Mutagenetix > Incidental Mutation

Incidental Mutation 'R5122:Crym'

393349

Institutional Source

Beutler Lab

Gene Symbol

Crym

Ensembl Gene

ENSMUSG00000030905

Gene Name

crystallin, mu

Synonyms

MMRRC Submission

042710-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5122 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119785603-119801212 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119794718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 167 (N167S)

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 benign
Transcript: ENSMUST00000033198
AA Change: N167S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000033198
Gene: ENSMUSG00000030905
AA Change: N167S

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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 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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	C	7: 78,750,409 (GRCm39)	S1727P	probably damaging	Het
Actr8	A	T	14: 29,704,672 (GRCm39)	K57N	possibly damaging	Het
Bcan	G	T	3: 87,901,514 (GRCm39)	S396Y	probably damaging	Het
Bltp1	A	G	3: 37,088,906 (GRCm39)		probably null	Het
Bmp2k	A	G	5: 97,234,874 (GRCm39)		probably benign	Het
Cd274	A	G	19: 29,357,965 (GRCm39)	H219R	possibly damaging	Het
Cdc16	A	T	8: 13,814,570 (GRCm39)	Y118F	probably damaging	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Chchd3	T	C	6: 32,945,240 (GRCm39)	R89G	probably benign	Het
Clstn2	C	T	9: 97,343,474 (GRCm39)	V658M	probably damaging	Het
Cpt1b	A	G	15: 89,308,226 (GRCm39)	S160P	probably benign	Het
Dhx16	T	A	17: 36,194,202 (GRCm39)	Y438N	probably damaging	Het
Dnah12	A	G	14: 26,439,155 (GRCm39)	R536G	probably benign	Het
Dnajc11	A	G	4: 152,061,454 (GRCm39)	D382G	possibly damaging	Het
Dync1h1	G	A	12: 110,596,114 (GRCm39)	G1547D	probably damaging	Het
Eml3	T	A	19: 8,915,060 (GRCm39)		probably null	Het
Ep400	G	A	5: 110,816,036 (GRCm39)	P2799S	probably damaging	Het
Ephb6	T	C	6: 41,590,338 (GRCm39)	V30A	probably benign	Het
Fam53b	T	A	7: 132,380,991 (GRCm39)		probably benign	Het
Fcrl1	A	G	3: 87,293,081 (GRCm39)	K246R	probably benign	Het
Focad	G	A	4: 88,325,602 (GRCm39)		probably null	Het
Glipr1l2	T	C	10: 111,942,961 (GRCm39)	I272T	possibly damaging	Het
Gm8104	A	G	14: 42,966,550 (GRCm39)	I101V	probably benign	Het
Grm5	A	G	7: 87,724,028 (GRCm39)	I773V	probably damaging	Het
Hyal1	A	T	9: 107,455,268 (GRCm39)	T193S	probably benign	Het
Igkv10-94	C	A	6: 68,681,655 (GRCm39)	G62*	probably null	Het
Itsn1	A	G	16: 91,690,732 (GRCm39)		probably benign	Het
Kank4	A	G	4: 98,644,804 (GRCm39)	S983P	probably damaging	Het
Krtap16-1	C	A	11: 99,876,523 (GRCm39)	V294F	probably damaging	Het
Lama3	T	G	18: 12,672,823 (GRCm39)	V866G	possibly damaging	Het
Lrba	C	T	3: 86,256,461 (GRCm39)	R1268*	probably null	Het
Lrriq1	C	T	10: 103,023,314 (GRCm39)	V984I	probably damaging	Het
Macf1	A	C	4: 123,346,085 (GRCm39)	V4136G	probably damaging	Het
Mdn1	A	T	4: 32,670,593 (GRCm39)	E419D	probably damaging	Het
Nedd4l	A	G	18: 65,324,518 (GRCm39)	Y473C	probably damaging	Het
Nod2	G	T	8: 89,390,748 (GRCm39)	D330Y	probably damaging	Het
Nt5c2	C	T	19: 46,878,360 (GRCm39)	C458Y	probably damaging	Het
Numa1	T	C	7: 101,662,976 (GRCm39)	I681T	probably damaging	Het
Or10a5	C	A	7: 106,636,055 (GRCm39)	S231*	probably null	Het
Papolg	C	T	11: 23,817,501 (GRCm39)		probably null	Het
Parn	A	G	16: 13,472,311 (GRCm39)		probably null	Het
Pgap2	T	C	7: 101,880,598 (GRCm39)	F42S	probably damaging	Het
Phf11d	A	T	14: 59,590,793 (GRCm39)	M188K	possibly damaging	Het
Pofut2	G	C	10: 77,104,399 (GRCm39)	R392P	probably damaging	Het
Prpf18	T	C	2: 4,648,520 (GRCm39)	D102G	probably damaging	Het
Rreb1	T	A	13: 38,114,744 (GRCm39)	I701N	probably benign	Het
Slc26a5	T	C	5: 22,052,194 (GRCm39)	K45R	probably damaging	Het
Slc8a3	A	G	12: 81,361,032 (GRCm39)		probably null	Het
Slf1	T	A	13: 77,198,106 (GRCm39)	M723L	probably benign	Het
Spata31e5	A	G	1: 28,819,141 (GRCm39)	S47P	probably benign	Het
Sra1	T	C	18: 36,800,647 (GRCm39)	T187A	probably benign	Het
Stk17b	A	C	1: 53,815,717 (GRCm39)	N27K	probably damaging	Het
Tbc1d9	T	A	8: 83,963,172 (GRCm39)	Y295N	probably damaging	Het
Tubgcp6	A	G	15: 89,000,306 (GRCm39)	V353A	probably damaging	Het
Unc80	A	T	1: 66,718,749 (GRCm39)	T2991S	possibly damaging	Het
Urb1	G	A	16: 90,548,983 (GRCm39)	R2242*	probably null	Het
Vasp	T	C	7: 18,998,697 (GRCm39)	N20S	probably benign	Het
Zfp263	A	G	16: 3,567,719 (GRCm39)	H390R	probably damaging	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
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
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'- ACTTACCATTGATGTGAGCCC -3'
(R):5'- GTGTCCTAGCCCAAAACTGG -3'

Sequencing Primer
(F):5'- CCCGGCTTTACCCATTCAC -3'
(R):5'- TAGCCCAAAACTGGAAAGTATTTACC -3'

Posted On

2016-06-15