Mutagenetix > Incidental Mutation

Incidental Mutation 'R5761:Cbarp'

445312

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

043363-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5761 (G1)

Quality Score

112

Status

Validated

Chromosome

Chromosomal Location

79966268-79976189 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

CGCCTCTGCTGCCTCT to CGCCTCT at 79968067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150488 (fasta)

Gene Model

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

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

SMART Domains

Protein: ENSMUSP00000101008
Gene: ENSMUSG00000035640

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

SMART Domains

Protein: ENSMUSP00000132978
Gene: ENSMUSG00000035640

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

SMART Domains

Protein: ENSMUSP00000131487
Gene: ENSMUSG00000035640

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: ENSMUST00000136260

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144119

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132317

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144108

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128488

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146180

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149242

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: 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

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

Coding Region Coverage

1x: 99.5%
3x: 98.8%
10x: 97.3%
20x: 95.2%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,100,927 (GRCm39)	V953D	probably damaging	Het
Abcb8	T	C	5: 24,610,879 (GRCm39)		probably benign	Het
Acad12	A	T	5: 121,742,243 (GRCm39)		probably benign	Het
Adam2	A	T	14: 66,283,595 (GRCm39)	C436S	probably damaging	Het
Aebp2	T	C	6: 140,569,943 (GRCm39)		probably benign	Het
Akap8	A	T	17: 32,536,159 (GRCm39)	C85S	possibly damaging	Het
Aldh1a3	C	A	7: 66,068,927 (GRCm39)	R19L	probably damaging	Het
Baz2a	A	G	10: 127,955,559 (GRCm39)	T848A	possibly damaging	Het
Bud13	C	T	9: 46,199,350 (GRCm39)	A237V	probably benign	Het
Ccdc187	G	A	2: 26,166,104 (GRCm39)	P775L	possibly damaging	Het
Ccz1	C	T	5: 143,929,328 (GRCm39)	G367R	probably damaging	Het
Cep104	T	C	4: 154,065,681 (GRCm39)	V56A	possibly damaging	Het
Chd6	C	A	2: 160,798,998 (GRCm39)	R2362S	probably damaging	Het
Chd6	C	T	2: 160,798,999 (GRCm39)	R2362K	probably damaging	Het
Cmc1	T	C	9: 117,944,443 (GRCm39)	E25G	probably benign	Het
Cntnap5b	T	C	1: 100,374,619 (GRCm39)	S1123P	probably damaging	Het
Col4a3	T	A	1: 82,693,778 (GRCm39)	L66*	probably null	Het
Crmp1	A	G	5: 37,440,212 (GRCm39)	T329A	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp3a16	A	G	5: 145,378,843 (GRCm39)	S393P	possibly damaging	Het
Cyp4f18	T	A	8: 72,749,975 (GRCm39)	I225F	probably damaging	Het
Ddhd2	A	G	8: 26,231,726 (GRCm39)	V432A	probably benign	Het
Ecpas	T	C	4: 58,853,131 (GRCm39)	I401M	probably damaging	Het
Foxq1	G	A	13: 31,743,314 (GRCm39)	A139T	probably damaging	Het
Gm10428	G	T	11: 62,644,169 (GRCm39)		probably benign	Het
Gpr89	A	G	3: 96,800,196 (GRCm39)	L134P	probably damaging	Het
Hjv	T	C	3: 96,435,938 (GRCm39)	S399P	probably benign	Het
Hrc	A	T	7: 44,986,025 (GRCm39)		probably null	Het
Igf1r	T	A	7: 67,857,001 (GRCm39)	Y988N	probably damaging	Het
Igf2r	A	C	17: 12,917,239 (GRCm39)		probably null	Het
Itga2b	A	G	11: 102,357,100 (GRCm39)	F260S	probably benign	Het
Kif2a	T	A	13: 107,098,672 (GRCm39)	N698I	probably benign	Het
Lap3	A	C	5: 45,662,147 (GRCm39)	I316L	probably benign	Het
Map2k6	T	G	11: 110,290,197 (GRCm39)		probably benign	Het
Mtrex	T	A	13: 113,054,196 (GRCm39)	I146F	probably damaging	Het
Myh1	A	G	11: 67,110,078 (GRCm39)	E1422G	probably damaging	Het
Ncoa6	A	G	2: 155,250,061 (GRCm39)	V1081A	probably benign	Het
Nom1	A	G	5: 29,642,639 (GRCm39)	E380G	probably damaging	Het
Nwd2	A	T	5: 63,882,573 (GRCm39)	Y75F	probably damaging	Het
Or3a1b	T	A	11: 74,012,335 (GRCm39)	D73E	probably damaging	Het
Or51a24	G	A	7: 103,733,376 (GRCm39)	R304W	probably benign	Het
Pkd1l1	A	G	11: 8,866,301 (GRCm39)	V518A	probably damaging	Het
Ptgs2	A	G	1: 149,981,279 (GRCm39)	M521V	probably benign	Het
Qsox1	T	A	1: 155,655,274 (GRCm39)	M630L	probably benign	Het
Spty2d1	A	G	7: 46,648,032 (GRCm39)	L299P	probably damaging	Het
St6gal1	T	G	16: 23,139,805 (GRCm39)		probably benign	Het
Sult2a6	T	C	7: 13,984,283 (GRCm39)	Y149C	probably damaging	Het
Tlr3	G	A	8: 45,855,808 (GRCm39)	T124M	probably benign	Het
Tmem171	A	G	13: 98,829,019 (GRCm39)	Y44H	probably damaging	Het
Usp35	C	T	7: 96,961,558 (GRCm39)	V623I	probably benign	Het
Vangl2	T	A	1: 171,833,694 (GRCm39)	H463L	probably damaging	Het
Vmn1r175	A	C	7: 23,507,905 (GRCm39)	L241V	probably benign	Het
Vmn1r19	A	T	6: 57,382,338 (GRCm39)	K297I	unknown	Het
Vmn2r23	C	A	6: 123,689,718 (GRCm39)	T198K	probably benign	Het
Vmn2r-ps69	T	A	7: 84,953,223 (GRCm39)		noncoding transcript	Het
Xirp2	A	G	2: 67,341,311 (GRCm39)	Y1184C	probably benign	Het
Ythdc1	A	G	5: 86,983,810 (GRCm39)		probably benign	Het
Zbtb39	C	T	10: 127,578,515 (GRCm39)	A363V	probably damaging	Het
Zmiz1	T	A	14: 25,651,728 (GRCm39)	I527K	possibly damaging	Het
Zmiz1	C	A	14: 25,651,730 (GRCm39)	P534T	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
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'- TTAGGCCTCAAAGCAGGTGG -3'
(R):5'- GGAGTCTGTTTCAGGTCCATTCTC -3'

Sequencing Primer
(F):5'- CTCAAAGCAGGTGGAGACTCC -3'
(R):5'- AGGTCCATTCTCTTGGTACCC -3'

Posted On

2016-11-21