Mutagenetix > Incidental Mutation

Incidental Mutation 'R0393:Crym'

31794

Institutional Source

Beutler Lab

Gene Symbol

Crym

Ensembl Gene

ENSMUSG00000030905

Gene Name

crystallin, mu

Synonyms

MMRRC Submission

038599-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0393 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119785603-119801212 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119788972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 285 (K285R)

Ref Sequence

ENSEMBL: ENSMUSP00000033198 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033198] [ENSMUST00000033201]

AlphaFold

O54983

PDB Structure

Crystal structure of the apo form of mouse Mu-crystallin. [X-RAY DIFFRACTION]
Crystal structure of the NADPH form of mouse Mu-crystallin. [X-RAY DIFFRACTION]
Cristal structure of the NADPH-T3 form of mouse Mu-crystallin. [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000033198
AA Change: K285R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000033198
Gene: ENSMUSG00000030905
AA Change: K285R

Domain	Start	End	E-Value	Type
Pfam:OCD_Mu_crystall	3	313	7.1e-113	PFAM
Pfam:Shikimate_DH	124	227	7.1e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000033201

SMART Domains

Protein: ENSMUSP00000033201
Gene: ENSMUSG00000030909

Domain	Start	End	E-Value	Type
ANK	31	60	1.03e-2	SMART
ANK	64	93	6.3e-7	SMART
ANK	97	126	3.69e2	SMART
coiled coil region	131	165	N/A	INTRINSIC
low complexity region	170	189	N/A	INTRINSIC
coiled coil region	303	335	N/A	INTRINSIC
SAM	346	411	6.52e-8	SMART

Meta Mutation Damage Score

0.4648

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

100% (59/59)

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 and ubiquitous. The former class is also called phylogenetically-restricted crystallins. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. This gene encodes a taxon-specific crystallin protein that binds NADPH and has sequence similarity to bacterial ornithine cyclodeaminases. The encoded protein does not perform a structural role in lens tissue, and instead it binds thyroid hormone for possible regulatory or developmental roles. Mutations in this gene have been associated with autosomal dominant non-syndromic deafness. [provided by RefSeq, Sep 2014]
PHENOTYPE: At the euthyroid state, homozygotes display a normal growth curve, heart rate and hearing ability but have significantly reduced serum concentrations of triiodothyronine (T3) and thyroxine (T4). [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	C	T	6: 142,591,604 (GRCm39)		probably benign	Het
Akr1b7	T	G	6: 34,392,335 (GRCm39)	Y49*	probably null	Het
Ankrd10	G	T	8: 11,685,482 (GRCm39)	R46S	possibly damaging	Het
Atp13a5	A	G	16: 29,085,681 (GRCm39)		probably benign	Het
Baz1a	A	G	12: 54,965,221 (GRCm39)		probably null	Het
Bicd2	C	T	13: 49,533,346 (GRCm39)	T644M	probably damaging	Het
Ccr9	A	T	9: 123,609,035 (GRCm39)	H239L	probably benign	Het
Cd180	A	T	13: 102,842,408 (GRCm39)	N485Y	probably damaging	Het
Ces1d	T	A	8: 93,919,400 (GRCm39)	S131C	probably damaging	Het
Cnpy2	T	A	10: 128,162,076 (GRCm39)	S116R	probably benign	Het
Cyp2a4	A	T	7: 26,012,293 (GRCm39)	I359F	possibly damaging	Het
Cyp2b10	T	A	7: 25,614,359 (GRCm39)		probably benign	Het
Dcpp3	A	T	17: 24,136,925 (GRCm39)		probably benign	Het
Dnah8	T	A	17: 30,927,364 (GRCm39)	I1340K	probably benign	Het
Fbln1	T	C	15: 85,111,277 (GRCm39)	C144R	probably damaging	Het
Gm1553	T	C	10: 82,328,010 (GRCm39)	R66G	unknown	Het
Il10rb	G	A	16: 91,208,898 (GRCm39)	V103I	probably benign	Het
Irak1bp1	T	A	9: 82,728,614 (GRCm39)	W182R	probably benign	Het
Kcna3	T	C	3: 106,944,315 (GRCm39)	S193P	probably damaging	Het
Kif14	C	T	1: 136,410,156 (GRCm39)	H628Y	probably damaging	Het
Krt31	A	G	11: 99,941,079 (GRCm39)	L77P	probably damaging	Het
Krt36	C	T	11: 99,994,940 (GRCm39)	A211T	possibly damaging	Het
L3mbtl2	C	T	15: 81,552,942 (GRCm39)	A125V	probably damaging	Het
Lmo7	A	G	14: 102,137,892 (GRCm39)	T743A	probably benign	Het
Lyst	C	T	13: 13,821,664 (GRCm39)	T1346M	probably benign	Het
Mapkbp1	T	A	2: 119,843,384 (GRCm39)		probably null	Het
Mif	T	C	10: 75,695,638 (GRCm39)	D55G	probably benign	Het
Mlh3	G	T	12: 85,314,361 (GRCm39)	C608*	probably null	Het
Mlip	A	T	9: 77,146,859 (GRCm39)	C85S	probably benign	Het
Mug1	T	C	6: 121,826,809 (GRCm39)	S211P	possibly damaging	Het
Mybl2	T	A	2: 162,903,528 (GRCm39)		probably benign	Het
Myh8	C	T	11: 67,196,843 (GRCm39)		probably benign	Het
Nanos1	A	G	19: 60,745,368 (GRCm39)	Y222C	probably damaging	Het
Or10ag52	A	T	2: 87,044,037 (GRCm39)	Y267F	probably benign	Het
Or2n1e	G	T	17: 38,585,774 (GRCm39)	M37I	probably benign	Het
Or5d16	T	C	2: 87,773,909 (GRCm39)	D21G	possibly damaging	Het
Papolb	A	G	5: 142,515,211 (GRCm39)	V144A	probably damaging	Het
Pctp	A	G	11: 89,876,945 (GRCm39)	S185P	probably benign	Het
Plod1	A	T	4: 148,003,298 (GRCm39)	L509Q	probably null	Het
Ppp1r13b	C	A	12: 111,802,122 (GRCm39)	M290I	probably benign	Het
Ralb	G	C	1: 119,405,856 (GRCm39)		probably null	Het
Rxylt1	T	C	10: 121,931,841 (GRCm39)		probably benign	Het
Slc4a8	T	A	15: 100,672,519 (GRCm39)	D18E	probably damaging	Het
Speg	A	C	1: 75,400,568 (GRCm39)	H2576P	possibly damaging	Het
Spock1	T	C	13: 57,588,349 (GRCm39)	D241G	probably damaging	Het
Tcam1	T	A	11: 106,175,040 (GRCm39)	V165E	probably benign	Het
Thbs1	T	A	2: 117,943,472 (GRCm39)	V30E	possibly damaging	Het
Tll2	A	G	19: 41,077,265 (GRCm39)	Y834H	possibly damaging	Het
Trpm6	G	A	19: 18,756,008 (GRCm39)	D84N	probably damaging	Het
Ubr1	T	A	2: 120,737,427 (GRCm39)	Q1039L	probably damaging	Het
Ubr4	A	G	4: 139,138,171 (GRCm39)		probably benign	Het
Vmn1r74	T	C	7: 11,581,242 (GRCm39)	Y181H	possibly damaging	Het
Vmn2r13	T	C	5: 109,304,395 (GRCm39)	T679A	probably benign	Het
Vmn2r91	A	T	17: 18,325,712 (GRCm39)	Y110F	probably damaging	Het
Zbtb40	A	C	4: 136,745,842 (GRCm39)	S64A	probably benign	Het
Zfp184	T	A	13: 22,131,252 (GRCm39)		probably benign	Het

Other mutations in Crym

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01562:Crym	APN	7	119,794,622 (GRCm39)	missense	probably damaging	0.98
IGL03355:Crym	APN	7	119,798,536 (GRCm39)	splice site	probably null
R1538:Crym	UTSW	7	119,796,938 (GRCm39)	missense	probably benign	0.05
R2508:Crym	UTSW	7	119,801,050 (GRCm39)	missense	probably benign	0.08
R3836:Crym	UTSW	7	119,800,439 (GRCm39)	missense	probably benign	0.03
R4328:Crym	UTSW	7	119,794,562 (GRCm39)	missense	probably damaging	1.00
R4723:Crym	UTSW	7	119,800,298 (GRCm39)	critical splice donor site	probably null
R5046:Crym	UTSW	7	119,794,667 (GRCm39)	missense	possibly damaging	0.71
R5122:Crym	UTSW	7	119,794,718 (GRCm39)	missense	probably benign	0.00
R5266:Crym	UTSW	7	119,798,517 (GRCm39)	missense	probably benign	0.00
R5427:Crym	UTSW	7	119,798,445 (GRCm39)	unclassified	probably benign
R5567:Crym	UTSW	7	119,801,116 (GRCm39)	missense	probably benign	0.00
R5570:Crym	UTSW	7	119,801,116 (GRCm39)	missense	probably benign	0.00
R5704:Crym	UTSW	7	119,801,163 (GRCm39)	splice site	probably null
R6835:Crym	UTSW	7	119,785,868 (GRCm39)	missense	probably benign
R7274:Crym	UTSW	7	119,789,742 (GRCm39)	missense	probably benign	0.03
R7536:Crym	UTSW	7	119,800,331 (GRCm39)	missense	probably damaging	1.00
R8062:Crym	UTSW	7	119,800,391 (GRCm39)	missense	probably damaging	1.00
R8281:Crym	UTSW	7	119,801,250 (GRCm39)	unclassified	probably benign
R8940:Crym	UTSW	7	119,794,703 (GRCm39)	missense	probably benign	0.16
R9015:Crym	UTSW	7	119,801,090 (GRCm39)	missense	probably benign
R9324:Crym	UTSW	7	119,789,005 (GRCm39)	missense	probably damaging	0.99
R9740:Crym	UTSW	7	119,794,661 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- CACTGGACTGTCACAAGAACTCAAGG -3'
(R):5'- GCATACCAACTTCTTCACAGACAGGG -3'

Sequencing Primer
(F):5'- gaagaatgtaatccagaacagtcc -3'
(R):5'- GCTGACATCTTTGCTGAGCT -3'

Posted On

2013-04-24