Mutagenetix > Incidental Mutation

Incidental Mutation 'R2321:Crybg2'

245634

Institutional Source

Beutler Lab

Gene Symbol

Crybg2

Ensembl Gene

ENSMUSG00000012123

Gene Name

crystallin beta-gamma domain containing 2

Synonyms

Aim1l

MMRRC Submission

040313-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.862) question?

Stock #

R2321 (G1)

Quality Score

125

Status

Validated

Chromosome

Chromosomal Location

133788126-133819815 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133801822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 994 (E994G)

Ref Sequence

ENSEMBL: ENSMUSP00000154159 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000121391] [ENSMUST00000137053] [ENSMUST00000149956] [ENSMUST00000219402] [ENSMUST00000227683]

AlphaFold

A0A2I3BQG2

Predicted Effect

probably benign
Transcript: ENSMUST00000121391
AA Change: E685G

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114099
Gene: ENSMUSG00000012123
AA Change: E685G

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 benign
Transcript: ENSMUST00000137053

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149504

Predicted Effect

probably benign
Transcript: ENSMUST00000149956

SMART Domains

Protein: ENSMUSP00000123349
Gene: ENSMUSG00000012123

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 benign
Transcript: ENSMUST00000219402

Predicted Effect

probably benign
Transcript: ENSMUST00000227683
AA Change: E994G

PolyPhen 2 Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.0674

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,557,349 (GRCm39)	A115T	probably benign	Het
Abcf2	A	T	5: 24,772,251 (GRCm39)	Y492*	probably null	Het
Adcy9	A	G	16: 4,106,132 (GRCm39)	V994A	probably damaging	Het
Arhgef40	T	C	14: 52,231,733 (GRCm39)		probably benign	Het
Bhlha15	T	C	5: 144,128,014 (GRCm39)	L42P	probably damaging	Het
Clca4b	C	A	3: 144,638,134 (GRCm39)	A43S	probably benign	Het
Cpq	A	G	15: 33,594,291 (GRCm39)	H434R	probably benign	Het
Dcaf1	T	C	9: 106,715,672 (GRCm39)	L263S	probably benign	Het
Dnajc12	G	T	10: 63,242,990 (GRCm39)		probably benign	Het
Fbxo32	T	C	15: 58,054,689 (GRCm39)	I215V	possibly damaging	Het
Krtap17-1	T	C	11: 99,884,746 (GRCm39)	D7G	unknown	Het
Men1	A	G	19: 6,389,868 (GRCm39)	D466G	possibly damaging	Het
Myh15	T	A	16: 48,933,436 (GRCm39)	F624I	possibly damaging	Het
Ncam1	A	C	9: 49,456,132 (GRCm39)		probably benign	Het
Or2y1d	A	G	11: 49,322,107 (GRCm39)	N268S	probably benign	Het
Otol1	T	A	3: 69,925,858 (GRCm39)	L11*	probably null	Het
Plekhg4	T	C	8: 106,104,172 (GRCm39)	S447P	probably benign	Het
Pnma8b	G	T	7: 16,679,490 (GRCm39)	R158L	unknown	Het
Ppp1r2	A	T	16: 31,084,121 (GRCm39)		probably null	Het
Rad51ap2	G	A	12: 11,507,058 (GRCm39)	G327R	probably damaging	Het
Rbm26	T	C	14: 105,390,863 (GRCm39)	T208A	unknown	Het
Reln	T	C	5: 22,120,018 (GRCm39)	Y2878C	probably damaging	Het
Rnps1	T	A	17: 24,641,142 (GRCm39)	F181I	probably damaging	Het
Senp6	A	C	9: 80,031,022 (GRCm39)	I575L	possibly damaging	Het
Serpinh1	T	C	7: 98,995,592 (GRCm39)	D330G	probably damaging	Het
Slamf9	G	T	1: 172,304,980 (GRCm39)	C198F	probably damaging	Het
Slc22a13	A	T	9: 119,024,694 (GRCm39)	V261D	possibly damaging	Het
Slc26a4	A	G	12: 31,590,543 (GRCm39)	V370A	probably damaging	Het
Tasp1	A	G	2: 139,899,332 (GRCm39)	M7T	probably benign	Het
Tet2	T	C	3: 133,192,100 (GRCm39)	N778S	possibly damaging	Het
Tm9sf4	T	A	2: 153,046,506 (GRCm39)	Y582N	probably damaging	Het
Tmem131l	T	A	3: 83,843,330 (GRCm39)	H508L	probably damaging	Het
Tmem71	T	G	15: 66,423,849 (GRCm39)	D139A	possibly damaging	Het
Uroc1	A	G	6: 90,324,229 (GRCm39)	R418G	possibly damaging	Het
Wdr64	A	C	1: 175,622,653 (GRCm39)	K810T	possibly damaging	Het
Zgrf1	C	A	3: 127,356,056 (GRCm39)	Y427*	probably null	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
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
R8535:Crybg2	UTSW	4	133,808,514 (GRCm39)	missense	probably damaging	1.00
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'- TACTCTGAGGAGCATGGAGC -3'
(R):5'- TGTTGGCTGGCACCAGATTG -3'

Sequencing Primer
(F):5'- ATGGAGCCCCCTGAGATC -3'
(R):5'- GCCTTGTCCAGCTATGAGC -3'

Posted On

2014-10-30