Mutagenetix > Incidental Mutation

Incidental Mutation 'R8789:Crybg2'

670806

Institutional Source

Beutler Lab

Gene Symbol

Crybg2

Ensembl Gene

ENSMUSG00000012123

Gene Name

crystallin beta-gamma domain containing 2

Synonyms

Aim1l

MMRRC Submission

068608-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.862) question?

Stock #

R8789 (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 133801554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 596 (S596P)

Ref Sequence

ENSEMBL: ENSMUSP00000114099 (fasta)

Gene Model

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

AlphaFold

A0A2I3BQG2

Predicted Effect

probably benign
Transcript: ENSMUST00000121391
AA Change: S596P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000114099
Gene: ENSMUSG00000012123
AA Change: S596P

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

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: S905P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Meta Mutation Damage Score

0.0734

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr5	C	T	2: 158,478,604 (GRCm39)	Q485*	probably null	Het
Arsa	C	T	15: 89,358,260 (GRCm39)	V350I	probably benign	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Cav2	T	C	6: 17,281,996 (GRCm39)	Y85H	probably damaging	Het
Ccdc93	A	G	1: 121,424,784 (GRCm39)	Q570R	probably damaging	Het
Cd72	A	G	4: 43,452,628 (GRCm39)	S122P	probably damaging	Het
Cep72	A	G	13: 74,186,367 (GRCm39)	M619T	possibly damaging	Het
Cers5	C	A	15: 99,637,551 (GRCm39)	V233F	possibly damaging	Het
Cntn5	A	G	9: 9,673,292 (GRCm39)	Y803H	probably damaging	Het
Crybg3	T	C	16: 59,375,359 (GRCm39)	E251G	probably benign	Het
Csmd1	T	A	8: 17,266,722 (GRCm39)	N68I	probably damaging	Het
Ctr9	A	G	7: 110,642,933 (GRCm39)	N466S	possibly damaging	Het
Cyp2a4	T	A	7: 26,007,106 (GRCm39)	I71N	probably damaging	Het
Cyp2j11	C	T	4: 96,227,405 (GRCm39)	E204K	probably damaging	Het
Cyp4f39	T	C	17: 32,710,848 (GRCm39)	F469S	probably damaging	Het
Dmac2	T	A	7: 25,320,495 (GRCm39)	S65T	probably benign	Het
Duxf1	T	C	10: 58,059,426 (GRCm39)	N443D	unknown	Het
Elp3	G	A	14: 65,802,870 (GRCm39)	P243S	probably damaging	Het
Foxg1	T	A	12: 49,432,143 (GRCm39)	M292K	probably benign	Het
Fsip2	T	C	2: 82,815,822 (GRCm39)	S3852P	possibly damaging	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,497,361 (GRCm39)		probably null	Het
Gm10912	A	C	2: 103,897,046 (GRCm39)	K62Q	possibly damaging	Het
Grk2	G	A	19: 4,338,511 (GRCm39)	R474C	probably damaging	Het
Hapstr1	T	C	16: 8,660,865 (GRCm39)	I114T	probably benign	Het
Hoxc12	T	C	15: 102,846,732 (GRCm39)	I208T	probably benign	Het
Htra3	G	A	5: 35,836,602 (GRCm39)	P30L	unknown	Het
Itgal	A	G	7: 126,904,421 (GRCm39)	H298R	probably benign	Het
Klrb1c	A	G	6: 128,761,148 (GRCm39)	S160P	probably benign	Het
Or13c7d	A	T	4: 43,770,793 (GRCm39)	C73S	probably damaging	Het
Or2z9	T	C	8: 72,854,135 (GRCm39)	F177S	probably damaging	Het
Phrf1	T	A	7: 140,836,581 (GRCm39)	D284E	unknown	Het
Pmp2	T	A	3: 10,247,564 (GRCm39)	I42F	probably damaging	Het
Psg26	T	C	7: 18,216,494 (GRCm39)	D115G	probably damaging	Het
Pym1	T	C	10: 128,601,073 (GRCm39)	V32A	probably benign	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Recql4	T	C	15: 76,588,546 (GRCm39)	H1105R	probably benign	Het
Rimkla	T	C	4: 119,349,607 (GRCm39)	Y17C	probably damaging	Het
Rnf207	C	T	4: 152,391,924 (GRCm39)	R623K	probably benign	Het
Ros1	A	T	10: 51,999,328 (GRCm39)	N1207K	probably damaging	Het
Scg2	G	T	1: 79,413,500 (GRCm39)	Q368K	probably benign	Het
Serpinb6e	G	A	13: 34,017,213 (GRCm39)	T269I	probably damaging	Het
Tsc22d2	A	T	3: 58,367,438 (GRCm39)	K663*	probably null	Het
Ubr4	T	A	4: 139,137,494 (GRCm39)	N1026K	possibly damaging	Het
Ubtfl1	A	G	9: 18,321,609 (GRCm39)	D379G	unknown	Het
Vps13d	T	C	4: 144,795,743 (GRCm39)	M3700V		Het
Zscan4-ps3	T	C	7: 11,346,288 (GRCm39)	L136P	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
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
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'- CAAAGAGACTGTTGAAAGCCCC -3'
(R):5'- TGGCGTACATAGCCAGGTAG -3'

Sequencing Primer
(F):5'- GACTGTTGAAAGCCCCACCTTC -3'
(R):5'- CGTACATAGCCAGGTAGGAGGAAC -3'

Posted On

2021-04-30