Mutagenetix > Incidental Mutation

Incidental Mutation 'R9185:Rcvrn'

697327

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9185 (G1)

Quality Score

223.009

Status

Validated

Chromosome

Chromosomal Location

67586152-67594159 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67586480 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 80 (T80A)

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

possibly damaging
Transcript: ENSMUST00000021290
AA Change: T80A

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000021290
Gene: ENSMUSG00000020907
AA Change: T80A

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (71/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	G	7: 119,177,421 (GRCm39)	H312R	possibly damaging	Het
Aloxe3	T	C	11: 69,025,114 (GRCm39)	F409S	probably damaging	Het
Arfgef1	T	A	1: 10,215,004 (GRCm39)	N1630I	probably damaging	Het
Catsperd	G	A	17: 56,968,252 (GRCm39)	D546N	probably benign	Het
Cbl	A	G	9: 44,064,137 (GRCm39)	S800P	probably damaging	Het
Ccne1	A	T	7: 37,799,255 (GRCm39)	S220T	probably benign	Het
Cd177	T	C	7: 24,443,668 (GRCm39)	Y810C	probably benign	Het
Cercam	T	C	2: 29,766,033 (GRCm39)	V304A	possibly damaging	Het
Cfap100	T	C	6: 90,390,416 (GRCm39)	T75A		Het
Clcn4	T	A	7: 7,287,197 (GRCm39)	I744F	possibly damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Col27a1	A	G	4: 63,246,887 (GRCm39)	N1670S	unknown	Het
Cps1	G	A	1: 67,248,831 (GRCm39)	R1186Q	probably benign	Het
Cr1l	C	A	1: 194,797,053 (GRCm39)	C328F	probably damaging	Het
Crybg1	T	A	10: 43,880,091 (GRCm39)	T366S	probably benign	Het
Ctbp2	A	T	7: 132,615,712 (GRCm39)	S408T	probably damaging	Het
Dync1h1	T	C	12: 110,601,937 (GRCm39)	S1992P	probably benign	Het
Glyatl3	A	T	17: 41,225,234 (GRCm39)	V3E	probably damaging	Het
Gse1	T	C	8: 121,294,908 (GRCm39)	M343T	possibly damaging	Het
Gys2	T	C	6: 142,405,112 (GRCm39)	D225G	probably damaging	Het
Hecw1	T	C	13: 14,491,628 (GRCm39)	S42G	probably damaging	Het
Helz2	A	G	2: 180,871,883 (GRCm39)	C2673R	probably benign	Het
Hivep1	G	A	13: 42,337,975 (GRCm39)	V2685I	possibly damaging	Het
Icam5	A	G	9: 20,950,165 (GRCm39)	E908G	probably damaging	Het
Kcne1	A	T	16: 92,145,796 (GRCm39)	L16Q	possibly damaging	Het
Kcnk5	G	T	14: 20,195,135 (GRCm39)	Y118*	probably null	Het
Kctd11	T	C	11: 69,770,676 (GRCm39)	T121A	possibly damaging	Het
Mier3	T	C	13: 111,851,260 (GRCm39)	V414A	probably benign	Het
Mindy4	T	C	6: 55,295,261 (GRCm39)	S734P	possibly damaging	Het
Mrps26	T	C	2: 130,405,769 (GRCm39)	V24A	probably benign	Het
Mug2	C	G	6: 122,054,442 (GRCm39)	Q1074E	probably benign	Het
Myo15b	T	C	11: 115,771,255 (GRCm39)	S1P	unknown	Het
Ninj1	A	T	13: 49,344,726 (GRCm39)	T81S	probably benign	Het
Nod2	A	T	8: 89,391,880 (GRCm39)	H729L	probably damaging	Het
Nr1i3	G	A	1: 171,043,955 (GRCm39)	V49I	possibly damaging	Het
Olfm5	G	A	7: 103,810,095 (GRCm39)	Q89*	probably null	Het
Or10ag52	A	T	2: 87,044,174 (GRCm39)	T313S	probably benign	Het
Or2n1b	A	T	17: 38,459,754 (GRCm39)	I92F	probably damaging	Het
Or2y12	T	C	11: 49,426,501 (GRCm39)	V163A	probably benign	Het
Or4e1	A	G	14: 52,700,984 (GRCm39)	S161P	probably benign	Het
Or51a25	C	T	7: 102,373,409 (GRCm39)	R96H	possibly damaging	Het
Or5aq6	A	C	2: 86,923,200 (GRCm39)	D180E	possibly damaging	Het
Or5b124	A	T	19: 13,610,765 (GRCm39)	T97S	probably benign	Het
Or8g53	T	A	9: 39,683,404 (GRCm39)	T231S	probably benign	Het
Pde4dip	T	A	3: 97,666,132 (GRCm39)	T371S	probably benign	Het
Pkhd1l1	T	A	15: 44,453,019 (GRCm39)	S3981R	probably benign	Het
Plxnd1	G	T	6: 115,934,526 (GRCm39)	F1802L	probably damaging	Het
Pramel22	T	C	4: 143,381,898 (GRCm39)	N266S	probably benign	Het
Prcp	A	G	7: 92,582,257 (GRCm39)	H449R	probably benign	Het
Prrc2c	A	G	1: 162,532,212 (GRCm39)	W1468R	unknown	Het
Rhou	T	C	8: 124,387,793 (GRCm39)	L175P	probably damaging	Het
Sacs	T	C	14: 61,444,115 (GRCm39)	S2054P	probably damaging	Het
Slc22a30	A	G	19: 8,321,917 (GRCm39)	S414P	probably benign	Het
Slc2a13	T	A	15: 91,227,906 (GRCm39)	S429C	probably damaging	Het
Slc35b3	A	G	13: 39,123,958 (GRCm39)		probably benign	Het
Smyd3	A	G	1: 178,877,854 (GRCm39)		probably null	Het
Strip1	T	A	3: 107,535,530 (GRCm39)	E64D	probably damaging	Het
Sumf2	T	G	5: 129,875,909 (GRCm39)	C25G	possibly damaging	Het
Syngap1	A	C	17: 27,182,057 (GRCm39)	D1190A	possibly damaging	Het
Tas2r139	C	T	6: 42,118,099 (GRCm39)	T77I	probably benign	Het
Tbce	A	T	13: 14,173,027 (GRCm39)	V468D	probably damaging	Het
Tmem191	G	A	16: 17,094,302 (GRCm39)	R42H	probably damaging	Het
Tmem200c	T	C	17: 69,147,633 (GRCm39)	V72A	probably damaging	Het
Ttc28	T	G	5: 111,371,342 (GRCm39)	F628C	probably benign	Het
Wsb2	G	A	5: 117,501,736 (GRCm39)	V34M	possibly damaging	Het
Zfand6	A	G	7: 84,283,558 (GRCm39)	S15P	probably damaging	Het
Zfp964	A	G	8: 70,115,873 (GRCm39)	N158D	possibly damaging	Het
Zic1	G	T	9: 91,246,542 (GRCm39)	Q177K	probably benign	Het
Zswim4	T	C	8: 84,963,633 (GRCm39)	M1V	probably null	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
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
X0065:Rcvrn	UTSW	11	67,590,898 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACCAAGTTCACAGAGGAGG -3'
(R):5'- ATGACACTCTAGGGAGGTGC -3'

Sequencing Primer
(F):5'- AGGAGCTGAGTGCCTGGTAC -3'
(R):5'- ACTCCACTGGGCTACAAGG -3'

Posted On

2022-02-07