Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02719:Cul2'

304921

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cul2

Ensembl Gene

ENSMUSG00000024231

Gene Name

cullin 2

Synonyms

4932411N15Rik, 1300003D18Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

IGL02719

Quality Score

Status

Chromosome

Chromosomal Location

3382988-3436377 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3434052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 683 (A683V)

Ref Sequence

ENSEMBL: ENSMUSP00000125403 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025073] [ENSMUST00000080089] [ENSMUST00000161317] [ENSMUST00000162301]

AlphaFold

Q9D4H8

Predicted Effect

probably benign
Transcript: ENSMUST00000025073

SMART Domains

Protein: ENSMUSP00000025073
Gene: ENSMUSG00000024231

Domain	Start	End	E-Value	Type
SCOP:d1ldja2	11	386	1e-109	SMART
CULLIN	416	568	1.19e-84	SMART
low complexity region	636	646	N/A	INTRINSIC
Pfam:Cullin_Nedd8	651	700	9.2e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000080089

SMART Domains

Protein: ENSMUSP00000078988
Gene: ENSMUSG00000024231

Domain	Start	End	E-Value	Type
Pfam:Cullin	14	88	2.1e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159443

Predicted Effect

probably benign
Transcript: ENSMUST00000161317

SMART Domains

Protein: ENSMUSP00000123903
Gene: ENSMUSG00000024231

Domain	Start	End	E-Value	Type
CULLIN	353	505	1.19e-84	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000162301
AA Change: A683V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125403
Gene: ENSMUSG00000024231
AA Change: A683V

Domain	Start	End	E-Value	Type
SCOP:d1ldja2	11	386	1e-108	SMART
CULLIN	416	568	1.19e-84	SMART
low complexity region	636	646	N/A	INTRINSIC
Cullin_Nedd8	672	739	1.01e-33	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,632,150 (GRCm39)	D160G	probably damaging	Het
Aak1	A	G	6: 86,936,152 (GRCm39)		probably benign	Het
Anp32e	A	G	3: 95,845,224 (GRCm39)		probably benign	Het
Aspscr1	T	A	11: 120,568,405 (GRCm39)	L61Q	probably damaging	Het
Btrc	A	G	19: 45,491,589 (GRCm39)	I89M	probably damaging	Het
Ccdc175	G	A	12: 72,221,899 (GRCm39)	T141M	probably damaging	Het
Cep70	G	A	9: 99,157,775 (GRCm39)	V225I	probably damaging	Het
Cilk1	A	G	9: 78,047,301 (GRCm39)	E67G	probably damaging	Het
Col4a1	T	C	8: 11,281,950 (GRCm39)		probably benign	Het
Cpne1	T	C	2: 155,920,137 (GRCm39)	Y214C	probably damaging	Het
Crtc3	T	C	7: 80,268,406 (GRCm39)		probably null	Het
Ddx47	A	G	6: 134,994,114 (GRCm39)	N131D	probably benign	Het
Dnah7b	T	G	1: 46,138,768 (GRCm39)		probably benign	Het
Dnai2	T	C	11: 114,642,737 (GRCm39)	L446P	probably damaging	Het
Ergic2	T	C	6: 148,106,317 (GRCm39)	T58A	possibly damaging	Het
Erlin2	A	G	8: 27,519,703 (GRCm39)		probably benign	Het
Fermt2	T	C	14: 45,742,113 (GRCm39)	T78A	probably damaging	Het
Flg2	G	T	3: 93,127,438 (GRCm39)	G97*	probably null	Het
Gm7356	A	G	17: 14,221,537 (GRCm39)	I164T	probably damaging	Het
Gucy1a2	T	A	9: 3,894,719 (GRCm39)		probably benign	Het
Heatr5b	C	T	17: 79,122,969 (GRCm39)	R670H	probably damaging	Het
Hspa4l	T	C	3: 40,727,090 (GRCm39)	V476A	possibly damaging	Het
Itpkc	A	T	7: 26,927,475 (GRCm39)	D146E	possibly damaging	Het
Kcnk3	T	C	5: 30,779,324 (GRCm39)	F125L	probably damaging	Het
Kif12	T	A	4: 63,086,033 (GRCm39)	M411L	probably benign	Het
Krtap24-1	T	C	16: 88,409,094 (GRCm39)	S11G	probably benign	Het
Lilra6	A	T	7: 3,915,991 (GRCm39)	H289Q	possibly damaging	Het
Musk	A	C	4: 58,356,496 (GRCm39)	N469H	probably benign	Het
Myom1	A	G	17: 71,413,349 (GRCm39)		probably benign	Het
Nagpa	A	G	16: 5,019,357 (GRCm39)	V46A	possibly damaging	Het
Or4k37	T	A	2: 111,159,590 (GRCm39)	Y275*	probably null	Het
Or5h25	T	A	16: 58,930,536 (GRCm39)	T146S	probably benign	Het
Or8g17	T	C	9: 38,930,312 (GRCm39)	N175S	probably benign	Het
Parp6	T	A	9: 59,538,021 (GRCm39)	V222E	probably benign	Het
Pde3b	T	A	7: 114,105,483 (GRCm39)	S472T	probably damaging	Het
Peak1	A	G	9: 56,134,490 (GRCm39)	S1314P	probably damaging	Het
Pgc	A	G	17: 48,039,792 (GRCm39)	Y62C	probably damaging	Het
Pitpnm2	A	G	5: 124,278,665 (GRCm39)	C189R	probably damaging	Het
Pla2g15	G	T	8: 106,886,828 (GRCm39)	Q106H	probably benign	Het
Pla2g4c	T	A	7: 13,064,019 (GRCm39)	S93T	probably damaging	Het
Rbks	G	T	5: 31,809,145 (GRCm39)		probably benign	Het
Retsat	A	G	6: 72,580,642 (GRCm39)	T207A	possibly damaging	Het
Slc25a32	A	G	15: 38,963,300 (GRCm39)	Y174H	probably benign	Het
Slc35f2	T	A	9: 53,717,026 (GRCm39)		probably benign	Het
Snx19	A	G	9: 30,343,556 (GRCm39)	N572S	possibly damaging	Het
Sos2	A	G	12: 69,663,958 (GRCm39)	Y476H	probably benign	Het
Ssh2	A	T	11: 77,316,413 (GRCm39)	N296I	probably damaging	Het
Sspo	G	T	6: 48,459,601 (GRCm39)	R3320L	probably benign	Het
Synj2	A	G	17: 6,047,192 (GRCm39)	I166V	probably benign	Het
Tpp2	T	C	1: 43,979,391 (GRCm39)	V96A	probably benign	Het
Vmn2r3	A	T	3: 64,183,031 (GRCm39)	W223R	probably damaging	Het
Wdr17	T	C	8: 55,146,089 (GRCm39)		probably null	Het
Zfr2	T	A	10: 81,080,546 (GRCm39)	C407S	probably damaging	Het

Other mutations in Cul2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00704:Cul2	APN	18	3,423,487 (GRCm39)	missense	probably benign
IGL01293:Cul2	APN	18	3,419,426 (GRCm39)	missense	probably damaging	0.99
IGL02886:Cul2	APN	18	3,426,920 (GRCm39)	splice site	probably benign
IGL03190:Cul2	APN	18	3,429,634 (GRCm39)	missense	possibly damaging	0.95
IGL03389:Cul2	APN	18	3,431,029 (GRCm39)	missense	probably benign	0.00
IGL03409:Cul2	APN	18	3,429,593 (GRCm39)	missense	probably damaging	1.00
R0238:Cul2	UTSW	18	3,414,115 (GRCm39)	splice site	probably benign
R1013:Cul2	UTSW	18	3,425,535 (GRCm39)	nonsense	probably null
R1119:Cul2	UTSW	18	3,419,335 (GRCm39)	splice site	probably benign
R1743:Cul2	UTSW	18	3,426,851 (GRCm39)	missense	probably damaging	1.00
R1897:Cul2	UTSW	18	3,414,164 (GRCm39)	missense	probably benign
R2252:Cul2	UTSW	18	3,399,876 (GRCm39)	missense	probably damaging	1.00
R2253:Cul2	UTSW	18	3,399,876 (GRCm39)	missense	probably damaging	1.00
R3898:Cul2	UTSW	18	3,434,033 (GRCm39)	missense	probably benign	0.07
R4386:Cul2	UTSW	18	3,434,856 (GRCm39)	missense	probably damaging	1.00
R4579:Cul2	UTSW	18	3,430,957 (GRCm39)	missense	probably benign	0.00
R4828:Cul2	UTSW	18	3,431,013 (GRCm39)	missense	probably damaging	1.00
R6085:Cul2	UTSW	18	3,431,508 (GRCm39)	missense	probably benign	0.01
R6429:Cul2	UTSW	18	3,421,345 (GRCm39)	missense	probably damaging	1.00
R6480:Cul2	UTSW	18	3,417,561 (GRCm39)	missense	possibly damaging	0.89
R6805:Cul2	UTSW	18	3,421,263 (GRCm39)	missense	probably damaging	1.00
R6825:Cul2	UTSW	18	3,434,946 (GRCm39)	missense	probably damaging	0.99
R7343:Cul2	UTSW	18	3,426,873 (GRCm39)	missense	probably benign	0.08
R7690:Cul2	UTSW	18	3,419,420 (GRCm39)	missense	probably benign	0.09
R8114:Cul2	UTSW	18	3,426,164 (GRCm39)	nonsense	probably null
R8414:Cul2	UTSW	18	3,399,912 (GRCm39)	missense	probably benign	0.08
R8736:Cul2	UTSW	18	3,434,019 (GRCm39)	missense	probably damaging	0.99
R8849:Cul2	UTSW	18	3,423,551 (GRCm39)	missense	probably benign	0.00
R9199:Cul2	UTSW	18	3,423,577 (GRCm39)	missense	probably benign	0.00
R9443:Cul2	UTSW	18	3,434,041 (GRCm39)	nonsense	probably null
R9709:Cul2	UTSW	18	3,431,560 (GRCm39)	missense	probably damaging	1.00
X0067:Cul2	UTSW	18	3,419,435 (GRCm39)	missense	possibly damaging	0.62

Posted On

2015-04-16