Mutagenetix > Incidental Mutation

Incidental Mutation 'R4328:Crym'

324468

Institutional Source

Beutler Lab

Gene Symbol

Crym

Ensembl Gene

ENSMUSG00000030905

Gene Name

crystallin, mu

Synonyms

MMRRC Submission

041098-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4328 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119785603-119801212 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 119794562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 219 (G219E)

Ref Sequence

ENSEMBL: ENSMUSP00000033198 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000033198
AA Change: G219E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033198
Gene: ENSMUSG00000030905
AA Change: G219E

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

noncoding transcript
Transcript: ENSMUST00000134067

Meta Mutation Damage Score

0.9585

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (56/57)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300009A05Rik	T	C	9: 63,306,238 (GRCm39)	K89R	probably damaging	Het
Aadacl4fm2	T	A	4: 144,282,164 (GRCm39)	K209N	possibly damaging	Het
Alcam	T	C	16: 52,073,579 (GRCm39)	N549S	possibly damaging	Het
Arap2	A	T	5: 62,779,206 (GRCm39)	H1461Q	possibly damaging	Het
Bin3	A	G	14: 70,356,054 (GRCm39)	I4V	probably benign	Het
Brd10	G	T	19: 29,720,961 (GRCm39)	T688K	probably benign	Het
C9orf72	T	A	4: 35,225,985 (GRCm39)		probably benign	Het
Cd55	C	T	1: 130,375,104 (GRCm39)		probably benign	Het
Cd55	A	T	1: 130,380,220 (GRCm39)	C253S	probably damaging	Het
Col12a1	T	A	9: 79,607,671 (GRCm39)	T386S	possibly damaging	Het
Col13a1	T	C	10: 61,699,758 (GRCm39)	T476A	unknown	Het
Cwf19l2	A	T	9: 3,458,878 (GRCm39)	I776F	probably damaging	Het
Eif1ad16	T	A	12: 87,985,285 (GRCm39)	D86V	possibly damaging	Het
Erlec1	C	T	11: 30,899,972 (GRCm39)	E166K	probably benign	Het
Gm3336	C	T	8: 71,173,234 (GRCm39)	T82I	probably benign	Het
Gm3604	A	T	13: 62,517,079 (GRCm39)	S425R	possibly damaging	Het
Gpn2	T	C	4: 133,315,919 (GRCm39)	V203A	probably benign	Het
Gskip	T	C	12: 105,666,960 (GRCm39)	Y113H	probably damaging	Het
Hcn2	T	C	10: 79,560,445 (GRCm39)	Y259H	probably damaging	Het
Hira	C	A	16: 18,715,362 (GRCm39)	Q87K	probably benign	Het
Ip6k2	G	A	9: 108,682,847 (GRCm39)	R319Q	probably benign	Het
Kirrel1	T	C	3: 86,992,081 (GRCm39)		probably benign	Het
Klhl40	A	G	9: 121,607,956 (GRCm39)	D372G	probably benign	Het
Lingo2	T	A	4: 35,708,462 (GRCm39)	D506V	probably damaging	Het
Ly6e	C	A	15: 74,830,370 (GRCm39)	N73K	probably damaging	Het
Med12l	T	C	3: 59,172,688 (GRCm39)	S1813P	probably benign	Het
Med24	A	G	11: 98,597,942 (GRCm39)		probably null	Het
Niban1	T	C	1: 151,512,169 (GRCm39)	S24P	possibly damaging	Het
Nup210l	C	A	3: 90,083,142 (GRCm39)		probably null	Het
Or2t1	T	A	14: 14,328,193 (GRCm38)	F27L	probably damaging	Het
Or5w12	C	A	2: 87,502,008 (GRCm39)	R234S	possibly damaging	Het
Or7g34	T	A	9: 19,478,318 (GRCm39)	M121L	possibly damaging	Het
Or8d1	T	C	9: 38,767,132 (GRCm39)	M258T	possibly damaging	Het
Pafah1b1	T	C	11: 74,573,066 (GRCm39)	T333A	probably benign	Het
Pak3	T	C	X: 142,516,205 (GRCm39)		probably null	Het
Palm	G	A	10: 79,643,520 (GRCm39)	G83S	probably benign	Het
Pax8	A	G	2: 24,331,663 (GRCm39)	F140S	possibly damaging	Het
Ppargc1b	A	T	18: 61,515,540 (GRCm39)	C34*	probably null	Het
Ppp3cb	A	T	14: 20,581,016 (GRCm39)	I136K	probably damaging	Het
Prep	T	C	10: 44,996,745 (GRCm39)	V341A	probably benign	Het
Prickle4	C	A	17: 47,999,543 (GRCm39)	G337C	probably damaging	Het
Rabgap1	T	A	2: 37,422,627 (GRCm39)	Y627N	probably damaging	Het
Ryr1	T	C	7: 28,782,484 (GRCm39)	Y1953C	probably damaging	Het
Snrnp200	T	A	2: 127,064,137 (GRCm39)	V708D	probably damaging	Het
Tent5b	C	T	4: 133,213,914 (GRCm39)	Q262*	probably null	Het
Tmem107	G	T	11: 68,962,301 (GRCm39)		probably null	Het
Tmem62	T	A	2: 120,810,991 (GRCm39)	N156K	probably damaging	Het
Ttyh1	A	T	7: 4,133,580 (GRCm39)	D295V	probably damaging	Het
Twsg1	T	C	17: 66,255,733 (GRCm39)	T14A	probably benign	Het
Zfp184	T	C	13: 22,144,072 (GRCm39)	Y593H	probably damaging	Het
Zfp239	T	C	6: 117,848,745 (GRCm39)	L161P	probably damaging	Het
Zpbp2	A	G	11: 98,448,432 (GRCm39)	T199A	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
R0393:Crym	UTSW	7	119,788,972 (GRCm39)	missense	probably benign	0.00
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
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'- GACACCCATCCTTTCGTAGC -3'
(R):5'- TGAGAATGTGGAACCGCAC -3'

Sequencing Primer
(F):5'- CAAGTTCTCTGTAAGTAGCCCAGG -3'
(R):5'- CCGCACCAGGGAAAATGCTG -3'

Posted On

2015-06-24