Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02756:Cabp4'

306435

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cabp4

Ensembl Gene

ENSMUSG00000024842

Gene Name

calcium binding protein 4

Synonyms

2410038D05Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02756

Quality Score

Status

Chromosome

Chromosomal Location

4185422-4189608 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 4188560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 173 (V173L)

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

possibly damaging
Transcript: ENSMUST00000025761
AA Change: V173L

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000025761
Gene: ENSMUSG00000024842
AA Change: V173L

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	T	10: 87,000,970 (GRCm39)	D54V	probably damaging	Het
Adamts18	C	A	8: 114,440,976 (GRCm39)		probably benign	Het
Angptl3	T	A	4: 98,919,399 (GRCm39)	L53Q	probably damaging	Het
Apc	A	G	18: 34,447,588 (GRCm39)	T1461A	probably damaging	Het
Arl11	T	A	14: 61,548,535 (GRCm39)	V115D	probably damaging	Het
Casq1	T	A	1: 172,042,672 (GRCm39)	D230V	probably damaging	Het
Cdc42bpa	A	G	1: 179,936,824 (GRCm39)	I821V	possibly damaging	Het
Cfap65	T	C	1: 74,944,239 (GRCm39)	Y1494C	probably benign	Het
Chd1	T	A	17: 15,951,069 (GRCm39)	S215T	probably damaging	Het
Csf2rb2	T	C	15: 78,169,049 (GRCm39)	E593G	possibly damaging	Het
Cstf1	A	G	2: 172,217,795 (GRCm39)	D136G	probably damaging	Het
Ddx19b	T	C	8: 111,737,910 (GRCm39)		probably benign	Het
Dido1	A	T	2: 180,303,716 (GRCm39)	L1396Q	probably benign	Het
Ermn	A	G	2: 57,937,824 (GRCm39)	I263T	probably damaging	Het
F12	T	A	13: 55,568,880 (GRCm39)	Q294L	possibly damaging	Het
Far2	A	T	6: 148,058,889 (GRCm39)	I192F	probably damaging	Het
Fshb	T	A	2: 106,889,218 (GRCm39)	I29F	probably damaging	Het
Gcgr	T	A	11: 120,427,811 (GRCm39)	Y251N	probably benign	Het
Gpr158	A	G	2: 21,831,890 (GRCm39)	I997V	possibly damaging	Het
Gprc5d	A	G	6: 135,093,613 (GRCm39)	V98A	probably damaging	Het
H2-T23	T	C	17: 36,342,580 (GRCm39)	E186G	probably damaging	Het
Khdrbs3	C	T	15: 68,896,685 (GRCm39)	T115I	probably benign	Het
Kifap3	C	T	1: 163,689,597 (GRCm39)	T527M	probably damaging	Het
Mfsd2a	C	T	4: 122,842,332 (GRCm39)	A512T	probably benign	Het
Mmp9	A	G	2: 164,791,235 (GRCm39)	D135G	probably benign	Het
Mylk	T	C	16: 34,784,016 (GRCm39)	V1394A	probably benign	Het
Nek9	A	C	12: 85,358,110 (GRCm39)		probably null	Het
Or51q1c	T	C	7: 103,652,866 (GRCm39)	I128T	probably damaging	Het
Or8k16	T	C	2: 85,520,402 (GRCm39)	S210P	probably damaging	Het
P2rx2	T	A	5: 110,490,276 (GRCm39)		probably benign	Het
P4htm	A	G	9: 108,456,977 (GRCm39)	L410P	probably damaging	Het
Pik3c2a	A	T	7: 115,963,748 (GRCm39)	W921R	probably benign	Het
Pnisr	T	C	4: 21,862,175 (GRCm39)	F288L	probably benign	Het
Ppp4r3a	C	T	12: 101,024,582 (GRCm39)		probably null	Het
Prss34	T	C	17: 25,518,251 (GRCm39)	S144P	probably damaging	Het
Qrsl1	T	C	10: 43,758,110 (GRCm39)	T328A	probably benign	Het
Rab33b	A	T	3: 51,391,945 (GRCm39)	T65S	probably damaging	Het
Rdh8	A	G	9: 20,736,637 (GRCm39)	S235G	possibly damaging	Het
Rrp12	T	C	19: 41,884,500 (GRCm39)	K6R	probably benign	Het
Sec24a	T	C	11: 51,587,560 (GRCm39)	D1025G	probably benign	Het
Sgo2a	T	G	1: 58,055,509 (GRCm39)	N564K	probably damaging	Het
Slc43a3	A	T	2: 84,774,612 (GRCm39)	M130L	probably benign	Het
Soat1	T	C	1: 156,274,145 (GRCm39)	I89V	probably benign	Het
St3gal5	A	G	6: 72,126,157 (GRCm39)	D307G	probably null	Het
Stxbp3-ps	C	T	19: 9,535,193 (GRCm39)		noncoding transcript	Het
Tacr2	A	G	10: 62,097,469 (GRCm39)		probably benign	Het
Tg	C	T	15: 66,606,435 (GRCm39)	T193I	probably benign	Het
Tnik	A	G	3: 28,596,179 (GRCm39)	T191A	probably damaging	Het
Trim27	T	C	13: 21,374,256 (GRCm39)		probably benign	Het
Usf2	A	T	7: 30,646,417 (GRCm39)	C134*	probably null	Het
Usp14	A	G	18: 10,001,769 (GRCm39)		probably null	Het
Usp47	T	C	7: 111,692,270 (GRCm39)	S911P	possibly damaging	Het
Vmn1r73	T	A	7: 11,490,574 (GRCm39)	S131T	possibly damaging	Het
Vmn2r80	T	C	10: 79,030,145 (GRCm39)	I657T	probably damaging	Het
Zfp935	A	T	13: 62,602,701 (GRCm39)	C166*	probably null	Het

Other mutations in Cabp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00927:Cabp4	APN	19	4,189,406 (GRCm39)	missense	possibly damaging	0.88
IGL01372:Cabp4	APN	19	4,189,322 (GRCm39)	missense	probably benign	0.15
IGL01650:Cabp4	APN	19	4,189,323 (GRCm39)	missense	probably benign
R4809:Cabp4	UTSW	19	4,189,290 (GRCm39)	missense	probably benign
R4909:Cabp4	UTSW	19	4,187,120 (GRCm39)	missense	possibly damaging	0.76
R5252:Cabp4	UTSW	19	4,186,067 (GRCm39)	unclassified	probably benign
R5502:Cabp4	UTSW	19	4,181,228 (GRCm39)	unclassified	probably benign
R5609:Cabp4	UTSW	19	4,189,251 (GRCm39)	missense	probably benign	0.37
R7474:Cabp4	UTSW	19	4,189,398 (GRCm39)	missense	probably benign	0.02
R7732:Cabp4	UTSW	19	4,185,994 (GRCm39)	missense	probably benign	0.34
R8713:Cabp4	UTSW	19	4,186,159 (GRCm39)	missense	probably benign	0.08
R9218:Cabp4	UTSW	19	4,188,693 (GRCm39)	critical splice acceptor site	probably null
X0020:Cabp4	UTSW	19	4,189,306 (GRCm39)	missense	probably benign
Z1177:Cabp4	UTSW	19	4,186,221 (GRCm39)	missense	probably damaging	0.96

Posted On

2015-04-16