Mutagenetix > Incidental Mutation

Incidental Mutation 'R1572:Cttnbp2'

170834

Institutional Source

Beutler Lab

Gene Symbol

Cttnbp2

Ensembl Gene

ENSMUSG00000000416

Gene Name

cortactin binding protein 2

Synonyms

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

MMRRC Submission

039611-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1572 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18366478-18514843 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18375975 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 1522 (S1522G)

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: S1522G

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000088089
Gene: ENSMUSG00000000416
AA Change: S1522G

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: ENSMUST00000146775
AA Change: S1012G

SMART Domains

Protein: ENSMUSP00000119383
Gene: ENSMUSG00000000416
AA Change: S1012G

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

0.0621

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 92.9%
20x: 80.7%

Validation Efficiency

97% (130/134)

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310030G06Rik	G	A	9: 50,740,673	T85M	probably damaging	Het
5430419D17Rik	T	A	7: 131,244,831	Y777*	probably null	Het
Actn1	A	G	12: 80,172,957		probably benign	Het
Afap1l1	A	T	18: 61,737,499	S603T	probably damaging	Het
Ahcy	T	C	2: 155,068,931	Y39C	probably benign	Het
Ankmy2	T	C	12: 36,186,942		probably null	Het
Anxa13	A	T	15: 58,348,807		noncoding transcript	Het
Aoc1	T	C	6: 48,905,786	S221P	possibly damaging	Het
Arhgef10	C	A	8: 14,991,211	A770D	possibly damaging	Het
Arhgef19	A	G	4: 141,254,754	D707G	probably benign	Het
Arhgef3	G	A	14: 27,401,735	R444H	probably damaging	Het
Asphd1	T	C	7: 126,949,099	I11V	probably benign	Het
Atp2b1	A	G	10: 98,994,675	M333V	probably benign	Het
BC051665	T	C	13: 60,785,027	Y40C	probably damaging	Het
Ccdc87	T	A	19: 4,840,313	S278T	probably benign	Het
Chaf1b	G	A	16: 93,901,230	G463D	possibly damaging	Het
Chrna4	T	C	2: 181,029,307	T219A	possibly damaging	Het
Clcnkb	T	G	4: 141,407,095	T584P	possibly damaging	Het
Clptm1l	T	C	13: 73,607,747	S161P	probably benign	Het
Cmya5	T	C	13: 93,094,269	E1437G	possibly damaging	Het
Col13a1	A	T	10: 61,866,426		probably null	Het
Col3a1	T	C	1: 45,345,968	S82P	possibly damaging	Het
Cpeb3	A	T	19: 37,139,082	M383K	probably benign	Het
Cr2	T	A	1: 195,163,314	H111L	probably damaging	Het
Cul3	T	C	1: 80,282,789	D281G	possibly damaging	Het
Cyp2c70	T	G	19: 40,183,982	K72T	probably benign	Het
Cyp39a1	A	T	17: 43,680,129	I110F	probably damaging	Het
Cyp46a1	T	A	12: 108,351,939	M203K	probably null	Het
Cyp8b1	A	T	9: 121,914,958	V436D	possibly damaging	Het
Ddx17	T	C	15: 79,538,565	D324G	probably damaging	Het
Dopey2	A	G	16: 93,770,153	N1274S	probably damaging	Het
Dscaml1	G	A	9: 45,721,333	V1166I	probably benign	Het
Dsp	T	C	13: 38,195,738	V1554A	probably damaging	Het
Dusp27	C	T	1: 166,099,455	V863M	possibly damaging	Het
Efr3a	T	A	15: 65,854,792		probably null	Het
Egfem1	A	T	3: 29,648,271	N223I	probably benign	Het
Egr2	T	C	10: 67,539,975	S147P	probably damaging	Het
Elmo3	A	G	8: 105,308,301	T408A	probably benign	Het
Flnb	A	G	14: 7,883,908	D378G	probably damaging	Het
Foxj2	T	A	6: 122,833,261	M193K	probably benign	Het
Gm6327	A	G	16: 12,760,156		noncoding transcript	Het
Gm7694	T	C	1: 170,302,766	H21R	probably benign	Het
Gpr107	A	G	2: 31,167,025	D43G	probably damaging	Het
Grid2	T	A	6: 64,429,694	Y679*	probably null	Het
Grin2c	G	A	11: 115,256,074	P432S	possibly damaging	Het
H2-M10.1	A	G	17: 36,325,733	F60L	possibly damaging	Het
Hectd4	A	G	5: 121,301,878	D1147G	possibly damaging	Het
Idua	G	T	5: 108,680,589	A223S	probably benign	Het
Ifi206	T	C	1: 173,486,853	Q7R	probably benign	Het
Itgad	T	A	7: 128,203,234	V986E	probably damaging	Het
Itsn2	G	A	12: 4,650,044	R670H	probably benign	Het
Kdm4a	T	C	4: 118,138,949	E961G	possibly damaging	Het
Klra5	T	A	6: 129,906,622	I91L	probably damaging	Het
Kntc1	A	G	5: 123,772,113	T525A	probably damaging	Het
Lct	A	G	1: 128,294,195	F1536L	probably benign	Het
Lmod1	T	A	1: 135,363,933	D175E	probably benign	Het
Lonrf1	A	C	8: 36,233,972	D361E	probably benign	Het
Lrrc19	T	C	4: 94,638,429	Y297C	probably damaging	Het
Mast4	T	C	13: 102,736,923	E1787G	possibly damaging	Het
Mpp2	G	A	11: 102,060,548	A452V	probably benign	Het
Msh2	T	C	17: 87,718,652	V686A	possibly damaging	Het
Mthfd1	C	T	12: 76,270,419	Q15*	probably null	Het
Mtnr1b	A	T	9: 15,863,142	I207N	probably damaging	Het
Nid2	A	G	14: 19,805,412	T1207A	probably benign	Het
Nin	A	T	12: 70,038,750	V1569D	probably damaging	Het
Nov	T	A	15: 54,749,252	M219K	possibly damaging	Het
Nrcam	T	A	12: 44,537,364		probably benign	Het
Nsd1	T	A	13: 55,246,969	H897Q	probably damaging	Het
Olfr102	A	T	17: 37,313,480	N301K	probably benign	Het
Olfr1364	T	A	13: 21,574,310	I49F	possibly damaging	Het
Olfr77	G	T	9: 19,920,912	K234N	probably benign	Het
Olfr979	A	G	9: 40,001,194	F11S	probably benign	Het
Paip1	T	C	13: 119,451,784		probably benign	Het
Pcnx3	G	A	19: 5,685,347	R484*	probably null	Het
Pdxk	A	G	10: 78,447,980	Y127H	probably damaging	Het
Phf20	T	A	2: 156,287,834	V442E	probably benign	Het
Phlpp1	G	A	1: 106,392,789	D1505N	probably damaging	Het
Pkhd1	T	C	1: 20,347,440	T2496A	probably benign	Het
Pkhd1l1	A	G	15: 44,543,473	T2369A	probably benign	Het
Plod2	T	A	9: 92,603,067		probably benign	Het
Pnpla7	T	A	2: 25,015,251	M617K	possibly damaging	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Prkch	T	A	12: 73,649,357		probably null	Het
Prr12	G	A	7: 45,028,800	H1974Y	unknown	Het
Prr16	A	G	18: 51,302,970	I174V	probably benign	Het
Prss45	A	T	9: 110,838,429	T39S	probably benign	Het
Pum1	T	A	4: 130,718,204	D161E	probably damaging	Het
Rad51ap2	A	G	12: 11,457,112	D345G	probably damaging	Het
Ralgapb	A	G	2: 158,446,199		probably benign	Het
Rasgrp3	A	G	17: 75,500,734	H262R	possibly damaging	Het
Rnf213	T	A	11: 119,436,611	I1809N	probably damaging	Het
Ryr1	A	G	7: 29,062,191	L3177P	probably damaging	Het
Scyl2	C	A	10: 89,650,956	R230L	probably damaging	Het
Sfxn2	T	C	19: 46,582,476		probably benign	Het
Slc18b1	T	C	10: 23,798,741		probably benign	Het
Spata31d1d	T	C	13: 59,728,191	H510R	probably benign	Het
Stab1	A	T	14: 31,150,823	N1109K	probably damaging	Het
Sult3a2	A	G	10: 33,781,977	S47P	probably damaging	Het
Tenm3	T	C	8: 48,228,993	N2518S	possibly damaging	Het
Tex21	G	T	12: 76,206,891	P416Q	probably benign	Het
Tex38	T	C	4: 115,780,306	N100S	probably benign	Het
Thsd4	A	C	9: 60,394,553		probably benign	Het
Ticrr	T	C	7: 79,681,824	V723A	probably damaging	Het
Tmprss15	A	G	16: 79,090,829	V30A	probably benign	Het
Uba3	A	G	6: 97,185,337		probably benign	Het
Ubr1	T	C	2: 120,935,319		probably benign	Het
Uchl4	A	T	9: 64,235,731	I165L	probably benign	Het
Vmn2r112	A	T	17: 22,603,144	T268S	possibly damaging	Het
Wfdc3	T	C	2: 164,744,194		probably benign	Het
Zfp282	T	A	6: 47,892,867	L282Q	probably damaging	Het
Zfp422	A	T	6: 116,626,784	C85S	probably damaging	Het
Zfp790	A	T	7: 29,828,139	Q83L	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
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
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'- GAGCAAAGCAAAGGATGACTCGATCTAT -3'
(R):5'- GGCTGTTGTTGCACTGGATGACT -3'

Sequencing Primer
(F):5'- GGATGACTCGATCTATAGCATCAAC -3'
(R):5'- TCTCAAAGTTCAGAAGGTAGAGTGTC -3'

Posted On

2014-04-13