Mutagenetix > Incidental Mutation

Incidental Mutation 'R5079:Rcvrn'

387038

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

042668-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5079 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67586152-67594159 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 67593767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 186 (I186N)

Ref Sequence

ENSEMBL: ENSMUSP00000021290 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021289] [ENSMUST00000021290] [ENSMUST00000051765]

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: I186N

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

SMART Domains

Protein: ENSMUSP00000021290
Gene: ENSMUSG00000020907
AA Change: I186N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000051765

SMART Domains

Protein: ENSMUSP00000061560
Gene: ENSMUSG00000049928

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:HRM	53	122	3.4e-16	PFAM
Pfam:7tm_2	137	394	1.5e-79	PFAM

Meta Mutation Damage Score

0.7473

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.6%

Validation Efficiency

90% (63/70)

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
4930522L14Rik	T	C	5: 109,885,196 (GRCm39)	S221G	probably benign	Het
Abca9	A	T	11: 110,036,395 (GRCm39)	F571L	possibly damaging	Het
Agbl4	T	A	4: 111,423,826 (GRCm39)	M284K	possibly damaging	Het
Ankrd16	A	G	2: 11,783,710 (GRCm39)	D104G	probably damaging	Het
Bpifc	T	C	10: 85,817,168 (GRCm39)	D230G	probably damaging	Het
Casc3	C	T	11: 98,701,252 (GRCm39)		probably benign	Het
Catsperd	T	C	17: 56,965,153 (GRCm39)		probably null	Het
Cpxm2	C	T	7: 131,756,014 (GRCm39)		probably null	Het
Crisp1	A	T	17: 40,619,867 (GRCm39)		probably null	Het
Crybg2	T	C	4: 133,801,564 (GRCm39)	I908T	possibly damaging	Het
Csn3	T	C	5: 88,077,626 (GRCm39)	V44A	possibly damaging	Het
Dipk1c	A	T	18: 84,748,702 (GRCm39)	H100L	probably benign	Het
Dop1a	T	A	9: 86,369,474 (GRCm39)	D102E	probably damaging	Het
Etfdh	T	C	3: 79,525,705 (GRCm39)	Y111C	probably damaging	Het
Fat3	T	C	9: 15,910,423 (GRCm39)	S1860G	probably benign	Het
Gba2	G	T	4: 43,568,640 (GRCm39)		probably benign	Het
Ggta1	A	G	2: 35,312,249 (GRCm39)	I43T	possibly damaging	Het
Glb1l2	T	C	9: 26,682,405 (GRCm39)	I149V	probably benign	Het
Gm5084	T	A	13: 60,360,639 (GRCm39)		noncoding transcript	Het
Gm5591	G	T	7: 38,221,560 (GRCm39)	P170T	probably benign	Het
Gucy2d	A	T	7: 98,107,475 (GRCm39)		probably null	Het
Itpr3	T	C	17: 27,317,397 (GRCm39)	F851L	probably damaging	Het
Kat2b	T	A	17: 53,970,666 (GRCm39)	I684N	probably damaging	Het
Klra17	C	A	6: 129,849,159 (GRCm39)	K138N	possibly damaging	Het
Lrrc4	T	A	6: 28,830,769 (GRCm39)	H282L	possibly damaging	Het
Lyst	T	C	13: 13,931,938 (GRCm39)	I3522T	probably benign	Het
Man2c1	A	G	9: 57,044,000 (GRCm39)	T312A	probably damaging	Het
Mapkbp1	A	G	2: 119,844,214 (GRCm39)	R313G	probably damaging	Het
N4bp2	G	A	5: 65,969,320 (GRCm39)	G1361R	probably damaging	Het
Nbas	A	T	12: 13,424,712 (GRCm39)	I984F	probably damaging	Het
Ncor1	T	A	11: 62,236,063 (GRCm39)	Q579L	possibly damaging	Het
Nme9	A	G	9: 99,341,755 (GRCm39)	Y35C	probably damaging	Het
Or5w13	C	A	2: 87,523,552 (GRCm39)	V225F	probably damaging	Het
Ormdl1	T	C	1: 53,348,093 (GRCm39)	V145A	probably damaging	Het
Paxbp1	C	A	16: 90,822,034 (GRCm39)		probably null	Het
Pcnx1	C	A	12: 82,025,863 (GRCm39)	S1530*	probably null	Het
Pogk	A	G	1: 166,226,733 (GRCm39)	W473R	probably damaging	Het
Pot1b	A	T	17: 55,976,801 (GRCm39)	S374T	probably benign	Het
Rcn1	A	G	2: 105,229,402 (GRCm39)	F50S	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Ror1	T	A	4: 100,298,619 (GRCm39)	I664N	probably damaging	Het
Sall2	G	T	14: 52,552,211 (GRCm39)	A326E	probably damaging	Het
Sh2d6	G	A	6: 72,496,833 (GRCm39)	P66S	probably benign	Het
Slc6a20b	T	A	9: 123,427,563 (GRCm39)	S449C	probably damaging	Het
Slc9a3	A	T	13: 74,312,406 (GRCm39)	N668Y	probably damaging	Het
Slco1a8	A	C	6: 141,918,073 (GRCm39)	I601R	probably benign	Het
Sorcs2	T	G	5: 36,200,796 (GRCm39)	K584T	probably damaging	Het
Stam	T	C	2: 14,079,350 (GRCm39)	M8T	probably benign	Het
Styk1	G	A	6: 131,278,676 (GRCm39)	P333S	probably damaging	Het
Sycp1	A	G	3: 102,786,116 (GRCm39)	C589R	possibly damaging	Het
Tas2r123	A	G	6: 132,824,681 (GRCm39)	I193V	probably benign	Het
Tnks1bp1	C	A	2: 84,892,970 (GRCm39)	Q304K	probably damaging	Het
Traf3ip2	T	C	10: 39,502,473 (GRCm39)	L207P	probably damaging	Het
Usp49	A	G	17: 47,984,146 (GRCm39)	S384G	possibly damaging	Het
Vezt	T	C	10: 93,856,486 (GRCm39)		probably null	Het
Vmn1r87	C	A	7: 12,866,253 (GRCm39)	M11I	probably benign	Het
Vmn2r39	A	G	7: 9,026,489 (GRCm39)	V504A	probably benign	Het
Wapl	G	A	14: 34,446,714 (GRCm39)	A607T	probably damaging	Het
Zfp638	A	G	6: 83,906,438 (GRCm39)	N201S	probably benign	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
R3950:Rcvrn	UTSW	11	67,590,877 (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
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'- GAGTATACGAGTGGCTTCTGGTATC -3'
(R):5'- AAGGACCTTCAGTTGGCAGG -3'

Sequencing Primer
(F):5'- GTCCCTGGGAATGCTGTAC -3'
(R):5'- CTCACACTGCAGGTGTT -3'

Posted On

2016-06-06