Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02347:Rcn1'

289336

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rcn1

Ensembl Gene

ENSMUSG00000005973

Gene Name

reticulocalbin 1

Synonyms

Rcn

Accession Numbers

Ncbi RefSeq: NM_009037.2; MGI:104559

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02347

Quality Score

Status

Chromosome

Chromosomal Location

105386291-105399319 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105399126 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 27 (V27E)

Ref Sequence

ENSEMBL: ENSMUSP00000006128 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006128]

Predicted Effect

probably benign
Transcript: ENSMUST00000006128
AA Change: V27E

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000006128
Gene: ENSMUSG00000005973
AA Change: V27E

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
EFh	77	105	1.45e0	SMART
EFh	113	141	6.56e0	SMART
Blast:EFh	164	192	3e-9	BLAST
EFh	201	229	4.35e-2	SMART
Pfam:EF-hand_5	244	267	1.6e-4	PFAM
Blast:EFh	278	306	2e-9	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127019

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Reticulocalbin 1 is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. High conservation of amino acid residues outside of these motifs, in comparison to mouse reticulocalbin, is consistent with a possible biochemical function besides that of calcium binding. In human endothelial and prostate cancer cell lines this protein localizes to the plasma membrane.[provided by RefSeq, Jan 2009]

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	A	T	6: 96,165,530	Y178N	probably damaging	Het
9830107B12Rik	T	A	17: 48,145,664	K35*	probably null	Het
Adad2	G	T	8: 119,616,669	G546V	probably damaging	Het
Bccip	A	G	7: 133,709,376	K7E	probably benign	Het
C8b	G	A	4: 104,786,954	E273K	probably benign	Het
Car12	T	A	9: 66,764,347	V352D	possibly damaging	Het
Cyp2d11	G	A	15: 82,390,480	R299C	probably benign	Het
Dnah10	A	C	5: 124,833,423		probably null	Het
Egf	A	T	3: 129,678,377	N1199K	probably benign	Het
Ehbp1l1	A	G	19: 5,719,572	W568R	possibly damaging	Het
Emc3	A	G	6: 113,520,572	M106T	possibly damaging	Het
Epp13	A	G	7: 6,269,884	I79M	possibly damaging	Het
Fam13b	T	C	18: 34,454,704	K514E	probably damaging	Het
Fhdc1	G	A	3: 84,444,735	A1061V	possibly damaging	Het
Frg2f1	A	C	4: 119,530,732	L190R	probably damaging	Het
Frmpd1	A	G	4: 45,270,023		probably null	Het
Glis3	A	G	19: 28,531,883	F234L	probably benign	Het
Gm2035	T	C	12: 87,919,589	D90G	probably damaging	Het
Grap2	T	C	15: 80,646,356		probably benign	Het
H2-M10.2	T	A	17: 36,285,613	E113D	probably benign	Het
Itgb6	T	C	2: 60,611,412	T685A	probably benign	Het
Mrpl19	A	T	6: 81,962,011	M270K	probably damaging	Het
Msantd4	G	T	9: 4,384,734		probably benign	Het
Msr1	G	T	8: 39,632,737	T34K	probably damaging	Het
Npc1	C	T	18: 12,199,634	V780M	probably benign	Het
Nsun6	A	G	2: 15,030,020		probably benign	Het
Nt5c2	A	G	19: 46,924,256		probably benign	Het
Nucb2	A	C	7: 116,535,878	Q340P	probably benign	Het
Olfr168	A	G	16: 19,530,779	L47P	probably damaging	Het
Olfr401	C	T	11: 74,121,571	T94I	probably benign	Het
Osgin1	A	G	8: 119,445,538	E357G	probably benign	Het
Pabpc6	C	T	17: 9,669,064	R186K	probably benign	Het
Pex1	A	G	5: 3,603,350	K83R	probably damaging	Het
Ppid	A	G	3: 79,595,219	I82V	probably benign	Het
Pygl	C	T	12: 70,201,892	G318S	probably benign	Het
Rnaseh1	A	T	12: 28,657,630		probably benign	Het
Rnf148	A	G	6: 23,654,730	V89A	probably benign	Het
Siglecf	G	A	7: 43,351,721	V38I	possibly damaging	Het
Slc13a5	T	C	11: 72,258,954		probably null	Het
Slc26a4	C	T	12: 31,528,854		probably benign	Het
Sos2	A	T	12: 69,596,746	D953E	probably benign	Het
Strbp	A	C	2: 37,645,648	V16G	probably benign	Het
Sycp1	A	T	3: 102,893,547	M567K	probably benign	Het
Tedc2	A	C	17: 24,220,610	V19G	probably damaging	Het
Tjp1	A	G	7: 65,301,064		probably null	Het
Ttn	A	T	2: 76,709,220	V26147E	probably damaging	Het
Vmn1r86	A	G	7: 13,102,647	S51P	probably damaging	Het
Vmn2r83	A	G	10: 79,480,233	T488A	possibly damaging	Het
Zfp541	A	G	7: 16,083,465	Y945C	probably damaging	Het

Other mutations in Rcn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00975:Rcn1	APN	2	105394829	missense	possibly damaging	0.83
P0031:Rcn1	UTSW	2	105389069	nonsense	probably null
R0107:Rcn1	UTSW	2	105394781	missense	possibly damaging	0.79
R1510:Rcn1	UTSW	2	105389089	missense	probably damaging	1.00
R1699:Rcn1	UTSW	2	105399005	missense	probably damaging	1.00
R4027:Rcn1	UTSW	2	105399050	nonsense	probably null
R4028:Rcn1	UTSW	2	105399050	nonsense	probably null
R4029:Rcn1	UTSW	2	105399050	nonsense	probably null
R4923:Rcn1	UTSW	2	105389173	missense	probably benign	0.06
R4956:Rcn1	UTSW	2	105394776	nonsense	probably null
R5079:Rcn1	UTSW	2	105399057	missense	probably damaging	0.96
R5333:Rcn1	UTSW	2	105389126	missense	probably benign	0.00
R5709:Rcn1	UTSW	2	105394783	missense	probably damaging	1.00
R6160:Rcn1	UTSW	2	105392017	missense	probably damaging	1.00
R6525:Rcn1	UTSW	2	105388975	critical splice donor site	probably null
R7111:Rcn1	UTSW	2	105389014	missense	probably damaging	1.00
R7388:Rcn1	UTSW	2	105391991	missense	probably damaging	0.98

Posted On

2015-04-16