Mutagenetix > Incidental Mutation

Incidental Mutation 'R6478:Rcan2'

516946

Institutional Source

Beutler Lab

Gene Symbol

Rcan2

Ensembl Gene

ENSMUSG00000039601

Gene Name

regulator of calcineurin 2

Synonyms

ZAKI-4, MCIP2, Csp2, Dscr1l1

MMRRC Submission

044610-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R6478 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44112243-44350407 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44147225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 21 (E21G)

Ref Sequence

ENSEMBL: ENSMUSP00000155082 (fasta)

Gene Model

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

AlphaFold

Q9JHG2

Predicted Effect

probably benign
Transcript: ENSMUST00000044895
AA Change: E21G

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

SMART Domains

Protein: ENSMUSP00000039473
Gene: ENSMUSG00000039601
AA Change: E21G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000228972
AA Change: E21G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000229744
AA Change: E21G

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

Meta Mutation Damage Score

0.0698

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.3%

Validation Efficiency

95% (75/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	A	11: 119,901,817 (GRCm39)	S803C	probably benign	Het
Abcc9	C	T	6: 142,625,034 (GRCm39)	A454T	probably damaging	Het
Abr	T	C	11: 76,343,158 (GRCm39)	E565G	probably damaging	Het
Adam33	C	A	2: 130,893,266 (GRCm39)	R753L	probably benign	Het
Adgre1	A	G	17: 57,708,955 (GRCm39)	T49A	possibly damaging	Het
Ankra2	A	T	13: 98,404,950 (GRCm39)	H153L	probably damaging	Het
Ankrd26	T	G	6: 118,488,599 (GRCm39)	E1353D	probably benign	Het
Ankrd52	T	G	10: 128,215,200 (GRCm39)		probably null	Het
Arhgef10l	T	A	4: 140,270,068 (GRCm39)	T619S	possibly damaging	Het
Armh4	A	G	14: 50,010,789 (GRCm39)	V306A	possibly damaging	Het
Asgr1	T	C	11: 69,947,720 (GRCm39)	V130A	possibly damaging	Het
Atg10	C	A	13: 91,085,466 (GRCm39)	C161F	probably damaging	Het
Atm	A	T	9: 53,401,554 (GRCm39)	N1438K	probably damaging	Het
BC107364	T	A	3: 96,343,322 (GRCm39)		probably null	Het
Bcar3	G	T	3: 122,220,225 (GRCm39)	A41S	probably benign	Het
Btbd6	A	G	12: 112,940,932 (GRCm39)		probably benign	Het
Cchcr1	A	G	17: 35,835,600 (GRCm39)	T318A	possibly damaging	Het
Celsr1	A	T	15: 85,809,719 (GRCm39)	I2221N	probably damaging	Het
Cept1	C	T	3: 106,440,761 (GRCm39)	W48*	probably null	Het
Cfap161	T	A	7: 83,442,484 (GRCm39)	I85L	probably benign	Het
Clasp1	A	T	1: 118,439,910 (GRCm39)	R640*	probably null	Het
Col5a1	T	A	2: 27,842,448 (GRCm39)	I441N	unknown	Het
Col9a1	C	A	1: 24,224,486 (GRCm39)	L223I	unknown	Het
Dnah2	T	C	11: 69,406,836 (GRCm39)	D223G	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dpy19l1	A	T	9: 24,361,992 (GRCm39)	M129K	possibly damaging	Het
Ecpas	A	T	4: 58,810,785 (GRCm39)	I1524N	probably damaging	Het
Fcgbpl1	C	G	7: 27,854,798 (GRCm39)	P1808R	probably damaging	Het
Fcrl1	C	A	3: 87,296,946 (GRCm39)	H318Q	probably benign	Het
Fer1l5	A	G	1: 36,441,612 (GRCm39)	N609S	probably damaging	Het
Fkbp4	C	T	6: 128,410,194 (GRCm39)	E256K	probably damaging	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Glrx	G	A	13: 75,995,418 (GRCm39)		probably null	Het
Gm7356	A	T	17: 14,221,726 (GRCm39)	M101K	probably damaging	Het
Gstp2	A	T	19: 4,090,499 (GRCm39)	I162N	probably benign	Het
Hectd3	A	C	4: 116,856,783 (GRCm39)	K443N	probably damaging	Het
Hmcn1	T	A	1: 150,540,535 (GRCm39)	R2925W	probably damaging	Het
Hspa1a	G	T	17: 35,189,282 (GRCm39)	N540K	probably damaging	Het
Ints6	A	T	14: 62,938,235 (GRCm39)	M649K	probably benign	Het
Katnb1	T	C	8: 95,822,084 (GRCm39)	V270A	possibly damaging	Het
Kctd3	A	G	1: 188,704,561 (GRCm39)	S737P	probably benign	Het
Klra10	T	C	6: 130,249,507 (GRCm39)		probably null	Het
Lmtk3	A	G	7: 45,448,013 (GRCm39)	D1353G	unknown	Het
Lrrk1	A	G	7: 65,912,481 (GRCm39)	V1693A	probably damaging	Het
Mpnd	A	T	17: 56,316,575 (GRCm39)	I85F	probably damaging	Het
Myo3b	A	G	2: 70,179,304 (GRCm39)	T1173A	probably benign	Het
Myof	G	A	19: 37,892,279 (GRCm39)	P1158L	probably damaging	Het
Naip2	A	C	13: 100,298,549 (GRCm39)	S496A	probably benign	Het
Ncor2	A	G	5: 125,187,069 (GRCm39)		probably benign	Het
Npepps	C	T	11: 97,149,099 (GRCm39)		probably null	Het
Opn5	T	A	17: 42,891,640 (GRCm39)	I266F	probably benign	Het
Or4a74	T	G	2: 89,439,790 (GRCm39)	I219L	probably damaging	Het
P2rx4	A	G	5: 122,845,763 (GRCm39)	D16G	probably damaging	Het
Padi2	G	T	4: 140,644,948 (GRCm39)	V61L	probably benign	Het
Pkd1l1	G	A	11: 8,813,911 (GRCm39)	T1480I	probably benign	Het
Plcb1	T	C	2: 135,177,371 (GRCm39)	S568P	probably damaging	Het
Rassf10	A	G	7: 112,554,914 (GRCm39)	E505G	probably damaging	Het
Rhob	G	T	12: 8,549,585 (GRCm39)	C16*	probably null	Het
Ryr3	T	C	2: 112,490,413 (GRCm39)	N3807S	probably damaging	Het
Sass6	T	A	3: 116,415,046 (GRCm39)	N519K	probably benign	Het
Slco1a8	A	T	6: 141,939,368 (GRCm39)	N208K	possibly damaging	Het
Smad9	A	T	3: 54,689,864 (GRCm39)	D28V	probably damaging	Het
Spmip8	A	T	8: 96,047,894 (GRCm39)		probably null	Het
Tex14	G	T	11: 87,405,199 (GRCm39)	G704C	probably benign	Het
Tmc3	A	G	7: 83,271,524 (GRCm39)	N892S	probably benign	Het
Tnfaip2	T	A	12: 111,412,097 (GRCm39)	L166Q	probably damaging	Het
Triml2	A	G	8: 43,638,165 (GRCm39)		probably null	Het
Trio	A	G	15: 27,856,193 (GRCm39)	V666A	probably benign	Het
Tshz2	G	T	2: 169,726,584 (GRCm39)	L393F	probably damaging	Het
Ttn	T	G	2: 76,672,115 (GRCm39)		probably benign	Het
Tubb5	A	G	17: 36,146,734 (GRCm39)	Y159H	probably damaging	Het
Umodl1	A	G	17: 31,178,129 (GRCm39)	Y35C	probably damaging	Het
Utp4	T	C	8: 107,631,078 (GRCm39)		probably null	Het
Vmn1r60	A	T	7: 5,547,864 (GRCm39)	C79S	probably damaging	Het
Wnt5b	T	C	6: 119,410,751 (GRCm39)	T230A	probably damaging	Het
Zfp618	A	T	4: 63,050,943 (GRCm39)	I575F	probably damaging	Het
Zmym6	G	T	4: 127,017,176 (GRCm39)	V894L	possibly damaging	Het
Zpbp	T	C	11: 11,412,318 (GRCm39)		probably benign	Het

Other mutations in Rcan2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Rcan2	APN	17	44,347,960 (GRCm39)	missense	possibly damaging	0.61
IGL00430:Rcan2	APN	17	44,147,275 (GRCm39)	missense	probably benign	0.08
IGL00958:Rcan2	APN	17	44,347,908 (GRCm39)	missense	probably damaging	1.00
IGL01121:Rcan2	APN	17	44,328,775 (GRCm39)	missense	probably damaging	0.99
IGL01397:Rcan2	APN	17	44,147,359 (GRCm39)	missense	possibly damaging	0.56
IGL01897:Rcan2	APN	17	44,147,325 (GRCm39)	missense	probably damaging	0.99
R1510:Rcan2	UTSW	17	44,147,315 (GRCm39)	missense	probably damaging	1.00
R1803:Rcan2	UTSW	17	44,347,924 (GRCm39)	missense	probably damaging	1.00
R1862:Rcan2	UTSW	17	44,347,980 (GRCm39)	splice site	probably null
R3841:Rcan2	UTSW	17	44,347,870 (GRCm39)	missense	probably benign	0.25
R4241:Rcan2	UTSW	17	44,264,370 (GRCm39)	missense	probably benign	0.03
R4402:Rcan2	UTSW	17	44,264,361 (GRCm39)	missense	probably benign	0.00
R4955:Rcan2	UTSW	17	44,347,972 (GRCm39)	missense	probably damaging	1.00
R5014:Rcan2	UTSW	17	44,328,704 (GRCm39)	missense	probably damaging	1.00
R5470:Rcan2	UTSW	17	44,147,174 (GRCm39)	missense	probably benign	0.02
R5555:Rcan2	UTSW	17	44,347,921 (GRCm39)	missense	probably damaging	1.00
R6393:Rcan2	UTSW	17	44,264,370 (GRCm39)	missense	probably benign	0.03
R7007:Rcan2	UTSW	17	44,147,216 (GRCm39)	missense	probably benign
R7307:Rcan2	UTSW	17	44,331,993 (GRCm39)	nonsense	probably null
R7602:Rcan2	UTSW	17	44,328,689 (GRCm39)	missense	probably benign	0.00
R9044:Rcan2	UTSW	17	44,147,245 (GRCm39)	missense	probably benign	0.30
R9199:Rcan2	UTSW	17	44,264,423 (GRCm39)	missense	probably benign
R9251:Rcan2	UTSW	17	44,328,701 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TGTGGTCTTAATGAACGCTTCTTC -3'
(R):5'- GGAAAGAGACACTCGTCAAATCTC -3'

Sequencing Primer
(F):5'- GGTCTTAATGAACGCTTCTTCTAATC -3'
(R):5'- ACACTTCAGAATGTGTGTCTTACC -3'

Posted On

2018-05-21