Mutagenetix > Incidental Mutation

Incidental Mutation 'R3196:Crygs'

267678

Institutional Source

Beutler Lab

Gene Symbol

Crygs

Ensembl Gene

ENSMUSG00000033501

Gene Name

crystallin, gamma S

Synonyms

Opj

MMRRC Submission

040617-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3196 (G1)

Quality Score

225

Status

Not 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: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	A	T	15: 57,892,132 (GRCm39)	N158K	probably benign	Het
Acnat1	G	C	4: 49,447,457 (GRCm39)	P357A	probably damaging	Het
Akap6	T	A	12: 53,119,240 (GRCm39)	C1102*	probably null	Het
Amelx	T	C	X: 167,964,826 (GRCm39)		probably benign	Het
Brap	G	A	5: 121,803,259 (GRCm39)	V136I	possibly damaging	Het
Csgalnact1	TGG	TG	8: 68,913,737 (GRCm39)		probably null	Het
Csk	A	T	9: 57,537,556 (GRCm39)	C119*	probably null	Het
Dcbld1	T	C	10: 52,195,587 (GRCm39)	L265P	probably damaging	Het
Desi1	T	A	15: 81,887,976 (GRCm39)	K31N	probably damaging	Het
Dpy19l2	C	A	9: 24,607,285 (GRCm39)	G59C	probably damaging	Het
Eif2b5	T	C	16: 20,324,272 (GRCm39)	V498A	probably benign	Het
Epdr1	A	T	13: 19,778,815 (GRCm39)	Y94N	probably damaging	Het
Fat1	T	C	8: 45,404,905 (GRCm39)	V552A	probably benign	Het
Focad	A	G	4: 88,325,588 (GRCm39)	E151G	possibly damaging	Het
Frem1	A	G	4: 82,932,351 (GRCm39)	F117L	probably damaging	Het
Frem2	A	T	3: 53,444,752 (GRCm39)	Y2460N	probably damaging	Het
Gm3604	A	T	13: 62,517,868 (GRCm39)	C163*	probably null	Het
Gpalpp1	A	C	14: 76,336,063 (GRCm39)		probably null	Het
Grid2ip	A	G	5: 143,373,933 (GRCm39)	I858V	probably damaging	Het
Grin2b	ATTGTTGT	ATTGT	6: 135,709,453 (GRCm39)		probably benign	Het
Hps4	A	G	5: 112,512,429 (GRCm39)	T182A	probably damaging	Het
Impa1	A	T	3: 10,394,075 (GRCm39)		probably null	Het
Kcnh3	T	C	15: 99,131,862 (GRCm39)	S606P	probably damaging	Het
Kif23	T	A	9: 61,839,193 (GRCm39)	R301*	probably null	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lcp2	G	T	11: 34,040,670 (GRCm39)	A529S	probably benign	Het
Lhx8	G	A	3: 154,035,925 (GRCm39)	A22V	probably benign	Het
Lin28a	A	T	4: 133,735,235 (GRCm39)	S134T	possibly damaging	Het
Med27	T	A	2: 29,236,882 (GRCm39)	V9E	possibly damaging	Het
Mmp7	C	A	9: 7,692,219 (GRCm39)	S31R	probably benign	Het
Mtcl1	T	G	17: 66,650,829 (GRCm39)	E1545D	probably benign	Het
Muc16	A	G	9: 18,409,126 (GRCm39)	Y187H	probably damaging	Het
Myo3a	G	T	2: 22,404,679 (GRCm39)	K678N	possibly damaging	Het
Nsmce1	T	C	7: 125,085,645 (GRCm39)	M15V	probably benign	Het
Nxpe3	A	T	16: 55,670,078 (GRCm39)	N342K	probably damaging	Het
Or7g25	A	G	9: 19,160,495 (GRCm39)	S67P	probably damaging	Het
Or8g2	T	A	9: 39,821,756 (GRCm39)	I219N	probably damaging	Het
Pcdhb9	A	G	18: 37,534,663 (GRCm39)	N219S	probably benign	Het
Pck2	T	A	14: 55,781,449 (GRCm39)	V190E	probably damaging	Het
Pde4b	G	A	4: 102,456,840 (GRCm39)	A429T	probably damaging	Het
Phf1	T	C	17: 27,153,429 (GRCm39)	V54A	probably damaging	Het
Pla2r1	T	C	2: 60,353,127 (GRCm39)	E278G	probably damaging	Het
Ptges3	G	T	10: 127,908,016 (GRCm39)	R122L	probably benign	Het
Rnpepl1	C	T	1: 92,844,881 (GRCm39)	T391I	probably damaging	Het
Rps6kb1	G	A	11: 86,397,633 (GRCm39)	A404V	probably benign	Het
Rrm2b	T	C	15: 37,945,391 (GRCm39)		probably null	Het
Sh3rf1	C	T	8: 61,679,321 (GRCm39)	P121L	probably benign	Het
Skint9	T	G	4: 112,248,148 (GRCm39)	I199L	probably benign	Het
Slc9b2	G	T	3: 135,042,290 (GRCm39)	R523L	probably benign	Het
Slco1c1	T	A	6: 141,477,174 (GRCm39)		probably null	Het
Stox2	T	C	8: 47,645,865 (GRCm39)	T532A	probably damaging	Het
Tbcel	A	G	9: 42,327,248 (GRCm39)	L385P	probably damaging	Het
Tle5	A	G	10: 81,401,474 (GRCm39)	N181D	probably benign	Het
Tmem268	G	A	4: 63,496,149 (GRCm39)		probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Top3a	G	A	11: 60,650,182 (GRCm39)	T122M	probably damaging	Het
Trav7n-4	G	A	14: 53,329,088 (GRCm39)	V33I	probably benign	Het
Ttn	T	G	2: 76,539,551 (GRCm39)	E26151D	possibly damaging	Het
Ttn	C	T	2: 76,687,228 (GRCm39)		probably benign	Het
Tyk2	A	G	9: 21,035,328 (GRCm39)	C195R	possibly damaging	Het
Ugt2b38	T	C	5: 87,558,078 (GRCm39)	K528E	probably damaging	Het
Usp28	T	A	9: 48,937,125 (GRCm39)	D483E	probably benign	Het
Vldlr	A	G	19: 27,220,554 (GRCm39)	D598G	probably damaging	Het
Vmn1r51	T	G	6: 90,106,498 (GRCm39)	I138S	probably damaging	Het
Vps13b	G	A	15: 35,869,541 (GRCm39)	A2682T	probably damaging	Het
Wac	T	A	18: 7,917,568 (GRCm39)	V346E	probably damaging	Het
Zdbf2	T	C	1: 63,347,579 (GRCm39)	V1986A	possibly 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
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
R9653:Crygs	UTSW	16	22,625,304 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- ACTCTATGGTCCCACTCCAG -3'
(R):5'- CCAGAGTTCTGATGACCCTC -3'

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

Posted On

2015-02-18