Mutagenetix > Incidental Mutation

Incidental Mutation 'R5766:Cttnbp2'

446271

Institutional Source

Beutler Lab

Gene Symbol

Cttnbp2

Ensembl Gene

ENSMUSG00000000416

Gene Name

cortactin binding protein 2

Synonyms

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

MMRRC Submission

044424-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5766 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18366478-18514843 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18381033 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1388 (V1388A)

Ref Sequence

ENSEMBL: ENSMUSP00000088089 (fasta)

Gene Model

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

AlphaFold

B9EJA2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090601
AA Change: V1388A

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000088089
Gene: ENSMUSG00000000416
AA Change: V1388A

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

possibly damaging
Transcript: ENSMUST00000146775
AA Change: V878A

PolyPhen 2 Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000119383
Gene: ENSMUSG00000000416
AA Change: V878A

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

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	G	A	7: 28,137,329	W224*	probably null	Het
Aadacl3	A	G	4: 144,455,869	V343A	probably damaging	Het
AI429214	TCCCTGATGAAC	TC	8: 36,994,229		probably null	Het
Arid2	A	G	15: 96,372,205	T1400A	probably benign	Het
Arrdc1	G	A	2: 24,926,405	T184I	probably damaging	Het
Aspm	T	C	1: 139,479,002	F1876L	probably damaging	Het
Calhm1	C	T	19: 47,143,703	V158I	probably benign	Het
Caly	T	C	7: 140,070,397	K211E	probably benign	Het
Cenpe	T	C	3: 135,248,413	L1677P	probably damaging	Het
Dgkd	C	T	1: 87,880,449	R80*	probably null	Het
Dnah3	A	T	7: 119,978,222	I2072N	probably damaging	Het
Dnah8	A	G	17: 30,690,261	I1020M	probably benign	Het
Drc3	T	C	11: 60,393,821	V484A	probably benign	Het
Efcab8	A	G	2: 153,780,992	D27G	possibly damaging	Het
Fat4	G	A	3: 38,889,468	G837R	probably damaging	Het
Fgb	A	T	3: 83,046,176	C96S	probably damaging	Het
Flt4	G	C	11: 49,626,686	W278C	possibly damaging	Het
Fmnl2	T	C	2: 53,101,454	V327A	probably damaging	Het
Fras1	A	T	5: 96,731,689	Y2455F	possibly damaging	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm13872	T	A	2: 102,737,909	I88N	probably damaging	Het
Hoxa6	A	G	6: 52,208,414	S71P	probably benign	Het
Hunk	T	A	16: 90,453,739	C148S	probably damaging	Het
Ighv1-18	A	C	12: 114,682,907	S26A	probably damaging	Het
Impg2	T	G	16: 56,259,820	D553E	possibly damaging	Het
Ints1	A	G	5: 139,772,145	I266T	probably benign	Het
Kpna3	G	T	14: 61,403,014	T33K	probably benign	Het
Lamb1	A	G	12: 31,299,931	D622G	probably damaging	Het
Lamp3	T	C	16: 19,701,317	T39A	probably damaging	Het
Mnt	C	T	11: 74,843,078		probably benign	Het
Msh4	A	G	3: 153,867,840	S726P	probably damaging	Het
Olfr539	T	A	7: 140,667,353	V22E	probably benign	Het
Pah	A	C	10: 87,567,347	K195Q	probably damaging	Het
Pdc	T	A	1: 150,333,500	*245K	probably null	Het
Pdzd8	A	T	19: 59,300,540	H809Q	possibly damaging	Het
Plekhd1	A	T	12: 80,722,366	I467L	probably benign	Het
Ppp2ca	A	G	11: 52,113,187	D57G	probably damaging	Het
Ralgapa1	A	T	12: 55,820,766	M1K	probably null	Het
Rfx2	T	A	17: 56,803,587	D133V	probably benign	Het
Scfd2	A	T	5: 74,462,651	L407Q	probably damaging	Het
Scp2d1	T	A	2: 144,824,037	S99T	possibly damaging	Het
Sec63	A	T	10: 42,801,681	N261I	probably damaging	Het
Slc8a1	T	C	17: 81,648,961	Y216C	probably damaging	Het
Son	T	A	16: 91,664,987		probably benign	Het
Syce1	T	C	7: 140,777,981	E285G	probably damaging	Het
Taar7a	G	T	10: 23,993,362	S40R	probably benign	Het
Ube3a	A	T	7: 59,276,059	D216V	possibly damaging	Het
Vgll2	A	G	10: 52,027,563	D174G	probably damaging	Het
Vmn2r17	A	T	5: 109,427,273	T149S	possibly damaging	Het
Zbtb39	G	T	10: 127,742,688	C377F	probably damaging	Het
Zfp820	T	A	17: 21,820,002	N115I	probably damaging	Het
Zfp948	T	C	17: 21,584,816	S23P	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
IGL01994:Cttnbp2	APN	6	18420815	missense	possibly damaging	0.77
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
Feelers	UTSW	6	18405279	splice site	probably null
warning	UTSW	6	18375953	missense	probably damaging	1.00
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
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
R8754:Cttnbp2	UTSW	6	18434038	missense	possibly damaging	0.94
R8769:Cttnbp2	UTSW	6	18376004	missense	probably damaging	1.00
R8836:Cttnbp2	UTSW	6	18375953	missense	probably damaging	1.00
R8886:Cttnbp2	UTSW	6	18414299	missense	probably benign	0.00
R8921:Cttnbp2	UTSW	6	18434878	missense	probably benign	0.10
R8931:Cttnbp2	UTSW	6	18434809	missense	probably benign	0.00
R8956:Cttnbp2	UTSW	6	18434166	missense	possibly damaging	0.92
R9005:Cttnbp2	UTSW	6	18434431	missense	probably damaging	1.00
R9141:Cttnbp2	UTSW	6	18429139	nonsense	probably null
R9194:Cttnbp2	UTSW	6	18434851	missense	probably benign	0.00
R9425:Cttnbp2	UTSW	6	18423881	missense	probably damaging	1.00
R9563:Cttnbp2	UTSW	6	18367383	missense	probably benign	0.03
R9563:Cttnbp2	UTSW	6	18427468	nonsense	probably null
R9661:Cttnbp2	UTSW	6	18429152	missense
R9763:Cttnbp2	UTSW	6	18435241	missense	probably benign
R9790:Cttnbp2	UTSW	6	18376028	missense	probably benign	0.03
R9791:Cttnbp2	UTSW	6	18376028	missense	probably benign	0.03
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

Predicted Primers

PCR Primer
(F):5'- ATGAGCGGTGCATTCATTTC -3'
(R):5'- TCCTCAAAGTTTTCAGGTCTGC -3'

Sequencing Primer
(F):5'- TTCTTTAGTCACAAGGAGACAAAGG -3'
(R):5'- GCAGTTTTTAAGAGACTTGGCCC -3'

Posted On

2016-11-21