Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02516:Cbarp'

296789

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cbarp

Ensembl Gene

ENSMUSG00000035640

Gene Name

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

Synonyms

R29144/1, Dos

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02516

Quality Score

Status

Chromosome

Chromosomal Location

79966268-79976189 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79971379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 149 (Y149H)

Ref Sequence

ENSEMBL: ENSMUSP00000131487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003152] [ENSMUST00000105369] [ENSMUST00000105370] [ENSMUST00000123967] [ENSMUST00000170219] [ENSMUST00000169546] [ENSMUST00000147778] [ENSMUST00000132523] [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 damaging
Transcript: ENSMUST00000105369
AA Change: Y149H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101008
Gene: ENSMUSG00000035640
AA Change: Y149H

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: 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

noncoding transcript
Transcript: ENSMUST00000128488

Predicted Effect

probably damaging
Transcript: ENSMUST00000170219
AA Change: Y149H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131487
Gene: ENSMUSG00000035640
AA Change: Y149H

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 damaging
Transcript: ENSMUST00000169546
AA Change: Y156H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132978
Gene: ENSMUSG00000035640
AA Change: Y156H

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: 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

noncoding transcript
Transcript: ENSMUST00000149242

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136260

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132317

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138776

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150347

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146180

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: ENSMUST00000142853

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	C	T	8: 25,388,612 (GRCm39)	S364N	probably damaging	Het
Ano8	C	T	8: 71,937,721 (GRCm39)	G47D	probably damaging	Het
App	T	C	16: 84,752,305 (GRCm39)	T743A	probably damaging	Het
Armc3	A	G	2: 19,305,317 (GRCm39)	K692E	possibly damaging	Het
Arpp21	T	C	9: 112,014,729 (GRCm39)	N25S	probably damaging	Het
Avpr1b	G	A	1: 131,528,367 (GRCm39)	V297I	probably damaging	Het
Bpi	A	G	2: 158,109,651 (GRCm39)	I200V	possibly damaging	Het
Cacna2d4	C	T	6: 119,248,831 (GRCm39)		probably benign	Het
Ccdc85c	T	C	12: 108,241,160 (GRCm39)	N78S	unknown	Het
Cdcp1	G	T	9: 123,002,702 (GRCm39)	L790M	possibly damaging	Het
Cdkn2d	T	A	9: 21,200,439 (GRCm39)	I111F	probably benign	Het
Ctsr	A	G	13: 61,310,992 (GRCm39)	V18A	probably benign	Het
Dapk1	A	G	13: 60,844,161 (GRCm39)	D60G	probably damaging	Het
Daw1	A	C	1: 83,186,949 (GRCm39)	N253T	probably benign	Het
Dcaf7	T	A	11: 105,942,698 (GRCm39)	I215N	probably damaging	Het
Ddc	A	C	11: 11,779,125 (GRCm39)	L333R	probably damaging	Het
Dennd1a	A	G	2: 37,742,406 (GRCm39)		probably null	Het
Dnah10	C	A	5: 124,864,395 (GRCm39)	T2200K	probably damaging	Het
Dock6	T	C	9: 21,713,881 (GRCm39)	Y1883C	probably damaging	Het
Ecpas	T	C	4: 58,877,102 (GRCm39)	E111G	probably damaging	Het
Eif2ak4	T	A	2: 118,266,735 (GRCm39)	I752N	probably damaging	Het
Fcho2	A	G	13: 98,866,720 (GRCm39)	I740T	probably benign	Het
Flnc	A	G	6: 29,450,840 (GRCm39)	D1496G	probably damaging	Het
Fn1	A	G	1: 71,676,482 (GRCm39)	V583A	possibly damaging	Het
Greb1l	A	C	18: 10,537,064 (GRCm39)	T1010P	probably benign	Het
Hs3st6	T	C	17: 24,977,105 (GRCm39)	L195P	probably damaging	Het
Hyi	A	G	4: 118,219,680 (GRCm39)	E239G	probably damaging	Het
Ighv2-3	G	T	12: 113,574,818 (GRCm39)	Y112*	probably null	Het
Ints3	A	G	3: 90,310,415 (GRCm39)	F495S	probably damaging	Het
Itih2	T	A	2: 10,102,728 (GRCm39)	H802L	probably benign	Het
Jag2	C	T	12: 112,874,186 (GRCm39)	V990M	probably damaging	Het
Kat6b	T	C	14: 21,659,936 (GRCm39)		probably benign	Het
Krtap4-8	C	T	11: 99,671,168 (GRCm39)		probably benign	Het
Lhx4	A	G	1: 155,578,003 (GRCm39)	S380P	probably damaging	Het
Morn3	C	A	5: 123,175,363 (GRCm39)	E33*	probably null	Het
Mug2	C	T	6: 122,047,802 (GRCm39)	A771V	probably damaging	Het
N4bp3	A	T	11: 51,535,161 (GRCm39)	S343T	probably benign	Het
Nlrp1a	T	C	11: 71,005,286 (GRCm39)	N643S	probably damaging	Het
Or2c1	A	C	16: 3,657,200 (GRCm39)	D121A	probably damaging	Het
Or2h1b	T	A	17: 37,462,163 (GRCm39)	R79S	possibly damaging	Het
Or6c8	T	A	10: 128,915,662 (GRCm39)	M57L	possibly damaging	Het
Phc3	A	G	3: 31,002,942 (GRCm39)	F192S	probably damaging	Het
Pigq	C	T	17: 26,156,221 (GRCm39)	R69H	probably benign	Het
Plk3	A	G	4: 116,989,186 (GRCm39)	C222R	probably damaging	Het
Pomt2	T	C	12: 87,166,420 (GRCm39)	T490A	probably benign	Het
Prss29	T	C	17: 25,539,875 (GRCm39)	I91T	probably damaging	Het
Ralgapb	A	T	2: 158,307,735 (GRCm39)		probably benign	Het
Sccpdh	G	A	1: 179,509,256 (GRCm39)	G75D	probably damaging	Het
Serpine2	T	C	1: 79,772,714 (GRCm39)		probably benign	Het
Sfr1	T	G	19: 47,721,429 (GRCm39)		probably null	Het
Slc22a23	C	A	13: 34,387,938 (GRCm39)	C386F	probably benign	Het
Slc22a27	T	C	19: 7,842,176 (GRCm39)	K433R	probably damaging	Het
Slc39a12	T	C	2: 14,405,146 (GRCm39)	L246P	probably damaging	Het
Slc4a11	A	G	2: 130,533,313 (GRCm39)	I191T	possibly damaging	Het
Slc9c1	A	G	16: 45,398,238 (GRCm39)	N668D	probably damaging	Het
Supt16	A	T	14: 52,421,421 (GRCm39)	D41E	possibly damaging	Het
Tamalin	G	A	15: 101,126,932 (GRCm39)	V137I	probably damaging	Het
Ugt2b37	A	G	5: 87,388,741 (GRCm39)	S491P	probably damaging	Het
Urb1	G	T	16: 90,569,583 (GRCm39)	T1381N	possibly damaging	Het
Usp8	A	G	2: 126,584,094 (GRCm39)	I423M	probably benign	Het
Vmn1r191	T	A	13: 22,363,710 (GRCm39)	I15F	probably benign	Het
Zbtb5	A	T	4: 44,993,798 (GRCm39)	Y529N	probably damaging	Het
Zfp541	T	A	7: 15,816,918 (GRCm39)		probably null	Het

Other mutations in Cbarp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-04-16