Mutagenetix > Incidental Mutation

Incidental Mutation 'R0316:Rcn2'

34200

Institutional Source

Beutler Lab

Gene Symbol

Rcn2

Ensembl Gene

ENSMUSG00000032320

Gene Name

reticulocalbin 2

Synonyms

taipoxin-associated calcium binding protein 49, TCBP-49

MMRRC Submission

038526-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0316 (G1)

Quality Score

172

Status

Not validated

Chromosome

Chromosomal Location

55949129-55966367 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 55949453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 40 (A40S)

Ref Sequence

ENSEMBL: ENSMUSP00000109915 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114276] [ENSMUST00000147842]

AlphaFold

Q8BP92

Predicted Effect

probably benign
Transcript: ENSMUST00000114276
AA Change: A40S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000109915
Gene: ENSMUSG00000032320
AA Change: A40S

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
EFh	68	96	2.5e-2	SMART
EFh	104	132	3.54e1	SMART
EFh	193	221	6.7e-3	SMART
EFh	234	262	7.57e0	SMART
EFh	270	298	7.23e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144869

Predicted Effect

unknown
Transcript: ENSMUST00000147842
AA Change: A40S

SMART Domains

Protein: ENSMUSP00000120953
Gene: ENSMUSG00000032320
AA Change: A40S

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151585

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 96.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene 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. This gene maps to the same region as type 4 Bardet-Biedl syndrome, suggesting a possible causative role for this gene in the disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	A	T	15: 57,888,765 (GRCm39)	F276I	probably damaging	Het
Ado	A	G	10: 67,384,548 (GRCm39)	L19P	possibly damaging	Het
Ago2	T	C	15: 73,002,725 (GRCm39)	H169R	probably damaging	Het
Asic1	G	A	15: 99,569,819 (GRCm39)	A47T	probably benign	Het
Atg16l2	A	T	7: 100,942,603 (GRCm39)	I364N	probably damaging	Het
C130050O18Rik	G	A	5: 139,400,313 (GRCm39)	R122Q	probably damaging	Het
Capn7	T	A	14: 31,069,766 (GRCm39)	C197S	probably benign	Het
Casp16	T	C	17: 23,771,066 (GRCm39)	D113G	probably damaging	Het
Cdh18	T	A	15: 23,366,999 (GRCm39)	V235D	probably damaging	Het
Clca4a	G	T	3: 144,659,525 (GRCm39)	T777K	probably damaging	Het
Col17a1	A	G	19: 47,673,972 (GRCm39)		probably null	Het
Col5a3	C	A	9: 20,686,621 (GRCm39)	D1335Y	unknown	Het
Cpxm1	T	C	2: 130,235,091 (GRCm39)	E576G	probably damaging	Het
Dcbld2	T	C	16: 58,253,808 (GRCm39)	S182P	probably damaging	Het
Dclk1	C	T	3: 55,410,313 (GRCm39)	S616L	probably damaging	Het
Dll4	C	A	2: 119,161,634 (GRCm39)	D405E	probably damaging	Het
Dnah1	G	A	14: 31,000,108 (GRCm39)	R2462C	probably benign	Het
Dnah3	A	T	7: 119,564,882 (GRCm39)	Y2594N	possibly damaging	Het
Ess2	G	A	16: 17,727,958 (GRCm39)	P103S	probably benign	Het
Fam110a	C	A	2: 151,812,006 (GRCm39)	A255S	probably benign	Het
Fbn2	G	A	18: 58,246,397 (GRCm39)	R502W	probably damaging	Het
Fgl2	A	G	5: 21,580,521 (GRCm39)	S288G	possibly damaging	Het
Gm1527	T	C	3: 28,969,923 (GRCm39)	S342P	probably damaging	Het
Gm19668	A	T	10: 77,634,564 (GRCm39)		probably benign	Het
Gm5901	A	T	7: 105,026,522 (GRCm39)	T97S	probably damaging	Het
Greb1l	A	G	18: 10,547,420 (GRCm39)	Y1546C	probably damaging	Het
Impg1	A	T	9: 80,249,347 (GRCm39)	S619T	probably damaging	Het
Itih2	C	A	2: 10,110,057 (GRCm39)	Q565H	possibly damaging	Het
Kbtbd6	T	A	14: 79,690,464 (GRCm39)	N386K	probably benign	Het
Lama3	T	C	18: 12,652,934 (GRCm39)	M218T	probably benign	Het
Lipg	T	C	18: 75,094,012 (GRCm39)	S12G	probably benign	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Mex3d	G	T	10: 80,217,505 (GRCm39)	P571T	probably damaging	Het
Neb	A	C	2: 52,085,482 (GRCm39)	Y1538D	possibly damaging	Het
Nsd1	T	C	13: 55,361,584 (GRCm39)	I184T	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5b99	T	A	19: 12,976,766 (GRCm39)	C139S	probably damaging	Het
Or5w18	T	C	2: 87,633,525 (GRCm39)	F264S	probably damaging	Het
Pacs1	T	C	19: 5,185,149 (GRCm39)		silent	Het
Pdcd11	T	C	19: 47,101,611 (GRCm39)	V932A	probably damaging	Het
Pkd2	A	G	5: 104,625,032 (GRCm39)	D276G	probably damaging	Het
Pkia	T	A	3: 7,502,499 (GRCm39)	D25E	probably damaging	Het
Plxna2	A	C	1: 194,326,458 (GRCm39)	S131R	probably damaging	Het
Prelid1	T	C	13: 55,472,220 (GRCm39)	V132A	possibly damaging	Het
Psma3	T	C	12: 71,030,163 (GRCm39)	Y59H	probably benign	Het
Ptchd3	A	C	11: 121,732,916 (GRCm39)	E602A	possibly damaging	Het
Ptpro	T	C	6: 137,353,987 (GRCm39)	V121A	possibly damaging	Het
Ptprt	A	G	2: 161,449,239 (GRCm39)	L878P	probably damaging	Het
Pxn	G	A	5: 115,692,027 (GRCm39)	G370S	probably damaging	Het
Rnf215	A	G	11: 4,089,760 (GRCm39)	N258D	probably damaging	Het
Rnpc3	T	C	3: 113,423,622 (GRCm39)	T28A	probably damaging	Het
Rtel1	T	A	2: 180,997,795 (GRCm39)	V1100E	possibly damaging	Het
Scn3a	T	A	2: 65,291,173 (GRCm39)	I1858F	probably damaging	Het
Slc9c1	G	A	16: 45,400,595 (GRCm39)	R735Q	possibly damaging	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Spata13	A	G	14: 60,929,788 (GRCm39)	T449A	probably benign	Het
Svep1	A	G	4: 58,072,737 (GRCm39)	W2191R	probably damaging	Het
Thbs1	G	A	2: 117,948,055 (GRCm39)	R405H	probably damaging	Het
Tnn	A	G	1: 159,948,137 (GRCm39)	Y859H	possibly damaging	Het
Tonsl	A	G	15: 76,513,500 (GRCm39)	S1245P	possibly damaging	Het
Tpcn1	G	A	5: 120,677,324 (GRCm39)	T661M	probably damaging	Het
Trap1	A	G	16: 3,863,424 (GRCm39)	F533L	probably benign	Het
Ttc23	T	C	7: 67,328,821 (GRCm39)		probably null	Het
Vax2	T	C	6: 83,688,426 (GRCm39)	S50P	possibly damaging	Het
Vmn1r5	A	C	6: 56,962,784 (GRCm39)	E153A	probably benign	Het
Vmn2r14	G	T	5: 109,366,762 (GRCm39)	P486Q	probably benign	Het
Vmn2r96	T	A	17: 18,802,827 (GRCm39)	F246I	probably damaging	Het
Zc3h10	C	A	10: 128,380,624 (GRCm39)	E244D	probably damaging	Het
Zdhhc18	T	A	4: 133,340,966 (GRCm39)	K265*	probably null	Het

Other mutations in Rcn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0616:Rcn2	UTSW	9	55,963,534 (GRCm39)	missense	probably benign	0.45
R0649:Rcn2	UTSW	9	55,965,419 (GRCm39)	missense	probably damaging	1.00
R1472:Rcn2	UTSW	9	55,963,537 (GRCm39)	missense	probably benign	0.13
R4206:Rcn2	UTSW	9	55,952,491 (GRCm39)	missense	possibly damaging	0.51
R4567:Rcn2	UTSW	9	55,960,266 (GRCm39)	missense	probably benign	0.09
R5032:Rcn2	UTSW	9	55,960,300 (GRCm39)	missense	probably damaging	1.00
R5579:Rcn2	UTSW	9	55,964,713 (GRCm39)	missense	probably benign	0.03
R6298:Rcn2	UTSW	9	55,960,209 (GRCm39)	missense	probably benign	0.13
R6974:Rcn2	UTSW	9	55,960,298 (GRCm39)	nonsense	probably null
R6996:Rcn2	UTSW	9	55,964,845 (GRCm39)	nonsense	probably null
R7229:Rcn2	UTSW	9	55,964,763 (GRCm39)	missense	probably benign	0.05
R7437:Rcn2	UTSW	9	55,965,353 (GRCm39)	missense	probably damaging	1.00
R7828:Rcn2	UTSW	9	55,960,266 (GRCm39)	missense	probably benign	0.09
R8469:Rcn2	UTSW	9	55,952,485 (GRCm39)	missense	probably benign	0.00
R9079:Rcn2	UTSW	9	55,952,393 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- GACCCAATCAGCAACAGGTATAGCG -3'
(R):5'- TTGCCCCAGTGGTTTCAGGATGAC -3'

Sequencing Primer
(F):5'- TCAGCAACGCAGTAGTCG -3'
(R):5'- TGGTTTCAGGATGACCCACAC -3'

Posted On

2013-05-09