Mutagenetix > Incidental Mutation

Incidental Mutation 'R1583:Crybg2'

177239

Institutional Source

Beutler Lab

Gene Symbol

Crybg2

Ensembl Gene

ENSMUSG00000012123

Gene Name

crystallin beta-gamma domain containing 2

Synonyms

Aim1l

MMRRC Submission

039620-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.819) question?

Stock #

R1583 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134060815-134092504 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134081459 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1415 (S1415P)

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: S1106P

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

SMART Domains

Protein: ENSMUSP00000114099
Gene: ENSMUSG00000012123
AA Change: S1106P

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

noncoding transcript
Transcript: ENSMUST00000132872

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137529

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145122

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149080

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149504

Predicted Effect

probably damaging
Transcript: ENSMUST00000149956
AA Change: S144P

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

SMART Domains

Protein: ENSMUSP00000123349
Gene: ENSMUSG00000012123
AA Change: S144P

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

noncoding transcript
Transcript: ENSMUST00000153392

Predicted Effect

probably damaging
Transcript: ENSMUST00000227683
AA Change: S1415P

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

Meta Mutation Damage Score

0.6443

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.8%

Validation Efficiency

99% (79/80)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 76,882,681	S691P	probably benign	Het
Adgrb3	T	C	1: 25,226,831		probably null	Het
Ankar	A	G	1: 72,679,555		probably benign	Het
Aplf	A	T	6: 87,646,033	Y355N	probably damaging	Het
Bms1	A	G	6: 118,389,389		probably benign	Het
Catsperb	T	C	12: 101,463,114	I182T	probably damaging	Het
Cd300ld2	T	C	11: 115,013,777	D88G	probably benign	Het
Cebpz	T	C	17: 78,934,752	N491S	probably damaging	Het
Ddc	A	G	11: 11,829,131	V331A	probably benign	Het
Decr2	T	C	17: 26,083,024	E244G	probably damaging	Het
Dhrs11	A	G	11: 84,823,117	M136T	probably damaging	Het
Eapp	G	A	12: 54,685,948	Q126*	probably null	Het
Fam111a	T	A	19: 12,587,778	V297D	probably damaging	Het
Fam84a	G	A	12: 14,150,408	A106V	probably benign	Het
Fbxo10	A	C	4: 45,062,118	L136R	probably damaging	Het
Fbxo30	T	A	10: 11,291,374	H613Q	possibly damaging	Het
Frk	A	T	10: 34,591,810		probably null	Het
Gm10392	T	A	11: 77,517,481	D104V	probably benign	Het
Gm960	T	A	19: 4,652,171	K282N	probably damaging	Het
Gpn1	A	G	5: 31,497,338	E78G	possibly damaging	Het
Hhip	T	C	8: 79,990,276	Y506C	probably damaging	Het
Hid1	G	A	11: 115,356,750	S274L	possibly damaging	Het
Immp2l	G	T	12: 41,703,765		probably benign	Het
Klhl21	T	C	4: 152,009,624	F228L	possibly damaging	Het
Lamc1	T	A	1: 153,243,478		probably null	Het
Lars	G	A	18: 42,210,050	R1101C	probably damaging	Het
Magi2	T	C	5: 19,227,332	V15A	probably benign	Het
Map2k7	T	C	8: 4,243,621		probably null	Het
Mga	T	A	2: 119,963,960	H2590Q	possibly damaging	Het
Mlxip	T	C	5: 123,450,223	I238T	possibly damaging	Het
Mylk	T	A	16: 34,875,586	D230E	probably benign	Het
Nacad	T	A	11: 6,601,185	T669S	probably benign	Het
Nin	C	T	12: 70,031,738	M1691I	probably benign	Het
Nlrp4d	C	T	7: 10,382,237	A203T	probably damaging	Het
Olfr1204	T	G	2: 88,852,262	F104C	probably damaging	Het
Olfr1301	A	T	2: 111,754,425	M59L	probably damaging	Het
Olfr1495	A	T	19: 13,768,510	H56L	probably benign	Het
Olfr201	A	G	16: 59,269,031	V212A	probably benign	Het
Olfr433	T	C	1: 174,042,480	F177L	probably benign	Het
Olfr729	C	A	14: 50,148,774	M33I	probably benign	Het
Osbp	C	A	19: 11,977,829	Q282K	probably benign	Het
Osbpl2	A	G	2: 180,148,463	S177G	probably damaging	Het
Pax1	A	G	2: 147,366,255	H261R	possibly damaging	Het
Pcif1	A	T	2: 164,886,727	L274F	probably damaging	Het
Pkhd1	A	G	1: 20,117,825	S3420P	probably benign	Het
Prss3	A	C	6: 41,377,627		probably benign	Het
Ptk2b	T	C	14: 66,163,114	T751A	possibly damaging	Het
Pus10	T	C	11: 23,673,239	V126A	probably damaging	Het
Rai14	A	C	15: 10,587,916	D258E	probably damaging	Het
Rbp3	T	C	14: 33,954,524	V143A	possibly damaging	Het
Sarm1	G	A	11: 78,483,327	Q625*	probably null	Het
Scgb1b21	T	G	7: 33,527,667		noncoding transcript	Het
Scrn1	A	T	6: 54,520,769	V279E	probably damaging	Het
Sipa1l2	T	C	8: 125,421,895	T1670A	probably damaging	Het
Slc9a4	A	T	1: 40,600,962	I305F	probably benign	Het
Smarcc1	A	G	9: 110,213,617	T918A	probably damaging	Het
Tas2r109	A	T	6: 132,980,426	H180Q	probably benign	Het
Tas2r121	G	A	6: 132,700,230	R260*	probably null	Het
Tenm3	T	C	8: 48,279,074	D1249G	probably benign	Het
Tgtp1	C	G	11: 48,987,530	G116A	probably damaging	Het
Tial1	A	G	7: 128,443,910	Y317H	probably damaging	Het
Trim66	A	T	7: 109,455,080	W1308R	probably damaging	Het
Ulk2	T	G	11: 61,783,545	K878N	possibly damaging	Het
Zfp41	T	A	15: 75,618,291	S31T	possibly damaging	Het

Other mutations in Crybg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01083:Crybg2	APN	4	134075444	missense	possibly damaging	0.57
IGL01147:Crybg2	APN	4	134089264	splice site	probably null
IGL02003:Crybg2	APN	4	134072456	missense	probably benign
IGL02468:Crybg2	APN	4	134082587	missense	probably damaging	1.00
R0089:Crybg2	UTSW	4	134081194	missense	probably damaging	1.00
R0414:Crybg2	UTSW	4	134072636	small deletion	probably benign
R0579:Crybg2	UTSW	4	134072738	missense	probably damaging	0.97
R0634:Crybg2	UTSW	4	134075304	splice site	probably benign
R0638:Crybg2	UTSW	4	134074454	missense	probably damaging	1.00
R0686:Crybg2	UTSW	4	134074526	small deletion	probably benign
R1651:Crybg2	UTSW	4	134074825	missense	possibly damaging	0.84
R1651:Crybg2	UTSW	4	134074903	missense	probably benign	0.07
R1752:Crybg2	UTSW	4	134073650	missense	probably damaging	0.96
R1883:Crybg2	UTSW	4	134074283	nonsense	probably null
R1903:Crybg2	UTSW	4	134078856	missense	probably damaging	1.00
R2042:Crybg2	UTSW	4	134087533	missense	possibly damaging	0.89
R2081:Crybg2	UTSW	4	134088820	missense	possibly damaging	0.82
R2229:Crybg2	UTSW	4	134074526	small deletion	probably benign
R2321:Crybg2	UTSW	4	134074511	missense	probably benign	0.38
R2392:Crybg2	UTSW	4	134072614	missense	probably benign	0.01
R2939:Crybg2	UTSW	4	134082434	missense	possibly damaging	0.46
R2940:Crybg2	UTSW	4	134082434	missense	possibly damaging	0.46
R3028:Crybg2	UTSW	4	134073784	missense	probably benign	0.19
R4458:Crybg2	UTSW	4	134074894	missense	probably benign	0.32
R4487:Crybg2	UTSW	4	134074201	missense	probably benign	0.00
R4680:Crybg2	UTSW	4	134072718	frame shift	probably null
R4681:Crybg2	UTSW	4	134072718	frame shift	probably null
R4682:Crybg2	UTSW	4	134072718	frame shift	probably null
R4766:Crybg2	UTSW	4	134089352	missense	probably damaging	1.00
R5079:Crybg2	UTSW	4	134074253	missense	possibly damaging	0.83
R5291:Crybg2	UTSW	4	134073427	missense	probably benign	0.00
R5453:Crybg2	UTSW	4	134078836	critical splice acceptor site	probably null
R5711:Crybg2	UTSW	4	134082627	missense	probably damaging	0.97
R5834:Crybg2	UTSW	4	134074123	missense	probably benign	0.12
R5969:Crybg2	UTSW	4	134075692	splice site	probably null
R5976:Crybg2	UTSW	4	134074526	small deletion	probably benign
R6022:Crybg2	UTSW	4	134074273	nonsense	probably null
R6046:Crybg2	UTSW	4	134092077	missense	probably damaging	1.00
R6088:Crybg2	UTSW	4	134075790	splice site	probably null
R6196:Crybg2	UTSW	4	134081139	missense	probably damaging	0.99
R6246:Crybg2	UTSW	4	134089346	missense	probably damaging	0.96
R6303:Crybg2	UTSW	4	134087587	missense	possibly damaging	0.66
R6320:Crybg2	UTSW	4	134081426	missense	probably damaging	1.00
R6354:Crybg2	UTSW	4	134091136	missense	probably benign	0.39
R6737:Crybg2	UTSW	4	134072690	missense	probably damaging	0.99
R6744:Crybg2	UTSW	4	134088896	missense	probably damaging	1.00
R6847:Crybg2	UTSW	4	134065546	missense	probably benign	0.40
R6891:Crybg2	UTSW	4	134081837	missense	probably benign	0.32
R7043:Crybg2	UTSW	4	134091136	missense	probably benign	0.39
R7133:Crybg2	UTSW	4	134065443	missense	probably benign	0.09
R7166:Crybg2	UTSW	4	134060882	missense	probably damaging	0.96
R7412:Crybg2	UTSW	4	134074123	missense	probably benign	0.12
R7711:Crybg2	UTSW	4	134065533	missense	probably benign	0.00
R7745:Crybg2	UTSW	4	134088845	missense	possibly damaging	0.92
R7782:Crybg2	UTSW	4	134073826	missense	probably benign	0.00
R7871:Crybg2	UTSW	4	134087599	missense	probably damaging	1.00
R7943:Crybg2	UTSW	4	134072984	missense	probably damaging	0.97
R8008:Crybg2	UTSW	4	134091104	missense	probably damaging	1.00
R8017:Crybg2	UTSW	4	134073173	missense	possibly damaging	0.95
R8391:Crybg2	UTSW	4	134075724	missense	probably damaging	0.97
R8510:Crybg2	UTSW	4	134073359	missense	probably benign
R8535:Crybg2	UTSW	4	134081203	missense	probably damaging	1.00
R8695:Crybg2	UTSW	4	134065455	missense	possibly damaging	0.55
R8789:Crybg2	UTSW	4	134074243	missense	probably benign	0.00
R8870:Crybg2	UTSW	4	134091214	missense	possibly damaging	0.88
R9052:Crybg2	UTSW	4	134075724	missense	probably damaging	0.97
R9071:Crybg2	UTSW	4	134091231	missense	probably damaging	1.00
R9088:Crybg2	UTSW	4	134072579	missense	probably damaging	0.99
R9154:Crybg2	UTSW	4	134065309	missense	probably benign	0.02
R9440:Crybg2	UTSW	4	134074291	missense	probably benign	0.00
R9540:Crybg2	UTSW	4	134088914	missense	probably damaging	0.98
X0064:Crybg2	UTSW	4	134089276	missense	probably damaging	0.98
Z1176:Crybg2	UTSW	4	134082660	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACAACCTTCAGCAGCCTGAGGAC -3'
(R):5'- ACGATGCAAACCCGTAGGAGTG -3'

Sequencing Primer
(F):5'- GGTCCCTGCGAATCCTTG -3'
(R):5'- TAGGAGTGCCCAGATCTCAG -3'

Posted On

2014-04-24