Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02160:Cabp2'

282454

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cabp2

Ensembl Gene

ENSMUSG00000024857

Gene Name

calcium binding protein 2

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

IGL02160

Quality Score

Status

Chromosome

Chromosomal Location

4131578-4137340 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 4134868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125255 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159148] [ENSMUST00000159556] [ENSMUST00000159593] [ENSMUST00000162908]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000159148

SMART Domains

Protein: ENSMUSP00000125740
Gene: ENSMUSG00000024857

Domain	Start	End	E-Value	Type
low complexity region	36	46	N/A	INTRINSIC
EFh	65	93	2.62e-5	SMART
Blast:EFh	101	126	3e-6	BLAST
EFh	139	167	1.26e-7	SMART
EFh	176	203	3.85e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159556

SMART Domains

Protein: ENSMUSP00000124389
Gene: ENSMUSG00000024857

Domain	Start	End	E-Value	Type
EFh	30	58	2.62e-5	SMART
Blast:EFh	66	91	2e-6	BLAST
EFh	104	132	1.26e-7	SMART
EFh	141	168	3.85e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159593

SMART Domains

Protein: ENSMUSP00000124607
Gene: ENSMUSG00000024857

Domain	Start	End	E-Value	Type
low complexity region	36	46	N/A	INTRINSIC
Pfam:EF-hand_1	65	93	2.8e-9	PFAM
Pfam:EF-hand_6	65	96	6.9e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162584

Predicted Effect

probably benign
Transcript: ENSMUST00000162908

SMART Domains

Protein: ENSMUSP00000125255
Gene: ENSMUSG00000024857

Domain	Start	End	E-Value	Type
low complexity region	25	39	N/A	INTRINSIC
EFh	83	111	2.62e-5	SMART
Blast:EFh	119	144	4e-6	BLAST
EFh	157	185	1.26e-7	SMART
EFh	194	221	3.85e-3	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to a subfamily of calcium binding proteins that share similarity to calmodulin. Like calmodulin, these family members can likely stimulate calmodulin-dependent kinase II and the protein phosphatase calcineurin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous knockout affects calcium channels in cochlear inner hair cell synapses, resulting in hearing impairment. It also affects transmission of responses to light through the retinal circuits. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	A	G	9: 53,503,287 (GRCm39)	V184A	probably benign	Het
Adam19	G	A	11: 46,030,522 (GRCm39)	C750Y	probably damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Carmil3	T	C	14: 55,731,015 (GRCm39)	M94T	possibly damaging	Het
Ccdc107	A	G	4: 43,495,736 (GRCm39)	D213G	probably damaging	Het
Cdh23	T	C	10: 60,433,544 (GRCm39)		probably benign	Het
Cfap251	A	T	5: 123,394,081 (GRCm39)	E323D	unknown	Het
Cfhr2	T	A	1: 139,738,664 (GRCm39)	D299V	probably benign	Het
Clcn7	T	C	17: 25,368,004 (GRCm39)		probably benign	Het
Clspn	G	A	4: 126,475,303 (GRCm39)	E1019K	probably benign	Het
Ctnna3	A	G	10: 64,086,477 (GRCm39)	T350A	probably benign	Het
Dmbt1	G	A	7: 130,684,418 (GRCm39)	G638E	probably damaging	Het
Ext2	A	T	2: 93,643,929 (GRCm39)	D117E	probably benign	Het
Fem1al	A	T	11: 29,773,593 (GRCm39)	Y621*	probably null	Het
Ffar4	T	A	19: 38,085,903 (GRCm39)	V110D	possibly damaging	Het
Foxred2	G	T	15: 77,839,850 (GRCm39)	Q147K	probably benign	Het
Heatr9	T	C	11: 83,409,651 (GRCm39)	D107G	probably benign	Het
Hmgxb3	G	A	18: 61,304,308 (GRCm39)	A94V	probably damaging	Het
Htr5b	A	T	1: 121,455,774 (GRCm39)	S49T	possibly damaging	Het
Il1rl1	A	T	1: 40,500,997 (GRCm39)	M458L	probably benign	Het
Il23r	A	T	6: 67,400,562 (GRCm39)	N589K	probably benign	Het
Kbtbd11	G	A	8: 15,078,801 (GRCm39)	V467M	probably damaging	Het
Kidins220	T	A	12: 25,054,110 (GRCm39)	Y537N	probably damaging	Het
Kif27	T	A	13: 58,473,812 (GRCm39)	E728D	probably damaging	Het
Lum	T	C	10: 97,404,443 (GRCm39)	S113P	probably damaging	Het
Mkln1	A	G	6: 31,469,726 (GRCm39)		probably benign	Het
Mmp17	A	G	5: 129,672,633 (GRCm39)	D195G	possibly damaging	Het
Naa38	T	A	11: 69,287,194 (GRCm39)		probably benign	Het
Naalad2	G	A	9: 18,291,233 (GRCm39)	A191V	probably damaging	Het
Naip6	A	T	13: 100,435,933 (GRCm39)	H863Q	probably benign	Het
Ncoa6	A	G	2: 155,263,003 (GRCm39)	V477A	possibly damaging	Het
Nipal3	G	T	4: 135,201,728 (GRCm39)	Y153*	probably null	Het
Or10s1	A	T	9: 39,986,482 (GRCm39)	N297I	probably damaging	Het
Or13d1	A	G	4: 52,971,194 (GRCm39)	D191G	probably damaging	Het
Or4c12	G	T	2: 89,774,149 (GRCm39)	H103Q	probably damaging	Het
Or4g16	G	A	2: 111,137,143 (GRCm39)	V198I	probably benign	Het
Or9s23	T	A	1: 92,501,079 (GRCm39)	L62Q	probably damaging	Het
Pik3c2a	G	A	7: 115,987,299 (GRCm39)	P541S	probably damaging	Het
Ppargc1b	A	T	18: 61,443,506 (GRCm39)	D552E	probably damaging	Het
Ppfia3	C	A	7: 45,009,475 (GRCm39)		probably benign	Het
Prcp	G	A	7: 92,566,969 (GRCm39)	S227N	probably benign	Het
Ptprq	T	A	10: 107,489,426 (GRCm39)	T900S	probably benign	Het
Ralgapa2	G	A	2: 146,190,360 (GRCm39)		probably benign	Het
Rcsd1	A	G	1: 165,485,148 (GRCm39)	S102P	probably damaging	Het
Rfwd3	T	A	8: 111,999,707 (GRCm39)	N757I	possibly damaging	Het
Rnf217	A	T	10: 31,381,767 (GRCm39)		probably null	Het
Scn2a	A	G	2: 65,560,460 (GRCm39)	D1230G	probably damaging	Het
Sdc3	T	C	4: 130,545,886 (GRCm39)		probably benign	Het
Slc27a4	G	T	2: 29,695,974 (GRCm39)	D170Y	probably benign	Het
Tcof1	A	G	18: 60,981,815 (GRCm39)		probably benign	Het
Ticam1	T	A	17: 56,577,560 (GRCm39)	I512F	possibly damaging	Het
Ticrr	T	C	7: 79,343,767 (GRCm39)	C1211R	probably benign	Het
Tlr2	A	T	3: 83,744,678 (GRCm39)	N468K	possibly damaging	Het
Tmod4	T	C	3: 95,036,424 (GRCm39)		probably benign	Het
Tnxb	T	C	17: 34,933,719 (GRCm39)	S2380P	probably benign	Het
Top6bl	T	C	19: 4,713,612 (GRCm39)	D276G	probably damaging	Het
Tox	A	G	4: 6,711,537 (GRCm39)	V309A	probably damaging	Het
Tpgs2	A	G	18: 25,273,637 (GRCm39)	F175L	possibly damaging	Het
Trim43b	A	G	9: 88,973,683 (GRCm39)	S17P	probably benign	Het
Ttc21a	G	T	9: 119,785,989 (GRCm39)	L662F	probably damaging	Het
Ubqln1	A	T	13: 58,339,951 (GRCm39)	N261K	probably damaging	Het
Umodl1	T	C	17: 31,205,091 (GRCm39)	V562A	probably damaging	Het
Unc45b	C	T	11: 82,831,007 (GRCm39)		probably benign	Het
Vars1	T	A	17: 35,220,478 (GRCm39)	I20N	probably damaging	Het
Vcan	T	C	13: 89,832,612 (GRCm39)	N3092D	probably damaging	Het
Zc3h6	G	T	2: 128,839,605 (GRCm39)	E139D	probably benign	Het

Other mutations in Cabp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02338:Cabp2	APN	19	4,134,154 (GRCm39)	missense	possibly damaging	0.74
R0017:Cabp2	UTSW	19	4,136,242 (GRCm39)	missense	possibly damaging	0.88
R0153:Cabp2	UTSW	19	4,134,913 (GRCm39)	splice site	probably benign
R0432:Cabp2	UTSW	19	4,134,903 (GRCm39)	missense	possibly damaging	0.59
R2027:Cabp2	UTSW	19	4,137,126 (GRCm39)	missense	probably damaging	1.00
R3693:Cabp2	UTSW	19	4,133,593 (GRCm39)	missense	probably benign	0.02
R3694:Cabp2	UTSW	19	4,133,593 (GRCm39)	missense	probably benign	0.02
R3695:Cabp2	UTSW	19	4,133,593 (GRCm39)	missense	probably benign	0.02
R5935:Cabp2	UTSW	19	4,136,497 (GRCm39)	missense	probably damaging	1.00
R5939:Cabp2	UTSW	19	4,136,470 (GRCm39)	missense	possibly damaging	0.85
R6413:Cabp2	UTSW	19	4,135,698 (GRCm39)	splice site	probably null
R7023:Cabp2	UTSW	19	4,132,658 (GRCm39)	critical splice acceptor site	probably null
R8113:Cabp2	UTSW	19	4,135,582 (GRCm39)	missense	probably damaging	1.00
R8544:Cabp2	UTSW	19	4,134,892 (GRCm39)	missense	probably damaging	1.00
R9125:Cabp2	UTSW	19	4,135,597 (GRCm39)	missense	probably damaging	1.00
R9310:Cabp2	UTSW	19	4,136,464 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16