Mutagenetix > Incidental Mutation

Incidental Mutation 'R8535:Crybg2'

659199

Institutional Source

Beutler Lab

Gene Symbol

Crybg2

Ensembl Gene

ENSMUSG00000012123

Gene Name

crystallin beta-gamma domain containing 2

Synonyms

Aim1l

MMRRC Submission

068504-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.876) question?

Stock #

R8535 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

133788126-133819815 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133808514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1372 (S1372P)

Ref Sequence

ENSEMBL: ENSMUSP00000154159 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000121391] [ENSMUST00000149956] [ENSMUST00000227683]

AlphaFold

A0A2I3BQG2

Predicted Effect

probably damaging
Transcript: ENSMUST00000121391
AA Change: S1063P

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

SMART Domains

Protein: ENSMUSP00000114099
Gene: ENSMUSG00000012123
AA Change: S1063P

Domain	Start	End	E-Value	Type
low complexity region	171	205	N/A	INTRINSIC
low complexity region	210	226	N/A	INTRINSIC
low complexity region	414	443	N/A	INTRINSIC
low complexity region	560	582	N/A	INTRINSIC
low complexity region	608	625	N/A	INTRINSIC
coiled coil region	683	703	N/A	INTRINSIC
low complexity region	812	824	N/A	INTRINSIC
XTALbg	842	921	2.56e-7	SMART
XTALbg	929	1010	9.33e-10	SMART
XTALbg	1024	1110	5.06e-29	SMART
XTALbg	1118	1199	1.4e-22	SMART
XTALbg	1212	1291	2.22e-16	SMART
XTALbg	1299	1379	1.69e-16	SMART
RICIN	1383	1514	7.89e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000149956
AA Change: S101P

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

SMART Domains

Protein: ENSMUSP00000123349
Gene: ENSMUSG00000012123
AA Change: S101P

Domain	Start	End	E-Value	Type
XTALbg	1	60	1.39e-2	SMART
XTALbg	62	148	3.99e-27	SMART
XTALbg	156	237	1.4e-22	SMART
XTALbg	250	293	7.78e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000227683
AA Change: S1372P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	T	11: 54,229,328 (GRCm39)	I362F	probably damaging	Het
Anks1b	T	A	10: 90,784,493 (GRCm39)	S1154T	probably benign	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Chd7	T	A	4: 8,859,211 (GRCm39)	S2434T	possibly damaging	Het
Dock5	A	G	14: 68,031,425 (GRCm39)	Y1002H	probably benign	Het
Dst	T	C	1: 34,225,082 (GRCm39)	S1163P	probably damaging	Het
Fah	A	T	7: 84,250,305 (GRCm39)	S14T	probably benign	Het
Gcnt7	T	C	2: 172,296,466 (GRCm39)	I119M	possibly damaging	Het
Gja10	G	A	4: 32,602,274 (GRCm39)	L37F	probably damaging	Het
Gm10750	A	G	2: 148,857,888 (GRCm39)	V121A	unknown	Het
Klhl25	G	A	7: 75,515,843 (GRCm39)	V250I	probably benign	Het
Kmt2a	A	C	9: 44,730,812 (GRCm39)	S200R	possibly damaging	Het
Map1b	T	A	13: 99,571,662 (GRCm39)	D353V	probably damaging	Het
Myh8	G	A	11: 67,169,741 (GRCm39)	R20Q	probably damaging	Het
Or4c127	G	A	2: 89,833,511 (GRCm39)	V254M	probably benign	Het
Or6c200-ps1	T	C	10: 128,869,892 (GRCm39)	Y273C	probably damaging	Het
Pcnt	G	A	10: 76,256,039 (GRCm39)	R734W	probably damaging	Het
Pkn3	A	T	2: 29,969,936 (GRCm39)		probably null	Het
Ptpn21	T	A	12: 98,646,285 (GRCm39)	T1058S	probably damaging	Het
Ryr3	A	G	2: 112,779,433 (GRCm39)		probably null	Het
Sardh	T	A	2: 27,129,657 (GRCm39)	I263F	probably damaging	Het
Scart1	G	A	7: 139,804,634 (GRCm39)	V546M	probably benign	Het
Sh3bp5	A	G	14: 31,139,375 (GRCm39)	V66A	probably benign	Het
Styxl2	T	C	1: 165,928,730 (GRCm39)	D294G	probably benign	Het
Taf4b	T	A	18: 14,955,195 (GRCm39)	S583T	probably damaging	Het
Tbcb	G	A	7: 29,926,421 (GRCm39)	P132L	probably benign	Het
Tcirg1	A	G	19: 3,946,324 (GRCm39)	I791T	probably damaging	Het
Tmeff2	T	A	1: 51,220,985 (GRCm39)	V320D	probably damaging	Het
Tnfrsf19	T	C	14: 61,208,417 (GRCm39)	E368G	probably benign	Het
Trdv2-1	T	A	14: 54,183,972 (GRCm39)	I67N	probably damaging	Het
Unc13c	G	A	9: 73,447,653 (GRCm39)	T1849I	probably benign	Het
Vav2	G	A	2: 27,161,841 (GRCm39)	T655I	probably damaging	Het
Vps50	T	C	6: 3,565,612 (GRCm39)	Y517H	possibly damaging	Het
Wdr27	G	A	17: 15,123,799 (GRCm39)	T558I	possibly damaging	Het
Yeats2	C	T	16: 19,977,926 (GRCm39)	R137W	probably damaging	Het

Other mutations in Crybg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01083:Crybg2	APN	4	133,802,755 (GRCm39)	missense	possibly damaging	0.57
IGL01147:Crybg2	APN	4	133,816,575 (GRCm39)	splice site	probably null
IGL02003:Crybg2	APN	4	133,799,767 (GRCm39)	missense	probably benign
IGL02468:Crybg2	APN	4	133,809,898 (GRCm39)	missense	probably damaging	1.00
R0089:Crybg2	UTSW	4	133,808,505 (GRCm39)	missense	probably damaging	1.00
R0414:Crybg2	UTSW	4	133,799,947 (GRCm39)	small deletion	probably benign
R0579:Crybg2	UTSW	4	133,800,049 (GRCm39)	missense	probably damaging	0.97
R0634:Crybg2	UTSW	4	133,802,615 (GRCm39)	splice site	probably benign
R0638:Crybg2	UTSW	4	133,801,765 (GRCm39)	missense	probably damaging	1.00
R0686:Crybg2	UTSW	4	133,801,837 (GRCm39)	small deletion	probably benign
R1583:Crybg2	UTSW	4	133,808,770 (GRCm39)	missense	probably damaging	1.00
R1651:Crybg2	UTSW	4	133,802,214 (GRCm39)	missense	probably benign	0.07
R1651:Crybg2	UTSW	4	133,802,136 (GRCm39)	missense	possibly damaging	0.84
R1752:Crybg2	UTSW	4	133,800,961 (GRCm39)	missense	probably damaging	0.96
R1883:Crybg2	UTSW	4	133,801,594 (GRCm39)	nonsense	probably null
R1903:Crybg2	UTSW	4	133,806,167 (GRCm39)	missense	probably damaging	1.00
R2042:Crybg2	UTSW	4	133,814,844 (GRCm39)	missense	possibly damaging	0.89
R2081:Crybg2	UTSW	4	133,816,131 (GRCm39)	missense	possibly damaging	0.82
R2229:Crybg2	UTSW	4	133,801,837 (GRCm39)	small deletion	probably benign
R2321:Crybg2	UTSW	4	133,801,822 (GRCm39)	missense	probably benign	0.38
R2392:Crybg2	UTSW	4	133,799,925 (GRCm39)	missense	probably benign	0.01
R2939:Crybg2	UTSW	4	133,809,745 (GRCm39)	missense	possibly damaging	0.46
R2940:Crybg2	UTSW	4	133,809,745 (GRCm39)	missense	possibly damaging	0.46
R3028:Crybg2	UTSW	4	133,801,095 (GRCm39)	missense	probably benign	0.19
R4458:Crybg2	UTSW	4	133,802,205 (GRCm39)	missense	probably benign	0.32
R4487:Crybg2	UTSW	4	133,801,512 (GRCm39)	missense	probably benign	0.00
R4680:Crybg2	UTSW	4	133,800,029 (GRCm39)	frame shift	probably null
R4681:Crybg2	UTSW	4	133,800,029 (GRCm39)	frame shift	probably null
R4682:Crybg2	UTSW	4	133,800,029 (GRCm39)	frame shift	probably null
R4766:Crybg2	UTSW	4	133,816,663 (GRCm39)	missense	probably damaging	1.00
R5079:Crybg2	UTSW	4	133,801,564 (GRCm39)	missense	possibly damaging	0.83
R5291:Crybg2	UTSW	4	133,800,738 (GRCm39)	missense	probably benign	0.00
R5453:Crybg2	UTSW	4	133,806,147 (GRCm39)	critical splice acceptor site	probably null
R5711:Crybg2	UTSW	4	133,809,938 (GRCm39)	missense	probably damaging	0.97
R5834:Crybg2	UTSW	4	133,801,434 (GRCm39)	missense	probably benign	0.12
R5969:Crybg2	UTSW	4	133,803,003 (GRCm39)	splice site	probably null
R5976:Crybg2	UTSW	4	133,801,837 (GRCm39)	small deletion	probably benign
R6022:Crybg2	UTSW	4	133,801,584 (GRCm39)	nonsense	probably null
R6046:Crybg2	UTSW	4	133,819,388 (GRCm39)	missense	probably damaging	1.00
R6088:Crybg2	UTSW	4	133,803,101 (GRCm39)	splice site	probably null
R6196:Crybg2	UTSW	4	133,808,450 (GRCm39)	missense	probably damaging	0.99
R6246:Crybg2	UTSW	4	133,816,657 (GRCm39)	missense	probably damaging	0.96
R6303:Crybg2	UTSW	4	133,814,898 (GRCm39)	missense	possibly damaging	0.66
R6320:Crybg2	UTSW	4	133,808,737 (GRCm39)	missense	probably damaging	1.00
R6354:Crybg2	UTSW	4	133,818,447 (GRCm39)	missense	probably benign	0.39
R6737:Crybg2	UTSW	4	133,800,001 (GRCm39)	missense	probably damaging	0.99
R6744:Crybg2	UTSW	4	133,816,207 (GRCm39)	missense	probably damaging	1.00
R6847:Crybg2	UTSW	4	133,792,857 (GRCm39)	missense	probably benign	0.40
R6891:Crybg2	UTSW	4	133,809,148 (GRCm39)	missense	probably benign	0.32
R7043:Crybg2	UTSW	4	133,818,447 (GRCm39)	missense	probably benign	0.39
R7133:Crybg2	UTSW	4	133,792,754 (GRCm39)	missense	probably benign	0.09
R7166:Crybg2	UTSW	4	133,788,193 (GRCm39)	missense	probably damaging	0.96
R7412:Crybg2	UTSW	4	133,801,434 (GRCm39)	missense	probably benign	0.12
R7711:Crybg2	UTSW	4	133,792,844 (GRCm39)	missense	probably benign	0.00
R7745:Crybg2	UTSW	4	133,816,156 (GRCm39)	missense	possibly damaging	0.92
R7782:Crybg2	UTSW	4	133,801,137 (GRCm39)	missense	probably benign	0.00
R7871:Crybg2	UTSW	4	133,814,910 (GRCm39)	missense	probably damaging	1.00
R7943:Crybg2	UTSW	4	133,800,295 (GRCm39)	missense	probably damaging	0.97
R8008:Crybg2	UTSW	4	133,818,415 (GRCm39)	missense	probably damaging	1.00
R8017:Crybg2	UTSW	4	133,800,484 (GRCm39)	missense	possibly damaging	0.95
R8292:Crybg2	UTSW	4	133,802,842 (GRCm39)	missense	probably damaging	1.00
R8391:Crybg2	UTSW	4	133,803,035 (GRCm39)	missense	probably damaging	0.97
R8510:Crybg2	UTSW	4	133,800,670 (GRCm39)	missense	probably benign
R8695:Crybg2	UTSW	4	133,792,766 (GRCm39)	missense	possibly damaging	0.55
R8789:Crybg2	UTSW	4	133,801,554 (GRCm39)	missense	probably benign	0.00
R8870:Crybg2	UTSW	4	133,818,525 (GRCm39)	missense	possibly damaging	0.88
R9052:Crybg2	UTSW	4	133,803,035 (GRCm39)	missense	probably damaging	0.97
R9071:Crybg2	UTSW	4	133,818,542 (GRCm39)	missense	probably damaging	1.00
R9088:Crybg2	UTSW	4	133,799,890 (GRCm39)	missense	probably damaging	0.99
R9154:Crybg2	UTSW	4	133,792,620 (GRCm39)	missense	probably benign	0.02
R9440:Crybg2	UTSW	4	133,801,602 (GRCm39)	missense	probably benign	0.00
R9540:Crybg2	UTSW	4	133,816,225 (GRCm39)	missense	probably damaging	0.98
R9606:Crybg2	UTSW	4	133,801,383 (GRCm39)	nonsense	probably null
R9641:Crybg2	UTSW	4	133,816,620 (GRCm39)	nonsense	probably null
R9719:Crybg2	UTSW	4	133,793,148 (GRCm39)	missense	probably benign	0.01
R9734:Crybg2	UTSW	4	133,801,962 (GRCm39)	missense	probably benign	0.00
X0064:Crybg2	UTSW	4	133,816,587 (GRCm39)	missense	probably damaging	0.98
Z1176:Crybg2	UTSW	4	133,809,971 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGTACAGCCATTCCTAGAAAGC -3'
(R):5'- CAGTCAGCATATTCGCCCTC -3'

Sequencing Primer
(F):5'- GAAAGCCAGATTCACCTTTTATCAC -3'
(R):5'- TCTAGTAGGTACTGGTGACCCC -3'

Posted On

2021-01-18