Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01650:Cabp4'

102816

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cabp4

Ensembl Gene

ENSMUSG00000024842

Gene Name

calcium binding protein 4

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01650

Quality Score

Status

Chromosome

Chromosomal Location

4135425-4139609 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4139324 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 78 (E78G)

Ref Sequence

ENSEMBL: ENSMUSP00000025761 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025761] [ENSMUST00000096338]

AlphaFold

Q8VHC5

PDB Structure

NMR structure of Ca2+ bound CaBP4 C-domain [SOLUTION NMR]
NMR structure of Ca2+ bound CaBP4 N-domain [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000025761
AA Change: E78G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025761
Gene: ENSMUSG00000024842
AA Change: E78G

Domain	Start	End	E-Value	Type
low complexity region	45	67	N/A	INTRINSIC
low complexity region	79	97	N/A	INTRINSIC
EFh	129	157	1.08e-6	SMART
Blast:EFh	165	193	2e-7	BLAST
EFh	206	234	1.05e-4	SMART
EFh	243	271	1.55e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000096338

SMART Domains

Protein: ENSMUSP00000094062
Gene: ENSMUSG00000044724

Domain	Start	End	E-Value	Type
Pfam:7tm_1	47	295	7e-19	PFAM
low complexity region	347	361	N/A	INTRINSIC
low complexity region	419	433	N/A	INTRINSIC

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 encodes a member of the CABP family of calcium binding protein characterized by four EF-hand motifs. Mutations in this gene are associated with congenital stationary night blindness type 2B. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice with disruptions in this gene display structural and electrophysiological abnormalities in the retina. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	G	A	3: 36,992,673		probably benign	Het
Agbl1	A	G	7: 76,420,319	D281G	probably damaging	Het
Arhgap28	T	C	17: 67,873,132	E236G	probably damaging	Het
Btbd3	A	T	2: 138,284,105	D334V	probably damaging	Het
Clcn4	T	C	7: 7,284,281		probably benign	Het
Col14a1	A	G	15: 55,406,693	Y600C	unknown	Het
Cpne4	A	G	9: 104,901,511	D167G	probably damaging	Het
Eif3a	T	A	19: 60,773,996	I450F	probably damaging	Het
Enpp2	T	A	15: 54,919,933	Y10F	probably benign	Het
Fam227a	A	T	15: 79,634,073	H339Q	possibly damaging	Het
Far2	C	A	6: 148,173,487	T406K	possibly damaging	Het
Fmo1	A	G	1: 162,833,584	S377P	probably benign	Het
Fsip2	G	A	2: 82,991,086	S5721N	probably benign	Het
Gatb	T	C	3: 85,613,484	I300T	possibly damaging	Het
Gpam	T	C	19: 55,081,700	N375D	probably benign	Het
Gsdma	G	T	11: 98,673,687	D331Y	probably damaging	Het
Kif13b	T	C	14: 64,765,145	V1073A	probably benign	Het
Mfsd4b1	T	A	10: 40,003,119	M261L	probably benign	Het
Nav1	A	T	1: 135,454,760	D1321E	probably damaging	Het
Olfr1312	A	G	2: 112,042,375	I219T	possibly damaging	Het
Olfr592	A	G	7: 103,187,079	I159M	probably benign	Het
Olfr813	T	A	10: 129,857,067	L183Q	probably damaging	Het
Olfr816	A	G	10: 129,911,681	V199A	probably benign	Het
Olfr951	G	T	9: 39,393,956	S55I	probably damaging	Het
Ppp1r10	G	T	17: 35,931,161	R857L	unknown	Het
Prune2	T	A	19: 17,168,292	I2752N	possibly damaging	Het
Pxdn	T	C	12: 30,002,401	I859T	probably benign	Het
Ros1	T	C	10: 52,154,979	D510G	probably damaging	Het
Sema3g	C	A	14: 31,221,787	P208H	probably benign	Het
Smcr8	T	C	11: 60,778,184	F53L	probably damaging	Het
Tnfsf13b	A	T	8: 10,031,411	I219F	probably damaging	Het
Vmn1r62	T	C	7: 5,676,025	V235A	probably damaging	Het
Vmn2r44	C	A	7: 8,380,104		probably null	Het
Zkscan7	A	G	9: 122,894,827	D287G	probably benign	Het

Other mutations in Cabp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00927:Cabp4	APN	19	4139407	missense	possibly damaging	0.88
IGL01372:Cabp4	APN	19	4139323	missense	probably benign	0.15
IGL02756:Cabp4	APN	19	4138561	missense	possibly damaging	0.75
R4809:Cabp4	UTSW	19	4139291	missense	probably benign
R4909:Cabp4	UTSW	19	4137121	missense	possibly damaging	0.76
R5252:Cabp4	UTSW	19	4136068	unclassified	probably benign
R5502:Cabp4	UTSW	19	4131229	unclassified	probably benign
R5609:Cabp4	UTSW	19	4139252	missense	probably benign	0.37
R7474:Cabp4	UTSW	19	4139399	missense	probably benign	0.02
R7732:Cabp4	UTSW	19	4135995	missense	probably benign	0.34
R8713:Cabp4	UTSW	19	4136160	missense	probably benign	0.08
R9218:Cabp4	UTSW	19	4138694	critical splice acceptor site	probably null
X0020:Cabp4	UTSW	19	4139307	missense	probably benign
Z1177:Cabp4	UTSW	19	4136222	missense	probably damaging	0.96

Posted On

2014-01-21