Mutagenetix > Incidental Mutation

Incidental Mutation 'R9218:Cabp4'

699343

Institutional Source

Beutler Lab

Gene Symbol

Cabp4

Ensembl Gene

ENSMUSG00000024842

Gene Name

calcium binding protein 4

Synonyms

2410038D05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4185422-4189608 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 4188693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000025761

SMART Domains

Protein: ENSMUSP00000025761
Gene: ENSMUSG00000024842

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

93% (57/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,610,460 (GRCm39)	T378A	probably damaging	Het
Abcb4	A	G	5: 8,977,960 (GRCm39)	M513V	probably benign	Het
Abhd18	T	C	3: 40,871,201 (GRCm39)		probably null	Het
Adamtsl4	A	T	3: 95,588,404 (GRCm39)	Y561*	probably null	Het
Alx4	T	A	2: 93,473,172 (GRCm39)	F57I	possibly damaging	Het
Ap3b1	A	G	13: 94,584,959 (GRCm39)		probably null	Het
Arsj	A	C	3: 126,232,114 (GRCm39)	N287H	probably benign	Het
Bltp3a	T	A	17: 28,114,529 (GRCm39)	C1387S	probably benign	Het
Cdcp3	C	T	7: 130,863,728 (GRCm39)	H1244Y	unknown	Het
Cdh6	T	C	15: 13,057,556 (GRCm39)	N255S	probably null	Het
Ctrb1	C	T	8: 112,416,140 (GRCm39)	V49M	probably damaging	Het
Cts3	A	G	13: 61,716,583 (GRCm39)	S18P	possibly damaging	Het
Dcst1	A	T	3: 89,272,412 (GRCm39)	I17N	probably benign	Het
Dennd5a	G	A	7: 109,507,592 (GRCm39)	H823Y	probably damaging	Het
Dmrt2	T	G	19: 25,651,066 (GRCm39)	L84R	possibly damaging	Het
Dock9	G	T	14: 121,905,871 (GRCm39)	T93K	probably damaging	Het
Fsip2	C	T	2: 82,823,062 (GRCm39)	P6265L	probably damaging	Het
Fxn	T	A	19: 24,239,388 (GRCm39)	K168M	probably damaging	Het
Hc	A	G	2: 34,922,203 (GRCm39)	L541P	probably damaging	Het
Hsd3b5	T	C	3: 98,526,354 (GRCm39)	H364R	probably benign	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Inf2	G	A	12: 112,567,858 (GRCm39)	D163N	possibly damaging	Het
Iqcd	C	T	5: 120,738,707 (GRCm39)	P175L	possibly damaging	Het
Iqck	C	T	7: 118,540,902 (GRCm39)	A267V	probably damaging	Het
Kcnh1	A	T	1: 192,135,938 (GRCm39)	N66I	unknown	Het
Kif16b	T	A	2: 142,541,583 (GRCm39)	E1239V	possibly damaging	Het
Mctp1	A	G	13: 76,871,816 (GRCm39)	D362G	possibly damaging	Het
Muc5ac	T	A	7: 141,361,098 (GRCm39)	S1470T	probably damaging	Het
Neb	A	G	2: 52,183,638 (GRCm39)		probably null	Het
Odc1	T	A	12: 17,598,312 (GRCm39)	L151*	probably null	Het
Or4e1	A	T	14: 52,700,788 (GRCm39)	V226E	probably damaging	Het
Or51f23c-ps1	T	C	7: 102,431,373 (GRCm39)	I230T	possibly damaging	Het
Otof	T	A	5: 30,542,469 (GRCm39)	Q693L	probably benign	Het
Pitpnm2	G	A	5: 124,265,344 (GRCm39)	S753F	probably damaging	Het
Pkd1l3	C	A	8: 110,382,128 (GRCm39)	S1632*	probably null	Het
Pkhd1l1	A	G	15: 44,384,122 (GRCm39)	T1171A	possibly damaging	Het
Plpp2	A	G	10: 79,366,501 (GRCm39)	F104L	probably damaging	Het
Pmaip1	A	G	18: 66,596,370 (GRCm39)	R80G	probably damaging	Het
Pms2	G	A	5: 143,867,945 (GRCm39)	V850I	probably benign	Het
Psmd5	G	T	2: 34,747,794 (GRCm39)	Q288K	probably benign	Het
Rab37	G	A	11: 115,051,475 (GRCm39)	R194H	probably damaging	Het
Sds	C	T	5: 120,621,677 (GRCm39)	A273V	probably damaging	Het
Sema4f	A	G	6: 82,890,480 (GRCm39)	S776P	probably benign	Het
Sh3tc2	T	C	18: 62,101,101 (GRCm39)	C65R	probably benign	Het
Siglece	C	T	7: 43,307,162 (GRCm39)	R275H	possibly damaging	Het
Slc6a12	G	A	6: 121,335,623 (GRCm39)	A318T	probably damaging	Het
Smcr8	A	T	11: 60,670,705 (GRCm39)	I618L	probably benign	Het
Stt3a	A	G	9: 36,670,556 (GRCm39)	F72L	probably damaging	Het
Tecpr1	T	C	5: 144,154,049 (GRCm39)	K135E	possibly damaging	Het
Tmem62	A	G	2: 120,835,224 (GRCm39)	I516M	probably benign	Het
Tnpo2	C	A	8: 85,776,609 (GRCm39)	H439N	possibly damaging	Het
Tut4	A	T	4: 108,370,083 (GRCm39)	K661*	probably null	Het
Txlnb	C	T	10: 17,718,570 (GRCm39)	S467F	probably damaging	Het
Tyw5	G	A	1: 57,435,948 (GRCm39)	P81S	probably damaging	Het
Vamp2	A	G	11: 68,980,585 (GRCm39)	D51G	possibly damaging	Het
Vmn1r220	T	A	13: 23,368,609 (GRCm39)	Y29F	probably benign	Het
Vmn2r80	A	G	10: 79,030,270 (GRCm39)	T699A	possibly damaging	Het
Vps9d1	G	A	8: 123,977,674 (GRCm39)	T87I	probably benign	Het
Zfhx3	T	C	8: 109,520,501 (GRCm39)	V541A	probably benign	Het
Zmym4	A	T	4: 126,809,415 (GRCm39)	L295Q	probably damaging	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
IGL02756:Cabp4	APN	19	4,188,560 (GRCm39)	missense	possibly damaging	0.75
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
X0020:Cabp4	UTSW	19	4,189,306 (GRCm39)	missense	probably benign
Z1177:Cabp4	UTSW	19	4,186,221 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ACTCAAATGCATGCTGTGGC -3'
(R):5'- GGGGTCTGTAGGATTTCAACTCTC -3'

Sequencing Primer
(F):5'- TCTAGGTAACCAGGCTGGCTC -3'
(R):5'- CTTTGGTGGAGCTAGCCC -3'

Posted On

2022-02-07