Mutagenetix > Incidental Mutation

Incidental Mutation 'R9071:Crybg2'

689529

Institutional Source

Beutler Lab

Gene Symbol

Crybg2

Ensembl Gene

ENSMUSG00000012123

Gene Name

crystallin beta-gamma domain containing 2

Synonyms

Aim1l

MMRRC Submission

068893-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.876) question?

Stock #

R9071 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

133788126-133819815 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133818542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 1433 (N1433D)

Ref Sequence

ENSEMBL: ENSMUSP00000114099 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000696] [ENSMUST00000121391] [ENSMUST00000149956] [ENSMUST00000227683]

AlphaFold

A0A2I3BQG2

Predicted Effect

probably benign
Transcript: ENSMUST00000000696

SMART Domains

Protein: ENSMUSP00000000696
Gene: ENSMUSG00000000682

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:CD52	23	74	1.4e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000121391
AA Change: N1433D

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

SMART Domains

Protein: ENSMUSP00000114099
Gene: ENSMUSG00000012123
AA Change: N1433D

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: 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 damaging
Transcript: ENSMUST00000227683
AA Change: N1742D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	G	T	7: 41,274,783 (GRCm39)	R162L	probably benign	Het
Alpi	A	G	1: 87,026,584 (GRCm39)	V469A	probably damaging	Het
Amotl2	G	T	9: 102,595,892 (GRCm39)		probably benign	Het
Ano3	T	A	2: 110,625,418 (GRCm39)		probably null	Het
Atg16l1	G	T	1: 87,683,907 (GRCm39)		probably benign	Het
Atg2b	C	A	12: 105,625,099 (GRCm39)	E626*	probably null	Het
B3galt9	T	C	2: 34,728,435 (GRCm39)	V78A	probably benign	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Ccdc162	G	A	10: 41,457,174 (GRCm39)	Q1588*	probably null	Het
Cd3d	A	T	9: 44,896,340 (GRCm39)	H43L	probably benign	Het
Cenpk	C	T	13: 104,378,870 (GRCm39)	Q164*	probably null	Het
Clybl	C	A	14: 122,608,697 (GRCm39)	D96E	probably benign	Het
Cog1	T	C	11: 113,546,939 (GRCm39)	V511A	probably damaging	Het
Crhr1	T	A	11: 104,064,133 (GRCm39)	I282N	probably damaging	Het
Cspp1	A	T	1: 10,159,121 (GRCm39)	I516F	possibly damaging	Het
Cul9	T	C	17: 46,837,379 (GRCm39)	T1030A	probably benign	Het
Cyp2d10	T	C	15: 82,288,361 (GRCm39)	T313A	probably damaging	Het
Ddx11	T	A	17: 66,450,736 (GRCm39)	N549K	probably damaging	Het
Ddx41	A	G	13: 55,680,219 (GRCm39)	V391A	probably damaging	Het
Eif3a	T	C	19: 60,751,634 (GRCm39)	D1227G	unknown	Het
Fam83f	T	C	15: 80,576,206 (GRCm39)	Y286H	probably damaging	Het
Fasn	T	C	11: 120,708,324 (GRCm39)	D647G	probably damaging	Het
Fat4	T	C	3: 39,037,598 (GRCm39)	V3750A	probably benign	Het
Golga2	T	C	2: 32,178,364 (GRCm39)	S14P	probably damaging	Het
Hgsnat	A	G	8: 26,436,302 (GRCm39)	V584A	possibly damaging	Het
Ifi207	A	T	1: 173,557,764 (GRCm39)	F325I	unknown	Het
Igfals	A	T	17: 25,099,670 (GRCm39)	I254F	probably damaging	Het
Matr3	T	C	18: 35,705,803 (GRCm39)	Y243H	possibly damaging	Het
Mki67	G	C	7: 135,301,205 (GRCm39)	D1276E	probably benign	Het
Moap1	T	A	12: 102,709,364 (GRCm39)	K62*	probably null	Het
Msto1	C	A	3: 88,812,414 (GRCm39)		probably benign	Het
Myt1	A	T	2: 181,448,420 (GRCm39)	D697V	possibly damaging	Het
Nampt	T	A	12: 32,892,781 (GRCm39)	V356E	probably damaging	Het
Nell2	T	A	15: 95,244,682 (GRCm39)	K472*	probably null	Het
Nfe2l3	A	C	6: 51,434,243 (GRCm39)	S268R	probably benign	Het
Or8b43	T	C	9: 38,361,032 (GRCm39)	I288T	possibly damaging	Het
Osbpl10	G	T	9: 114,890,908 (GRCm39)	V99L	probably benign	Het
Plod2	A	G	9: 92,485,048 (GRCm39)	I537M	probably benign	Het
Prdm4	A	G	10: 85,729,076 (GRCm39)	L770P	probably benign	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
Scaper	T	C	9: 55,771,803 (GRCm39)	D371G	probably benign	Het
Sema3e	A	G	5: 14,282,154 (GRCm39)	K430R	probably benign	Het
Sez6l	A	T	5: 112,573,603 (GRCm39)		probably benign	Het
Slco1a5	A	T	6: 142,196,052 (GRCm39)	I317N	possibly damaging	Het
Spata4	T	G	8: 55,055,742 (GRCm39)	F211C	probably damaging	Het
Sspo	A	G	6: 48,433,982 (GRCm39)	E929G	probably benign	Het
Sult1e1	A	C	5: 87,735,681 (GRCm39)		probably benign	Het
Tas2r125	A	T	6: 132,887,400 (GRCm39)	N263Y	probably benign	Het
Ugt3a1	T	A	15: 9,370,224 (GRCm39)	L456*	probably null	Het
Wdr20rt	G	A	12: 65,274,222 (GRCm39)	V562I	probably benign	Het
Zc3h7b	T	C	15: 81,677,964 (GRCm39)	*983Q	probably null	Het
Zfp28	T	A	7: 6,397,544 (GRCm39)	C660S	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
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
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'- AAAAGATGTGACTTTGTCAGTGGGG -3'
(R):5'- TTTTAACTACTGTGGCACTTGC -3'

Sequencing Primer
(F):5'- CTCGAGGGTCCCTAGTTGAG -3'
(R):5'- TTGCCCAGCCCCAAACACTAG -3'

Posted On

2021-11-19