Mutagenetix > Incidental Mutation

Incidental Mutation 'R4634:Rcn3'

349404

Institutional Source

Beutler Lab

Gene Symbol

Rcn3

Ensembl Gene

ENSMUSG00000019539

Gene Name

reticulocalbin 3, EF-hand calcium binding domain

Synonyms

RLP49, D530026G20Rik, 6030455P07Rik, D7Ertd671e

MMRRC Submission

042009-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4634 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44732337-44741645 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44738092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 92 (D92V)

Ref Sequence

ENSEMBL: ENSMUSP00000147341 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003512] [ENSMUST00000019683] [ENSMUST00000209761] [ENSMUST00000211352] [ENSMUST00000210734] [ENSMUST00000210469] [ENSMUST00000210527] [ENSMUST00000210642]

AlphaFold

Q8BH97

Predicted Effect

probably benign
Transcript: ENSMUST00000003512

SMART Domains

Protein: ENSMUSP00000003512
Gene: ENSMUSG00000003420

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	24	197	1.2e-59	PFAM
IGc1	216	285	2.42e-11	SMART
transmembrane domain	300	322	N/A	INTRINSIC
low complexity region	333	351	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000019683
AA Change: D92V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000019683
Gene: ENSMUSG00000019539
AA Change: D92V

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Blast:EFh	79	109	9e-9	BLAST
EFh	117	145	1.23e1	SMART
Blast:EFh	167	195	1e-7	BLAST
EFh	204	232	1.62e0	SMART
Blast:EFh	244	272	7e-6	BLAST
EFh	281	309	1.64e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000117546
AA Change: D92V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112739
Gene: ENSMUSG00000019539
AA Change: D92V

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Blast:EFh	79	109	9e-9	BLAST
EFh	117	145	1.23e1	SMART
Blast:EFh	167	195	1e-7	BLAST
EFh	204	232	1.62e0	SMART
Blast:EFh	244	272	7e-6	BLAST
EFh	281	309	1.64e1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140449
AA Change: D92V

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122851
Gene: ENSMUSG00000019539
AA Change: D92V

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Blast:EFh	79	109	8e-9	BLAST
EFh	117	145	1.23e1	SMART
Blast:EFh	167	195	9e-8	BLAST
EFh	204	232	1.62e0	SMART
Blast:EFh	244	272	6e-6	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000141576
AA Change: D92V

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123379
Gene: ENSMUSG00000019539
AA Change: D92V

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
SCOP:d1auib_	65	115	5e-3	SMART
Blast:EFh	79	109	8e-10	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000148175
AA Change: D92V

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116952
Gene: ENSMUSG00000019539
AA Change: D92V

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Blast:EFh	79	109	8e-9	BLAST
EFh	117	145	1.23e1	SMART
Blast:EFh	167	195	1e-7	BLAST
EFh	204	232	1.62e0	SMART
Blast:EFh	244	272	6e-6	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000209761
AA Change: D16V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211352
AA Change: D92V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210734
AA Change: D92V

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210469
AA Change: D92V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210527
AA Change: D92V

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000211760

Predicted Effect

probably benign
Transcript: ENSMUST00000210642

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210615

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209808

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210355

Meta Mutation Damage Score

0.4480

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	A	G	15: 74,456,278 (GRCm39)		probably benign	Het
Atm	T	C	9: 53,443,033 (GRCm39)	T77A	probably benign	Het
Brd8	T	C	18: 34,741,537 (GRCm39)	M311V	possibly damaging	Het
Cand2	T	A	6: 115,774,948 (GRCm39)	I1052N	probably damaging	Het
Ccdc121	G	A	5: 31,645,435 (GRCm39)	R396Q	probably benign	Het
Ceacam16	T	A	7: 19,592,531 (GRCm39)	M126L	probably benign	Het
Chd3	TGCTGCCGCTGCCGC	TGCTGCCGCTGCCGCTGCCGC	11: 69,253,013 (GRCm39)		probably benign	Het
Cln8	C	T	8: 14,944,842 (GRCm39)	T52I	probably damaging	Het
Cops2	C	A	2: 125,682,400 (GRCm39)	D194Y	probably damaging	Het
Csf1	C	T	3: 107,656,483 (GRCm39)	V71M	probably damaging	Het
Dip2b	T	C	15: 100,058,372 (GRCm39)	F183S	probably damaging	Het
Ears2	T	A	7: 121,643,832 (GRCm39)	K375N	probably benign	Het
Fbn1	C	A	2: 125,185,981 (GRCm39)	G1596C	probably damaging	Het
Fscn2	A	T	11: 120,258,546 (GRCm39)	D390V	possibly damaging	Het
Gm42669	A	T	5: 107,656,079 (GRCm39)	I781F	possibly damaging	Het
Gprin1	G	T	13: 54,885,871 (GRCm39)	P801Q	probably damaging	Het
Hira	C	A	16: 18,765,150 (GRCm39)	S609R	probably damaging	Het
Htt	G	T	5: 35,033,292 (GRCm39)	K1853N	probably benign	Het
Kif2c	T	C	4: 117,035,437 (GRCm39)	I4V	probably benign	Het
Marveld2	A	G	13: 100,748,447 (GRCm39)	Y211H	probably damaging	Het
Myd88	G	A	9: 119,167,175 (GRCm39)		probably null	Het
Nup153	A	T	13: 46,840,706 (GRCm39)	N967K	possibly damaging	Het
Or4a76	A	C	2: 89,460,516 (GRCm39)	I242S	possibly damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Rabepk	A	G	2: 34,670,752 (GRCm39)	M228T	probably damaging	Het
Sec1	T	A	7: 45,328,297 (GRCm39)	Y250F	probably damaging	Het
Slc39a4	T	C	15: 76,498,693 (GRCm39)	T334A	probably benign	Het
Trip11	G	T	12: 101,803,875 (GRCm39)	T1669K	probably damaging	Het
Ttbk2	A	G	2: 120,570,673 (GRCm39)	L1091P	probably damaging	Het
Vmn1r231	A	G	17: 21,110,660 (GRCm39)	V85A	possibly damaging	Het
Zfp280b	T	C	10: 75,874,663 (GRCm39)	C181R	probably benign	Het

Other mutations in Rcn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02113:Rcn3	APN	7	44,732,762 (GRCm39)	missense	probably damaging	1.00
IGL02370:Rcn3	APN	7	44,732,757 (GRCm39)	missense	probably benign
PIT4585001:Rcn3	UTSW	7	44,736,118 (GRCm39)	missense	probably benign	0.41
R0321:Rcn3	UTSW	7	44,738,139 (GRCm39)	unclassified	probably benign
R2270:Rcn3	UTSW	7	44,738,075 (GRCm39)	missense	probably damaging	0.99
R5268:Rcn3	UTSW	7	44,736,203 (GRCm39)	missense	probably damaging	1.00
R6104:Rcn3	UTSW	7	44,740,947 (GRCm39)	missense	probably damaging	1.00
R6228:Rcn3	UTSW	7	44,732,720 (GRCm39)	missense	probably damaging	0.98
R7199:Rcn3	UTSW	7	44,734,333 (GRCm39)	missense	probably damaging	1.00
R7851:Rcn3	UTSW	7	44,736,236 (GRCm39)	missense	probably benign	0.23
R8015:Rcn3	UTSW	7	44,734,331 (GRCm39)	missense	probably damaging	0.97
R8924:Rcn3	UTSW	7	44,733,095 (GRCm39)	missense	probably damaging	1.00
Z1177:Rcn3	UTSW	7	44,733,113 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTCCAGTCAACTTGTCACATAGATTG -3'
(R):5'- TGTCTTATATAGGTACAAGGGTAACTC -3'

Sequencing Primer
(F):5'- GTCACATAGATTGGATTTCAGAAGG -3'
(R):5'- CTCTATATATGACAGGGAGGGGCC -3'

Posted On

2015-10-08