Mutagenetix > Incidental Mutation

Incidental Mutation 'R7353:Cttnbp2'

570732

Institutional Source

Beutler Lab

Gene Symbol

Cttnbp2

Ensembl Gene

ENSMUSG00000000416

Gene Name

cortactin binding protein 2

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7353 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18366478-18514843 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18375944 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 1532 (I1532K)

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: I1532K

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000088089
Gene: ENSMUSG00000000416
AA Change: I1532K

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

SMART Domains

Protein: ENSMUSP00000119383
Gene: ENSMUSG00000000416
AA Change: I1022K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	C	A	13: 119,488,178	A11S	unknown	Het
Aadacl4	G	A	4: 144,617,920	V89I	probably damaging	Het
Abcc9	T	A	6: 142,601,005	I1369F	probably damaging	Het
Adgrf3	T	A	5: 30,198,497	I427F	probably damaging	Het
Alox12e	T	C	11: 70,321,435	Y139C	probably damaging	Het
Arhgef2	T	A	3: 88,635,686	V397E	possibly damaging	Het
Arhgef28	T	A	13: 98,075,202	Y91F	probably damaging	Het
Bcar3	A	G	3: 122,512,692	T454A	probably benign	Het
Bicc1	G	T	10: 70,947,900	T469K	probably benign	Het
Boc	C	T	16: 44,485,737	V1070M	unknown	Het
Ccdc88a	T	A	11: 29,463,368	N635K	probably benign	Het
Ccr2	T	C	9: 124,106,756	S358P	probably damaging	Het
Ccser2	T	C	14: 36,941,143	Q28R	possibly damaging	Het
Cenpf	T	A	1: 189,654,138	K1982*	probably null	Het
Csn1s2a	A	T	5: 87,785,302	I137F	possibly damaging	Het
Dnajc13	C	A	9: 104,230,031	R304L	possibly damaging	Het
Dopey1	T	A	9: 86,512,859	M664K	probably damaging	Het
Emilin3	T	A	2: 160,908,821	E336V	probably damaging	Het
Eml5	A	G	12: 98,825,424	Y63H		Het
Fbxo41	G	T	6: 85,479,976	R404S	possibly damaging	Het
Gm8897	G	A	5: 11,416,436	D7N	possibly damaging	Het
Gpr155	A	T	2: 73,367,491	Y456*	probably null	Het
Gpr156	T	A	16: 37,992,161	N286K	probably damaging	Het
Kcna5	A	G	6: 126,534,845	S107P	probably benign	Het
Kcne2	A	T	16: 92,296,822	H79L	possibly damaging	Het
Kcnh4	T	A	11: 100,757,199	M113L	probably benign	Het
Lad1	T	A	1: 135,827,775	L263Q	probably damaging	Het
Lctl	G	A	9: 64,126,967	G296D	probably damaging	Het
Lmtk3	A	T	7: 45,788,000	I205F	possibly damaging	Het
Magel2	G	T	7: 62,379,331	R661L	unknown	Het
Mcm10	G	A	2: 5,007,109	P180S	possibly damaging	Het
Mia3	G	T	1: 183,327,392	A446D		Het
N4bp2	G	A	5: 65,806,371	V588M	probably benign	Het
Naip6	C	T	13: 100,299,751	V755M	probably benign	Het
Neurl1a	T	C	19: 47,240,660	V213A	probably damaging	Het
Nrd1	A	G	4: 109,039,749	T522A	probably damaging	Het
Ntng1	T	C	3: 110,135,447	Q21R	probably damaging	Het
Nup160	T	C	2: 90,703,952	L707S	probably damaging	Het
Oas2	A	T	5: 120,738,522	V452D	probably damaging	Het
Olfr3	A	G	2: 36,812,903	L63P	probably damaging	Het
Olfr350	A	T	2: 36,850,069	M8L	probably benign	Het
Olfr351	G	A	2: 36,859,668	R227*	probably null	Het
Olfr519	A	G	7: 108,894,222	F67L	probably damaging	Het
Olfr593	A	C	7: 103,212,309	T150P	probably damaging	Het
Plekhg1	A	T	10: 3,964,327	T1405S		Het
Pnrc1	G	A	4: 33,248,300	P33L	probably damaging	Het
Prkag2	A	T	5: 24,880,686	V312E	possibly damaging	Het
Rps17	T	A	7: 81,344,345	E76V	possibly damaging	Het
Rsph10b	G	A	5: 143,967,220	G672S	possibly damaging	Het
Slc2a13	T	C	15: 91,321,604	N460S	probably benign	Het
Slco2b1	A	T	7: 99,690,557	C56S	possibly damaging	Het
Spn	T	C	7: 127,137,006	T110A	probably benign	Het
Sult2a8	T	C	7: 14,413,715	N217S	possibly damaging	Het
Tbx2	C	A	11: 85,833,489	T128N	probably damaging	Het
Tecpr2	A	T	12: 110,967,844	M1313L	probably benign	Het
Tmc2	G	A	2: 130,196,577		probably null	Het
Tstd1	G	T	1: 171,419,955	A69S	probably damaging	Het
Txnrd3	A	G	6: 89,661,585	D252G	probably benign	Het
Ulk2	T	C	11: 61,819,348	N345D	probably damaging	Het
Unc13c	T	C	9: 73,574,073	D1694G	probably benign	Het
Vill	T	C	9: 119,065,493	V406A	probably damaging	Het
Vmn2r115	T	C	17: 23,345,913	V258A	possibly damaging	Het
Vmn2r82	T	A	10: 79,396,618	M817K	probably benign	Het
Xpnpep3	T	C	15: 81,430,887	S263P	probably benign	Het
Zfp980	A	G	4: 145,702,144	D481G	probably benign	Het
Zmpste24	A	G	4: 121,095,581	S81P	probably damaging	Het
Znrf4	A	G	17: 56,512,169	V46A	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
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
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'- TGGCTTGGGAGAAATGAATCC -3'
(R):5'- CAGAAGGTAGAGTGTCTAGAGTTC -3'

Sequencing Primer
(F):5'- CTTGGGAGAAATGAATCCAAGCAAAG -3'
(R):5'- TCTATTTGATAACTGGTTTGTTCCC -3'

Posted On

2019-09-13