Mutagenetix > Incidental Mutation

Incidental Mutation 'R3950:Rcvrn'

307883

Institutional Source

Beutler Lab

Gene Symbol

Rcvrn

Ensembl Gene

ENSMUSG00000020907

Gene Name

recoverin

Synonyms

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

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

67586152-67594159 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67590877 bp (GRCm39)

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: 68,494,747 (GRCm39)		probably null	Het
Ahnak2	A	T	12: 112,749,409 (GRCm39)	I186N	probably damaging	Het
Appbp2	A	G	11: 85,085,532 (GRCm39)	I458T	probably damaging	Het
Arhgef25	T	C	10: 127,021,013 (GRCm39)	Y291C	probably damaging	Het
Ate1	T	C	7: 130,069,022 (GRCm39)	Y415C	probably damaging	Het
B4galt4	G	T	16: 38,588,384 (GRCm39)	A72S	probably benign	Het
C3	T	C	17: 57,532,286 (GRCm39)	R178G	probably benign	Het
Cdh23	T	C	10: 60,493,105 (GRCm39)	Y3C	probably benign	Het
Col11a1	T	C	3: 113,915,094 (GRCm39)		probably null	Het
Col22a1	A	G	15: 71,849,207 (GRCm39)	F294L	possibly damaging	Het
Dera	A	G	6: 137,814,118 (GRCm39)	Y100C	probably damaging	Het
Dync2h1	A	T	9: 7,112,061 (GRCm39)	Y276*	probably null	Het
Eea1	A	T	10: 95,877,996 (GRCm39)	N1389I	probably damaging	Het
Epha4	A	T	1: 77,376,353 (GRCm39)	Y509N	probably damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fezf1	T	A	6: 23,247,419 (GRCm39)	K219*	probably null	Het
Fsd1	G	A	17: 56,302,517 (GRCm39)		probably null	Het
Haspin	A	G	11: 73,027,221 (GRCm39)	Y623H	probably damaging	Het
Hsd3b1	C	T	3: 98,763,454 (GRCm39)	V56M	possibly damaging	Het
Hyou1	C	T	9: 44,296,524 (GRCm39)	T483I	probably damaging	Het
Kdm2a	A	G	19: 4,393,260 (GRCm39)	L365S	possibly damaging	Het
Kdm6b	G	T	11: 69,296,441 (GRCm39)	P609T	probably damaging	Het
Klhl18	T	A	9: 110,257,970 (GRCm39)	Y490F	probably damaging	Het
Ky	C	T	9: 102,419,627 (GRCm39)	Q545*	probably null	Het
L1td1	T	C	4: 98,625,590 (GRCm39)	L595P	probably benign	Het
Map3k20	T	G	2: 72,268,644 (GRCm39)	I550M	probably damaging	Het
Mug1	T	A	6: 121,855,489 (GRCm39)	V941E	probably damaging	Het
Ndst1	T	C	18: 60,830,211 (GRCm39)	N633S	probably benign	Het
Ninl	A	T	2: 150,794,408 (GRCm39)	I740K	possibly damaging	Het
Npepl1	A	G	2: 173,962,906 (GRCm39)	N431D	probably damaging	Het
Or5w10	T	C	2: 87,375,409 (GRCm39)	T160A	probably damaging	Het
Pacs2	T	C	12: 113,024,733 (GRCm39)	S408P	probably damaging	Het
Pard6b	C	T	2: 167,941,114 (GRCm39)	T367I	probably damaging	Het
Pcdhga7	A	G	18: 37,849,568 (GRCm39)	E525G	probably damaging	Het
Pctp	A	G	11: 89,878,144 (GRCm39)	I130T	probably benign	Het
Pcx	C	T	19: 4,667,995 (GRCm39)	H506Y	probably benign	Het
Pdhx	A	G	2: 102,865,586 (GRCm39)	S199P	probably damaging	Het
Pdia2	C	A	17: 26,416,590 (GRCm39)		probably null	Het
Pif1	C	A	9: 65,499,116 (GRCm39)	N445K	probably damaging	Het
Prickle4	T	C	17: 47,999,507 (GRCm39)	K349E	probably benign	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ptpdc1	A	T	13: 48,742,670 (GRCm39)	M173K	probably damaging	Het
Rb1	A	G	14: 73,500,102 (GRCm39)	L515P	probably damaging	Het
Ros1	C	T	10: 51,942,484 (GRCm39)	V2059I	probably damaging	Het
Rtn4ip1	T	A	10: 43,785,893 (GRCm39)		probably null	Het
Sema5a	T	C	15: 32,689,484 (GRCm39)	Y1050H	probably damaging	Het
Slc25a28	C	T	19: 43,652,708 (GRCm39)	V318I	probably benign	Het
Srek1	G	A	13: 103,881,403 (GRCm39)	R408W	unknown	Het
Synrg	C	T	11: 83,880,641 (GRCm39)	T444I	probably damaging	Het
Ticrr	T	C	7: 79,331,817 (GRCm39)	L776S	probably damaging	Het
Tmem127	T	C	2: 127,090,577 (GRCm39)	L31P	probably damaging	Het
Tmprss15	T	A	16: 78,870,074 (GRCm39)	T190S	probably benign	Het
Trip10	T	A	17: 57,560,411 (GRCm39)		probably null	Het
Ttc6	A	G	12: 57,696,292 (GRCm39)	Y31C	probably damaging	Het
Unc80	A	T	1: 66,661,729 (GRCm39)	H1718L	possibly damaging	Het
Zbtb38	A	G	9: 96,569,599 (GRCm39)	F495S	probably damaging	Het
Zfp280d	G	T	9: 72,203,301 (GRCm39)	Q16H	possibly damaging	Het
Zfp521	A	G	18: 13,979,403 (GRCm39)	S337P	probably damaging	Het
Zswim9	T	A	7: 12,995,503 (GRCm39)	T218S	possibly damaging	Het

Other mutations in Rcvrn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3875:Rcvrn	UTSW	11	67,590,880 (GRCm39)	missense	probably benign	0.03
R3877:Rcvrn	UTSW	11	67,590,802 (GRCm39)	missense	probably damaging	1.00
R4214:Rcvrn	UTSW	11	67,586,514 (GRCm39)	missense	possibly damaging	0.94
R4916:Rcvrn	UTSW	11	67,586,591 (GRCm39)	missense	probably damaging	1.00
R4979:Rcvrn	UTSW	11	67,586,246 (GRCm39)	missense	probably damaging	1.00
R5009:Rcvrn	UTSW	11	67,586,550 (GRCm39)	missense	probably benign	0.01
R5079:Rcvrn	UTSW	11	67,593,767 (GRCm39)	missense	probably damaging	1.00
R5088:Rcvrn	UTSW	11	67,586,340 (GRCm39)	missense	probably benign	0.17
R5428:Rcvrn	UTSW	11	67,590,875 (GRCm39)	missense	possibly damaging	0.76
R7390:Rcvrn	UTSW	11	67,590,883 (GRCm39)	missense	probably damaging	1.00
R9049:Rcvrn	UTSW	11	67,586,568 (GRCm39)	missense	probably benign	0.01
R9143:Rcvrn	UTSW	11	67,590,890 (GRCm39)	missense	possibly damaging	0.85
R9185:Rcvrn	UTSW	11	67,586,480 (GRCm39)	missense	possibly damaging	0.83
X0065:Rcvrn	UTSW	11	67,590,898 (GRCm39)	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