Mutagenetix > Incidental Mutation

Incidental Mutation 'R7573:Crygs'

586186

Institutional Source

Beutler Lab

Gene Symbol

Crygs

Ensembl Gene

ENSMUSG00000033501

Gene Name

crystallin, gamma S

Synonyms

Opj

MMRRC Submission

045659-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7573 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22623953-22630160 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to A at 22624069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Cysteine at position 179 (*179C)

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 null
Transcript: ENSMUST00000040592
AA Change: *179C

SMART Domains

Protein: ENSMUSP00000043588
Gene: ENSMUSG00000033501
AA Change: *179C

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: 99.1%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,366,917 (GRCm39)	I49F		Het
1810055G02Rik	T	A	19: 3,765,728 (GRCm39)	M1K	probably null	Het
Abcb1b	G	A	5: 8,878,866 (GRCm39)	C750Y	possibly damaging	Het
Abi2	T	A	1: 60,509,867 (GRCm39)	V412D	probably benign	Het
Alk	C	T	17: 72,207,787 (GRCm39)	V983M	probably damaging	Het
Alppl2	A	T	1: 87,015,953 (GRCm39)	W266R	possibly damaging	Het
Arhgef18	A	G	8: 3,434,918 (GRCm39)	R188G	probably damaging	Het
Atp2c2	A	T	8: 120,478,008 (GRCm39)	D695V	probably damaging	Het
B3gnt4	A	T	5: 123,648,718 (GRCm39)	I28L	probably benign	Het
C2cd3	A	G	7: 100,068,914 (GRCm39)	D536G		Het
Cacna1c	A	G	6: 118,581,406 (GRCm39)	S1733P		Het
Cacna1e	T	C	1: 154,601,911 (GRCm39)		probably benign	Het
Capns1	A	G	7: 29,891,960 (GRCm39)	F101L	probably damaging	Het
Ccdc180	A	G	4: 45,922,015 (GRCm39)	T1030A	probably benign	Het
Cdh23	T	C	10: 60,159,329 (GRCm39)	T2151A	probably benign	Het
Cenpe	T	A	3: 134,953,220 (GRCm39)	L1558Q	probably damaging	Het
Cfap157	T	C	2: 32,667,520 (GRCm39)	H521R	probably benign	Het
Ctsb	T	C	14: 63,375,550 (GRCm39)	V172A	probably benign	Het
Cul9	T	C	17: 46,830,836 (GRCm39)	T1686A	probably benign	Het
Cutc	T	C	19: 43,748,382 (GRCm39)	V95A	probably benign	Het
Cxcl3	A	G	5: 90,934,105 (GRCm39)	T26A	probably benign	Het
Dnah9	A	G	11: 66,016,041 (GRCm39)	V400A	probably benign	Het
Dysf	A	T	6: 84,107,104 (GRCm39)	N1139I	possibly damaging	Het
Fam136a	G	A	6: 86,343,667 (GRCm39)	E55K	probably benign	Het
Fam151a	A	G	4: 106,600,502 (GRCm39)	D179G	probably damaging	Het
Fam178b	T	C	1: 36,671,533 (GRCm39)	D196G	probably damaging	Het
Fut9	A	T	4: 25,620,691 (GRCm39)	M41K	probably benign	Het
Gm9195	T	C	14: 72,694,122 (GRCm39)	Q1531R	probably null	Het
Gpr6	A	T	10: 40,946,868 (GRCm39)	V238D	probably damaging	Het
Hoxa2	A	T	6: 52,140,283 (GRCm39)	S234R	probably benign	Het
Itga4	A	G	2: 79,103,337 (GRCm39)	T143A	probably benign	Het
Kcnq2	A	G	2: 180,723,382 (GRCm39)	S693P	probably benign	Het
Kif13b	A	G	14: 65,041,107 (GRCm39)	I1732V	probably benign	Het
Klhl14	A	G	18: 21,785,211 (GRCm39)	V72A	probably benign	Het
Krt1c	T	A	15: 101,722,954 (GRCm39)	D348V	probably benign	Het
Map4k2	A	T	19: 6,394,094 (GRCm39)	E300D	probably benign	Het
Mars1	A	G	10: 127,138,679 (GRCm39)		probably null	Het
Mpo	A	G	11: 87,688,403 (GRCm39)	D354G	probably benign	Het
Mrpl15	T	C	1: 4,847,778 (GRCm39)	T174A	probably damaging	Het
Myom2	G	A	8: 15,172,450 (GRCm39)	C1183Y	probably damaging	Het
Nfkb2	C	A	19: 46,297,082 (GRCm39)	Q336K	possibly damaging	Het
Nlrp2	A	G	7: 5,320,468 (GRCm39)		probably null	Het
Nlrp9b	T	C	7: 19,753,125 (GRCm39)	L10P	probably damaging	Het
Nrip2	A	G	6: 128,377,232 (GRCm39)	S53G	probably benign	Het
Or13a22	G	A	7: 140,072,912 (GRCm39)	M120I	probably damaging	Het
Or4k36	T	C	2: 111,146,277 (GRCm39)	I151T	probably benign	Het
Or52a5b	A	G	7: 103,416,677 (GRCm39)	M309T	probably benign	Het
Or52z13	C	T	7: 103,246,735 (GRCm39)	L71F	probably benign	Het
Or8b54	A	T	9: 38,686,791 (GRCm39)	K80I	probably damaging	Het
Or8g18	C	T	9: 39,148,977 (GRCm39)	V248I	probably benign	Het
Pak5	A	G	2: 135,958,225 (GRCm39)	S288P	probably damaging	Het
Pjvk	T	C	2: 76,487,809 (GRCm39)	F234L	probably benign	Het
Plekhm2	T	C	4: 141,358,658 (GRCm39)	N616D	probably benign	Het
Pnkp	C	T	7: 44,506,852 (GRCm39)	R9C	probably damaging	Het
Prom1	A	G	5: 44,213,272 (GRCm39)	C154R	probably damaging	Het
Rab3gap2	T	A	1: 185,014,579 (GRCm39)	W1243R	probably benign	Het
Rad17	C	T	13: 100,765,974 (GRCm39)	A385T	probably damaging	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Rnf213	T	C	11: 119,349,310 (GRCm39)	C3804R		Het
Ros1	T	A	10: 52,046,072 (GRCm39)	T153S	probably benign	Het
Sema4g	T	C	19: 44,986,010 (GRCm39)	S284P	probably damaging	Het
Septin9	C	T	11: 117,090,571 (GRCm39)		probably benign	Het
Slc2a9	T	C	5: 38,574,569 (GRCm39)	S236G	probably damaging	Het
Slc9c1	T	C	16: 45,398,256 (GRCm39)	F674L	probably benign	Het
Slfn5	A	T	11: 82,849,585 (GRCm39)	K361N	probably damaging	Het
Smad6	A	G	9: 63,929,052 (GRCm39)	L88S	unknown	Het
Smarca4	T	A	9: 21,550,371 (GRCm39)		probably null	Het
Smg7	A	T	1: 152,735,240 (GRCm39)	N198K	probably damaging	Het
Sorcs1	G	A	19: 50,141,234 (GRCm39)	Q1166*	probably null	Het
Stap1	A	G	5: 86,238,854 (GRCm39)	N212S	possibly damaging	Het
Tbx2	C	G	11: 85,724,138 (GRCm39)	A69G	possibly damaging	Het
Tmc1	C	A	19: 20,884,372 (GRCm39)	D23Y	probably damaging	Het
Tmf1	A	T	6: 97,135,455 (GRCm39)	D940E	probably benign	Het
Trim27	T	A	13: 21,364,770 (GRCm39)	C36S	probably damaging	Het
Unc80	G	A	1: 66,560,696 (GRCm39)	G808D	probably damaging	Het
Usp17ld	G	T	7: 102,900,094 (GRCm39)	Y279*	probably null	Het
Usp40	G	A	1: 87,913,794 (GRCm39)	A433V	probably benign	Het
Vmn1r49	G	A	6: 90,049,843 (GRCm39)	A53V	probably benign	Het
Vmn1r84	T	C	7: 12,095,787 (GRCm39)	N302S	probably benign	Het
Wfdc2	A	T	2: 164,407,741 (GRCm39)	I137L	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
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'- CCGTGTAAATGCCCACTGTG -3'
(R):5'- CCACGGAAGACTGTCCTTCTATC -3'

Sequencing Primer
(F):5'- TGTAAATGCCCACTGTGGAGGG -3'
(R):5'- GAAGACTGTCCTTCTATCATGGAGC -3'

Posted On

2019-10-24