Mutagenetix > Incidental Mutation

Incidental Mutation 'R8753:Crybb3'

663968

Institutional Source

Beutler Lab

Gene Symbol

Crybb3

Ensembl Gene

ENSMUSG00000029352

Gene Name

crystallin, beta B3

Synonyms

MMRRC Submission

068619-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8753 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113223705-113229450 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 113226247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000075440 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076069] [ENSMUST00000076069] [ENSMUST00000117143] [ENSMUST00000118226] [ENSMUST00000119627] [ENSMUST00000120506] [ENSMUST00000131708] [ENSMUST00000136352] [ENSMUST00000140352]

AlphaFold

Q9JJU9

Predicted Effect

probably null
Transcript: ENSMUST00000076069

SMART Domains

Protein: ENSMUSP00000075440
Gene: ENSMUSG00000029352

Domain	Start	End	E-Value	Type
XTALbg	25	107	7.5e-40	SMART
XTALbg	115	197	2.4e-42	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000076069

SMART Domains

Protein: ENSMUSP00000075440
Gene: ENSMUSG00000029352

Domain	Start	End	E-Value	Type
XTALbg	25	107	7.5e-40	SMART
XTALbg	115	197	2.4e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117143

SMART Domains

Protein: ENSMUSP00000113347
Gene: ENSMUSG00000029352

Domain	Start	End	E-Value	Type
XTALbg	25	107	7.5e-40	SMART
XTALbg	115	197	2.4e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118226

SMART Domains

Protein: ENSMUSP00000112618
Gene: ENSMUSG00000029352

Domain	Start	End	E-Value	Type
XTALbg	25	107	7.7e-40	SMART
XTALbg	115	197	2.4e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119627

SMART Domains

Protein: ENSMUSP00000113572
Gene: ENSMUSG00000029352

Domain	Start	End	E-Value	Type
XTALbg	25	107	7.5e-40	SMART
XTALbg	115	197	2.4e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120506

SMART Domains

Protein: ENSMUSP00000112718
Gene: ENSMUSG00000029352

Domain	Start	End	E-Value	Type
XTALbg	25	107	7.5e-40	SMART
XTALbg	115	197	2.4e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131708

SMART Domains

Protein: ENSMUSP00000115758
Gene: ENSMUSG00000029352

Domain	Start	End	E-Value	Type
XTALbg	25	79	8.84e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136352

SMART Domains

Protein: ENSMUSP00000121559
Gene: ENSMUSG00000029352

Domain	Start	End	E-Value	Type
Pfam:Crystall	25	65	2.9e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140352

SMART Domains

Protein: ENSMUSP00000121929
Gene: ENSMUSG00000029352

Domain	Start	End	E-Value	Type
XTALbg	25	119	7.78e-30	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

95% (59/62)

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. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B2. Mutations in this gene result in cataract congenital nuclear autosomal recessive type 2. [provided by RefSeq, Feb 2013]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	C	2: 25,332,706 (GRCm39)	Y1496H	probably damaging	Het
Acan	G	A	7: 78,748,516 (GRCm39)	E1096K	possibly damaging	Het
Adprhl1	T	C	8: 13,272,118 (GRCm39)	K1547E	possibly damaging	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Arf4	T	A	14: 26,374,114 (GRCm39)		probably benign	Het
Boc	A	T	16: 44,320,775 (GRCm39)	M295K		Het
C2cd3	T	A	7: 100,049,024 (GRCm39)		probably null	Het
Calcrl	C	G	2: 84,178,659 (GRCm39)	G223A	probably benign	Het
Calcrl	C	A	2: 84,178,661 (GRCm39)	M222I	probably benign	Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Ccz1	A	G	5: 143,925,050 (GRCm39)	C469R	probably benign	Het
Cdc40	C	T	10: 40,717,480 (GRCm39)	D404N	probably damaging	Het
Clpx	G	A	9: 65,223,958 (GRCm39)	G251S	probably damaging	Het
Col6a3	C	G	1: 90,695,328 (GRCm39)		probably benign	Het
Cpox	T	A	16: 58,498,391 (GRCm39)	M408K	probably damaging	Het
Cubn	A	T	2: 13,313,377 (GRCm39)	C3064*	probably null	Het
Cxcl3	CCTGCTGCTGCTGCTG	CCTGCTGCTGCTG	5: 90,934,071 (GRCm39)		probably benign	Het
Cyp4a31	A	T	4: 115,432,158 (GRCm39)	S432C	probably benign	Het
Ddias	A	T	7: 92,508,668 (GRCm39)	F416I	probably damaging	Het
Dlat	G	T	9: 50,560,967 (GRCm39)	A360E	probably damaging	Het
Dnttip2	A	G	3: 122,074,398 (GRCm39)	T612A	probably damaging	Het
Fnip1	A	G	11: 54,400,867 (GRCm39)	T1089A	probably damaging	Het
Gm12117	A	T	11: 33,225,953 (GRCm39)	L128M	probably benign	Het
Gtf2h5	C	CA	17: 6,134,833 (GRCm39)		probably null	Het
Ibtk	T	C	9: 85,610,819 (GRCm39)	T285A	probably benign	Het
Ifi206	A	T	1: 173,301,223 (GRCm39)	N818K	unknown	Het
Itga10	T	G	3: 96,558,471 (GRCm39)	L305R	probably damaging	Het
Khnyn	T	C	14: 56,125,223 (GRCm39)	Y461H	possibly damaging	Het
Macroh2a2	T	C	10: 61,585,113 (GRCm39)	D177G	possibly damaging	Het
Mbtps1	T	C	8: 120,235,601 (GRCm39)	S1026G	possibly damaging	Het
Msantd4	A	G	9: 4,385,013 (GRCm39)	E246G	probably damaging	Het
N4bp1	T	C	8: 87,575,085 (GRCm39)	I737V	probably damaging	Het
Nav2	T	G	7: 49,102,320 (GRCm39)	S373A	probably benign	Het
Nbea	T	C	3: 55,534,329 (GRCm39)	Y2936C	probably damaging	Het
Nbeal1	A	T	1: 60,307,542 (GRCm39)	I1685F	probably damaging	Het
Nt5c3	C	G	6: 56,860,677 (GRCm39)	G293R	probably damaging	Het
Or4f14c	A	T	2: 111,940,802 (GRCm39)	V265E	probably benign	Het
Or52z1	T	A	7: 103,436,567 (GRCm39)	I306F	probably benign	Het
Pcnx2	A	T	8: 126,613,999 (GRCm39)	V484E	probably benign	Het
Pcsk5	C	T	19: 17,446,408 (GRCm39)	R1195Q	probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pitpnm3	A	G	11: 71,942,704 (GRCm39)	V861A	probably benign	Het
Pkd1	A	G	17: 24,793,176 (GRCm39)	Y1621C	probably damaging	Het
Polr3a	C	A	14: 24,513,702 (GRCm39)	E846*	probably null	Het
Polr3e	T	C	7: 120,539,540 (GRCm39)	V455A	possibly damaging	Het
Prr5l	C	T	2: 101,571,723 (GRCm39)	G118D	probably damaging	Het
Pygl	G	T	12: 70,242,400 (GRCm39)	N685K	probably damaging	Het
Rfx8	A	G	1: 39,757,600 (GRCm39)	V56A	probably damaging	Het
Sbf1	T	C	15: 89,179,662 (GRCm39)	D1341G	probably benign	Het
Selenon	T	C	4: 134,275,330 (GRCm39)	T123A	probably benign	Het
Slc23a1	T	G	18: 35,752,631 (GRCm39)	K549Q	probably benign	Het
Slc7a13	T	C	4: 19,841,443 (GRCm39)	F430S	probably damaging	Het
Smarcc2	G	A	10: 128,319,070 (GRCm39)	V707M	probably damaging	Het
St18	A	G	1: 6,916,015 (GRCm39)	S887G	probably damaging	Het
T2	T	C	17: 8,615,477 (GRCm39)		probably benign	Het
Tbc1d16	A	G	11: 119,101,492 (GRCm39)	L6P	probably damaging	Het
Tcf7l2	T	C	19: 55,920,195 (GRCm39)	L576P	possibly damaging	Het
Tnr	A	G	1: 159,677,936 (GRCm39)	D107G	probably benign	Het
Trpv1	G	T	11: 73,135,082 (GRCm39)	K426N	probably damaging	Het
Vmn1r15	A	T	6: 57,235,895 (GRCm39)	L254F	probably benign	Het
Vmn1r219	A	T	13: 23,347,191 (GRCm39)	I127F	probably damaging	Het
Zc3h14	A	T	12: 98,724,831 (GRCm39)	E164D	probably benign	Het

Other mutations in Crybb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01397:Crybb3	APN	5	113,227,701 (GRCm39)	missense	probably damaging	0.99
R0125:Crybb3	UTSW	5	113,227,675 (GRCm39)	missense	possibly damaging	0.70
R0279:Crybb3	UTSW	5	113,227,619 (GRCm39)	splice site	probably null
R0360:Crybb3	UTSW	5	113,223,819 (GRCm39)	missense	probably damaging	0.99
R0364:Crybb3	UTSW	5	113,223,819 (GRCm39)	missense	probably damaging	0.99
R1083:Crybb3	UTSW	5	113,228,444 (GRCm39)	utr 5 prime	probably benign
R1687:Crybb3	UTSW	5	113,227,633 (GRCm39)	missense	probably damaging	1.00
R4031:Crybb3	UTSW	5	113,227,735 (GRCm39)	missense	probably damaging	1.00
R7719:Crybb3	UTSW	5	113,223,834 (GRCm39)	missense	probably damaging	1.00
R8155:Crybb3	UTSW	5	113,225,466 (GRCm39)	missense	probably damaging	1.00
R8334:Crybb3	UTSW	5	113,223,845 (GRCm39)	missense	possibly damaging	0.48
R9114:Crybb3	UTSW	5	113,225,407 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGGCAGATTCTTCTTGCCCC -3'
(R):5'- TACCAATGAGTCCCCAGAGC -3'

Sequencing Primer
(F):5'- CCACACCATTGTTGAGGTCAG -3'
(R):5'- CTAACAGCAGGCACAGGGGTC -3'

Posted On

2021-03-08