Mutagenetix > Incidental Mutations

Incidental Mutation 'R7135:Cttnbp2'

552990

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7135 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18366478-18514843 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18448447 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 71 (I71T)

Ref Sequence

ENSEMBL: ENSMUSP00000088089 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090601] [ENSMUST00000129669] [ENSMUST00000142963] [ENSMUST00000148602]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090601
AA Change: I71T

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000088089
Gene: ENSMUSG00000000416
AA Change: I71T

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: ENSMUST00000129669
AA Change: I29T

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000116878
Gene: ENSMUSG00000000416
AA Change: I29T

Domain	Start	End	E-Value	Type
Pfam:CortBP2	1	100	4.6e-44	PFAM
Pfam:CortBP2	92	138	3.2e-13	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142963
AA Change: I29T

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122590
Gene: ENSMUSG00000000416
AA Change: I29T

Domain	Start	End	E-Value	Type
Pfam:CortBP2	1	94	1.8e-43	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000148602
AA Change: I71T

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118432
Gene: ENSMUSG00000000416
AA Change: I71T

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (83/83)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016G14Rik	T	C	13: 24,741,506	S78P	probably benign	Het
Aars2	T	A	17: 45,508,961	Y221*	probably null	Het
AC166344.1	T	A	14: 43,300,788	F97I		Het
Ankmy2	T	C	12: 36,196,312	S412P	probably benign	Het
Ap1s3	T	C	1: 79,609,202	T144A	probably benign	Het
Asb3	T	A	11: 30,998,501	L59*	probably null	Het
Asxl3	G	T	18: 22,517,701	G916*	probably null	Het
Asxl3	G	C	18: 22,517,702	G916A	probably damaging	Het
Birc2	A	C	9: 7,818,761	F610V	probably damaging	Het
Camk4	G	A	18: 33,107,943		probably null	Het
Ccdc162	A	G	10: 41,673,859	S343P	probably benign	Het
Ccnk	T	A	12: 108,186,475	L17Q	probably damaging	Het
Cd59b	G	A	2: 104,084,447	W63*	probably null	Het
Chrm3	C	T	13: 9,877,801	V400I	probably benign	Het
Crb1	C	A	1: 139,243,367	V762F	probably damaging	Het
Cspp1	C	T	1: 10,088,936	T529I	possibly damaging	Het
Cyb561	C	A	11: 105,935,567	G90V	probably damaging	Het
Cyld	T	A	8: 88,744,892	D804E	possibly damaging	Het
Ddx31	G	A	2: 28,848,306	V160I	probably benign	Het
Dgkg	T	C	16: 22,500,382	D643G	probably damaging	Het
Dnah12	G	A	14: 26,778,912		probably null	Het
Dnah12	T	G	14: 26,801,413	I1953S	probably damaging	Het
Dnah7b	T	C	1: 46,139,710	W848R	probably damaging	Het
Dnah7c	C	T	1: 46,533,208	T947M	probably damaging	Het
Dnmt3c	C	A	2: 153,714,952		probably null	Het
Dsp	A	T	13: 38,179,073	Y443F	probably damaging	Het
Espl1	T	A	15: 102,319,524	C1603*	probably null	Het
Faiml	G	T	9: 99,234,443	R65S	probably benign	Het
Gfpt2	T	C	11: 49,804,955	I4T	probably damaging	Het
Gm10376	T	A	14: 43,010,493	M179L	probably benign	Het
Gm13084	A	T	4: 143,810,663	L366Q	probably damaging	Het
Gm4302	T	A	10: 100,341,727	M291K	unknown	Het
Gm8906	C	T	5: 11,505,231	P83S	probably damaging	Het
Gnb1l	T	A	16: 18,545,168	D154E	probably benign	Het
Igkv10-94	T	C	6: 68,704,743	R38G	possibly damaging	Het
Inmt	A	T	6: 55,171,028	Y205*	probably null	Het
Krba1	A	G	6: 48,416,299	Q1049R	probably benign	Het
Lpxn	T	A	19: 12,833,319	C376S	probably damaging	Het
Lrrc52	T	A	1: 167,466,450	I89F	probably damaging	Het
Map9	A	T	3: 82,363,458	T110S	probably benign	Het
Mccc1	T	C	3: 35,995,818	Y75C	probably damaging	Het
Mff	T	A	1: 82,747,091	L203*	probably null	Het
Micall1	C	A	15: 79,109,424	D47E	unknown	Het
Mink1	T	C	11: 70,603,503	F243S	probably damaging	Het
Mlycd	C	T	8: 119,402,477	R228W	probably damaging	Het
Msr1	A	T	8: 39,589,424	V370E	possibly damaging	Het
Naip6	T	C	13: 100,300,419	E532G	probably damaging	Het
Nepn	G	A	10: 52,391,719	C27Y	probably damaging	Het
Ninl	T	C	2: 150,955,604	H592R	probably benign	Het
Nr4a2	A	G	2: 57,112,249	M64T	possibly damaging	Het
Olfr1279	T	A	2: 111,307,020	F272I	probably benign	Het
Olfr484	T	C	7: 108,124,574	K230E	probably damaging	Het
Oprm1	A	T	10: 6,830,203	I171F	possibly damaging	Het
Pcbp1	A	T	6: 86,525,506	M137K	possibly damaging	Het
Pcf11	A	T	7: 92,657,316	S1215T	probably benign	Het
Pdlim5	A	T	3: 142,311,922		probably null	Het
Pecam1	T	C	11: 106,689,031	I402V	probably damaging	Het
Pex12	T	C	11: 83,297,642	T176A	probably benign	Het
Phf3	T	C	1: 30,831,109	K286R	possibly damaging	Het
Pik3ap1	T	A	19: 41,332,321	D153V	probably damaging	Het
Pkhd1l1	T	A	15: 44,584,978		probably null	Het
Plekhn1	A	G	4: 156,223,335	V378A	probably benign	Het
Ptprm	A	T	17: 66,944,288	D531E	possibly damaging	Het
Pum2	A	T	12: 8,728,952	Q508L	possibly damaging	Het
Rad54l	A	G	4: 116,105,830	S324P	probably damaging	Het
Recql5	C	T	11: 115,930,672		probably null	Het
Reln	A	T	5: 21,976,596	V1763D	possibly damaging	Het
Rp1	T	C	1: 4,348,168	N907S	possibly damaging	Het
Scaf11	T	A	15: 96,420,328	N452Y	possibly damaging	Het
Scgb2b3	T	A	7: 31,360,214	H45L	possibly damaging	Het
Sim1	A	G	10: 50,895,927	T11A	probably damaging	Het
Slc5a12	T	A	2: 110,616,714	M189K	possibly damaging	Het
Slco2b1	C	T	7: 99,695,063	G10S	probably null	Het
Stxbp3	A	G	3: 108,800,755	L410P	probably damaging	Het
Sugct	T	C	13: 17,302,009	N297D	probably benign	Het
Syne1	A	G	10: 5,233,409	I4132T	probably benign	Het
Teddm1b	A	T	1: 153,875,166	L240F	probably damaging	Het
Tlr5	C	A	1: 182,975,523	D797E	possibly damaging	Het
Tmprss13	G	T	9: 45,338,345	G327C	probably damaging	Het
Tnrc18	G	T	5: 142,787,817	A419D		Het
Ttc28	T	C	5: 111,280,007	Y1790H	probably damaging	Het
Vmn1r125	T	G	7: 21,272,402	M75R	probably damaging	Het
Vwa3a	T	A	7: 120,773,030	D276E	possibly damaging	Het
Wdfy3	C	T	5: 101,915,437	V1322M	probably damaging	Het
Wdr11	T	C	7: 129,628,106	S872P	possibly damaging	Het
Zc3h13	T	C	14: 75,321,721	S357P	unknown	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
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	unclassified	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	intron	probably null
R6858:Cttnbp2	UTSW	6	18448453	missense	probably damaging	1.00
R7037:Cttnbp2	UTSW	6	18435118	missense	probably damaging	1.00
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
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
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
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'- AACAGATGACGTCTCAGTACC -3'
(R):5'- CTTTCCAGGCTTGTCAGGAC -3'

Sequencing Primer
(F):5'- CTCTCAGCGGCCACCAG -3'
(R):5'- CTTGTCAGGACTGGGGCTC -3'

Posted On

2019-05-15