Mutagenetix > Incidental Mutation

Incidental Mutation 'R6480:Cul2'

517062

Institutional Source

Beutler Lab

Gene Symbol

Cul2

Ensembl Gene

ENSMUSG00000024231

Gene Name

cullin 2

Synonyms

4932411N15Rik, 1300003D18Rik

MMRRC Submission

044612-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

R6480 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3382988-3436377 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 3417561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 115 (K115T)

Ref Sequence

ENSEMBL: ENSMUSP00000125403 (fasta)

Gene Model

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

AlphaFold

Q9D4H8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025073
AA Change: K115T

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025073
Gene: ENSMUSG00000024231
AA Change: K115T

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

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

possibly damaging
Transcript: ENSMUST00000162301
AA Change: K115T

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125403
Gene: ENSMUSG00000024231
AA Change: K115T

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

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.4%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl8b	T	A	6: 108,792,010 (GRCm39)	N90K	possibly damaging	Het
Art3	T	C	5: 92,540,676 (GRCm39)	F140L	probably damaging	Het
Ascc3	T	A	10: 50,587,049 (GRCm39)	M967K	probably damaging	Het
Ccne1	G	A	7: 37,806,279 (GRCm39)		probably benign	Het
Cdc14b	T	C	13: 64,373,464 (GRCm39)		probably null	Het
Ceacam2	T	A	7: 25,219,414 (GRCm39)	E282V	probably damaging	Het
Clk4	T	A	11: 51,161,373 (GRCm39)	C86*	probably null	Het
Dhx29	A	T	13: 113,090,322 (GRCm39)	K800*	probably null	Het
Dlec1	T	C	9: 118,976,758 (GRCm39)	F1741S	probably benign	Het
Dnah12	A	G	14: 26,594,412 (GRCm39)	T3455A	probably damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Drd4	A	T	7: 140,874,706 (GRCm39)	I366F	possibly damaging	Het
Fam169b	T	A	7: 68,003,466 (GRCm39)	Y273*	probably null	Het
Fbn1	T	A	2: 125,177,338 (GRCm39)	Y1833F	probably benign	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Gjb6	T	C	14: 57,361,899 (GRCm39)	I121V	probably benign	Het
Glg1	T	C	8: 111,924,338 (GRCm39)	T217A	possibly damaging	Het
Igkv5-48	A	G	6: 69,703,810 (GRCm39)	S32P	probably benign	Het
Itgax	C	A	7: 127,747,771 (GRCm39)	F1062L	probably benign	Het
Lct	G	A	1: 128,222,057 (GRCm39)	T1494I	probably damaging	Het
Lilra6	G	A	7: 3,915,932 (GRCm39)	T309I	probably damaging	Het
Mical3	T	C	6: 121,011,236 (GRCm39)	T321A	possibly damaging	Het
Mmp23	T	A	4: 155,736,798 (GRCm39)	N104I	probably damaging	Het
Muc17	T	C	5: 137,171,238 (GRCm39)	Y131C		Het
Naip2	A	C	13: 100,298,549 (GRCm39)	S496A	probably benign	Het
Ndufs2	A	G	1: 171,064,267 (GRCm39)	S348P	probably damaging	Het
Nepro	T	C	16: 44,547,438 (GRCm39)	S52P	probably damaging	Het
Nlrp6	A	G	7: 140,507,356 (GRCm39)	E874G	possibly damaging	Het
Nsmce1	A	G	7: 125,090,590 (GRCm39)	V9A	probably benign	Het
Or1q1	T	C	2: 36,887,007 (GRCm39)	F62L	probably benign	Het
Or2a7	T	C	6: 43,151,000 (GRCm39)	F27L	probably benign	Het
Or5b105	T	A	19: 13,079,838 (GRCm39)	T277S	probably benign	Het
Or6c3	A	T	10: 129,308,590 (GRCm39)	I10F	possibly damaging	Het
Per2	A	T	1: 91,357,104 (GRCm39)		probably null	Het
Pgbd1	T	C	13: 21,607,646 (GRCm39)	I183V	probably benign	Het
Pik3c2g	T	C	6: 139,676,195 (GRCm39)	V113A	probably benign	Het
Pipox	A	G	11: 77,773,474 (GRCm39)	L259P	probably damaging	Het
Pkd1l3	C	T	8: 110,365,019 (GRCm39)	Q1124*	probably null	Het
Plcd3	A	G	11: 102,965,757 (GRCm39)	S492P	possibly damaging	Het
Rcor2	T	G	19: 7,248,411 (GRCm39)	M142R	probably benign	Het
Rwdd3	T	C	3: 120,950,101 (GRCm39)	E115G	probably damaging	Het
Slc13a3	T	C	2: 165,250,818 (GRCm39)	Y475C	probably damaging	Het
Slc14a2	A	T	18: 78,202,297 (GRCm39)	I611N	possibly damaging	Het
Slc25a24	G	T	3: 109,043,617 (GRCm39)	M91I	probably damaging	Het
Spg11	T	C	2: 121,922,786 (GRCm39)	S888G	probably benign	Het
Spta1	A	T	1: 174,014,714 (GRCm39)		probably null	Het
Stk35	C	A	2: 129,652,607 (GRCm39)	D369E	possibly damaging	Het
Tanc1	T	C	2: 59,637,986 (GRCm39)	S889P	probably damaging	Het
Tbc1d10b	T	C	7: 126,798,050 (GRCm39)	N697S	probably damaging	Het
Tcof1	A	T	18: 60,947,852 (GRCm39)		probably null	Het
Tg	T	A	15: 66,543,160 (GRCm39)	Y25N	probably damaging	Het
Thbs1	T	C	2: 117,949,598 (GRCm39)	C563R	probably damaging	Het
Tlr11	A	G	14: 50,600,512 (GRCm39)	S833G	possibly damaging	Het
Uggt2	T	A	14: 119,294,976 (GRCm39)	H550L	probably benign	Het
Utp20	A	G	10: 88,591,048 (GRCm39)		probably null	Het
Wbp1l	T	A	19: 46,642,758 (GRCm39)	L253Q	probably damaging	Het
Zfp433	T	A	10: 81,556,078 (GRCm39)	S161R	possibly damaging	Het
Zfp865	A	G	7: 5,032,782 (GRCm39)	T256A	probably damaging	Het
Zpr1	A	G	9: 46,186,009 (GRCm39)	D160G	probably benign	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
IGL02719:Cul2	APN	18	3,434,052 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TTTGCAGAAAGTCCAGGGCTAAC -3'
(R):5'- AGATGAGCCAACCCCTGATG -3'

Sequencing Primer
(F):5'- GTCCAGGGCTAACAATTTACTG -3'
(R):5'- CTGATGACAGGTGGAAGGG -3'

Posted On

2018-05-21