Mutagenetix > Incidental Mutation

Incidental Mutation 'R3870:Crygs'

276542

Institutional Source

Beutler Lab

Gene Symbol

Crygs

Ensembl Gene

ENSMUSG00000033501

Gene Name

crystallin, gamma S

Synonyms

Opj

MMRRC Submission

040789-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3870 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22623953-22630160 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 22624301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 102 (G102D)

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

possibly damaging
Transcript: ENSMUST00000040592
AA Change: G102D

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000043588
Gene: ENSMUSG00000033501
AA Change: G102D

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

90% (61/68)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028J19Rik	T	A	7: 43,880,828 (GRCm39)		probably null	Het
Adam22	C	A	5: 8,182,418 (GRCm39)	C514F	probably damaging	Het
Akap8	G	A	17: 32,536,813 (GRCm39)		probably benign	Het
Armcx2	A	T	X: 133,707,048 (GRCm39)	V195E	probably benign	Het
Atg7	T	C	6: 114,674,008 (GRCm39)	S301P	possibly damaging	Het
Cc2d2a	C	A	5: 43,876,033 (GRCm39)	Y1003*	probably null	Het
Ccdc93	A	G	1: 121,390,843 (GRCm39)	S272G	probably benign	Het
Ces1d	C	G	8: 93,901,714 (GRCm39)	L418F	probably benign	Het
Cntnap5a	A	G	1: 115,987,979 (GRCm39)	E170G	probably damaging	Het
Cplane1	A	T	15: 8,247,948 (GRCm39)	K1499M	probably damaging	Het
Ehd4	T	A	2: 119,967,434 (GRCm39)	D120V	probably damaging	Het
Eif4g3	T	A	4: 137,824,211 (GRCm39)	V71E	probably damaging	Het
Exoc5	A	G	14: 49,256,853 (GRCm39)		probably benign	Het
Glud1	T	A	14: 34,047,537 (GRCm39)		probably benign	Het
Gm10985	TTCTCTCTCTCTCTCTCT	TTCTCTCTCTCTCTCT	3: 53,752,626 (GRCm39)		probably null	Het
Gm11555	G	T	11: 99,540,816 (GRCm39)	C64*	probably null	Het
Gm5468	A	G	15: 25,414,561 (GRCm39)		probably benign	Het
Gpatch2	T	A	1: 187,054,491 (GRCm39)	L74Q	probably damaging	Het
Hnrnpa0	G	A	13: 58,275,713 (GRCm39)	R139C	probably damaging	Het
Hrh1	A	G	6: 114,457,880 (GRCm39)	Y387C	probably damaging	Het
Ldb3	A	T	14: 34,289,440 (GRCm39)	D216E	probably damaging	Het
Lingo1	A	T	9: 56,527,009 (GRCm39)	S533T	probably benign	Het
Lmtk2	T	G	5: 144,103,245 (GRCm39)		probably benign	Het
Map1s	A	G	8: 71,369,745 (GRCm39)	E939G	possibly damaging	Het
Mast1	G	A	8: 85,645,360 (GRCm39)	T695I	probably damaging	Het
Mettl21e	G	A	1: 44,245,524 (GRCm39)	R241W	probably benign	Het
Mfsd4a	G	A	1: 131,974,091 (GRCm39)	T261I	probably damaging	Het
Mmel1	T	C	4: 154,968,095 (GRCm39)	S144P	probably benign	Het
Myo16	A	T	8: 10,492,239 (GRCm39)	H727L	probably benign	Het
Ncoa6	T	C	2: 155,257,477 (GRCm39)		probably null	Het
Nipa2	T	C	7: 55,582,690 (GRCm39)	R352G	probably damaging	Het
Oaf	C	T	9: 43,134,055 (GRCm39)	R222Q	probably benign	Het
Or2ag2b	T	A	7: 106,418,047 (GRCm39)	Y252*	probably null	Het
Pard3	T	C	8: 128,136,167 (GRCm39)	S847P	probably damaging	Het
Pgbd1	C	T	13: 21,618,540 (GRCm39)	R39H	possibly damaging	Het
Plcb1	A	C	2: 135,167,591 (GRCm39)	I462L	probably damaging	Het
Prex2	T	C	1: 11,230,416 (GRCm39)	V814A	possibly damaging	Het
Rasal3	G	A	17: 32,612,522 (GRCm39)	R780W	possibly damaging	Het
Rubcnl	C	T	14: 75,278,356 (GRCm39)	P380L	probably benign	Het
Ryk	A	G	9: 102,768,427 (GRCm39)	E359G	probably damaging	Het
Sall2	C	A	14: 52,551,451 (GRCm39)	L579F	probably damaging	Het
Satb2	A	G	1: 56,930,379 (GRCm39)	S215P	probably damaging	Het
Scg3	T	C	9: 75,582,781 (GRCm39)		probably benign	Het
Slc35f5	A	G	1: 125,490,098 (GRCm39)	T65A	probably benign	Het
Snx33	T	C	9: 56,834,024 (GRCm39)	N15S	probably benign	Het
Stat2	T	A	10: 128,113,762 (GRCm39)	S180R	probably benign	Het
Stxbp2	A	G	8: 3,684,079 (GRCm39)	T129A	probably damaging	Het
Tas1r3	A	T	4: 155,945,810 (GRCm39)	C529S	probably damaging	Het
Tlr12	T	A	4: 128,510,361 (GRCm39)	M630L	probably benign	Het
Tnfrsf10b	T	G	14: 70,010,905 (GRCm39)	D103E	probably benign	Het
Togaram1	A	C	12: 65,049,419 (GRCm39)	E1285D	probably benign	Het
Tppp	A	G	13: 74,178,891 (GRCm39)	T111A	probably benign	Het
Trim12c	T	C	7: 103,997,544 (GRCm39)	Q4R	probably benign	Het
Ttbk2	T	G	2: 120,570,500 (GRCm39)	S1149R	probably damaging	Het
Uncx	T	C	5: 139,533,120 (GRCm39)	L395P	probably damaging	Het
Usp14	A	G	18: 10,002,370 (GRCm39)	S314P	possibly damaging	Het
Usp32	A	T	11: 84,897,881 (GRCm39)	Y1153*	probably null	Het
Vmn2r6	T	C	3: 64,464,042 (GRCm39)	E264G	probably damaging	Het
Vmn2r77	T	C	7: 86,461,050 (GRCm39)	F792S	probably damaging	Het
Vps13c	A	G	9: 67,792,008 (GRCm39)	I425V	probably benign	Het
Vstm4	C	T	14: 32,585,712 (GRCm39)	A93V	probably benign	Het
Xrcc6	T	A	15: 81,909,885 (GRCm39)	S97T	probably benign	Het
Zscan20	A	G	4: 128,480,218 (GRCm39)	C758R	probably damaging	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
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
R9653:Crygs	UTSW	16	22,625,304 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- GAGAACTCTATGGTCCCACTCC -3'
(R):5'- AGAGTTCTGATGACCCTCCC -3'

Sequencing Primer
(F):5'- TCACTCCACAATGCGGCG -3'
(R):5'- TGATGACCCTCCCTTAAGGATGAG -3'

Posted On

2015-04-06