Mutagenetix > Incidental Mutations

Incidental Mutation 'R4402:Rcan2'

326704

Institutional Source

Beutler Lab

Gene Symbol

Rcan2

Ensembl Gene

ENSMUSG00000039601

Gene Name

regulator of calcineurin 2

Synonyms

Csp2, ZAKI-4, MCIP2, Dscr1l1

MMRRC Submission

042003-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R4402 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43801351-44039516 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43953470 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 7 (D7G)

Ref Sequence

ENSEMBL: ENSMUSP00000155555 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044792] [ENSMUST00000044895] [ENSMUST00000177857] [ENSMUST00000228972] [ENSMUST00000229240] [ENSMUST00000229744]

Predicted Effect

probably benign
Transcript: ENSMUST00000044792
AA Change: D7G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000048013
Gene: ENSMUSG00000039601
AA Change: D7G

Domain	Start	End	E-Value	Type
Pfam:Calcipressin	20	191	2.1e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000044895

SMART Domains

Protein: ENSMUSP00000039473
Gene: ENSMUSG00000039601

Domain	Start	End	E-Value	Type
Pfam:Calcipressin	66	237	1.3e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177857
AA Change: D7G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000137211
Gene: ENSMUSG00000039601
AA Change: D7G

Domain	Start	End	E-Value	Type
Pfam:Calcipressin	20	191	2.1e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000228972

Predicted Effect

probably benign
Transcript: ENSMUST00000229240
AA Change: D7G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000229744

Meta Mutation Damage Score

0.0973

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the regulator of calcineurin (RCAN) protein family. These proteins play a role in many physiological processes by binding to the catalytic domain of calcineurin A, inhibiting calcineurin-mediated nuclear translocation of the transcription factor NFATC1. Expression of this gene in skin fibroblasts is upregulated by thyroid hormone, and the encoded protein may also play a role in endothelial cell function and angiogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out alle exhibit decreased body weight and resistance to diet-induced obesity, steatosis, glucose intolerance, and insulin sensitivity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	A	11: 58,880,194	H167Q	probably benign	Het
Adamts20	T	C	15: 94,379,946	T212A	probably benign	Het
Ap3b1	C	A	13: 94,418,099	L248I	probably damaging	Het
Atl1	T	G	12: 69,959,199	D426E	probably benign	Het
Cage1	T	A	13: 38,023,102	I256F	probably damaging	Het
Calcr	A	T	6: 3,708,484		probably null	Het
Canx	T	C	11: 50,304,438	T268A	probably benign	Het
Chd7	A	T	4: 8,866,353	M842L	possibly damaging	Het
Clca4a	T	C	3: 144,952,848	T787A	probably benign	Het
Clstn3	T	C	6: 124,456,980	Y407C	probably damaging	Het
Copa	C	A	1: 172,102,224	T286N	probably damaging	Het
Cyb5a	G	A	18: 84,871,593	R49Q	possibly damaging	Het
Def6	A	G	17: 28,219,976	K219E	probably damaging	Het
Eif4g1	G	T	16: 20,678,843		probably benign	Het
Eif5	A	T	12: 111,541,749	K161N	probably benign	Het
Fras1	C	A	5: 96,642,620	T951K	probably damaging	Het
Gen1	A	T	12: 11,242,362	N475K	possibly damaging	Het
Gm14569	T	C	X: 36,433,493	Y521C	probably benign	Het
Gm6124	T	A	7: 39,221,105		noncoding transcript	Het
Gpt2	A	T	8: 85,525,559	D501V	probably benign	Het
Gstm2	T	C	3: 107,986,054	K31R	probably benign	Het
Homer3	G	A	8: 70,290,143		probably null	Het
Itga1	T	A	13: 115,001,566	M428L	probably benign	Het
Kalrn	C	T	16: 33,989,810	D2525N	possibly damaging	Het
Kcnn4	T	C	7: 24,377,442	W139R	probably benign	Het
Kdm7a	T	A	6: 39,166,668	R380W	probably null	Het
Khdrbs1	T	G	4: 129,742,096	D22A	possibly damaging	Het
Liph	A	T	16: 21,976,250	I204N	probably damaging	Het
Loxhd1	A	G	18: 77,441,760	E2033G	possibly damaging	Het
M6pr	C	T	6: 122,315,023		probably benign	Het
Mrm1	A	G	11: 84,819,089	I95T	probably damaging	Het
Mroh2a	G	T	1: 88,254,935	R1195L	possibly damaging	Het
Mug1	C	A	6: 121,879,352	F1030L	probably damaging	Het
Naca	C	T	10: 128,043,472		probably benign	Het
Nob1	A	T	8: 107,418,488		probably benign	Het
Nutm1	A	C	2: 112,249,809	I587R	probably damaging	Het
Olfr385	A	G	11: 73,589,255	V161A	probably benign	Het
Pcdhb2	A	G	18: 37,295,402	K143E	probably benign	Het
Pcnt	T	C	10: 76,392,393	Q1646R	probably benign	Het
Piwil2	A	T	14: 70,408,916	D390E	probably benign	Het
Pkhd1	A	G	1: 20,239,411	L2771P	probably damaging	Het
Pla2g1b	T	A	5: 115,470,888	Y47*	probably null	Het
Plekhn1	T	C	4: 156,225,356	T135A	probably damaging	Het
Pola1	T	C	X: 93,561,423	Y968C	probably damaging	Het
Ppp1r26	C	A	2: 28,451,606	T416K	probably benign	Het
Psmd1	A	G	1: 86,075,951	I153V	possibly damaging	Het
Rexo5	T	C	7: 119,834,376	I326T	possibly damaging	Het
Rps6kc1	A	G	1: 190,798,605		probably benign	Het
Shc1	T	C	3: 89,426,678	S273P	probably benign	Het
Slc9b2	T	C	3: 135,336,544	V528A	probably benign	Het
Tas2r118	T	C	6: 23,969,294	K256R	probably benign	Het
Tma16	C	T	8: 66,484,171		probably null	Het
Tnfaip2	T	C	12: 111,449,851	F516L	probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984		probably benign	Het
Ugt1a10	C	T	1: 88,215,123	P113L	probably damaging	Het
Wdr35	A	G	12: 8,989,981	D362G	probably damaging	Het
Wwp2	T	C	8: 107,457,978	V106A	probably benign	Het
Zfp40	T	A	17: 23,176,719	H230L	possibly damaging	Het
Zkscan17	T	A	11: 59,503,022	M1L	possibly damaging	Het

Other mutations in Rcan2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Rcan2	APN	17	44037069	missense	possibly damaging	0.61
IGL00430:Rcan2	APN	17	43836384	missense	probably benign	0.08
IGL00958:Rcan2	APN	17	44037017	missense	probably damaging	1.00
IGL01121:Rcan2	APN	17	44017884	missense	probably damaging	0.99
IGL01397:Rcan2	APN	17	43836468	missense	possibly damaging	0.56
IGL01897:Rcan2	APN	17	43836434	missense	probably damaging	0.99
R1510:Rcan2	UTSW	17	43836424	missense	probably damaging	1.00
R1803:Rcan2	UTSW	17	44037033	missense	probably damaging	1.00
R1862:Rcan2	UTSW	17	44037089	splice site	probably null
R3841:Rcan2	UTSW	17	44036979	missense	probably benign	0.25
R4241:Rcan2	UTSW	17	43953479	missense	probably benign	0.03
R4955:Rcan2	UTSW	17	44037081	missense	probably damaging	1.00
R5014:Rcan2	UTSW	17	44017813	missense	probably damaging	1.00
R5470:Rcan2	UTSW	17	43836283	missense	probably benign	0.02
R5555:Rcan2	UTSW	17	44037030	missense	probably damaging	1.00
R6393:Rcan2	UTSW	17	43953479	missense	probably benign	0.03
R6478:Rcan2	UTSW	17	43836334	missense	probably benign
R7007:Rcan2	UTSW	17	43836325	missense	probably benign
R7307:Rcan2	UTSW	17	44021102	nonsense	probably null
R7602:Rcan2	UTSW	17	44017798	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCGGCCTCTGTGATGATGTC -3'
(R):5'- TGCCTTCGTGGTACAAACAG -3'

Sequencing Primer
(F):5'- AGAGAGCCGGGTCCTTCTTTAC -3'
(R):5'- CTTCGTGGTACAAACAGTAAAACTGC -3'

Posted On

2015-07-07