Mutagenetix > Incidental Mutation

Incidental Mutation 'R4031:Crybb3'

313487

Institutional Source

Beutler Lab

Gene Symbol

Crybb3

Ensembl Gene

ENSMUSG00000029352

Gene Name

crystallin, beta B3

Synonyms

MMRRC Submission

040960-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4031 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113223705-113229450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113227735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 29 (Y29H)

Ref Sequence

ENSEMBL: ENSMUSP00000112718 (fasta)

Gene Model

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

AlphaFold

Q9JJU9

Predicted Effect

probably damaging
Transcript: ENSMUST00000076069
AA Change: Y29H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000075440
Gene: ENSMUSG00000029352
AA Change: Y29H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000117143
AA Change: Y29H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113347
Gene: ENSMUSG00000029352
AA Change: Y29H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000118226
AA Change: Y29H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112618
Gene: ENSMUSG00000029352
AA Change: Y29H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000119627
AA Change: Y29H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113572
Gene: ENSMUSG00000029352
AA Change: Y29H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000120506
AA Change: Y29H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112718
Gene: ENSMUSG00000029352
AA Change: Y29H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000131708
AA Change: Y29H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115758
Gene: ENSMUSG00000029352
AA Change: Y29H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134039

Predicted Effect

probably damaging
Transcript: ENSMUST00000136352
AA Change: Y29H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000121559
Gene: ENSMUSG00000029352
AA Change: Y29H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000140352
AA Change: Y29H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121929
Gene: ENSMUSG00000029352
AA Change: Y29H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153382

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155042

Meta Mutation Damage Score

0.7342

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.7%

Validation Efficiency

95% (52/55)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	G	T	8: 87,244,077 (GRCm39)	F1025L	probably damaging	Het
Acss2	C	T	2: 155,399,130 (GRCm39)	T477I	probably damaging	Het
Aplp2	G	A	9: 31,069,026 (GRCm39)	P601L	probably benign	Het
Arl2bp	T	C	8: 95,394,281 (GRCm39)	I32T	probably damaging	Het
Avpi1	C	A	19: 42,113,180 (GRCm39)		probably benign	Het
C030005K15Rik	T	C	10: 97,561,404 (GRCm39)	Y109C	unknown	Het
Ccdc150	T	A	1: 54,317,970 (GRCm39)	M303K	probably benign	Het
Chrna5	T	C	9: 54,905,370 (GRCm39)	W61R	probably damaging	Het
Copa	T	C	1: 171,935,942 (GRCm39)	V428A	probably damaging	Het
Dcun1d4	A	G	5: 73,691,980 (GRCm39)	D89G	probably damaging	Het
Disp2	T	C	2: 118,622,361 (GRCm39)	I1031T	probably benign	Het
Elf1	A	C	14: 79,806,723 (GRCm39)	K161Q	probably damaging	Het
Fndc1	A	T	17: 7,988,584 (GRCm39)	Y1159*	probably null	Het
Hspa12a	T	C	19: 58,789,289 (GRCm39)	N449S	probably benign	Het
Hyal4	A	G	6: 24,756,223 (GRCm39)	E147G	probably damaging	Het
Hydin	T	C	8: 111,336,679 (GRCm39)	I5152T	probably benign	Het
Ighv9-1	C	T	12: 114,057,844 (GRCm39)	A19T	probably benign	Het
Kcnt1	T	G	2: 25,806,060 (GRCm39)	S1216R	possibly damaging	Het
Kdm5d	T	A	Y: 916,910 (GRCm39)	V435E	probably damaging	Het
Klhl30	G	A	1: 91,288,879 (GRCm39)	R546H	probably benign	Het
Lrp1b	C	T	2: 40,592,860 (GRCm39)	G3753D	probably benign	Het
Ltbp3	G	A	19: 5,804,050 (GRCm39)	R854Q	probably benign	Het
Macf1	A	G	4: 123,275,105 (GRCm39)	L6303P	probably damaging	Het
Mblac2	T	C	13: 81,898,208 (GRCm39)	S195P	possibly damaging	Het
Mindy3	A	C	2: 12,405,894 (GRCm39)		probably null	Het
Neurod1	C	T	2: 79,284,370 (GRCm39)	D338N	probably benign	Het
Polr1e	A	T	4: 45,018,685 (GRCm39)	E5V	probably benign	Het
Polr2b	G	A	5: 77,496,252 (GRCm39)	R1141H	possibly damaging	Het
Ppp2r2a	T	C	14: 67,266,425 (GRCm39)	S79G	probably damaging	Het
Psmd2	G	A	16: 20,481,955 (GRCm39)	G896D	probably damaging	Het
Rap1gds1	T	C	3: 138,756,353 (GRCm39)		probably benign	Het
Rsph10b	A	G	5: 143,922,486 (GRCm39)		probably null	Het
Slc26a10	A	G	10: 127,013,871 (GRCm39)	V297A	possibly damaging	Het
Slc26a5	T	C	5: 22,052,189 (GRCm39)	K47E	probably damaging	Het
Slurp1	T	C	15: 74,599,336 (GRCm39)	E58G	probably damaging	Het
Spo11	T	A	2: 172,828,625 (GRCm39)		probably benign	Het
Tm9sf4	T	C	2: 153,040,264 (GRCm39)		probably benign	Het
Trak1	T	C	9: 121,280,736 (GRCm39)	I272T	probably damaging	Het
Tshz1	T	C	18: 84,032,954 (GRCm39)	K485E	possibly damaging	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Unc79	T	A	12: 103,039,018 (GRCm39)	S671T	possibly damaging	Het
Usp43	G	T	11: 67,804,659 (GRCm39)	A186D	probably damaging	Het
Vmn2r107	G	A	17: 20,595,483 (GRCm39)	V679I	probably benign	Het
Vsig10l	C	T	7: 43,114,798 (GRCm39)	A333V	probably damaging	Het
Vwa3a	G	A	7: 120,367,455 (GRCm39)		probably null	Het
Wdr49	C	A	3: 75,230,972 (GRCm39)	L563F	probably benign	Het
Wnk1	T	C	6: 119,928,029 (GRCm39)	T1141A	probably damaging	Het
Zfp236	T	A	18: 82,642,590 (GRCm39)	E1052V	probably damaging	Het
Zfp317	A	T	9: 19,558,008 (GRCm39)	H163L	possibly damaging	Het
Zfp975	G	A	7: 42,312,377 (GRCm39)	Q79*	probably null	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
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
R8753:Crybb3	UTSW	5	113,226,247 (GRCm39)	critical splice donor site	probably null
R9114:Crybb3	UTSW	5	113,225,407 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTGGATTGGGCCTCACAATG -3'
(R):5'- ATTTTCTGAGGCTGCCCTG -3'

Sequencing Primer
(F):5'- CTCACAATGCAGGAAGCCGG -3'
(R):5'- AGTTGCTCACTGAGGTCAC -3'

Posted On

2015-04-30