Mutagenetix > Incidental Mutation

Incidental Mutation 'R1482:Cabp5'

164442

Institutional Source

Beutler Lab

Gene Symbol

Cabp5

Ensembl Gene

ENSMUSG00000005649

Gene Name

calcium binding protein 5

Synonyms

MMRRC Submission

039535-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1482 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

13132057-13142812 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 13132267 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 12 (L12*)

Ref Sequence

ENSEMBL: ENSMUSP00000122731 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005791] [ENSMUST00000117400] [ENSMUST00000152995]

AlphaFold

Q9JLK3

Predicted Effect

probably null
Transcript: ENSMUST00000005791
AA Change: L12*

SMART Domains

Protein: ENSMUSP00000005791
Gene: ENSMUSG00000005649
AA Change: L12*

Domain	Start	End	E-Value	Type
EFh	32	60	1.24e-6	SMART
Blast:EFh	71	96	8e-8	BLAST
EFh	109	137	7.75e-8	SMART
EFh	146	173	4.06e-2	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000117400
AA Change: L12*

SMART Domains

Protein: ENSMUSP00000112415
Gene: ENSMUSG00000005649
AA Change: L12*

Domain	Start	End	E-Value	Type
EFh	32	60	1.24e-6	SMART
Blast:EFh	71	96	8e-8	BLAST
EFh	109	137	7.75e-8	SMART
EFh	146	172	1.94e1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000152995
AA Change: L12*

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 93.8%
20x: 83.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to a subfamily of calcium binding proteins, which share similarity to calmodulin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Expression of this gene is retina-specific. The mouse homolog of this protein has been shown to express in the inner nuclear layer of the retina, suggested its role in neuronal functioning. The specific function of this gene is unknown. [provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	G	A	19: 3,767,192 (GRCm39)	D260N	probably benign	Het
Ankef1	A	T	2: 136,392,078 (GRCm39)	K422N	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Aqp6	A	T	15: 99,502,188 (GRCm39)	*294C	probably null	Het
Baz2a	T	A	10: 127,944,877 (GRCm39)	M38K	possibly damaging	Het
Bcl2l14	A	G	6: 134,404,265 (GRCm39)	D151G	probably damaging	Het
Cachd1	T	C	4: 100,845,795 (GRCm39)	V993A	possibly damaging	Het
Cd44	G	A	2: 102,661,728 (GRCm39)	T306I	probably damaging	Het
Cdc20	A	T	4: 118,294,253 (GRCm39)	N22K	probably benign	Het
Cdc6	T	A	11: 98,807,807 (GRCm39)	D433E	possibly damaging	Het
Clhc1	A	G	11: 29,503,725 (GRCm39)	D47G	probably damaging	Het
Csf2	T	C	11: 54,139,389 (GRCm39)	K65E	probably benign	Het
Cul9	T	C	17: 46,819,473 (GRCm39)	E2005G	probably damaging	Het
Dclk3	G	T	9: 111,296,888 (GRCm39)	R144L	possibly damaging	Het
Dcpp2	C	T	17: 24,119,516 (GRCm39)	T110I	probably damaging	Het
Disp1	A	T	1: 182,868,038 (GRCm39)	F1461I	possibly damaging	Het
Dnah1	C	T	14: 31,016,831 (GRCm39)	G1562D	probably damaging	Het
Ecpas	T	C	4: 58,820,163 (GRCm39)	K1217E	possibly damaging	Het
Exoc3l2	C	A	7: 19,229,284 (GRCm39)	P234Q	probably damaging	Het
F2rl2	T	C	13: 95,838,047 (GRCm39)	V364A	probably benign	Het
Fam151a	T	C	4: 106,602,876 (GRCm39)	L265P	probably damaging	Het
Fam151b	T	A	13: 92,586,674 (GRCm39)	Q253L	probably benign	Het
Fat1	G	A	8: 45,406,281 (GRCm39)	V1011M	probably benign	Het
Fbxo6	G	A	4: 148,230,441 (GRCm39)	R274*	probably null	Het
Fgd4	G	T	16: 16,302,337 (GRCm39)	Q73K	probably benign	Het
Fth1	A	G	19: 9,962,217 (GRCm39)	T154A	probably benign	Het
Hgs	C	A	11: 120,370,866 (GRCm39)	H572Q	probably benign	Het
Kcnk10	G	A	12: 98,456,207 (GRCm39)	T208I	probably damaging	Het
Kdm5b	G	A	1: 134,552,635 (GRCm39)	V1204M	probably damaging	Het
Keg1	A	C	19: 12,696,185 (GRCm39)	H166P	probably damaging	Het
Kifap3	A	T	1: 163,653,428 (GRCm39)	N338I	possibly damaging	Het
Llcfc1	A	T	6: 41,662,218 (GRCm39)	D74V	probably damaging	Het
Lman2	A	G	13: 55,499,218 (GRCm39)	V219A	possibly damaging	Het
Mettl25	A	G	10: 105,662,451 (GRCm39)	I173T	possibly damaging	Het
Mov10	G	T	3: 104,711,862 (GRCm39)	P170Q	probably damaging	Het
Mtif2	G	T	11: 29,486,847 (GRCm39)	A286S	probably damaging	Het
Mtmr10	A	G	7: 63,963,997 (GRCm39)	Y244C	probably damaging	Het
Nbea	A	T	3: 55,987,414 (GRCm39)	C359S	probably damaging	Het
Nbr1	C	T	11: 101,463,667 (GRCm39)	T633I	probably benign	Het
Nepn	A	T	10: 52,276,512 (GRCm39)	T22S	probably damaging	Het
Nup214	C	T	2: 31,924,478 (GRCm39)	S1669F	probably damaging	Het
Oacyl	T	A	18: 65,871,043 (GRCm39)	L342M	probably damaging	Het
Or2ag17	A	G	7: 106,389,540 (GRCm39)	F223L	probably benign	Het
Or52b2	T	A	7: 104,986,463 (GRCm39)	R153S	probably damaging	Het
Or6c205	T	A	10: 129,087,012 (GRCm39)	I203N	possibly damaging	Het
Or7e176	G	A	9: 20,172,020 (GRCm39)	V295I	possibly damaging	Het
Oxnad1	T	C	14: 31,821,590 (GRCm39)		probably null	Het
Pard3b	A	T	1: 62,205,526 (GRCm39)	D440V	probably damaging	Het
Pou3f2	T	G	4: 22,486,960 (GRCm39)	D391A	possibly damaging	Het
Ptprk	T	C	10: 28,139,512 (GRCm39)	V79A	probably benign	Het
Rwdd2a	A	G	9: 86,456,331 (GRCm39)	D169G	probably damaging	Het
Scn3b	A	C	9: 40,190,792 (GRCm39)	D74A	probably damaging	Het
Setbp1	C	T	18: 79,130,050 (GRCm39)	D61N	probably damaging	Het
Setx	T	A	2: 29,053,004 (GRCm39)	D2089E	probably damaging	Het
Vmn2r69	C	G	7: 85,056,082 (GRCm39)	W685C	probably damaging	Het
Vps8	A	G	16: 21,400,348 (GRCm39)	Q1272R	probably benign	Het
Wnk4	T	C	11: 101,160,462 (GRCm39)	F699L	probably damaging	Het
Zfp616	T	A	11: 73,974,803 (GRCm39)	N448K	possibly damaging	Het
Zfp618	C	A	4: 63,033,685 (GRCm39)	D307E	possibly damaging	Het
Zfp687	A	G	3: 94,914,844 (GRCm39)	F1219S	probably damaging	Het
Zfpm2	T	A	15: 40,962,687 (GRCm39)	D248E	probably damaging	Het

Other mutations in Cabp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01090:Cabp5	APN	7	13,139,412 (GRCm39)	missense	probably damaging	1.00
IGL01621:Cabp5	APN	7	13,135,189 (GRCm39)	missense	probably damaging	1.00
IGL02391:Cabp5	APN	7	13,132,269 (GRCm39)	nonsense	probably null
IGL02712:Cabp5	APN	7	13,137,271 (GRCm39)	missense	probably damaging	1.00
R0565:Cabp5	UTSW	7	13,135,260 (GRCm39)	missense	probably damaging	0.99
R1231:Cabp5	UTSW	7	13,139,350 (GRCm39)	missense	probably damaging	1.00
R4736:Cabp5	UTSW	7	13,134,664 (GRCm39)	splice site	probably null
R6036:Cabp5	UTSW	7	13,135,260 (GRCm39)	missense	probably damaging	0.99
R6036:Cabp5	UTSW	7	13,135,260 (GRCm39)	missense	probably damaging	0.99
R7162:Cabp5	UTSW	7	13,135,260 (GRCm39)	missense	probably damaging	0.99
R7769:Cabp5	UTSW	7	13,134,658 (GRCm39)	missense	probably benign	0.00
R7810:Cabp5	UTSW	7	13,132,263 (GRCm39)	missense	possibly damaging	0.90
R8012:Cabp5	UTSW	7	13,141,706 (GRCm39)	critical splice acceptor site	probably null
R8238:Cabp5	UTSW	7	13,139,377 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTCAGAGGCCCACATTGGCTC -3'
(R):5'- TGATCACTGACCCTTATGCCCAAAC -3'

Sequencing Primer
(F):5'- GCTGTCACAGATCTCTCACAGG -3'
(R):5'- AACAGTGCTACCTGAGCTTC -3'

Posted On

2014-03-28