Mutagenetix > Incidental Mutation

Incidental Mutation 'R9653:Crygs'

727233

Institutional Source

Beutler Lab

Gene Symbol

Crygs

Ensembl Gene

ENSMUSG00000033501

Gene Name

crystallin, gamma S

Synonyms

Opj

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9653 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22623953-22630160 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22625304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 46 (T46S)

Ref Sequence

ENSEMBL: ENSMUSP00000043588 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040592]

AlphaFold

O35486

PDB Structure

NMR structure of murine gamma-S crystallin [SOLUTION NMR]
NMR structure of murine gamma-S crystallin [SOLUTION NMR]
NMR structure of murine gamma-S crystallin from joint refinement with SAXS data [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000040592
AA Change: T46S

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000043588
Gene: ENSMUSG00000033501
AA Change: T46S

Domain	Start	End	E-Value	Type
XTALbg	7	86	5.98e-40	SMART
XTALbg	95	176	6.26e-43	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. This gene encodes a protein initially considered to be a beta-crystallin but the encoded protein is monomeric and has greater sequence similarity to other gamma-crystallins. This gene encodes the most significant gamma-crystallin in adult eye lens tissue. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene can cause cataracts and/or disrupted lens fiber cell morphology and organization. Aging mice homozygous for a knock-out allele do not develop cataracts but show focusing defects associated with inefficient clearance of cellular organelles and altered actin distribution. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,243,741 (GRCm39)	P1868L	probably benign	Het
Abcc1	T	C	16: 14,214,257 (GRCm39)	Y191H	probably damaging	Het
Adamtsl5	C	T	10: 80,180,763 (GRCm39)	G100R	probably damaging	Het
Adgrg5	C	T	8: 95,663,864 (GRCm39)	P235S		Het
Anks1b	T	G	10: 90,346,524 (GRCm39)	L608R	probably damaging	Het
Ano10	C	G	9: 122,080,221 (GRCm39)	A597P	possibly damaging	Het
Calb2	T	C	8: 110,881,374 (GRCm39)	M58V	probably benign	Het
Ccdc180	T	C	4: 45,923,495 (GRCm39)	I1092T	probably damaging	Het
Ces3b	G	T	8: 105,812,257 (GRCm39)	A169S	probably damaging	Het
Chmp2a	A	T	7: 12,766,456 (GRCm39)	F129I	probably damaging	Het
Clasp2	T	A	9: 113,670,993 (GRCm39)	W365R	probably benign	Het
Col12a1	T	C	9: 79,584,556 (GRCm39)	K1344R	probably benign	Het
Col3a1	A	G	1: 45,360,728 (GRCm39)	I53V	unknown	Het
Coro2b	T	C	9: 62,335,259 (GRCm39)	Y309C	probably damaging	Het
Cramp1	C	A	17: 25,201,783 (GRCm39)	K566N	probably damaging	Het
Ctbp2	C	G	7: 132,615,933 (GRCm39)	R334P	probably damaging	Het
Dcstamp	A	T	15: 39,623,792 (GRCm39)	D469V	probably benign	Het
Dhdh	T	C	7: 45,128,551 (GRCm39)	D209G	probably damaging	Het
Dnah7b	T	C	1: 46,252,544 (GRCm39)	V1742A	possibly damaging	Het
Dnaja2	T	C	8: 86,265,982 (GRCm39)	T368A	probably benign	Het
Dscaml1	T	C	9: 45,643,466 (GRCm39)		probably null	Het
Eps8l1	A	T	7: 4,481,886 (GRCm39)	K704M	unknown	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fgd4	T	A	16: 16,254,461 (GRCm39)	H524L	probably benign	Het
Fktn	T	A	4: 53,731,273 (GRCm39)	F103I	probably benign	Het
Gcc2	T	C	10: 58,110,822 (GRCm39)	M1001T	possibly damaging	Het
Gm4847	T	C	1: 166,467,582 (GRCm39)	S205G	possibly damaging	Het
Grid2	A	T	6: 63,907,968 (GRCm39)	N203Y	possibly damaging	Het
Hif3a	G	A	7: 16,782,641 (GRCm39)	A308V	probably damaging	Het
Htr5a	A	G	5: 28,047,838 (GRCm39)	N131S	possibly damaging	Het
Igfn1	G	A	1: 135,883,323 (GRCm39)	Q2728*	probably null	Het
Ighv5-16	C	A	12: 113,802,313 (GRCm39)	K62N	possibly damaging	Het
Ip6k3	A	T	17: 27,367,588 (GRCm39)	Y203N	possibly damaging	Het
Itga2	G	A	13: 115,020,991 (GRCm39)	P120L	probably benign	Het
Itpkb	G	T	1: 180,160,056 (GRCm39)	E61*	probably null	Het
Kcnj3	G	A	2: 55,484,864 (GRCm39)	V321M	probably damaging	Het
Kmt2c	A	G	5: 25,507,819 (GRCm39)	L3206P	probably damaging	Het
Krtap5-4	T	C	7: 141,857,908 (GRCm39)	C193R	unknown	Het
Large1	G	T	8: 73,564,106 (GRCm39)	H553Q	probably benign	Het
Lrfn5	T	A	12: 61,890,418 (GRCm39)	V569D	probably damaging	Het
Luzp2	A	G	7: 54,702,580 (GRCm39)	T48A	probably damaging	Het
Lypd6	A	T	2: 50,080,758 (GRCm39)	T149S	probably benign	Het
Map3k1	T	C	13: 111,890,296 (GRCm39)	N1301S	possibly damaging	Het
Ndufv2	C	T	17: 66,396,251 (GRCm39)	W91*	probably null	Het
Nisch	A	T	14: 30,893,628 (GRCm39)	V1315E	probably damaging	Het
Npas1	T	C	7: 16,190,146 (GRCm39)	I467V	probably benign	Het
Nucb1	A	G	7: 45,144,202 (GRCm39)	M337T	probably benign	Het
Oog3	T	G	4: 143,884,489 (GRCm39)	R482S	probably benign	Het
Or10d4b	T	C	9: 39,535,154 (GRCm39)	L243P	probably damaging	Het
Or4f14c	A	T	2: 111,941,261 (GRCm39)	M112K	probably damaging	Het
Or51ag1	C	T	7: 103,155,727 (GRCm39)	R142H	probably benign	Het
Or56a42-ps1	A	T	7: 104,775,985 (GRCm39)	N164K	probably benign	Het
Padi2	T	C	4: 140,662,036 (GRCm39)		probably null	Het
Pam	C	T	1: 97,768,469 (GRCm39)	V660M	possibly damaging	Het
Phc2	C	T	4: 128,641,012 (GRCm39)	L700F	probably damaging	Het
Plekha1	T	C	7: 130,479,494 (GRCm39)	V4A	possibly damaging	Het
Rai1	A	G	11: 60,080,142 (GRCm39)	E1402G	probably benign	Het
Recql5	G	A	11: 115,788,032 (GRCm39)	A429V	probably benign	Het
Rere	A	G	4: 150,516,010 (GRCm39)	N101S	probably benign	Het
Robo1	T	G	16: 72,821,330 (GRCm39)	S1357A	possibly damaging	Het
Rsl1	T	A	13: 67,330,106 (GRCm39)	Y185N	probably damaging	Het
Rsph3a	T	C	17: 8,165,074 (GRCm39)	S145P	possibly damaging	Het
Sall1	T	C	8: 89,757,506 (GRCm39)	E866G	probably damaging	Het
Sall3	A	T	18: 81,016,228 (GRCm39)	S567T	probably benign	Het
Sap30	G	A	8: 57,938,156 (GRCm39)	Q154*	probably null	Het
Sbf2	T	C	7: 110,040,702 (GRCm39)	Q375R	possibly damaging	Het
Scn8a	A	G	15: 100,937,947 (GRCm39)	E1772G	probably damaging	Het
Scube3	C	T	17: 28,375,772 (GRCm39)	A169V	probably damaging	Het
Sema6c	T	C	3: 95,080,525 (GRCm39)	S940P	probably benign	Het
Sertad4	C	T	1: 192,528,836 (GRCm39)	D327N	probably damaging	Het
Shisal2b	A	G	13: 105,000,296 (GRCm39)		probably benign	Het
Skp1	A	G	11: 52,134,514 (GRCm39)	T82A	possibly damaging	Het
Slc39a14	G	T	14: 70,547,248 (GRCm39)	T366K	probably damaging	Het
Snrnp200	G	T	2: 127,067,959 (GRCm39)	V819L	probably damaging	Het
Sntg1	T	A	1: 8,433,749 (GRCm39)	T501S	unknown	Het
Srsf12	T	C	4: 33,231,249 (GRCm39)	S253P	possibly damaging	Het
Sycp2l	A	G	13: 41,295,381 (GRCm39)	S315G	probably benign	Het
Tars2	T	C	3: 95,655,379 (GRCm39)	Y337C	probably damaging	Het
Thbs4	T	C	13: 92,898,022 (GRCm39)	D599G	probably benign	Het
Tmem200c	A	G	17: 69,149,181 (GRCm39)	H588R	probably benign	Het
Tmem255b	T	A	8: 13,506,005 (GRCm39)	V204E	probably damaging	Het
Usp24	T	A	4: 106,204,564 (GRCm39)	M261K	probably benign	Het
Utrn	T	A	10: 12,497,123 (GRCm39)	I2429F	probably benign	Het
Utrn	C	T	10: 12,539,189 (GRCm39)	A1943T	probably benign	Het
Vmn2r85	A	T	10: 130,261,694 (GRCm39)	D214E	probably damaging	Het
Wdr81	G	T	11: 75,340,213 (GRCm39)	P183T		Het
Zfp28	G	A	7: 6,395,623 (GRCm39)	R134H		Het
Zfp532	T	A	18: 65,756,308 (GRCm39)	D80E	possibly damaging	Het
Zfyve26	T	C	12: 79,334,418 (GRCm39)	D200G	probably benign	Het

Other mutations in Crygs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00899:Crygs	APN	16	22,625,312 (GRCm39)	missense	possibly damaging	0.81
R1694:Crygs	UTSW	16	22,625,425 (GRCm39)	splice site	probably null
R1932:Crygs	UTSW	16	22,625,304 (GRCm39)	missense	probably benign	0.12
R2206:Crygs	UTSW	16	22,624,301 (GRCm39)	missense	possibly damaging	0.93
R2207:Crygs	UTSW	16	22,624,301 (GRCm39)	missense	possibly damaging	0.93
R2275:Crygs	UTSW	16	22,624,301 (GRCm39)	missense	possibly damaging	0.93
R2298:Crygs	UTSW	16	22,624,301 (GRCm39)	missense	possibly damaging	0.93
R2299:Crygs	UTSW	16	22,624,301 (GRCm39)	missense	possibly damaging	0.93
R2300:Crygs	UTSW	16	22,624,301 (GRCm39)	missense	possibly damaging	0.93
R2326:Crygs	UTSW	16	22,624,301 (GRCm39)	missense	possibly damaging	0.93
R2329:Crygs	UTSW	16	22,624,301 (GRCm39)	missense	possibly damaging	0.93
R2330:Crygs	UTSW	16	22,624,301 (GRCm39)	missense	possibly damaging	0.93
R2331:Crygs	UTSW	16	22,624,301 (GRCm39)	missense	possibly damaging	0.93
R2332:Crygs	UTSW	16	22,624,301 (GRCm39)	missense	possibly damaging	0.93
R2857:Crygs	UTSW	16	22,624,301 (GRCm39)	missense	possibly damaging	0.93
R2895:Crygs	UTSW	16	22,624,301 (GRCm39)	missense	possibly damaging	0.93
R2896:Crygs	UTSW	16	22,624,301 (GRCm39)	missense	possibly damaging	0.93
R2921:Crygs	UTSW	16	22,624,301 (GRCm39)	missense	possibly damaging	0.93
R2922:Crygs	UTSW	16	22,624,301 (GRCm39)	missense	possibly damaging	0.93
R3120:Crygs	UTSW	16	22,624,301 (GRCm39)	missense	possibly damaging	0.93
R3196:Crygs	UTSW	16	22,624,301 (GRCm39)	missense	possibly damaging	0.93
R3427:Crygs	UTSW	16	22,624,301 (GRCm39)	missense	possibly damaging	0.93
R3609:Crygs	UTSW	16	22,624,301 (GRCm39)	missense	possibly damaging	0.93
R3611:Crygs	UTSW	16	22,624,301 (GRCm39)	missense	possibly damaging	0.93
R3625:Crygs	UTSW	16	22,624,301 (GRCm39)	missense	possibly damaging	0.93
R3693:Crygs	UTSW	16	22,624,301 (GRCm39)	missense	possibly damaging	0.93
R3694:Crygs	UTSW	16	22,624,301 (GRCm39)	missense	possibly damaging	0.93
R3695:Crygs	UTSW	16	22,624,301 (GRCm39)	missense	possibly damaging	0.93
R3870:Crygs	UTSW	16	22,624,301 (GRCm39)	missense	possibly damaging	0.93
R3871:Crygs	UTSW	16	22,624,301 (GRCm39)	missense	possibly damaging	0.93
R3876:Crygs	UTSW	16	22,625,262 (GRCm39)	missense	probably damaging	1.00
R4052:Crygs	UTSW	16	22,624,301 (GRCm39)	missense	possibly damaging	0.93
R4207:Crygs	UTSW	16	22,624,301 (GRCm39)	missense	possibly damaging	0.93
R4299:Crygs	UTSW	16	22,624,161 (GRCm39)	nonsense	probably null
R4630:Crygs	UTSW	16	22,624,268 (GRCm39)	missense	possibly damaging	0.90
R7392:Crygs	UTSW	16	22,625,252 (GRCm39)	missense	probably benign	0.35
R7573:Crygs	UTSW	16	22,624,069 (GRCm39)	makesense	probably null
R7954:Crygs	UTSW	16	22,624,082 (GRCm39)	missense	probably damaging	1.00
R7955:Crygs	UTSW	16	22,624,082 (GRCm39)	missense	probably damaging	1.00
R7957:Crygs	UTSW	16	22,624,082 (GRCm39)	missense	probably damaging	1.00
R8172:Crygs	UTSW	16	22,625,292 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACTTAGGAAAGGGCTGTGG -3'
(R):5'- TATCTGTGTGCAAAGCCGC -3'

Sequencing Primer
(F):5'- ACCTGCATGCAAATGTGTGC -3'
(R):5'- GCAAAGCCGCCCAGCTC -3'

Posted On

2022-10-06