Mutagenetix > Incidental Mutation

Incidental Mutation 'R1596:Cttnbp2'

175796

Institutional Source

Beutler Lab

Gene Symbol

Cttnbp2

Ensembl Gene

ENSMUSG00000000416

Gene Name

cortactin binding protein 2

Synonyms

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

MMRRC Submission

039633-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1596 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18366477-18514842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18408591 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 1010 (F1010S)

Ref Sequence

ENSEMBL: ENSMUSP00000088089 (fasta)

Gene Model

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

AlphaFold

B9EJA2

Predicted Effect

probably damaging
Transcript: ENSMUST00000090601
AA Change: F1010S

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

SMART Domains

Protein: ENSMUSP00000088089
Gene: ENSMUSG00000000416
AA Change: F1010S

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

unknown
Transcript: ENSMUST00000141581
AA Change: F34S

SMART Domains

Protein: ENSMUSP00000123162
Gene: ENSMUSG00000000416
AA Change: F34S

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

Predicted Effect

unknown
Transcript: ENSMUST00000146775
AA Change: F500S

SMART Domains

Protein: ENSMUSP00000119383
Gene: ENSMUSG00000000416
AA Change: F500S

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

Meta Mutation Damage Score

0.4948

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.9%
20x: 87.7%

Validation Efficiency

97% (70/72)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	A	G	15: 37,426,018 (GRCm39)		probably benign	Het
Abca8a	T	A	11: 109,958,886 (GRCm39)	Y745F	possibly damaging	Het
Abl1	A	G	2: 31,680,350 (GRCm39)	N316S	probably damaging	Het
Ackr2	T	C	9: 121,738,278 (GRCm39)	F218L	probably damaging	Het
Adam6b	T	A	12: 113,454,646 (GRCm39)	Y488N	probably damaging	Het
Arhgap10	A	G	8: 78,177,326 (GRCm39)	I103T	possibly damaging	Het
Atm	A	G	9: 53,364,678 (GRCm39)	V2669A	probably damaging	Het
Atp10b	A	G	11: 43,126,594 (GRCm39)	K1117E	probably damaging	Het
Brinp3	T	C	1: 146,390,520 (GRCm39)	V22A	probably benign	Het
Casp8	G	T	1: 58,870,833 (GRCm39)		probably benign	Het
Ccdc178	T	A	18: 22,153,930 (GRCm39)	K626N	possibly damaging	Het
Clcn6	T	A	4: 148,107,836 (GRCm39)	S193C	probably damaging	Het
Col11a1	C	T	3: 113,946,262 (GRCm39)		probably benign	Het
Csn1s2b	T	A	5: 87,966,917 (GRCm39)		probably benign	Het
Cst5	T	C	2: 149,247,329 (GRCm39)	V15A	unknown	Het
Dlg2	T	C	7: 92,080,259 (GRCm39)	V614A	probably damaging	Het
Dsg1c	A	G	18: 20,415,104 (GRCm39)	Y667C	probably damaging	Het
Ep400	A	T	5: 110,856,727 (GRCm39)		probably benign	Het
Fam83c	C	T	2: 155,672,982 (GRCm39)		probably null	Het
Fbxw20	C	T	9: 109,050,368 (GRCm39)	C419Y	probably damaging	Het
Fgd2	G	A	17: 29,595,904 (GRCm39)	V521I	probably benign	Het
Frrs1	A	G	3: 116,676,848 (GRCm39)		probably benign	Het
Gli3	C	A	13: 15,900,056 (GRCm39)	Q1148K	possibly damaging	Het
Hdac5	G	T	11: 102,095,482 (GRCm39)		probably null	Het
Ice1	C	T	13: 70,753,014 (GRCm39)	R1024H	possibly damaging	Het
Irak3	A	T	10: 120,018,451 (GRCm39)	I99N	probably damaging	Het
Klhl31	A	G	9: 77,557,356 (GRCm39)	D24G	probably damaging	Het
Lrba	C	T	3: 86,257,611 (GRCm39)	Q1292*	probably null	Het
Map1a	C	T	2: 121,120,246 (GRCm39)	A44V	probably benign	Het
Mbd2	T	A	18: 70,749,703 (GRCm39)	M306K	probably damaging	Het
Mrc1	C	T	2: 14,253,701 (GRCm39)	H241Y	possibly damaging	Het
Mrgprg	A	G	7: 143,318,431 (GRCm39)	F227S	possibly damaging	Het
Ncapg2	T	A	12: 116,382,856 (GRCm39)	L229H	probably damaging	Het
Ncf4	G	A	15: 78,134,637 (GRCm39)	E30K	probably damaging	Het
Nlrp4c	C	A	7: 6,069,777 (GRCm39)	D559E	probably benign	Het
Nxpe4	T	A	9: 48,307,855 (GRCm39)	W320R	probably damaging	Het
Or10a3n	T	A	7: 108,493,086 (GRCm39)	H176L	probably damaging	Het
Or52n4b	T	A	7: 108,144,290 (GRCm39)	M184K	possibly damaging	Het
Or6z5	T	C	7: 6,477,514 (GRCm39)	L135P	probably damaging	Het
Pdzrn3	A	G	6: 101,127,966 (GRCm39)	V900A	probably benign	Het
Prcp	T	C	7: 92,567,042 (GRCm39)		probably benign	Het
Prkaa2	A	T	4: 104,893,526 (GRCm39)	D474E	probably damaging	Het
Prl3a1	A	G	13: 27,443,600 (GRCm39)		probably benign	Het
Ptpra	T	A	2: 130,386,872 (GRCm39)	Y624N	probably damaging	Het
Ramp1	T	C	1: 91,151,022 (GRCm39)	V129A	possibly damaging	Het
Reep1	G	T	6: 71,733,421 (GRCm39)		probably null	Het
Robo3	C	T	9: 37,335,928 (GRCm39)		probably null	Het
Sapcd2	T	A	2: 25,266,422 (GRCm39)	I403N	probably damaging	Het
Sdk2	T	A	11: 113,729,435 (GRCm39)		probably benign	Het
Serpinb3a	T	C	1: 106,974,904 (GRCm39)	M210V	probably benign	Het
Slc45a3	T	A	1: 131,909,267 (GRCm39)	I488N	probably damaging	Het
Tnrc6c	C	T	11: 117,648,867 (GRCm39)	P1513S	probably damaging	Het
Trank1	T	A	9: 111,195,358 (GRCm39)	H1127Q	possibly damaging	Het
Trim67	T	C	8: 125,552,878 (GRCm39)	V660A	probably damaging	Het
Ubash3b	A	G	9: 40,942,793 (GRCm39)	I233T	probably benign	Het
Unkl	A	G	17: 25,424,707 (GRCm39)	R245G	probably null	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
R0826:Cttnbp2	UTSW	6	18,405,177 (GRCm39)	splice site	probably benign
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
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'- TATCAGGCTGTGAAGCCCACAGAC -3'
(R):5'- AGACTGGGAAACCAGTATTTGCTGC -3'

Sequencing Primer
(F):5'- TGAAGCCCACAGACACAAATAAAC -3'
(R):5'- AAGGCTGTTTCTAAACTTCCATC -3'

Posted On

2014-04-24