Mutagenetix > Incidental Mutation

Incidental Mutation 'R3950:Rcvrn'

307883

Institutional Source

Beutler Lab

Gene Symbol

Rcvrn

Ensembl Gene

ENSMUSG00000020907

Gene Name

recoverin

Synonyms

S-modulin, cancer associated retinopathy protein, guanylate cyclase activator

MMRRC Submission

040930-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3950 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67695326-67703333 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67700051 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 154 (K154E)

Ref Sequence

ENSEMBL: ENSMUSP00000021290 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021289] [ENSMUST00000021290]

AlphaFold

P34057

Predicted Effect

probably benign
Transcript: ENSMUST00000021289

SMART Domains

Protein: ENSMUSP00000021289
Gene: ENSMUSG00000049928

Domain	Start	End	E-Value	Type
Pfam:7tm_2	17	225	4.8e-54	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000021290
AA Change: K154E

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

SMART Domains

Protein: ENSMUSP00000021290
Gene: ENSMUSG00000020907
AA Change: K154E

Domain	Start	End	E-Value	Type
EFh	65	93	2.37e-3	SMART
EFh	101	129	3.27e-6	SMART
Blast:EFh	151	179	9e-9	BLAST

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

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 recoverin family of neuronal calcium sensors. The encoded protein contains three calcium-binding EF-hand domains and may prolong the termination of the phototransduction cascade in the retina by blocking the phosphorylation of photo-activated rhodopsin. Recoverin may be the antigen responsible for cancer-associated retinopathy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit faster flash response recovery in dark-adapted rods, decreased sensitivity of rods to steps of light and altered kinetics of sodium/calcium-potassium exchange in rods. [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
4932414N04Rik	T	C	2: 68,664,403		probably null	Het
Ahnak2	A	T	12: 112,785,789	I186N	probably damaging	Het
Appbp2	A	G	11: 85,194,706	I458T	probably damaging	Het
Arhgef25	T	C	10: 127,185,144	Y291C	probably damaging	Het
Ate1	T	C	7: 130,467,292	Y415C	probably damaging	Het
B4galt4	G	T	16: 38,768,022	A72S	probably benign	Het
C3	T	C	17: 57,225,286	R178G	probably benign	Het
Cdh23	T	C	10: 60,657,326	Y3C	probably benign	Het
Col11a1	T	C	3: 114,121,445		probably null	Het
Col22a1	A	G	15: 71,977,358	F294L	possibly damaging	Het
Dera	A	G	6: 137,837,120	Y100C	probably damaging	Het
Dync2h1	A	T	9: 7,112,061	Y276*	probably null	Het
Eea1	A	T	10: 96,042,134	N1389I	probably damaging	Het
Epha4	A	T	1: 77,399,716	Y509N	probably damaging	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Fezf1	T	A	6: 23,247,420	K219*	probably null	Het
Fsd1	G	A	17: 55,995,517		probably null	Het
Haspin	A	G	11: 73,136,395	Y623H	probably damaging	Het
Hsd3b1	C	T	3: 98,856,138	V56M	possibly damaging	Het
Hyou1	C	T	9: 44,385,227	T483I	probably damaging	Het
Kdm2a	A	G	19: 4,343,232	L365S	possibly damaging	Het
Kdm6b	G	T	11: 69,405,615	P609T	probably damaging	Het
Klhl18	T	A	9: 110,428,902	Y490F	probably damaging	Het
Ky	C	T	9: 102,542,428	Q545*	probably null	Het
L1td1	T	C	4: 98,737,353	L595P	probably benign	Het
Map3k20	T	G	2: 72,438,300	I550M	probably damaging	Het
Mug1	T	A	6: 121,878,530	V941E	probably damaging	Het
Ndst1	T	C	18: 60,697,139	N633S	probably benign	Het
Ninl	A	T	2: 150,952,488	I740K	possibly damaging	Het
Npepl1	A	G	2: 174,121,113	N431D	probably damaging	Het
Olfr1128	T	C	2: 87,545,065	T160A	probably damaging	Het
Pacs2	T	C	12: 113,061,113	S408P	probably damaging	Het
Pard6b	C	T	2: 168,099,194	T367I	probably damaging	Het
Pcdhga7	A	G	18: 37,716,515	E525G	probably damaging	Het
Pctp	A	G	11: 89,987,318	I130T	probably benign	Het
Pcx	C	T	19: 4,617,967	H506Y	probably benign	Het
Pdhx	A	G	2: 103,035,241	S199P	probably damaging	Het
Pdia2	C	A	17: 26,197,616		probably null	Het
Pif1	C	A	9: 65,591,834	N445K	probably damaging	Het
Prickle4	T	C	17: 47,688,582	K349E	probably benign	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Ptpdc1	A	T	13: 48,589,194	M173K	probably damaging	Het
Rb1	A	G	14: 73,262,662	L515P	probably damaging	Het
Ros1	C	T	10: 52,066,388	V2059I	probably damaging	Het
Rtn4ip1	T	A	10: 43,909,897		probably null	Het
Sema5a	T	C	15: 32,689,338	Y1050H	probably damaging	Het
Slc25a28	C	T	19: 43,664,269	V318I	probably benign	Het
Srek1	G	A	13: 103,744,895	R408W	unknown	Het
Synrg	C	T	11: 83,989,815	T444I	probably damaging	Het
Ticrr	T	C	7: 79,682,069	L776S	probably damaging	Het
Tmem127	T	C	2: 127,248,657	L31P	probably damaging	Het
Tmprss15	T	A	16: 79,073,186	T190S	probably benign	Het
Trip10	T	A	17: 57,253,411		probably null	Het
Ttc6	A	G	12: 57,649,506	Y31C	probably damaging	Het
Unc80	A	T	1: 66,622,570	H1718L	possibly damaging	Het
Zbtb38	A	G	9: 96,687,546	F495S	probably damaging	Het
Zfp280d	G	T	9: 72,296,019	Q16H	possibly damaging	Het
Zfp521	A	G	18: 13,846,346	S337P	probably damaging	Het
Zswim9	T	A	7: 13,261,577	T218S	possibly damaging	Het

Other mutations in Rcvrn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3875:Rcvrn	UTSW	11	67700054	missense	probably benign	0.03
R3877:Rcvrn	UTSW	11	67699976	missense	probably damaging	1.00
R4214:Rcvrn	UTSW	11	67695688	missense	possibly damaging	0.94
R4916:Rcvrn	UTSW	11	67695765	missense	probably damaging	1.00
R4979:Rcvrn	UTSW	11	67695420	missense	probably damaging	1.00
R5009:Rcvrn	UTSW	11	67695724	missense	probably benign	0.01
R5079:Rcvrn	UTSW	11	67702941	missense	probably damaging	1.00
R5088:Rcvrn	UTSW	11	67695514	missense	probably benign	0.17
R5428:Rcvrn	UTSW	11	67700049	missense	possibly damaging	0.76
R7390:Rcvrn	UTSW	11	67700057	missense	probably damaging	1.00
R9049:Rcvrn	UTSW	11	67695742	missense	probably benign	0.01
R9143:Rcvrn	UTSW	11	67700064	missense	possibly damaging	0.85
R9185:Rcvrn	UTSW	11	67695654	missense	possibly damaging	0.83
X0065:Rcvrn	UTSW	11	67700072	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTCCCTGTAAGAATGATATAGTCTG -3'
(R):5'- GTGGTGACAAGAGCATGTTCC -3'

Sequencing Primer
(F):5'- GGCCGAAAATTGAGTGTTTAACCC -3'
(R):5'- AAGAGCATGTTCCCCAGTTCTG -3'

Posted On

2015-04-17