Mutagenetix > Incidental Mutation

Incidental Mutation 'R1189:Cbarp'

102427

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

039261-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1189 (G1)

Quality Score

102

Status

Not validated

Chromosome

Chromosomal Location

79966268-79976189 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 79967630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 537 (R537L)

Ref Sequence

ENSEMBL: ENSMUSP00000132978 (fasta)

Gene Model

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

possibly damaging
Transcript: ENSMUST00000105369
AA Change: R530L

PolyPhen 2 Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101008
Gene: ENSMUSG00000035640
AA Change: R530L

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: R537L

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000132978
Gene: ENSMUSG00000035640
AA Change: R537L

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

possibly damaging
Transcript: ENSMUST00000170219
AA Change: R530L

PolyPhen 2 Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000131487
Gene: ENSMUSG00000035640
AA Change: R530L

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: ENSMUST00000149242

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144108

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146180

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144119

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132317

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136260

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: ENSMUST00000213772

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: 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: 98.6%
3x: 97.2%
10x: 92.5%
20x: 81.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930022D16Rik	A	G	11: 109,308,934 (GRCm39)	H100R	unknown	Het
Abcc2	T	A	19: 43,807,852 (GRCm39)	V831D	probably damaging	Het
Akap11	A	T	14: 78,750,787 (GRCm39)	S533R	probably benign	Het
Aldh1a2	G	T	9: 71,171,105 (GRCm39)	A198S	possibly damaging	Het
Crybg1	T	A	10: 43,874,790 (GRCm39)	S773C	probably damaging	Het
Cyp3a13	G	T	5: 137,909,892 (GRCm39)		probably null	Het
Gatad1	T	A	5: 3,693,701 (GRCm39)	D156V	probably damaging	Het
Ift172	T	A	5: 31,443,174 (GRCm39)		probably null	Het
Lrrtm2	C	T	18: 35,346,545 (GRCm39)	W252*	probably null	Het
Mitf	T	C	6: 97,983,086 (GRCm39)	C270R	possibly damaging	Het
Muc6	T	A	7: 141,232,122 (GRCm39)	S1002C	probably damaging	Het
Or4k2	A	G	14: 50,424,539 (GRCm39)	I45T	probably damaging	Het
Or5b113	A	T	19: 13,342,543 (GRCm39)	M184L	probably benign	Het
Pcdhb8	C	T	18: 37,489,620 (GRCm39)	Q92*	probably null	Het
Plekhm1	A	G	11: 103,277,888 (GRCm39)	S403P	probably benign	Het
Ppara	A	G	15: 85,682,365 (GRCm39)	I354V	probably benign	Het
Psmd2	T	C	16: 20,480,644 (GRCm39)	M761T	probably benign	Het
Xirp2	T	A	2: 67,343,805 (GRCm39)	N2015K	probably damaging	Het
Zbtb39	C	G	10: 127,578,175 (GRCm39)	Q250E	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
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
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'- CCTTCAGGAGGACAATCAACGCTG -3'
(R):5'- AGTCCCTAAAGCACAAACATGTGGC -3'

Sequencing Primer
(F):5'- TGTCCCCACGGCGTAATG -3'
(R):5'- AATGACCGCGACTCAGTG -3'

Posted On

2014-01-15