,488 (GRCm39)	N692D	possibly damaging	Het
Gpr83	A	G	9: 14,776,167 (GRCm39)	T163A	probably benign	Het
Hmgcr	G	A	13: 96,799,576 (GRCm39)	L173F	probably damaging	Het
Htr2b	T	A	1: 86,030,177 (GRCm39)	I173F	possibly damaging	Het
Ifna11	T	C	4: 88,738,530 (GRCm39)	L112P	probably damaging	Het
Lmod1	A	G	1: 135,291,654 (GRCm39)	K170E	probably benign	Het
Lrrtm1	A	T	6: 77,220,635 (GRCm39)	M31L	probably benign	Het
Macf1	T	C	4: 123,326,695 (GRCm39)	N2815S	probably damaging	Het
Man1c1	A	G	4: 134,430,263 (GRCm39)	I173T	possibly damaging	Het
Man2b2	A	G	5: 36,978,330 (GRCm39)	I318T	probably benign	Het
Mib1	T	A	18: 10,752,033 (GRCm39)		probably benign	Het
Myo10	T	A	15: 25,795,803 (GRCm39)	S1315T	probably damaging	Het
Nsun5	C	T	5: 135,404,317 (GRCm39)	Q375*	probably null	Het
Opcml	A	G	9: 27,702,682 (GRCm39)	M1V	probably null	Het
Or4d5	A	T	9: 40,012,039 (GRCm39)	I249K	probably benign	Het
Or5m3	T	C	2: 85,838,357 (GRCm39)	M79T	probably damaging	Het
Or6c66b	T	A	10: 129,376,484 (GRCm39)	F26Y	probably damaging	Het
Parm1	T	C	5: 91,742,328 (GRCm39)	I232T	possibly damaging	Het
Pdss1	T	A	2: 22,796,799 (GRCm39)		probably null	Het
Pfkfb2	G	A	1: 130,633,147 (GRCm39)	T202I	possibly damaging	Het
Postn	T	A	3: 54,277,731 (GRCm39)	F242Y	probably damaging	Het
Prss12	A	G	3: 123,280,625 (GRCm39)	T437A	probably benign	Het
Rap1gap2	C	A	11: 74,298,148 (GRCm39)	A491S	possibly damaging	Het
Rbm10	T	C	X: 20,513,934 (GRCm39)	L429P	possibly damaging	Het
Saraf	A	G	8: 34,635,735 (GRCm39)	N346D	probably benign	Het
Sec31b	T	C	19: 44,524,618 (GRCm39)	D93G	probably damaging	Het
Sgcg	A	T	14: 61,467,074 (GRCm39)	F175L	probably damaging	Het
Sh3rf2	A	G	18: 42,282,789 (GRCm39)	D449G	probably benign	Het
Slc9a3	T	C	13: 74,269,788 (GRCm39)	I52T	possibly damaging	Het
Tcf7	A	T	11: 52,173,610 (GRCm39)		probably null	Het
Tlr1	A	G	5: 65,083,251 (GRCm39)	V442A	probably damaging	Het
Tmub1	A	G	5: 24,650,922 (GRCm39)	*261Q	probably null	Het
Uck1	GCCAACACC	GCC	2: 32,146,088 (GRCm39)		probably benign	Het
Utp4	A	G	8: 107,649,561 (GRCm39)	D670G	probably damaging	Het
Vamp5	A	G	6: 72,346,323 (GRCm39)	V91A	probably benign	Het
Vmn1r35	A	T	6: 66,655,950 (GRCm39)	M73K	possibly damaging	Het
Vmn2r12	C	T	5: 109,239,397 (GRCm39)	E389K	probably damaging	Het
Wdsub1	T	C	2: 59,703,630 (GRCm39)	T112A	possibly damaging	Het
Xpo4	G	T	14: 57,841,897 (GRCm39)	Q473K	probably benign	Het
Xpo7	A	G	14: 70,909,130 (GRCm39)	I797T	probably damaging	Het
Zfp808	G	A	13: 62,319,032 (GRCm39)	V67M	probably benign	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
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
R6402:Cbarp	UTSW	10	79,970,956 (GRCm39)	missense	probably benign
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'- AGGACAATCAACGCTGTCC -3'
(R):5'- CTGCTTTGAGGCCTAAGGAC -3'

Sequencing Primer
(F):5'- CGTAATGGCGCACGTGTAG -3'
(R):5'- GCCTAAGGACGGCGAAG -3'

Posted On

2014-12-29