Mutagenetix > Incidental Mutation

Incidental Mutation 'R6805:Cul2'

533561

Institutional Source

Beutler Lab

Gene Symbol

Cul2

Ensembl Gene

ENSMUSG00000024231

Gene Name

cullin 2

Synonyms

4932411N15Rik, 1300003D18Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R6805 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3382988-3436377 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 3421263 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 196 (Y196D)

Ref Sequence

ENSEMBL: ENSMUSP00000123903 (fasta)

Gene Model

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

AlphaFold

Q9D4H8

Predicted Effect

probably damaging
Transcript: ENSMUST00000025073
AA Change: Y259D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025073
Gene: ENSMUSG00000024231
AA Change: Y259D

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 damaging
Transcript: ENSMUST00000161317
AA Change: Y196D

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

SMART Domains

Protein: ENSMUSP00000123903
Gene: ENSMUSG00000024231
AA Change: Y196D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000162301
AA Change: Y259D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000125403
Gene: ENSMUSG00000024231
AA Change: Y259D

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: 99.7%
10x: 98.8%
20x: 97.1%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,244,306	V2591A	probably benign	Het
4930407I10Rik	A	G	15: 82,062,543	T214A	possibly damaging	Het
A930009A15Rik	G	T	10: 115,579,905		probably benign	Het
Aadac	A	C	3: 60,037,336	D143A	probably benign	Het
Acot10	T	G	15: 20,665,366	T430P	probably benign	Het
Adgrb3	T	C	1: 25,826,172	T197A	possibly damaging	Het
B230118H07Rik	T	C	2: 101,566,459	K192E	probably benign	Het
Bbs1	A	G	19: 4,900,615	I200T	probably damaging	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Cadps	G	A	14: 12,467,103	A943V	probably damaging	Het
Cc2d2a	A	G	5: 43,681,331	E48G	probably damaging	Het
Clca1	A	T	3: 145,018,667	C211S	probably damaging	Het
Col18a1	A	G	10: 77,054,239	L1429P	probably damaging	Het
D630023F18Rik	T	C	1: 65,117,206	S43G	probably benign	Het
Ddx39	G	A	8: 83,723,137	R427Q	probably damaging	Het
Def6	A	G	17: 28,223,717	T285A	probably damaging	Het
Defb21	T	A	2: 152,574,869	D88E	probably benign	Het
Defb6	A	G	8: 19,228,101	K63R	probably benign	Het
Dnph1	T	C	17: 46,498,744	S112P	probably damaging	Het
Dock10	T	A	1: 80,586,690	I467L	probably benign	Het
Dspp	C	A	5: 104,175,850	H286Q	probably benign	Het
Eya1	T	A	1: 14,183,277	T459S	probably benign	Het
Faf1	T	C	4: 109,861,852	L385P	probably damaging	Het
Fbxw21	C	A	9: 109,157,565	R82L	probably damaging	Het
Fryl	A	G	5: 73,065,094	V2048A	probably benign	Het
Galnt5	A	T	2: 58,035,299	D864V	possibly damaging	Het
Gata6	T	G	18: 11,054,460	S130A	possibly damaging	Het
Gbf1	G	T	19: 46,262,507	R434L	probably damaging	Het
Gga3	A	G	11: 115,585,762	F709L	probably damaging	Het
Hcar1	A	G	5: 123,879,130	V166A	probably benign	Het
Hexa	T	A	9: 59,563,937	N491K	possibly damaging	Het
Hpse2	A	T	19: 43,294,321	C164*	probably null	Het
Ifi202b	T	C	1: 173,974,989	Y93C	probably damaging	Het
Iscu	T	A	5: 113,775,243	I79N	probably damaging	Het
Jmjd7	T	A	2: 120,031,323	Y182*	probably null	Het
Jup	A	T	11: 100,383,458	D135E	probably benign	Het
Kit	T	A	5: 75,652,808	I881N	probably damaging	Het
Llgl1	T	A	11: 60,702,865	S55T	probably benign	Het
Lonp2	G	A	8: 86,709,096	M653I	probably benign	Het
Lrp8	T	C	4: 107,854,320	Y307H	probably damaging	Het
Med13	A	T	11: 86,278,796	M1914K	possibly damaging	Het
Ms4a1	A	G	19: 11,253,173		probably null	Het
Naip1	A	G	13: 100,427,341	S439P	probably benign	Het
Nrg1	T	C	8: 31,821,264	R476G	probably damaging	Het
Olfr1129	T	A	2: 87,574,918		probably null	Het
Olfr835	G	T	9: 19,035,301	M59I	probably damaging	Het
Pds5b	T	A	5: 150,805,561		probably null	Het
Phf12	G	A	11: 78,027,373	G804R	probably damaging	Het
Pou6f2	T	C	13: 18,239,489	T234A		Het
Prune2	A	T	19: 17,120,590	I1153L	probably benign	Het
Ptprc	C	T	1: 138,067,885		probably null	Het
Qpctl	T	C	7: 19,149,154	Q11R	probably benign	Het
Rfx4	A	G	10: 84,840,228	K103E	possibly damaging	Het
Srcin1	T	A	11: 97,551,980		probably null	Het
St6galnac1	G	T	11: 116,768,944	A181D	probably damaging	Het
Stk36	T	C	1: 74,622,239	V475A	probably benign	Het
Tbc1d21	T	C	9: 58,361,288	T263A	possibly damaging	Het
Tex24	A	T	8: 27,345,000	K185N	probably damaging	Het
Tnxb	T	A	17: 34,698,153	V2174E	possibly damaging	Het
Tollip	A	G	7: 141,890,845	S57P	probably benign	Het
Zbtb49	A	G	5: 38,213,241		probably benign	Het
Zfp758	A	G	17: 22,361,669	T30A	probably benign	Het

Other mutations in Cul2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00704:Cul2	APN	18	3423487	missense	probably benign
IGL01293:Cul2	APN	18	3419426	missense	probably damaging	0.99
IGL02719:Cul2	APN	18	3434052	missense	probably damaging	1.00
IGL02886:Cul2	APN	18	3426920	splice site	probably benign
IGL03190:Cul2	APN	18	3429634	missense	possibly damaging	0.95
IGL03389:Cul2	APN	18	3431029	missense	probably benign	0.00
IGL03409:Cul2	APN	18	3429593	missense	probably damaging	1.00
R0238:Cul2	UTSW	18	3414115	splice site	probably benign
R1013:Cul2	UTSW	18	3425535	nonsense	probably null
R1119:Cul2	UTSW	18	3419335	splice site	probably benign
R1743:Cul2	UTSW	18	3426851	missense	probably damaging	1.00
R1897:Cul2	UTSW	18	3414164	missense	probably benign
R2252:Cul2	UTSW	18	3399876	missense	probably damaging	1.00
R2253:Cul2	UTSW	18	3399876	missense	probably damaging	1.00
R3898:Cul2	UTSW	18	3434033	missense	probably benign	0.07
R4386:Cul2	UTSW	18	3434856	missense	probably damaging	1.00
R4579:Cul2	UTSW	18	3430957	missense	probably benign	0.00
R4828:Cul2	UTSW	18	3431013	missense	probably damaging	1.00
R6085:Cul2	UTSW	18	3431508	missense	probably benign	0.01
R6429:Cul2	UTSW	18	3421345	missense	probably damaging	1.00
R6480:Cul2	UTSW	18	3417561	missense	possibly damaging	0.89
R6825:Cul2	UTSW	18	3434946	missense	probably damaging	0.99
R7343:Cul2	UTSW	18	3426873	missense	probably benign	0.08
R7690:Cul2	UTSW	18	3419420	missense	probably benign	0.09
R8114:Cul2	UTSW	18	3426164	nonsense	probably null
R8414:Cul2	UTSW	18	3399912	missense	probably benign	0.08
R8736:Cul2	UTSW	18	3434019	missense	probably damaging	0.99
R8849:Cul2	UTSW	18	3423551	missense	probably benign	0.00
R9199:Cul2	UTSW	18	3423577	missense	probably benign	0.00
R9443:Cul2	UTSW	18	3434041	nonsense	probably null
R9709:Cul2	UTSW	18	3431560	missense	probably damaging	1.00
X0067:Cul2	UTSW	18	3419435	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- TCAGGGCATGTAGGTGACAG -3'
(R):5'- CCTTAAGGGAATATGTAATACACCAGG -3'

Sequencing Primer
(F):5'- CAGAGGTTAAGTTGATCTGAAATGAC -3'
(R):5'- TTAAATCTAAGGTAAGAGGAAACAGC -3'

Posted On

2018-09-12