Mutagenetix > Incidental Mutation

Incidental Mutation 'R0826:Cttnbp2'

78222

Institutional Source

Beutler Lab

Gene Symbol

Cttnbp2

Ensembl Gene

ENSMUSG00000000416

Gene Name

cortactin binding protein 2

Synonyms

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

MMRRC Submission

039006-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0826 (G1)

Quality Score

209

Status

Validated

Chromosome

Chromosomal Location

18366477-18514842 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 18405177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118432 (fasta)

Gene Model

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

AlphaFold

B9EJA2

Predicted Effect

probably benign
Transcript: ENSMUST00000090601

SMART Domains

Protein: ENSMUSP00000088089
Gene: ENSMUSG00000000416

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

probably benign
Transcript: ENSMUST00000141581

SMART Domains

Protein: ENSMUSP00000123162
Gene: ENSMUSG00000000416

Domain	Start	End	E-Value	Type
low complexity region	182	193	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146775

SMART Domains

Protein: ENSMUSP00000119383
Gene: ENSMUSG00000000416

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: 99.5%
3x: 98.6%
10x: 95.7%
20x: 86.3%

Validation Efficiency

100% (69/69)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
4931406C07Rik	T	C	9: 15,203,292 (GRCm39)		probably null	Het
Adamts16	T	A	13: 70,916,811 (GRCm39)	D727V	possibly damaging	Het
Anxa10	A	C	8: 62,529,318 (GRCm39)	L133*	probably null	Het
Arfgef3	G	A	10: 18,465,414 (GRCm39)	T2143I	probably damaging	Het
Arhgef17	T	C	7: 100,579,950 (GRCm39)	T333A	probably benign	Het
Arhgef40	A	G	14: 52,238,450 (GRCm39)	T1310A	probably benign	Het
Atg10	C	T	13: 91,084,705 (GRCm39)		probably null	Het
Atp1a1	A	G	3: 101,492,169 (GRCm39)	F569S	probably damaging	Het
Baiap3	A	G	17: 25,464,203 (GRCm39)	W849R	possibly damaging	Het
Baz1a	A	T	12: 54,977,097 (GRCm39)	Y9*	probably null	Het
Catsperg2	C	T	7: 29,405,049 (GRCm39)	D702N	possibly damaging	Het
Clasrp	G	T	7: 19,318,226 (GRCm39)		probably benign	Het
Col11a1	G	A	3: 113,932,414 (GRCm39)	R113H	unknown	Het
Col19a1	T	C	1: 24,565,467 (GRCm39)	K288R	unknown	Het
Ctnnbl1	C	T	2: 157,641,337 (GRCm39)		probably benign	Het
Dnah1	T	A	14: 31,025,864 (GRCm39)	I828F	probably benign	Het
Dpf2	G	T	19: 5,957,155 (GRCm39)	Q23K	probably damaging	Het
Dsc3	T	A	18: 20,114,229 (GRCm39)	I342F	probably damaging	Het
Enpp3	A	G	10: 24,671,614 (GRCm39)	L460P	probably damaging	Het
Epb41l2	A	G	10: 25,380,090 (GRCm39)	E871G	probably damaging	Het
Exoc2	T	C	13: 31,040,780 (GRCm39)		probably null	Het
Fam243	G	A	16: 92,118,075 (GRCm39)	S71L	probably benign	Het
Fpr-rs7	A	T	17: 20,333,888 (GRCm39)	S201T	probably benign	Het
Gtf2ird2	T	C	5: 134,245,797 (GRCm39)	F685S	probably damaging	Het
Helz2	C	T	2: 180,882,646 (GRCm39)	R49H	possibly damaging	Het
Ica1	A	G	6: 8,667,375 (GRCm39)		probably benign	Het
Ift56	A	G	6: 38,402,049 (GRCm39)		probably null	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kif21a	A	G	15: 90,881,744 (GRCm39)		probably null	Het
Lamb3	T	A	1: 193,013,216 (GRCm39)	C480*	probably null	Het
Lamc2	A	G	1: 153,027,828 (GRCm39)	S199P	probably damaging	Het
Lrfn3	T	C	7: 30,059,676 (GRCm39)	N183S	probably benign	Het
Lsm14a	C	A	7: 34,070,470 (GRCm39)		probably benign	Het
Mest	C	A	6: 30,742,813 (GRCm39)	H146Q	probably damaging	Het
Mmp27	T	C	9: 7,579,010 (GRCm39)	V339A	probably damaging	Het
Myo16	T	C	8: 10,426,285 (GRCm39)		probably benign	Het
Myoz1	C	T	14: 20,703,679 (GRCm39)		probably benign	Het
Nlrp5	A	G	7: 23,117,133 (GRCm39)	M286V	probably benign	Het
Optc	T	C	1: 133,832,893 (GRCm39)	K69R	probably benign	Het
Or13c3	C	T	4: 52,855,566 (GRCm39)	V316I	probably benign	Het
Or2y1c	A	T	11: 49,361,158 (GRCm39)	Y60F	probably damaging	Het
Or4a77	A	C	2: 89,487,181 (GRCm39)	N201K	possibly damaging	Het
Or8g18	C	T	9: 39,149,725 (GRCm39)	M1I	probably null	Het
Osbpl3	A	T	6: 50,323,357 (GRCm39)	M242K	probably damaging	Het
Pdzd9	T	A	7: 120,267,624 (GRCm39)	S64C	probably damaging	Het
Pik3cg	A	G	12: 32,245,672 (GRCm39)	S859P	possibly damaging	Het
Ppp1r12a	G	T	10: 108,066,414 (GRCm39)	A202S	possibly damaging	Het
Rab32	A	T	10: 10,426,611 (GRCm39)	F112I	possibly damaging	Het
Ror2	T	C	13: 53,267,253 (GRCm39)	Y394C	probably damaging	Het
Rtn3	A	G	19: 7,445,245 (GRCm39)		probably benign	Het
Sbk1	C	T	7: 125,891,007 (GRCm39)	P147L	probably damaging	Het
Shpk	T	A	11: 73,094,857 (GRCm39)	M91K	probably damaging	Het
Slco6c1	C	T	1: 97,055,826 (GRCm39)	S25N	probably benign	Het
Snx2	A	T	18: 53,327,594 (GRCm39)	T107S	probably benign	Het
Tle2	G	A	10: 81,422,148 (GRCm39)	V397I	possibly damaging	Het
Tmem131l	T	C	3: 83,805,724 (GRCm39)	D1573G	probably damaging	Het
Tnfrsf8	A	G	4: 145,011,708 (GRCm39)		probably benign	Het
Tpmt	T	C	13: 47,194,965 (GRCm39)	E36G	probably benign	Het
Trim30c	T	A	7: 104,032,688 (GRCm39)	T257S	probably benign	Het
Tsc2	A	G	17: 24,815,932 (GRCm39)	L150P	probably benign	Het
Upf3a	G	C	8: 13,848,338 (GRCm39)	G378A	possibly damaging	Het
Yeats2	A	T	16: 20,011,966 (GRCm39)	K514*	probably null	Het
Zfp11	A	G	5: 129,734,589 (GRCm39)	Y291H	probably benign	Het
Zfp457	T	C	13: 67,441,378 (GRCm39)	D399G	possibly damaging	Het

Other mutations in Cttnbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00954:Cttnbp2	APN	6	18,381,061 (GRCm39)	missense	possibly damaging	0.71
IGL01014:Cttnbp2	APN	6	18,423,894 (GRCm39)	missense	probably damaging	0.98
IGL01148:Cttnbp2	APN	6	18,382,817 (GRCm39)	missense	probably damaging	1.00
IGL01903:Cttnbp2	APN	6	18,501,964 (GRCm39)	missense	probably damaging	1.00
IGL01906:Cttnbp2	APN	6	18,378,375 (GRCm39)	nonsense	probably null
IGL01994:Cttnbp2	APN	6	18,420,814 (GRCm39)	missense	possibly damaging	0.77
IGL02212:Cttnbp2	APN	6	18,382,748 (GRCm39)	missense	possibly damaging	0.78
IGL02696:Cttnbp2	APN	6	18,434,128 (GRCm39)	missense	probably benign	0.01
IGL02813:Cttnbp2	APN	6	18,367,537 (GRCm39)	missense	possibly damaging	0.94
IGL02864:Cttnbp2	APN	6	18,374,548 (GRCm39)	missense	probably benign	0.21
IGL03309:Cttnbp2	APN	6	18,381,035 (GRCm39)	missense	probably damaging	0.98
Feelers	UTSW	6	18,405,278 (GRCm39)	splice site	probably null
warning	UTSW	6	18,375,952 (GRCm39)	missense	probably damaging	1.00
BB009:Cttnbp2	UTSW	6	18,427,532 (GRCm39)	missense	probably damaging	1.00
BB019:Cttnbp2	UTSW	6	18,427,532 (GRCm39)	missense	probably damaging	1.00
FR4304:Cttnbp2	UTSW	6	18,367,457 (GRCm39)	utr 3 prime	probably benign
FR4449:Cttnbp2	UTSW	6	18,367,461 (GRCm39)	utr 3 prime	probably benign
FR4548:Cttnbp2	UTSW	6	18,367,462 (GRCm39)	utr 3 prime	probably benign
FR4589:Cttnbp2	UTSW	6	18,367,457 (GRCm39)	utr 3 prime	probably benign
FR4976:Cttnbp2	UTSW	6	18,367,466 (GRCm39)	utr 3 prime	probably benign
FR4976:Cttnbp2	UTSW	6	18,367,460 (GRCm39)	utr 3 prime	probably benign
R0165:Cttnbp2	UTSW	6	18,435,409 (GRCm39)	nonsense	probably null
R0382:Cttnbp2	UTSW	6	18,435,342 (GRCm39)	missense	probably benign	0.39
R0464:Cttnbp2	UTSW	6	18,408,690 (GRCm39)	missense	possibly damaging	0.81
R0550:Cttnbp2	UTSW	6	18,435,308 (GRCm39)	missense	possibly damaging	0.89
R0571:Cttnbp2	UTSW	6	18,381,102 (GRCm39)	missense	probably benign
R0627:Cttnbp2	UTSW	6	18,367,372 (GRCm39)	makesense	probably null
R0788:Cttnbp2	UTSW	6	18,423,834 (GRCm39)	missense	probably damaging	1.00
R1319:Cttnbp2	UTSW	6	18,434,629 (GRCm39)	missense	probably benign	0.00
R1476:Cttnbp2	UTSW	6	18,434,220 (GRCm39)	missense	probably damaging	1.00
R1572:Cttnbp2	UTSW	6	18,375,974 (GRCm39)	missense	possibly damaging	0.68
R1596:Cttnbp2	UTSW	6	18,408,591 (GRCm39)	missense	probably damaging	1.00
R1607:Cttnbp2	UTSW	6	18,435,432 (GRCm39)	missense	probably damaging	1.00
R1633:Cttnbp2	UTSW	6	18,435,166 (GRCm39)	missense	probably damaging	1.00
R1634:Cttnbp2	UTSW	6	18,408,656 (GRCm39)	missense	probably benign	0.39
R1661:Cttnbp2	UTSW	6	18,434,982 (GRCm39)	missense	probably benign	0.20
R1665:Cttnbp2	UTSW	6	18,434,982 (GRCm39)	missense	probably benign	0.20
R1834:Cttnbp2	UTSW	6	18,501,965 (GRCm39)	missense	probably damaging	1.00
R1853:Cttnbp2	UTSW	6	18,408,601 (GRCm39)	missense	probably benign	0.00
R1855:Cttnbp2	UTSW	6	18,378,412 (GRCm39)	missense	probably benign
R2018:Cttnbp2	UTSW	6	18,434,517 (GRCm39)	missense	probably damaging	1.00
R2169:Cttnbp2	UTSW	6	18,426,096 (GRCm39)	missense	probably benign	0.00
R2175:Cttnbp2	UTSW	6	18,434,828 (GRCm39)	splice site	probably null
R2202:Cttnbp2	UTSW	6	18,408,693 (GRCm39)	missense	probably benign	0.12
R2203:Cttnbp2	UTSW	6	18,408,693 (GRCm39)	missense	probably benign	0.12
R2204:Cttnbp2	UTSW	6	18,408,693 (GRCm39)	missense	probably benign	0.12
R2205:Cttnbp2	UTSW	6	18,408,693 (GRCm39)	missense	probably benign	0.12
R2371:Cttnbp2	UTSW	6	18,380,603 (GRCm39)	missense	possibly damaging	0.69
R2416:Cttnbp2	UTSW	6	18,448,285 (GRCm39)	missense	probably damaging	0.99
R3414:Cttnbp2	UTSW	6	18,389,204 (GRCm39)	missense	probably benign
R3617:Cttnbp2	UTSW	6	18,414,189 (GRCm39)	missense	probably damaging	1.00
R3861:Cttnbp2	UTSW	6	18,423,832 (GRCm39)	missense	probably benign	0.11
R3862:Cttnbp2	UTSW	6	18,434,905 (GRCm39)	missense	probably benign	0.02
R3940:Cttnbp2	UTSW	6	18,420,974 (GRCm39)	missense	probably benign	0.34
R3941:Cttnbp2	UTSW	6	18,427,452 (GRCm39)	missense	probably benign	0.11
R4097:Cttnbp2	UTSW	6	18,420,871 (GRCm39)	missense	probably benign
R4211:Cttnbp2	UTSW	6	18,427,542 (GRCm39)	missense	probably damaging	1.00
R4353:Cttnbp2	UTSW	6	18,514,703 (GRCm39)	missense	probably benign	0.00
R4367:Cttnbp2	UTSW	6	18,405,248 (GRCm39)	missense	probably damaging	1.00
R4651:Cttnbp2	UTSW	6	18,434,037 (GRCm39)	missense	possibly damaging	0.81
R4652:Cttnbp2	UTSW	6	18,434,037 (GRCm39)	missense	possibly damaging	0.81
R4660:Cttnbp2	UTSW	6	18,406,536 (GRCm39)	missense	probably benign	0.05
R4975:Cttnbp2	UTSW	6	18,406,525 (GRCm39)	missense	possibly damaging	0.91
R5064:Cttnbp2	UTSW	6	18,448,278 (GRCm39)	missense	probably damaging	1.00
R5205:Cttnbp2	UTSW	6	18,427,432 (GRCm39)	splice site	probably benign
R5305:Cttnbp2	UTSW	6	18,381,097 (GRCm39)	missense	probably benign
R5484:Cttnbp2	UTSW	6	18,427,689 (GRCm39)	intron	probably benign
R5629:Cttnbp2	UTSW	6	18,405,217 (GRCm39)	missense	probably damaging	1.00
R5763:Cttnbp2	UTSW	6	18,414,298 (GRCm39)	missense	probably benign	0.00
R5766:Cttnbp2	UTSW	6	18,381,032 (GRCm39)	missense	possibly damaging	0.87
R5942:Cttnbp2	UTSW	6	18,448,439 (GRCm39)	missense	probably damaging	1.00
R6073:Cttnbp2	UTSW	6	18,448,368 (GRCm39)	missense	probably benign	0.01
R6073:Cttnbp2	UTSW	6	18,434,232 (GRCm39)	missense	probably damaging	1.00
R6163:Cttnbp2	UTSW	6	18,434,950 (GRCm39)	missense	possibly damaging	0.91
R6545:Cttnbp2	UTSW	6	18,405,278 (GRCm39)	splice site	probably null
R6858:Cttnbp2	UTSW	6	18,448,452 (GRCm39)	missense	probably damaging	1.00
R7037:Cttnbp2	UTSW	6	18,435,117 (GRCm39)	missense	probably damaging	1.00
R7135:Cttnbp2	UTSW	6	18,448,446 (GRCm39)	missense	possibly damaging	0.95
R7141:Cttnbp2	UTSW	6	18,380,467 (GRCm39)	missense	probably benign	0.00
R7353:Cttnbp2	UTSW	6	18,375,943 (GRCm39)	missense	possibly damaging	0.94
R7465:Cttnbp2	UTSW	6	18,501,991 (GRCm39)	missense	probably damaging	1.00
R7500:Cttnbp2	UTSW	6	18,378,419 (GRCm39)	missense	probably benign	0.00
R7534:Cttnbp2	UTSW	6	18,420,764 (GRCm39)	critical splice donor site	probably null
R7646:Cttnbp2	UTSW	6	18,375,939 (GRCm39)	missense	probably damaging	1.00
R7678:Cttnbp2	UTSW	6	18,382,809 (GRCm39)	missense	probably damaging	1.00
R7699:Cttnbp2	UTSW	6	18,514,734 (GRCm39)	start codon destroyed	possibly damaging	0.82
R7809:Cttnbp2	UTSW	6	18,434,289 (GRCm39)	missense	probably damaging	0.99
R7816:Cttnbp2	UTSW	6	18,448,413 (GRCm39)	missense	probably damaging	1.00
R7817:Cttnbp2	UTSW	6	18,426,092 (GRCm39)	missense	possibly damaging	0.58
R7932:Cttnbp2	UTSW	6	18,427,532 (GRCm39)	missense	probably damaging	1.00
R8010:Cttnbp2	UTSW	6	18,426,092 (GRCm39)	missense	possibly damaging	0.58
R8011:Cttnbp2	UTSW	6	18,426,092 (GRCm39)	missense	possibly damaging	0.58
R8014:Cttnbp2	UTSW	6	18,426,092 (GRCm39)	missense	possibly damaging	0.58
R8015:Cttnbp2	UTSW	6	18,426,092 (GRCm39)	missense	possibly damaging	0.58
R8095:Cttnbp2	UTSW	6	18,435,432 (GRCm39)	missense	probably damaging	1.00
R8754:Cttnbp2	UTSW	6	18,434,037 (GRCm39)	missense	possibly damaging	0.94
R8769:Cttnbp2	UTSW	6	18,376,003 (GRCm39)	missense	probably damaging	1.00
R8836:Cttnbp2	UTSW	6	18,375,952 (GRCm39)	missense	probably damaging	1.00
R8886:Cttnbp2	UTSW	6	18,414,298 (GRCm39)	missense	probably benign	0.00
R8921:Cttnbp2	UTSW	6	18,434,877 (GRCm39)	missense	probably benign	0.10
R8931:Cttnbp2	UTSW	6	18,434,808 (GRCm39)	missense	probably benign	0.00
R8956:Cttnbp2	UTSW	6	18,434,165 (GRCm39)	missense	possibly damaging	0.92
R9005:Cttnbp2	UTSW	6	18,434,430 (GRCm39)	missense	probably damaging	1.00
R9141:Cttnbp2	UTSW	6	18,429,138 (GRCm39)	nonsense	probably null
R9194:Cttnbp2	UTSW	6	18,434,850 (GRCm39)	missense	probably benign	0.00
R9425:Cttnbp2	UTSW	6	18,423,880 (GRCm39)	missense	probably damaging	1.00
R9563:Cttnbp2	UTSW	6	18,427,467 (GRCm39)	nonsense	probably null
R9563:Cttnbp2	UTSW	6	18,367,382 (GRCm39)	missense	probably benign	0.03
R9661:Cttnbp2	UTSW	6	18,429,151 (GRCm39)	missense
R9763:Cttnbp2	UTSW	6	18,435,240 (GRCm39)	missense	probably benign
R9790:Cttnbp2	UTSW	6	18,376,027 (GRCm39)	missense	probably benign	0.03
R9791:Cttnbp2	UTSW	6	18,376,027 (GRCm39)	missense	probably benign	0.03
Z1176:Cttnbp2	UTSW	6	18,408,724 (GRCm39)	missense	possibly damaging	0.94
Z1176:Cttnbp2	UTSW	6	18,408,708 (GRCm39)	missense	probably benign	0.00
Z1176:Cttnbp2	UTSW	6	18,501,959 (GRCm39)	nonsense	probably null
Z1176:Cttnbp2	UTSW	6	18,420,835 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- CAGAAATCCAGGCCAGTGATGGAC -3'
(R):5'- AGCTTTCAGGTTTCCAGGAGCAC -3'

Sequencing Primer
(F):5'- CAGTGATGGACAGCCTGC -3'
(R):5'- CAGGTTTCCAGGAGCACTAGTTATC -3'

Posted On

2013-10-16