Mutagenetix > Incidental Mutation

Incidental Mutation 'R9440:Crybg2'

713576

Institutional Source

Beutler Lab

Gene Symbol

Crybg2

Ensembl Gene

ENSMUSG00000012123

Gene Name

crystallin beta-gamma domain containing 2

Synonyms

Aim1l

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.853) question?

Stock #

R9440 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

134060815-134092504 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134074291 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 612 (S612P)

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: S612P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000114099
Gene: ENSMUSG00000012123
AA Change: S612P

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: S921P

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	A	T	16: 90,929,944	V116E	probably benign	Het
Abca17	G	A	17: 24,280,478	T1359M	probably benign	Het
Acacb	T	A	5: 114,246,024	C2205S	possibly damaging	Het
Akap3	A	G	6: 126,864,628	E70G	probably benign	Het
Aldh1a3	C	A	7: 66,419,244		probably null	Het
Asb4	A	G	6: 5,429,817	I352M	probably benign	Het
Bach1	C	G	16: 87,719,715	S381R	probably benign	Het
BC034090	A	G	1: 155,226,215	L101P	probably benign	Het
Bms1	A	T	6: 118,405,256	D440E	probably benign	Het
Bpifb6	A	T	2: 153,905,994	D191V	probably benign	Het
Cfd	T	C	10: 79,890,982		probably null	Het
Cnot3	G	A	7: 3,653,561	E252K	probably damaging	Het
Col6a3	T	C	1: 90,779,346	D2622G	unknown	Het
Cyp4b1	T	C	4: 115,636,384	K167R	probably damaging	Het
Gbp3	T	C	3: 142,566,574	V279A	possibly damaging	Het
Gipc2	T	C	3: 152,128,069	T192A	possibly damaging	Het
Gm3285	T	C	10: 77,862,077	V20A		Het
Gm35339	T	C	15: 76,360,864	S1176P		Het
Gorasp2	T	C	2: 70,711,125		probably null	Het
Gpr179	A	G	11: 97,338,489	S947P	probably benign	Het
Klra5	C	A	6: 129,906,723	W147L	possibly damaging	Het
Lrch4	G	A	5: 137,637,789	R368Q	probably damaging	Het
Mamdc4	A	G	2: 25,565,588	V876A	probably benign	Het
Marf1	A	C	16: 14,120,332	D1433E	probably benign	Het
Mcm4	A	T	16: 15,635,311	C171*	probably null	Het
Micall1	C	T	15: 79,126,959	P510S		Het
Morc3	A	G	16: 93,853,087		probably null	Het
Mrpl28	G	T	17: 26,126,292	V229F	possibly damaging	Het
Mrps33	A	T	6: 39,805,430	Y52*	probably null	Het
Mybphl	T	C	3: 108,374,886	I144T	probably benign	Het
Myom1	A	G	17: 71,126,334	M1657V	probably benign	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,595,057		probably benign	Het
Olfr492	A	G	7: 108,322,830	I282T	probably benign	Het
Peg10	T	TCCG	6: 4,756,451		probably benign	Het
Plxna1	T	C	6: 89,341,930	K637R	probably benign	Het
Prob1	G	T	18: 35,653,165	L679I	possibly damaging	Het
Sgms2	C	A	3: 131,325,069	C255F	probably damaging	Het
Slc17a9	T	C	2: 180,741,297	C399R	probably benign	Het
Smc4	T	A	3: 69,008,122		probably null	Het
St14	A	G	9: 31,096,549	L578P	probably damaging	Het
Tcaf3	A	T	6: 42,596,972	L102*	probably null	Het
Tex15	A	G	8: 33,582,245	T2607A	possibly damaging	Het
Trav15-2-dv6-2	T	A	14: 53,649,475		probably benign	Het
Trip4	T	C	9: 65,852,952		probably null	Het
Ttf1	A	G	2: 29,065,697	I358V	probably benign	Het
Uroc1	C	A	6: 90,345,371	S292R	possibly damaging	Het
Vmn1r5	T	C	6: 56,985,430	I30T	possibly damaging	Het
Vps33a	A	T	5: 123,564,984	I192N	probably damaging	Het
Vps50	A	G	6: 3,516,724	I69V	probably benign	Het
Xirp1	G	A	9: 120,018,137	T560M	probably damaging	Het
Zfp512	A	T	5: 31,471,015	T266S	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
R1583:Crybg2	UTSW	4	134081459	missense	probably damaging	1.00
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
R8292:Crybg2	UTSW	4	134075531	missense	probably damaging	1.00
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
R9540:Crybg2	UTSW	4	134088914	missense	probably damaging	0.98
R9606:Crybg2	UTSW	4	134074072	nonsense	probably null
R9641:Crybg2	UTSW	4	134089309	nonsense	probably null
R9719:Crybg2	UTSW	4	134065837	missense	probably benign	0.01
R9734:Crybg2	UTSW	4	134074651	missense	probably benign	0.00
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'- TGTTGAAAGCCCCACCTTCC -3'
(R):5'- CAGCTGATCCTCTTCAATGGC -3'

Sequencing Primer
(F):5'- CGAGATTCTCCAGGGAACTTC -3'
(R):5'- ATCCTCTTCAATGGCGGGGAG -3'

Posted On

2022-06-15