Mutagenetix > Incidental Mutation

Incidental Mutation 'R6104:Rcn3'

485423

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

044254-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6104 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44732337-44741645 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44740947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 54 (Y54H)

Ref Sequence

ENSEMBL: ENSMUSP00000147532 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003512] [ENSMUST00000019683] [ENSMUST00000209761] [ENSMUST00000210469] [ENSMUST00000210527] [ENSMUST00000210734] [ENSMUST00000211352] [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: Y54H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000019683
Gene: ENSMUSG00000019539
AA Change: Y54H

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 benign
Transcript: ENSMUST00000209761

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209808

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210355

Predicted Effect

probably damaging
Transcript: ENSMUST00000210469
AA Change: Y54H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210527
AA Change: Y54H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000210734
AA Change: Y54H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211352
AA Change: Y54H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000210642

Predicted Effect

probably benign
Transcript: ENSMUST00000211760

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211668

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	A	T	4: 106,613,094 (GRCm39)	L327Q	probably damaging	Het
Atrip	C	T	9: 108,894,632 (GRCm39)	A432T	possibly damaging	Het
Chd6	T	C	2: 160,856,052 (GRCm39)	T736A	probably damaging	Het
Cyp1b1	T	A	17: 80,017,634 (GRCm39)	Y507F	probably damaging	Het
Desi2	G	A	1: 178,077,018 (GRCm39)	R174H	probably benign	Het
Dop1a	A	T	9: 86,402,860 (GRCm39)	K1351N	possibly damaging	Het
Fads2b	T	A	2: 85,338,693 (GRCm39)	K149*	probably null	Het
Fbxo6	A	T	4: 148,233,979 (GRCm39)	I39N	probably damaging	Het
Fzd2	T	C	11: 102,497,161 (GRCm39)	I535T	probably damaging	Het
Gpr15	A	G	16: 58,538,339 (GRCm39)	F250S	probably damaging	Het
Grm6	T	A	11: 50,750,144 (GRCm39)	I466N	possibly damaging	Het
Il17a	A	G	1: 20,802,498 (GRCm39)	Y69C	probably damaging	Het
Itgam	A	G	7: 127,715,474 (GRCm39)	D938G	possibly damaging	Het
Kmt2c	T	C	5: 25,504,127 (GRCm39)	D316G	probably benign	Het
Lrba	C	A	3: 86,261,099 (GRCm39)	A1485E	probably damaging	Het
Marf1	G	A	16: 13,935,319 (GRCm39)	T1483I	probably damaging	Het
Myo18b	T	C	5: 113,022,157 (GRCm39)		probably benign	Het
Myo5b	T	A	18: 74,833,750 (GRCm39)	I842N	probably benign	Het
Nckap5l	C	T	15: 99,321,869 (GRCm39)	S1092N	probably benign	Het
Nelfcd	T	C	2: 174,265,250 (GRCm39)	S273P	probably damaging	Het
Nt5c1b	A	G	12: 10,422,955 (GRCm39)	N83D	probably damaging	Het
Oas3	T	A	5: 120,899,758 (GRCm39)	I709F	unknown	Het
Or1p1	C	A	11: 74,180,192 (GRCm39)	T240N	probably damaging	Het
Or8i2	T	C	2: 86,852,057 (GRCm39)	Y277C	probably damaging	Het
Pogz	A	G	3: 94,787,342 (GRCm39)	D1310G	probably benign	Het
Ppfia1	A	G	7: 144,045,311 (GRCm39)	S949P	possibly damaging	Het
Pxylp1	A	C	9: 96,706,800 (GRCm39)	F461V	possibly damaging	Het
Rnpepl1	A	G	1: 92,843,606 (GRCm39)	H242R	probably benign	Het
Rps6ka5	A	T	12: 100,519,407 (GRCm39)	D735E	possibly damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Ryr2	G	A	13: 11,814,711 (GRCm39)	T687M	probably damaging	Het
Scn11a	A	G	9: 119,624,744 (GRCm39)	I526T	probably damaging	Het
Slc29a3	A	G	10: 60,556,781 (GRCm39)	V211A	possibly damaging	Het
Syt10	A	T	15: 89,711,067 (GRCm39)	H155Q	probably benign	Het
Taar8b	A	T	10: 23,968,135 (GRCm39)	S20T	probably damaging	Het
Tenm4	A	T	7: 96,486,496 (GRCm39)	I988F	probably damaging	Het
Thoc2l	T	A	5: 104,666,084 (GRCm39)	I202K	probably damaging	Het
Tlr3	A	G	8: 45,856,130 (GRCm39)	S17P	probably benign	Het
Tmem87a	A	G	2: 120,224,905 (GRCm39)	S119P	probably benign	Het
Topaz1	A	G	9: 122,578,931 (GRCm39)	T614A	probably benign	Het
Vmn2r80	A	C	10: 78,984,854 (GRCm39)	N69H	probably benign	Het
Xylb	T	A	9: 119,193,573 (GRCm39)	*66R	probably null	Het
Ylpm1	G	A	12: 85,076,404 (GRCm39)	R1043H	probably benign	Het
Ythdf3	G	A	3: 16,259,325 (GRCm39)	V491I	possibly damaging	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
R4634:Rcn3	UTSW	7	44,738,092 (GRCm39)	missense	probably damaging	1.00
R5268:Rcn3	UTSW	7	44,736,203 (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'- ACAGCCTCAGGTTTAGCTCC -3'
(R):5'- ACATTATCTCTGGTTCAGACACCC -3'

Sequencing Primer
(F):5'- TCCGCCTTCTCCCAGGAG -3'
(R):5'- AGTCTTATCCCTGACCGCTGG -3'

Posted On

2017-08-16