Mutagenetix > Incidental Mutation

Incidental Mutation 'R0417:Cdc42ep5'

40398

Institutional Source

Beutler Lab

Gene Symbol

Cdc42ep5

Ensembl Gene

ENSMUSG00000063838

Gene Name

CDC42 effector protein 5

Synonyms

2010007O02Rik, 1700027J19Rik, Borg3, CEP5

MMRRC Submission

038619-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R0417 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4154259-4167830 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4154482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 102 (L102P)

Ref Sequence

ENSEMBL: ENSMUSP00000092508 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037472] [ENSMUST00000058358] [ENSMUST00000076831] [ENSMUST00000121270] [ENSMUST00000140410] [ENSMUST00000143825]

AlphaFold

Q9Z0X0

Predicted Effect

probably benign
Transcript: ENSMUST00000037472

SMART Domains

Protein: ENSMUSP00000046465
Gene: ENSMUSG00000035545

Domain	Start	End	E-Value	Type
low complexity region	47	69	N/A	INTRINSIC
low complexity region	73	118	N/A	INTRINSIC
low complexity region	156	174	N/A	INTRINSIC
low complexity region	383	396	N/A	INTRINSIC
low complexity region	413	447	N/A	INTRINSIC
low complexity region	453	468	N/A	INTRINSIC
Pfam:SAC3_GANP	567	762	8.2e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000058358

SMART Domains

Protein: ENSMUSP00000061079
Gene: ENSMUSG00000043432

Domain	Start	End	E-Value	Type
ZnF_C3H1	8	34	1.72e-4	SMART
Pfam:DUF504	77	128	1.9e-11	PFAM
Pfam:AKAP7_NLS	305	484	2.5e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000076831
AA Change: L102P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000092508
Gene: ENSMUSG00000063838
AA Change: L102P

Domain	Start	End	E-Value	Type
PBD	23	57	5.86e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121270

SMART Domains

Protein: ENSMUSP00000112428
Gene: ENSMUSG00000035545

Domain	Start	End	E-Value	Type
low complexity region	47	69	N/A	INTRINSIC
low complexity region	73	118	N/A	INTRINSIC
low complexity region	156	174	N/A	INTRINSIC
low complexity region	383	396	N/A	INTRINSIC
low complexity region	413	447	N/A	INTRINSIC
low complexity region	453	468	N/A	INTRINSIC
Pfam:SAC3_GANP	567	764	7.4e-67	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127723

Predicted Effect

probably benign
Transcript: ENSMUST00000140410

Predicted Effect

probably benign
Transcript: ENSMUST00000143825

SMART Domains

Protein: ENSMUSP00000117257
Gene: ENSMUSG00000063838

Domain	Start	End	E-Value	Type
PBD	23	57	5.86e-6	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cell division control protein 42 (CDC42), a small Rho GTPase, regulates the formation of F-actin-containing structures through its interaction with the downstream effector proteins. The protein encoded by this gene is a member of the Borg (binder of Rho GTPases) family of CDC42 effector proteins. Borg family proteins contain a CRIB (Cdc42/Rac interactive-binding) domain. They bind to CDC42 and regulate its function negatively. The encoded protein may inhibit c-Jun N-terminal kinase (JNK) independently of CDC42 binding. The protein may also play a role in septin organization and inducing pseudopodia formation in fibroblasts [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 73,199,244 (GRCm39)	K217R	probably damaging	Het
1810024B03Rik	A	G	2: 127,028,864 (GRCm39)	Y112H	probably damaging	Het
Acot2	T	C	12: 84,037,387 (GRCm39)	Y234H	probably benign	Het
Alox12e	C	T	11: 70,212,691 (GRCm39)	V53I	probably benign	Het
Ankrd50	T	C	3: 38,510,510 (GRCm39)	H619R	probably damaging	Het
Arfgef3	A	T	10: 18,479,259 (GRCm39)	L1452Q	probably damaging	Het
Arhgap42	T	C	9: 9,180,034 (GRCm39)	S82G	possibly damaging	Het
Arhgef18	T	C	8: 3,438,957 (GRCm39)		probably benign	Het
Bicra	C	A	7: 15,706,247 (GRCm39)	R1398L	probably damaging	Het
Boc	T	C	16: 44,340,597 (GRCm39)	T118A	probably benign	Het
Btnl9	A	G	11: 49,066,422 (GRCm39)	Y381H	probably damaging	Het
Cbln3	T	G	14: 56,121,586 (GRCm39)	E20A	probably benign	Het
Csrnp3	A	G	2: 65,849,887 (GRCm39)	Y171C	probably benign	Het
Cyp2d9	A	T	15: 82,340,152 (GRCm39)	I181F	probably damaging	Het
Cyp7b1	T	A	3: 18,150,855 (GRCm39)	T295S	probably damaging	Het
Dbn1	C	T	13: 55,622,729 (GRCm39)	E585K	probably damaging	Het
Dok1	A	T	6: 83,008,550 (GRCm39)	D377E	probably damaging	Het
Eed	A	T	7: 89,620,760 (GRCm39)	Y87*	probably null	Het
Entpd3	T	C	9: 120,386,487 (GRCm39)	V156A	probably damaging	Het
Exo5	T	A	4: 120,779,269 (GRCm39)	T199S	probably damaging	Het
Extl2	T	C	3: 115,818,006 (GRCm39)	I106T	probably benign	Het
Ezh2	A	G	6: 47,528,660 (GRCm39)	C291R	probably benign	Het
Flvcr1	A	T	1: 190,743,416 (GRCm39)	M466K	probably benign	Het
Fras1	G	T	5: 96,839,231 (GRCm39)	M1583I	probably benign	Het
Fzd9	G	T	5: 135,278,473 (GRCm39)	R471S	probably damaging	Het
Galr1	A	T	18: 82,423,665 (GRCm39)	F204Y	probably damaging	Het
Gna11	A	T	10: 81,366,738 (GRCm39)	I324N	probably damaging	Het
Gucy1a2	A	G	9: 3,759,484 (GRCm39)	E430G	possibly damaging	Het
Hhatl	C	T	9: 121,617,828 (GRCm39)	A254T	probably benign	Het
Ikzf1	A	C	11: 11,719,352 (GRCm39)	N353T	probably benign	Het
Il7	T	A	3: 7,641,087 (GRCm39)	T110S	probably damaging	Het
Keg1	A	G	19: 12,688,424 (GRCm39)	N53D	probably damaging	Het
Klhl21	T	C	4: 152,099,964 (GRCm39)	I558T	probably damaging	Het
Lca5l	G	A	16: 95,963,853 (GRCm39)	T357M	probably damaging	Het
Lrba	T	C	3: 86,622,961 (GRCm39)	S2448P	probably damaging	Het
Map3k6	T	A	4: 132,975,393 (GRCm39)	Y709*	probably null	Het
Megf6	A	G	4: 154,352,424 (GRCm39)	E1261G	probably benign	Het
Mettl3	C	T	14: 52,534,155 (GRCm39)	G473D	probably damaging	Het
Mga	A	G	2: 119,733,271 (GRCm39)	I40V	probably damaging	Het
Mmp13	T	A	9: 7,276,602 (GRCm39)	D232E	probably benign	Het
Nampt	T	C	12: 32,883,100 (GRCm39)	V95A	probably benign	Het
Nbeal1	T	C	1: 60,286,893 (GRCm39)	V905A	probably benign	Het
Nomo1	A	T	7: 45,718,122 (GRCm39)	E840V	possibly damaging	Het
Nprl2	A	T	9: 107,420,497 (GRCm39)	I101F	probably damaging	Het
Nup160	A	T	2: 90,565,771 (GRCm39)	I1378F	possibly damaging	Het
Ogdhl	T	C	14: 32,048,936 (GRCm39)	S69P	probably damaging	Het
Or2y17	T	A	11: 49,231,500 (GRCm39)	I47N	possibly damaging	Het
Or4a68	C	A	2: 89,270,519 (GRCm39)	V35L	possibly damaging	Het
Or4k77	A	G	2: 111,199,450 (GRCm39)	S158G	possibly damaging	Het
Or5be3	A	T	2: 86,863,789 (GRCm39)	Y259N	probably damaging	Het
Or8b12i	G	A	9: 20,082,510 (GRCm39)	A119V	probably damaging	Het
Or8c16	A	G	9: 38,130,751 (GRCm39)	I211V	probably benign	Het
Or8c8	T	C	9: 38,165,160 (GRCm39)	F149S	probably benign	Het
Osbpl3	C	T	6: 50,324,998 (GRCm39)	V167I	probably benign	Het
Pclo	T	A	5: 14,763,036 (GRCm39)	H3836Q	unknown	Het
Prkcg	A	T	7: 3,352,820 (GRCm39)		probably null	Het
Ror1	A	T	4: 100,269,197 (GRCm39)	H345L	possibly damaging	Het
Slc36a2	C	T	11: 55,072,370 (GRCm39)		probably null	Het
Slc40a1	G	A	1: 45,950,534 (GRCm39)	P306L	possibly damaging	Het
Slc9a8	C	A	2: 167,299,264 (GRCm39)	T239K	probably benign	Het
Snapc3	A	G	4: 83,368,399 (GRCm39)	I299V	probably benign	Het
Sp3	G	A	2: 72,801,845 (GRCm39)	A56V	possibly damaging	Het
Spag17	T	A	3: 99,972,870 (GRCm39)	S1361T	probably benign	Het
Sptbn2	A	G	19: 4,787,954 (GRCm39)	T978A	probably benign	Het
Stom	C	A	2: 35,211,644 (GRCm39)	V126F	probably damaging	Het
Stpg2	A	G	3: 138,924,082 (GRCm39)	T162A	probably damaging	Het
Stxbp6	G	A	12: 44,949,740 (GRCm39)	T63M	probably damaging	Het
Tatdn1	A	C	15: 58,793,199 (GRCm39)	I69S	probably benign	Het
Tbata	A	T	10: 61,016,118 (GRCm39)	D198V	probably damaging	Het
Tbc1d5	T	C	17: 51,063,733 (GRCm39)	I638V	probably benign	Het
Tomm70a	A	G	16: 56,970,266 (GRCm39)	D548G	probably benign	Het
Ust	A	G	10: 8,121,700 (GRCm39)	F303L	probably damaging	Het
Vps13d	A	G	4: 144,703,130 (GRCm39)	S4306P	probably benign	Het
Zbed6	A	T	1: 133,586,276 (GRCm39)	S354T	probably benign	Het
Zfp691	A	G	4: 119,027,693 (GRCm39)	S180P	possibly damaging	Het

Other mutations in Cdc42ep5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02255:Cdc42ep5	APN	7	4,154,399 (GRCm39)	nonsense	probably null
R1605:Cdc42ep5	UTSW	7	4,154,395 (GRCm39)	missense	probably benign	0.15
R4361:Cdc42ep5	UTSW	7	4,154,779 (GRCm39)	missense	possibly damaging	0.61
R4696:Cdc42ep5	UTSW	7	4,154,614 (GRCm39)	missense	possibly damaging	0.60
R7246:Cdc42ep5	UTSW	7	4,154,473 (GRCm39)	missense	possibly damaging	0.92
Z1176:Cdc42ep5	UTSW	7	4,154,725 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCGCGTAAAGTGAATAGACAGTCC -3'
(R):5'- GGAGACTTCAGGCACACATTGCAC -3'

Sequencing Primer
(F):5'- ACAAACCTCAGCCATTTATGTG -3'
(R):5'- ACATTCTGTCGCTCCACCTG -3'

Posted On

2013-05-23