Mutagenetix > Incidental Mutations

Incidental Mutation 'R6160:Rcn1'

489793

Institutional Source

Beutler Lab

Gene Symbol

Rcn1

Ensembl Gene

ENSMUSG00000005973

Gene Name

reticulocalbin 1

Synonyms

Rcn

MMRRC Submission

044307-MU

Accession Numbers

Ncbi RefSeq: NM_009037.2; MGI:104559

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6160 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105386291-105399319 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105392017 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 208 (D208G)

Ref Sequence

ENSEMBL: ENSMUSP00000006128 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000006128
AA Change: D208G

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

SMART Domains

Protein: ENSMUSP00000006128
Gene: ENSMUSG00000005973
AA Change: D208G

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

Meta Mutation Damage Score

0.6292

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

94% (62/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	G	A	6: 149,331,507		probably null	Het
4930433I11Rik	T	A	7: 40,993,526	S297R	possibly damaging	Het
5530400C23Rik	A	G	6: 133,294,326	E111G	possibly damaging	Het
8030423J24Rik	T	A	13: 70,883,910	S34T	unknown	Het
Ace3	T	A	11: 105,994,732	W20R	possibly damaging	Het
Adgrf1	A	G	17: 43,310,687	E605G	probably damaging	Het
Arhgap44	G	A	11: 65,162,549		probably benign	Het
Atm	A	C	9: 53,490,959	H1404Q	probably benign	Het
AW209491	A	G	13: 14,636,721	E53G	probably damaging	Het
Cdt1	C	T	8: 122,571,368	T366I	probably benign	Het
Cerk	A	T	15: 86,142,773	C179S	probably benign	Het
Cldn10	T	C	14: 118,861,843	V123A	possibly damaging	Het
Clip1	T	C	5: 123,613,541	K726E	possibly damaging	Het
Dcaf12	A	T	4: 41,294,043	Y365N	probably damaging	Het
Dennd6b	A	G	15: 89,188,821	L171P	probably damaging	Het
Dip2c	G	A	13: 9,533,254	V91I	probably benign	Het
Dlec1	A	G	9: 119,143,319	I1431V	probably benign	Het
Egln1	T	C	8: 124,948,492	D188G	probably damaging	Het
Enpp5	T	A	17: 44,081,368	N229K	possibly damaging	Het
Fmo1	T	G	1: 162,836,298	I221L	probably benign	Het
Fsip2	G	A	2: 82,987,945	W4674*	probably null	Het
Gm12185	G	A	11: 48,908,428	Q413*	probably null	Het
Gm5096	G	A	18: 87,757,121	C256Y	probably damaging	Het
Gm7298	A	T	6: 121,764,927	H436L	probably benign	Het
Gucy2c	G	A	6: 136,740,686	Q430*	probably null	Het
Hgd	A	G	16: 37,613,298	H134R	probably damaging	Het
Hoxd8	A	G	2: 74,705,999	E151G	probably damaging	Het
Il15ra	A	G	2: 11,720,016	D99G	probably damaging	Het
Ints4	T	A	7: 97,509,583		probably null	Het
Itgb1	T	A	8: 128,720,283	F426L	possibly damaging	Het
Itpr1	A	C	6: 108,518,755	I2534L	probably benign	Het
Kcnq4	T	A	4: 120,716,559	H235L	probably damaging	Het
Kcnt1	T	A	2: 25,892,383	I178N	probably damaging	Het
Kidins220	A	G	12: 24,997,311	D252G	probably damaging	Het
Krt23	A	G	11: 99,485,718	I204T	probably damaging	Het
Lipo4	A	G	19: 33,503,293	L225P	probably damaging	Het
Lrp3	T	C	7: 35,204,123	D245G	possibly damaging	Het
Mmp16	A	G	4: 18,051,857	D282G	probably damaging	Het
Myo1c	A	T	11: 75,650,742	H18L	probably benign	Het
Myo1f	C	A	17: 33,604,344	P981Q	probably benign	Het
Nle1	A	T	11: 82,908,157	F33I	probably benign	Het
Nlrp4e	T	G	7: 23,321,306	M406R	probably damaging	Het
Obscn	A	T	11: 59,051,785	V4857E	probably damaging	Het
Palb2	A	T	7: 122,128,420		probably null	Het
Phospho1	A	T	11: 95,830,624	E22V	probably damaging	Het
Pom121l2	C	T	13: 21,983,668	S703L	possibly damaging	Het
Prex2	T	C	1: 10,993,851	L20P	probably damaging	Het
Psmb7	T	C	2: 38,643,381	T45A	probably damaging	Het
R3hdm2	T	C	10: 127,484,507	I532T	probably damaging	Het
Recql5	A	G	11: 115,932,787		probably null	Het
Rfc4	A	T	16: 23,114,683	I242N	probably damaging	Het
Rims1	T	C	1: 22,432,984	Y650C	probably damaging	Het
Shc2	C	T	10: 79,627,019		probably null	Het
Slc14a2	A	T	18: 78,158,975		probably null	Het
Slc6a6	A	T	6: 91,740,014		probably null	Het
Synj2	C	A	17: 6,008,061	H275N	possibly damaging	Het
T	A	T	17: 8,441,786	T410S	probably benign	Het
Tarsl2	A	G	7: 65,682,779	I543V	probably benign	Het
Tbc1d8	T	A	1: 39,372,403	K1117N	probably damaging	Het
Tm7sf3	A	T	6: 146,606,289	L425*	probably null	Het
Trav14-3	A	G	14: 53,763,521	Y63C	probably damaging	Het
Tyro3	A	C	2: 119,803,270	D133A	probably damaging	Het
Vmn1r119	T	G	7: 21,011,815	H214P	possibly damaging	Het
Vmn2r120	G	A	17: 57,509,418	P646S	probably benign	Het
Zbtb7c	A	T	18: 76,145,833	Y454F	probably benign	Het
Zmym2	T	C	14: 56,950,309	L1144P	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
IGL02347:Rcn1	APN	2	105399126	missense	probably benign	0.17
californianus	UTSW	2	105388975	critical splice donor site	probably null
gymnogyps	UTSW	2	105389173	missense	probably benign	0.06
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
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
R7974:Rcn1	UTSW	2	105393710	missense	probably benign	0.32
R8515:Rcn1	UTSW	2	105389119	missense	probably null	0.97

Predicted Primers

PCR Primer
(F):5'- ACTCACTTGGCACCAGTTGG -3'
(R):5'- CTGCTCTTTAAATTGTGGAGAGAGG -3'

Sequencing Primer
(F):5'- ACTTGGCACCAGTTGGACCTATG -3'
(R):5'- CTTTAAATTGTGGAGAGAGGATATGG -3'

Posted On

2017-10-10