Mutagenetix > Incidental Mutation

Incidental Mutation 'R7388:Rcn1'

573234

Institutional Source

Beutler Lab

Gene Symbol

Rcn1

Ensembl Gene

ENSMUSG00000005973

Gene Name

reticulocalbin 1

Synonyms

Rcn

MMRRC Submission

045470-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7388 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105216636-105229664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 105222336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 217 (V217M)

Ref Sequence

ENSEMBL: ENSMUSP00000006128 (fasta)

Gene Model

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

AlphaFold

Q05186

Predicted Effect

probably damaging
Transcript: ENSMUST00000006128
AA Change: V217M

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000006128
Gene: ENSMUSG00000005973
AA Change: V217M

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

Meta Mutation Damage Score

0.5034

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	T	C	18: 67,556,023 (GRCm39)	E436G	probably damaging	Het
Agbl5	T	A	5: 31,060,583 (GRCm39)	L759*	probably null	Het
Ankrd13b	T	C	11: 77,363,583 (GRCm39)	D460G	probably benign	Het
Apol10a	A	G	15: 77,373,225 (GRCm39)	D287G	possibly damaging	Het
Arhgap44	A	T	11: 64,915,094 (GRCm39)	Y391*	probably null	Het
Asz1	G	T	6: 18,074,900 (GRCm39)	S271R	probably benign	Het
AW554918	A	G	18: 25,473,170 (GRCm39)	N325D	probably benign	Het
Brinp2	A	T	1: 158,082,579 (GRCm39)	L247Q	probably damaging	Het
Casz1	A	G	4: 149,036,850 (GRCm39)	D1704G	unknown	Het
Cdk5rap1	G	A	2: 154,202,595 (GRCm39)	R212W	probably damaging	Het
Cdkl2	T	A	5: 92,167,318 (GRCm39)	T444S	probably benign	Het
Cers2	T	G	3: 95,228,656 (GRCm39)	F160V	probably benign	Het
Cfap276	T	C	3: 108,450,815 (GRCm39)	F86L	possibly damaging	Het
Cga	T	A	4: 34,907,076 (GRCm39)	M99K	probably benign	Het
Cspp1	C	T	1: 10,135,572 (GRCm39)	R138*	probably null	Het
Dao	T	G	5: 114,153,273 (GRCm39)	*133E	probably null	Het
Ddx1	A	T	12: 13,275,456 (GRCm39)	C544S	probably null	Het
Dgkq	A	T	5: 108,806,112 (GRCm39)	V98E	probably damaging	Het
Dnah6	T	A	6: 73,169,300 (GRCm39)	T434S	possibly damaging	Het
Dntt	A	G	19: 41,027,418 (GRCm39)	N162D	probably benign	Het
Dpysl5	T	C	5: 30,902,805 (GRCm39)	V79A	probably benign	Het
Efcab3	T	C	11: 104,611,871 (GRCm39)	L571P	probably damaging	Het
Ep300	T	C	15: 81,532,567 (GRCm39)	C1602R	unknown	Het
Flrt3	C	T	2: 140,503,672 (GRCm39)		probably null	Het
Gk2	A	G	5: 97,604,757 (GRCm39)	V27A	probably damaging	Het
Gnpat	T	G	8: 125,614,553 (GRCm39)	M663R	probably benign	Het
Hc	A	T	2: 34,874,859 (GRCm39)		probably null	Het
Il12rb1	A	G	8: 71,263,271 (GRCm39)	Y67C	probably damaging	Het
Ints15	G	A	5: 143,297,600 (GRCm39)	A149V	probably benign	Het
Kmt2b	C	T	7: 30,281,385 (GRCm39)	D1229N	probably damaging	Het
Lamc1	T	C	1: 153,124,822 (GRCm39)	T650A	probably damaging	Het
Lrp1	G	A	10: 127,419,766 (GRCm39)	R948*	probably null	Het
Map3k21	T	C	8: 126,654,336 (GRCm39)	I385T	probably damaging	Het
Mmrn1	T	A	6: 60,953,236 (GRCm39)	S506T	probably benign	Het
Nlrp1a	A	G	11: 71,014,023 (GRCm39)	F409S	probably damaging	Het
Nlrp3	T	A	11: 59,455,892 (GRCm39)	I896N	probably benign	Het
Noxred1	C	A	12: 87,273,799 (GRCm39)	V81L	probably damaging	Het
Nrcam	A	T	12: 44,645,272 (GRCm39)	I1225F	probably damaging	Het
Or2z2	C	T	11: 58,346,481 (GRCm39)	C98Y	probably damaging	Het
Otos	T	A	1: 92,572,241 (GRCm39)		probably null	Het
Pcdh20	A	G	14: 88,706,103 (GRCm39)	I399T	probably benign	Het
Pkhd1	C	T	1: 20,309,528 (GRCm39)	V2807I	not run	Het
Prrx2	A	G	2: 30,770,902 (GRCm39)	E235G	probably damaging	Het
Rab13	T	C	3: 90,128,327 (GRCm39)	I41T	probably damaging	Het
Rai1	A	C	11: 60,080,201 (GRCm39)	T1422P	possibly damaging	Het
Scn2a	T	A	2: 65,518,998 (GRCm39)	V408E	probably damaging	Het
Sec16a	C	T	2: 26,318,376 (GRCm39)	A121T		Het
Slc35d1	A	G	4: 103,046,982 (GRCm39)		probably null	Het
Slc39a6	A	T	18: 24,717,106 (GRCm39)	V642E	probably damaging	Het
Slc6a19	G	A	13: 73,841,203 (GRCm39)	A69V	probably benign	Het
Spink6	A	T	18: 44,215,386 (GRCm39)	T79S	probably damaging	Het
Spire1	T	C	18: 67,652,950 (GRCm39)	D170G	probably damaging	Het
Sugp1	T	C	8: 70,505,269 (GRCm39)	S79P	probably damaging	Het
Syne3	A	G	12: 104,934,167 (GRCm39)	Y201H	probably damaging	Het
Tbc1d10a	T	C	11: 4,155,858 (GRCm39)		probably null	Het
Tmem14a	C	T	1: 21,299,735 (GRCm39)	Q122*	probably null	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Trmt61a	A	G	12: 111,645,321 (GRCm39)	I86V	possibly damaging	Het
Tubgcp4	G	A	2: 121,020,447 (GRCm39)		probably null	Het
Vmn1r79	T	A	7: 11,910,668 (GRCm39)	Y183*	probably null	Het
Vmn2r11	A	T	5: 109,202,742 (GRCm39)	W112R	probably benign	Het
Vpreb1a	T	C	16: 16,686,516 (GRCm39)	K125E	probably benign	Het
Wdr6	A	T	9: 108,451,971 (GRCm39)	F637L	probably damaging	Het

Other mutations in Rcn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00975:Rcn1	APN	2	105,225,174 (GRCm39)	missense	possibly damaging	0.83
IGL02347:Rcn1	APN	2	105,229,471 (GRCm39)	missense	probably benign	0.17
californianus	UTSW	2	105,219,320 (GRCm39)	critical splice donor site	probably null
gymnogyps	UTSW	2	105,219,518 (GRCm39)	missense	probably benign	0.06
P0031:Rcn1	UTSW	2	105,219,414 (GRCm39)	nonsense	probably null
R0107:Rcn1	UTSW	2	105,225,126 (GRCm39)	missense	possibly damaging	0.79
R1510:Rcn1	UTSW	2	105,219,434 (GRCm39)	missense	probably damaging	1.00
R1699:Rcn1	UTSW	2	105,229,350 (GRCm39)	missense	probably damaging	1.00
R4027:Rcn1	UTSW	2	105,229,395 (GRCm39)	nonsense	probably null
R4028:Rcn1	UTSW	2	105,229,395 (GRCm39)	nonsense	probably null
R4029:Rcn1	UTSW	2	105,229,395 (GRCm39)	nonsense	probably null
R4923:Rcn1	UTSW	2	105,219,518 (GRCm39)	missense	probably benign	0.06
R4956:Rcn1	UTSW	2	105,225,121 (GRCm39)	nonsense	probably null
R5079:Rcn1	UTSW	2	105,229,402 (GRCm39)	missense	probably damaging	0.96
R5333:Rcn1	UTSW	2	105,219,471 (GRCm39)	missense	probably benign	0.00
R5709:Rcn1	UTSW	2	105,225,128 (GRCm39)	missense	probably damaging	1.00
R6160:Rcn1	UTSW	2	105,222,362 (GRCm39)	missense	probably damaging	1.00
R6525:Rcn1	UTSW	2	105,219,320 (GRCm39)	critical splice donor site	probably null
R7111:Rcn1	UTSW	2	105,219,359 (GRCm39)	missense	probably damaging	1.00
R7974:Rcn1	UTSW	2	105,224,055 (GRCm39)	missense	probably benign	0.32
R8515:Rcn1	UTSW	2	105,219,464 (GRCm39)	missense	probably null	0.97
R9765:Rcn1	UTSW	2	105,225,026 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

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

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

Posted On

2019-09-13