Mutagenetix > Incidental Mutation

Incidental Mutation 'R7087:Cbarp'

549964

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

045181-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7087 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79966268-79976189 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79972242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 136 (S136P)

Ref Sequence

ENSEMBL: ENSMUSP00000132978 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105369] [ENSMUST00000123967] [ENSMUST00000132523] [ENSMUST00000142853] [ENSMUST00000147778] [ENSMUST00000169546] [ENSMUST00000170219]

AlphaFold

Q66L44

Predicted Effect

probably damaging
Transcript: ENSMUST00000105369
AA Change: S129P

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

SMART Domains

Protein: ENSMUSP00000101008
Gene: ENSMUSG00000035640
AA Change: S129P

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

unknown
Transcript: ENSMUST00000123967
AA Change: V100A

SMART Domains

Protein: ENSMUSP00000125962
Gene: ENSMUSG00000035640
AA Change: V100A

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
low complexity region	68	87	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: ENSMUST00000142853

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 damaging
Transcript: ENSMUST00000169546
AA Change: S136P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132978
Gene: ENSMUSG00000035640
AA Change: S136P

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: S129P

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

SMART Domains

Protein: ENSMUSP00000131487
Gene: ENSMUSG00000035640
AA Change: S129P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	T	A	7: 119,373,870 (GRCm39)	V252D	probably damaging	Het
Adprhl1	A	G	8: 13,271,856 (GRCm39)	L1634P	probably damaging	Het
Arhgef4	A	T	1: 34,850,767 (GRCm39)	R438W	probably damaging	Het
Asb3	A	C	11: 30,948,321 (GRCm39)	K38T	probably benign	Het
Atp1a4	A	T	1: 172,074,269 (GRCm39)	L328Q	probably damaging	Het
BC030500	T	A	8: 59,365,388 (GRCm39)	I13N	unknown	Het
Ccdc18	T	A	5: 108,343,988 (GRCm39)	D910E	probably benign	Het
Cenpo	C	T	12: 4,265,307 (GRCm39)	E238K	probably benign	Het
Cmya5	A	G	13: 93,227,483 (GRCm39)	V2535A	probably benign	Het
Ddx39b	C	T	17: 35,472,025 (GRCm39)	R355C	probably damaging	Het
Dock10	T	C	1: 80,570,543 (GRCm39)	T338A	probably benign	Het
Dpysl3	T	C	18: 43,496,595 (GRCm39)	D147G	probably damaging	Het
Eif3i	G	T	4: 129,486,104 (GRCm39)	H284Q	probably damaging	Het
Erbb4	A	T	1: 68,779,650 (GRCm39)	L42Q	probably null	Het
Exoc3l2	A	G	7: 19,203,582 (GRCm39)	E58G		Het
Fgf18	C	T	11: 33,074,677 (GRCm39)	R98Q	probably damaging	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Gp2	T	A	7: 119,049,455 (GRCm39)	T361S	probably damaging	Het
Gtsf1	A	T	15: 103,333,876 (GRCm39)	H33Q	probably damaging	Het
Hoxa4	G	A	6: 52,168,271 (GRCm39)	T133M	probably damaging	Het
Hspb7	C	A	4: 141,149,866 (GRCm39)	T84K	possibly damaging	Het
Kcnq4	C	T	4: 120,561,596 (GRCm39)	R491H	probably damaging	Het
Kdm7a	C	T	6: 39,152,315 (GRCm39)	R127H	probably benign	Het
Lsm10	C	T	4: 125,991,952 (GRCm39)	R103C	probably damaging	Het
Mgme1	T	C	2: 144,114,101 (GRCm39)	S68P	probably damaging	Het
Nes	G	T	3: 87,887,065 (GRCm39)	V1775L	probably benign	Het
Nfrkb	C	T	9: 31,331,228 (GRCm39)	Q1250*	probably null	Het
Or4s2	T	C	2: 88,473,197 (GRCm39)	F29L	probably damaging	Het
Phf21b	A	T	15: 84,676,033 (GRCm39)	L338H	probably damaging	Het
Pira12	G	A	7: 3,900,218 (GRCm39)	A128V	probably benign	Het
Ppp2r5b	A	G	19: 6,282,580 (GRCm39)	V190A	possibly damaging	Het
Prmt1	T	C	7: 44,631,007 (GRCm39)		probably null	Het
Rusc1	A	G	3: 88,996,799 (GRCm39)	V639A	probably damaging	Het
Slc24a2	T	A	4: 86,909,456 (GRCm39)		probably null	Het
Slc39a10	T	C	1: 46,874,880 (GRCm39)	T141A	probably damaging	Het
Spta1	A	T	1: 174,002,076 (GRCm39)	M69L	probably benign	Het
St8sia5	A	C	18: 77,342,238 (GRCm39)	Q316P	possibly damaging	Het
Svs3a	T	C	2: 164,131,717 (GRCm39)	I96T	possibly damaging	Het
Syne1	T	A	10: 5,492,024 (GRCm39)		probably benign	Het
Trappc3	T	C	4: 126,166,474 (GRCm39)	S16P	probably benign	Het
Vmn2r44	A	T	7: 8,381,366 (GRCm39)	F176I	probably benign	Het
Wnk1	C	T	6: 120,014,491 (GRCm39)	E35K	possibly damaging	Het
Zfp354c	A	G	11: 50,706,040 (GRCm39)	L345P	probably damaging	Het
Zfp608	T	A	18: 55,032,469 (GRCm39)	K490N	probably damaging	Het
Zfp687	A	C	3: 94,917,524 (GRCm39)	S709A	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
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
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'- CCTTGCTTAGACCTCGATATTGATAC -3'
(R):5'- TGTTTCCTTAACGCCCAGGC -3'

Sequencing Primer
(F):5'- GATACTTACTCTACTCTCCACCCTG -3'
(R):5'- AGCGGATGAGCGAGTGCC -3'

Posted On

2019-05-15