Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01994:Cttnbp2'

183602

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cttnbp2

Ensembl Gene

ENSMUSG00000000416

Gene Name

cortactin binding protein 2

Synonyms

4732477G22Rik, 3010022N24Rik, Cortbp2, ORF4, 9130022E09Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01994

Quality Score

Status

Chromosome

Chromosomal Location

18366478-18514843 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18420815 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 899 (D899G)

Ref Sequence

ENSEMBL: ENSMUSP00000088089 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090601] [ENSMUST00000148602]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090601
AA Change: D899G

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000088089
Gene: ENSMUSG00000000416
AA Change: D899G

Domain	Start	End	E-Value	Type
low complexity region	19	30	N/A	INTRINSIC
Pfam:CortBP2	32	138	3.1e-34	PFAM
low complexity region	197	213	N/A	INTRINSIC
low complexity region	255	270	N/A	INTRINSIC
low complexity region	393	415	N/A	INTRINSIC
low complexity region	539	547	N/A	INTRINSIC
low complexity region	594	606	N/A	INTRINSIC
low complexity region	662	673	N/A	INTRINSIC
ANK	699	729	5.21e1	SMART
ANK	733	762	7.02e-5	SMART
ANK	766	795	6.55e-5	SMART
ANK	799	828	4.1e-6	SMART
ANK	832	861	1.09e-1	SMART
ANK	901	931	4.43e-2	SMART
Blast:AAA	1108	1285	1e-18	BLAST
low complexity region	1609	1623	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137958

Predicted Effect

unknown
Transcript: ENSMUST00000146775
AA Change: D389G

SMART Domains

Protein: ENSMUSP00000119383
Gene: ENSMUSG00000000416
AA Change: D389G

Domain	Start	End	E-Value	Type
low complexity region	71	79	N/A	INTRINSIC
low complexity region	126	138	N/A	INTRINSIC
ANK	190	220	5.21e1	SMART
ANK	224	253	7.02e-5	SMART
ANK	257	286	6.55e-5	SMART
ANK	290	319	4.1e-6	SMART
ANK	323	352	1.09e-1	SMART
ANK	392	422	4.43e-2	SMART
Blast:AAA	599	776	1e-18	BLAST
low complexity region	1100	1114	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148602

SMART Domains

Protein: ENSMUSP00000118432
Gene: ENSMUSG00000000416

Domain	Start	End	E-Value	Type
Pfam:CortBP2	26	138	4.3e-50	PFAM
Pfam:CortBP2	134	180	1.3e-12	PFAM
low complexity region	197	213	N/A	INTRINSIC
low complexity region	255	270	N/A	INTRINSIC
low complexity region	393	415	N/A	INTRINSIC
low complexity region	539	547	N/A	INTRINSIC
low complexity region	594	606	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152499

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with six ankyrin repeats and several proline-rich regions. A similar gene in rat interacts with a central regulator of the actin cytoskeleton. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	A	T	13: 12,290,677	Y418N	probably benign	Het
Adam15	T	C	3: 89,341,505		probably benign	Het
Adam32	C	A	8: 24,902,796		probably benign	Het
Adamts12	T	A	15: 11,345,594	C1574S	probably damaging	Het
Adck1	T	C	12: 88,431,156	S187P	possibly damaging	Het
Atp13a3	A	G	16: 30,337,518	V949A	possibly damaging	Het
Atxn3	T	C	12: 101,942,180	T138A	probably benign	Het
Atxn7l2	C	T	3: 108,203,543	R559Q	probably damaging	Het
Bicra	G	T	7: 15,972,816	S1233R	possibly damaging	Het
Cacybp	G	T	1: 160,206,636	N101K	probably damaging	Het
Cops7b	T	C	1: 86,601,106	L185P	probably damaging	Het
Cyp4f37	C	T	17: 32,625,176	R85*	probably null	Het
Dnah3	T	G	7: 119,951,214	N3294T	possibly damaging	Het
Elmo1	T	A	13: 20,342,464	Y395N	probably damaging	Het
Fam234b	T	A	6: 135,225,205	Y308*	probably null	Het
Fam43a	A	G	16: 30,600,663	K22E	probably damaging	Het
Fcer2a	T	C	8: 3,688,302	N123D	possibly damaging	Het
Gm11595	A	G	11: 99,772,201	C218R	unknown	Het
Gria4	T	C	9: 4,537,726	Y194C	probably damaging	Het
Grin2d	T	C	7: 45,857,972	E435G	probably damaging	Het
Hectd1	T	C	12: 51,797,942	E506G	probably damaging	Het
Htt	G	A	5: 34,832,604	S1160N	possibly damaging	Het
Ift140	A	G	17: 25,048,443	E605G	probably damaging	Het
Il17re	T	C	6: 113,468,450	V374A	probably benign	Het
Ippk	A	G	13: 49,458,617	Q439R	possibly damaging	Het
Itgam	G	A	7: 128,101,727	V530M	probably damaging	Het
Kirrel3	A	G	9: 35,020,133	H47R	possibly damaging	Het
Klk1b24	A	T	7: 44,191,633	I162F	probably damaging	Het
Lama1	A	T	17: 67,752,439	T606S	probably benign	Het
Lama2	C	T	10: 27,467,203		probably null	Het
Lrp2	A	G	2: 69,483,601	I2262T	probably benign	Het
Mamdc4	A	T	2: 25,568,534	I317N	possibly damaging	Het
Mtmr3	G	T	11: 4,487,938	H839N	probably benign	Het
Ncr1	G	T	7: 4,341,254	V177F	probably benign	Het
Nop58	T	C	1: 59,704,083	S219P	probably damaging	Het
Nrg3	T	C	14: 39,012,086	Y281C	probably damaging	Het
Nsf	A	G	11: 103,928,782	S54P	probably damaging	Het
Olfr421-ps1	T	A	1: 174,151,536	S7T	probably benign	Het
Olfr687	A	T	7: 105,275,946		noncoding transcript	Het
Plxnc1	T	C	10: 94,849,939	K730R	probably damaging	Het
Polr2g	A	T	19: 8,794,376		probably benign	Het
Rps13	A	G	7: 116,333,690		probably benign	Het
Scgb2b7	A	G	7: 31,703,984	I99T	probably benign	Het
Slc22a27	G	T	19: 7,909,743	H260Q	possibly damaging	Het
Spata18	G	T	5: 73,657,601		probably null	Het
Tns2	A	G	15: 102,111,379	E560G	possibly damaging	Het
Trbv16	T	C	6: 41,151,781		probably benign	Het
Ubr3	T	A	2: 70,021,176	I1829N	probably damaging	Het
Vcl	C	T	14: 21,003,243	T442I	probably damaging	Het
Vmn2r102	T	A	17: 19,660,469	I24N	probably benign	Het
Vmn2r114	T	C	17: 23,310,477	D217G	probably damaging	Het
Vmn2r58	A	G	7: 41,836,970	Y834H	probably damaging	Het
Zdhhc8	G	T	16: 18,227,772		probably benign	Het

Other mutations in Cttnbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00954:Cttnbp2	APN	6	18381062	missense	possibly damaging	0.71
IGL01014:Cttnbp2	APN	6	18423895	missense	probably damaging	0.98
IGL01148:Cttnbp2	APN	6	18382818	missense	probably damaging	1.00
IGL01903:Cttnbp2	APN	6	18501965	missense	probably damaging	1.00
IGL01906:Cttnbp2	APN	6	18378376	nonsense	probably null
IGL02212:Cttnbp2	APN	6	18382749	missense	possibly damaging	0.78
IGL02696:Cttnbp2	APN	6	18434129	missense	probably benign	0.01
IGL02813:Cttnbp2	APN	6	18367538	missense	possibly damaging	0.94
IGL02864:Cttnbp2	APN	6	18374549	missense	probably benign	0.21
IGL03309:Cttnbp2	APN	6	18381036	missense	probably damaging	0.98
BB009:Cttnbp2	UTSW	6	18427533	missense	probably damaging	1.00
BB019:Cttnbp2	UTSW	6	18427533	missense	probably damaging	1.00
FR4304:Cttnbp2	UTSW	6	18367458	utr 3 prime	probably benign
FR4449:Cttnbp2	UTSW	6	18367462	utr 3 prime	probably benign
FR4548:Cttnbp2	UTSW	6	18367463	utr 3 prime	probably benign
FR4589:Cttnbp2	UTSW	6	18367458	utr 3 prime	probably benign
FR4976:Cttnbp2	UTSW	6	18367461	utr 3 prime	probably benign
FR4976:Cttnbp2	UTSW	6	18367467	utr 3 prime	probably benign
R0165:Cttnbp2	UTSW	6	18435410	nonsense	probably null
R0382:Cttnbp2	UTSW	6	18435343	missense	probably benign	0.39
R0464:Cttnbp2	UTSW	6	18408691	missense	possibly damaging	0.81
R0550:Cttnbp2	UTSW	6	18435309	missense	possibly damaging	0.89
R0571:Cttnbp2	UTSW	6	18381103	missense	probably benign
R0627:Cttnbp2	UTSW	6	18367373	makesense	probably null
R0788:Cttnbp2	UTSW	6	18423835	missense	probably damaging	1.00
R0826:Cttnbp2	UTSW	6	18405178	splice site	probably benign
R1319:Cttnbp2	UTSW	6	18434630	missense	probably benign	0.00
R1476:Cttnbp2	UTSW	6	18434221	missense	probably damaging	1.00
R1572:Cttnbp2	UTSW	6	18375975	missense	possibly damaging	0.68
R1596:Cttnbp2	UTSW	6	18408592	missense	probably damaging	1.00
R1607:Cttnbp2	UTSW	6	18435433	missense	probably damaging	1.00
R1633:Cttnbp2	UTSW	6	18435167	missense	probably damaging	1.00
R1634:Cttnbp2	UTSW	6	18408657	missense	probably benign	0.39
R1661:Cttnbp2	UTSW	6	18434983	missense	probably benign	0.20
R1665:Cttnbp2	UTSW	6	18434983	missense	probably benign	0.20
R1834:Cttnbp2	UTSW	6	18501966	missense	probably damaging	1.00
R1853:Cttnbp2	UTSW	6	18408602	missense	probably benign	0.00
R1855:Cttnbp2	UTSW	6	18378413	missense	probably benign
R2018:Cttnbp2	UTSW	6	18434518	missense	probably damaging	1.00
R2169:Cttnbp2	UTSW	6	18426097	missense	probably benign	0.00
R2175:Cttnbp2	UTSW	6	18434829	splice site	probably null
R2202:Cttnbp2	UTSW	6	18408694	missense	probably benign	0.12
R2203:Cttnbp2	UTSW	6	18408694	missense	probably benign	0.12
R2204:Cttnbp2	UTSW	6	18408694	missense	probably benign	0.12
R2205:Cttnbp2	UTSW	6	18408694	missense	probably benign	0.12
R2371:Cttnbp2	UTSW	6	18380604	missense	possibly damaging	0.69
R2416:Cttnbp2	UTSW	6	18448286	missense	probably damaging	0.99
R3414:Cttnbp2	UTSW	6	18389205	missense	probably benign
R3617:Cttnbp2	UTSW	6	18414190	missense	probably damaging	1.00
R3861:Cttnbp2	UTSW	6	18423833	missense	probably benign	0.11
R3862:Cttnbp2	UTSW	6	18434906	missense	probably benign	0.02
R3940:Cttnbp2	UTSW	6	18420975	missense	probably benign	0.34
R3941:Cttnbp2	UTSW	6	18427453	missense	probably benign	0.11
R4097:Cttnbp2	UTSW	6	18420872	missense	probably benign
R4211:Cttnbp2	UTSW	6	18427543	missense	probably damaging	1.00
R4353:Cttnbp2	UTSW	6	18514704	missense	probably benign	0.00
R4367:Cttnbp2	UTSW	6	18405249	missense	probably damaging	1.00
R4651:Cttnbp2	UTSW	6	18434038	missense	possibly damaging	0.81
R4652:Cttnbp2	UTSW	6	18434038	missense	possibly damaging	0.81
R4660:Cttnbp2	UTSW	6	18406537	missense	probably benign	0.05
R4975:Cttnbp2	UTSW	6	18406526	missense	possibly damaging	0.91
R5064:Cttnbp2	UTSW	6	18448279	missense	probably damaging	1.00
R5205:Cttnbp2	UTSW	6	18427433	splice site	probably benign
R5305:Cttnbp2	UTSW	6	18381098	missense	probably benign
R5484:Cttnbp2	UTSW	6	18427690	intron	probably benign
R5629:Cttnbp2	UTSW	6	18405218	missense	probably damaging	1.00
R5763:Cttnbp2	UTSW	6	18414299	missense	probably benign	0.00
R5766:Cttnbp2	UTSW	6	18381033	missense	possibly damaging	0.87
R5942:Cttnbp2	UTSW	6	18448440	missense	probably damaging	1.00
R6073:Cttnbp2	UTSW	6	18434233	missense	probably damaging	1.00
R6073:Cttnbp2	UTSW	6	18448369	missense	probably benign	0.01
R6163:Cttnbp2	UTSW	6	18434951	missense	possibly damaging	0.91
R6545:Cttnbp2	UTSW	6	18405279	splice site	probably null
R6858:Cttnbp2	UTSW	6	18448453	missense	probably damaging	1.00
R7037:Cttnbp2	UTSW	6	18435118	missense	probably damaging	1.00
R7135:Cttnbp2	UTSW	6	18448447	missense	possibly damaging	0.95
R7141:Cttnbp2	UTSW	6	18380468	missense	probably benign	0.00
R7353:Cttnbp2	UTSW	6	18375944	missense	possibly damaging	0.94
R7465:Cttnbp2	UTSW	6	18501992	missense	probably damaging	1.00
R7500:Cttnbp2	UTSW	6	18378420	missense	probably benign	0.00
R7534:Cttnbp2	UTSW	6	18420765	critical splice donor site	probably null
R7646:Cttnbp2	UTSW	6	18375940	missense	probably damaging	1.00
R7678:Cttnbp2	UTSW	6	18382810	missense	probably damaging	1.00
R7699:Cttnbp2	UTSW	6	18514735	start codon destroyed	possibly damaging	0.82
R7809:Cttnbp2	UTSW	6	18434290	missense	probably damaging	0.99
R7816:Cttnbp2	UTSW	6	18448414	missense	probably damaging	1.00
R7817:Cttnbp2	UTSW	6	18426093	missense	possibly damaging	0.58
R7932:Cttnbp2	UTSW	6	18427533	missense	probably damaging	1.00
R8010:Cttnbp2	UTSW	6	18426093	missense	possibly damaging	0.58
R8011:Cttnbp2	UTSW	6	18426093	missense	possibly damaging	0.58
R8014:Cttnbp2	UTSW	6	18426093	missense	possibly damaging	0.58
R8015:Cttnbp2	UTSW	6	18426093	missense	possibly damaging	0.58
R8095:Cttnbp2	UTSW	6	18435433	missense	probably damaging	1.00
Z1176:Cttnbp2	UTSW	6	18408709	missense	probably benign	0.00
Z1176:Cttnbp2	UTSW	6	18408725	missense	possibly damaging	0.94
Z1176:Cttnbp2	UTSW	6	18420836	missense	possibly damaging	0.83
Z1176:Cttnbp2	UTSW	6	18501960	nonsense	probably null

Posted On

2014-05-07