Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01621:Cabp5'

92563

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cabp5

Ensembl Gene

ENSMUSG00000005649

Gene Name

calcium binding protein 5

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01621

Quality Score

Status

Chromosome

Chromosomal Location

13398132-13408887 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13401264 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 43 (D43G)

Ref Sequence

ENSEMBL: ENSMUSP00000005791 (fasta)

Gene Model

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

AlphaFold

Q9JLK3

Predicted Effect

probably damaging
Transcript: ENSMUST00000005791
AA Change: D43G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000005791
Gene: ENSMUSG00000005649
AA Change: D43G

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 damaging
Transcript: ENSMUST00000117400
AA Change: D43G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112415
Gene: ENSMUSG00000005649
AA Change: D43G

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

unknown
Transcript: ENSMUST00000152995
AA Change: T33A

Coding Region Coverage

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	T	5: 63,898,383	T154I	possibly damaging	Het
4933434E20Rik	T	A	3: 90,064,502	M56K	possibly damaging	Het
5730559C18Rik	C	A	1: 136,219,775	A402S	probably damaging	Het
A730017C20Rik	A	G	18: 59,062,386	M1V	probably null	Het
Abca6	A	G	11: 110,184,708	L1319S	probably damaging	Het
Adh4	C	T	3: 138,429,027		probably benign	Het
Aloxe3	A	G	11: 69,130,013	N188S	probably benign	Het
Ap1s1	G	A	5: 137,041,804	R119*	probably null	Het
Apc2	T	G	10: 80,306,201	L318R	probably damaging	Het
Atg101	A	G	15: 101,287,095	S33G	possibly damaging	Het
Atp8a2	A	T	14: 60,015,868		probably benign	Het
Bpifb9b	C	A	2: 154,316,951		probably null	Het
Braf	A	T	6: 39,646,853		probably benign	Het
Cfap46	T	C	7: 139,606,607	N2462S	unknown	Het
Cit	C	T	5: 115,992,603		probably benign	Het
Cpa4	T	C	6: 30,574,416	V68A	probably damaging	Het
Cyp2j5	T	C	4: 96,629,554	I474V	probably benign	Het
Dennd1a	C	A	2: 37,844,809	D49Y	probably damaging	Het
Dlg5	T	C	14: 24,148,221	D1525G	probably damaging	Het
Dnajc18	C	T	18: 35,680,840	R292H	probably benign	Het
Dync2h1	A	G	9: 7,140,897		probably null	Het
E2f6	A	G	12: 16,825,368	D268G	probably benign	Het
Evi2b	T	A	11: 79,516,300	T150S	probably damaging	Het
F13b	A	G	1: 139,503,851	D53G	probably benign	Het
Fbxo38	G	A	18: 62,522,524		probably benign	Het
Flnb	C	T	14: 7,950,470	P2596L	probably damaging	Het
Fyco1	A	G	9: 123,827,182		probably benign	Het
Gm13023	T	C	4: 143,793,932	F85L	probably benign	Het
Gm21759	A	G	5: 8,179,775		probably benign	Het
Gtse1	A	G	15: 85,875,082	N597S	probably benign	Het
Hcn3	G	T	3: 89,147,723	S739Y	probably damaging	Het
Ighv9-4	T	A	12: 114,299,992	N107I	probably damaging	Het
Iqub	T	C	6: 24,446,212	K738E	probably benign	Het
Itga6	A	T	2: 71,825,656	D308V	probably benign	Het
Klf12	T	C	14: 100,023,149	Y48C	probably damaging	Het
Klhdc9	A	G	1: 171,358,816	*351Q	probably null	Het
Krt40	A	T	11: 99,542,868	N97K	probably damaging	Het
Lrit1	A	C	14: 37,060,155	T262P	probably damaging	Het
Mcoln1	T	C	8: 3,510,910	Y411H	probably damaging	Het
Mfsd4a	A	G	1: 132,054,143	S149P	probably benign	Het
Mipep	A	G	14: 60,796,165		probably benign	Het
Mslnl	A	G	17: 25,743,667		probably benign	Het
N4bp2	A	T	5: 65,790,924	H299L	probably damaging	Het
Nbn	C	T	4: 15,965,221	P190S	probably benign	Het
Nos1	T	A	5: 117,945,884	I1253N	probably damaging	Het
Nup210	G	T	6: 91,030,117	F572L	probably damaging	Het
Olfr1381	T	C	11: 49,552,137	L130P	probably damaging	Het
Olfr370	T	C	8: 83,541,618	V158A	probably benign	Het
Olfr390	T	C	11: 73,787,277	F113S	probably damaging	Het
P4htm	T	A	9: 108,583,736	E106V	probably damaging	Het
Pcdhb20	C	T	18: 37,504,807	H129Y	possibly damaging	Het
Pdcd6ip	T	C	9: 113,685,422	E240G	probably benign	Het
Pex5l	T	C	3: 33,014,961		probably null	Het
Plcd1	T	C	9: 119,076,178	N181S	probably damaging	Het
Plekhg6	G	T	6: 125,372,099	L412M	probably damaging	Het
Ppp1r13b	T	A	12: 111,835,092	Q386L	possibly damaging	Het
Prpf40b	A	G	15: 99,310,045		probably benign	Het
Rdh11	C	T	12: 79,186,413		probably null	Het
Ripor3	A	T	2: 167,997,252	S110T	probably damaging	Het
Sec24d	G	A	3: 123,294,158		probably null	Het
Secisbp2l	T	C	2: 125,773,211	S165G	probably benign	Het
Shank1	C	T	7: 44,342,465	A698V	unknown	Het
Shank1	T	C	7: 44,351,599	M914T	unknown	Het
Slc22a3	T	C	17: 12,458,492	Q263R	probably benign	Het
Smc1a	C	A	X: 152,036,129	Q647K	probably damaging	Het
Sohlh1	A	G	2: 25,846,861		probably benign	Het
Tacc2	C	A	7: 130,729,768	T484K	probably damaging	Het
Ubr4	G	T	4: 139,440,783	E2825*	probably null	Het
Wbp2nl	G	A	15: 82,308,605	M163I	probably benign	Het
Zfp69	T	A	4: 120,931,500	K206M	probably damaging	Het
Zswim3	G	A	2: 164,821,520	R640H	probably damaging	Het

Other mutations in Cabp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01090:Cabp5	APN	7	13405487	missense	probably damaging	1.00
IGL02391:Cabp5	APN	7	13398344	nonsense	probably null
IGL02712:Cabp5	APN	7	13403346	missense	probably damaging	1.00
R0565:Cabp5	UTSW	7	13401335	missense	probably damaging	0.99
R1231:Cabp5	UTSW	7	13405425	missense	probably damaging	1.00
R1482:Cabp5	UTSW	7	13398342	nonsense	probably null
R4736:Cabp5	UTSW	7	13400739	splice site	probably null
R6036:Cabp5	UTSW	7	13401335	missense	probably damaging	0.99
R6036:Cabp5	UTSW	7	13401335	missense	probably damaging	0.99
R7162:Cabp5	UTSW	7	13401335	missense	probably damaging	0.99
R7769:Cabp5	UTSW	7	13400733	missense	probably benign	0.00
R7810:Cabp5	UTSW	7	13398338	missense	possibly damaging	0.90
R8012:Cabp5	UTSW	7	13407781	critical splice acceptor site	probably null
R8238:Cabp5	UTSW	7	13405452	missense	probably damaging	1.00

Posted On

2013-12-09