Mutagenetix > Incidental Mutation

Incidental Mutation 'R6268:Crygn'

507144

Institutional Source

Beutler Lab

Gene Symbol

Crygn

Ensembl Gene

ENSMUSG00000038135

Gene Name

crystallin, gamma N

Synonyms

MMRRC Submission

044439-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R6268 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24956000-24962846 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24961189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 39 (V39E)

Ref Sequence

ENSEMBL: ENSMUSP00000035860 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047119]

AlphaFold

Q8VHL5

Predicted Effect

probably damaging
Transcript: ENSMUST00000047119
AA Change: V39E

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

SMART Domains

Protein: ENSMUSP00000035860
Gene: ENSMUSG00000038135
AA Change: V39E

Domain	Start	End	E-Value	Type
XTALbg	7	88	1.14e-36	SMART
XTALbg	96	179	5.94e-35	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123386

Meta Mutation Damage Score

0.9407

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

Validation Efficiency

99% (68/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the crystallin family of proteins that are localized to the refractive structure of vertebrate eye lenses. The protein encoded by this gene is unique in that it has both beta and gamma crystallin protein motifs. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a conditional allele activated in rhombomeres 3 and 5 derived neurons exhibit reduced MNTB volumne between P4 and P25 with increase in the amplitude of wave IV ABR. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	G	2: 19,545,219 (GRCm39)	I78T	probably benign	Het
Afg3l1	A	T	8: 124,219,665 (GRCm39)	I398F	probably damaging	Het
Ahctf1	T	C	1: 179,591,048 (GRCm39)	H1244R	probably benign	Het
Ank1	A	T	8: 23,599,687 (GRCm39)	K797N	probably damaging	Het
Anxa6	G	T	11: 54,877,903 (GRCm39)		probably null	Het
Aoc1l1	T	A	6: 48,954,616 (GRCm39)	Y585N	probably benign	Het
Ap1b1	T	A	11: 4,969,493 (GRCm39)	V310E	probably damaging	Het
C2cd2l	T	C	9: 44,228,963 (GRCm39)	I123V	probably damaging	Het
Cars2	TCCCC	TCCC	8: 11,579,599 (GRCm39)		probably null	Het
Cfap54	T	A	10: 92,874,771 (GRCm39)	I542F	probably damaging	Het
Cfap57	G	T	4: 118,426,648 (GRCm39)	Y1100*	probably null	Het
Coq9	A	G	8: 95,576,862 (GRCm39)	E158G	probably benign	Het
Cox15	A	T	19: 43,728,365 (GRCm39)	W303R	possibly damaging	Het
Cpa5	A	G	6: 30,615,172 (GRCm39)	Y103C	probably damaging	Het
Csf1	G	T	3: 107,654,473 (GRCm39)	S132R	possibly damaging	Het
Dapk1	G	A	13: 60,909,580 (GRCm39)	V1398M	possibly damaging	Het
Degs2	C	A	12: 108,658,839 (GRCm39)	V47L	probably damaging	Het
Dock5	C	A	14: 68,027,724 (GRCm39)	E1057*	probably null	Het
Dsg1b	C	A	18: 20,521,220 (GRCm39)	Q26K	probably benign	Het
Elp1	T	C	4: 56,762,305 (GRCm39)	Y1098C	probably damaging	Het
Fam181a	T	C	12: 103,282,803 (GRCm39)	V236A	possibly damaging	Het
Fam78b	C	A	1: 166,906,122 (GRCm39)	P94T	probably damaging	Het
Fbxw25	T	G	9: 109,483,718 (GRCm39)	T165P	probably damaging	Het
Flg	C	A	3: 93,195,482 (GRCm39)		probably benign	Het
Frrs1	G	T	3: 116,696,748 (GRCm39)	V573F	probably damaging	Het
Gm7298	A	G	6: 121,756,032 (GRCm39)	T964A	possibly damaging	Het
Hoxd9	G	T	2: 74,528,433 (GRCm39)	V12L	probably damaging	Het
Kcnt1	A	G	2: 25,793,609 (GRCm39)		probably null	Het
Klhl3	G	T	13: 58,161,656 (GRCm39)	R480S	probably damaging	Het
Klhl36	A	G	8: 120,597,406 (GRCm39)	D369G	probably damaging	Het
Lama3	T	A	18: 12,657,794 (GRCm39)	N303K	probably damaging	Het
Lhcgr	T	C	17: 89,050,132 (GRCm39)	T465A	probably damaging	Het
Llgl1	T	C	11: 60,602,989 (GRCm39)	V888A	probably benign	Het
Lrp1b	T	A	2: 40,711,729 (GRCm39)	T3164S	probably benign	Het
Mmp3	T	G	9: 7,447,622 (GRCm39)	D202E	possibly damaging	Het
Mocs1	C	A	17: 49,742,183 (GRCm39)	T104K	probably damaging	Het
Mrpl42	A	T	10: 95,332,569 (GRCm39)		probably null	Het
Mtch2	T	C	2: 90,693,992 (GRCm39)	C279R	probably benign	Het
Muc4	A	T	16: 32,589,141 (GRCm39)	D2836V	probably damaging	Het
Myh7	T	C	14: 55,226,741 (GRCm39)	E370G	probably benign	Het
Naa11	A	G	5: 97,540,069 (GRCm39)	Y30H	probably damaging	Het
Ntng1	T	C	3: 109,842,351 (GRCm39)	T141A	probably damaging	Het
Or5h26	A	C	16: 58,987,656 (GRCm39)		probably null	Het
Or8c11	T	C	9: 38,289,384 (GRCm39)	I69T	probably benign	Het
Or9i14	A	T	19: 13,792,671 (GRCm39)	Y94*	probably null	Het
Pcdha12	G	A	18: 37,155,477 (GRCm39)	C732Y	possibly damaging	Het
Plekhm2	G	A	4: 141,359,652 (GRCm39)	Q392*	probably null	Het
Prr22	G	A	17: 57,078,587 (GRCm39)	V247M	probably damaging	Het
Rapgef6	T	A	11: 54,540,073 (GRCm39)	L716Q	probably damaging	Het
Rasgrp4	G	A	7: 28,842,493 (GRCm39)	V246I	probably damaging	Het
Rhbdd2	C	T	5: 135,672,114 (GRCm39)	T323I	probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Homo
Scgb2b20	A	T	7: 33,063,973 (GRCm39)	I99K	possibly damaging	Het
Scyl3	C	T	1: 163,773,786 (GRCm39)	R324*	probably null	Het
Slc23a1	T	C	18: 35,752,624 (GRCm39)	Y551C	probably damaging	Het
Slc5a5	A	T	8: 71,341,264 (GRCm39)	S358R	probably damaging	Het
Sorcs3	T	A	19: 48,778,605 (GRCm39)	N1007K	probably damaging	Het
Stxbp4	T	A	11: 90,431,027 (GRCm39)	K428*	probably null	Het
Tmem63c	T	A	12: 87,128,727 (GRCm39)	I584N	probably damaging	Het
Traf3ip3	C	T	1: 192,880,344 (GRCm39)		probably benign	Het
Trgv2	G	A	13: 19,521,001 (GRCm39)	T31I	probably benign	Het
Ttll3	C	T	6: 113,369,524 (GRCm39)	R23C	probably benign	Het
Ugt2a3	A	C	5: 87,477,472 (GRCm39)	L309R	probably damaging	Het
Urb1	A	G	16: 90,550,807 (GRCm39)	M2015T	probably benign	Het
Vmn2r14	A	C	5: 109,369,283 (GRCm39)	S97A	possibly damaging	Het
Vps13c	C	A	9: 67,858,731 (GRCm39)	T2727K	probably benign	Het
Xrn1	T	A	9: 95,846,067 (GRCm39)	I40K	probably damaging	Het
Zc3h11a	A	G	1: 133,552,295 (GRCm39)	V604A	probably benign	Het
Zfp410	G	A	12: 84,378,612 (GRCm39)	R259H	probably benign	Het
Zfp748	A	G	13: 67,690,705 (GRCm39)	V185A	possibly damaging	Het

Other mutations in Crygn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0195:Crygn	UTSW	5	24,961,036 (GRCm39)	missense	possibly damaging	0.82
R1199:Crygn	UTSW	5	24,956,146 (GRCm39)	missense	probably damaging	1.00
R4665:Crygn	UTSW	5	24,956,019 (GRCm39)	utr 3 prime	probably benign
R5199:Crygn	UTSW	5	24,961,156 (GRCm39)	missense	probably damaging	0.96
R7337:Crygn	UTSW	5	24,961,147 (GRCm39)	missense	possibly damaging	0.83
R7832:Crygn	UTSW	5	24,961,072 (GRCm39)	missense	probably benign	0.09
R8136:Crygn	UTSW	5	24,956,090 (GRCm39)	missense	probably benign	0.01
R9591:Crygn	UTSW	5	24,961,073 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTGACCTTCCACTACTTAAGCTGC -3'
(R):5'- TGCTAAGTACACCCATGCAC -3'

Sequencing Primer
(F):5'- CCATTCCAGCGGAAGAAT -3'
(R):5'- CACATGTGAGTGTGTGTGTG -3'

Posted On

2018-03-15