Mutagenetix > Incidental Mutation

Incidental Mutation 'R1607:Cttnbp2'

176547

Institutional Source

Beutler Lab

Gene Symbol

Cttnbp2

Ensembl Gene

ENSMUSG00000000416

Gene Name

cortactin binding protein 2

Synonyms

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

MMRRC Submission

039644-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1607 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18366477-18514842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18435432 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 142 (K142M)

Ref Sequence

ENSEMBL: ENSMUSP00000118432 (fasta)

Gene Model

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

AlphaFold

B9EJA2

Predicted Effect

probably damaging
Transcript: ENSMUST00000090601
AA Change: K142M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088089
Gene: ENSMUSG00000000416
AA Change: K142M

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 damaging
Transcript: ENSMUST00000129669
AA Change: K100M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116878
Gene: ENSMUSG00000000416
AA Change: K100M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139557

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 damaging
Transcript: ENSMUST00000148602
AA Change: K142M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118432
Gene: ENSMUSG00000000416
AA Change: K142M

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: ENSMUST00000202396

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.5%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	C	T	7: 119,850,514 (GRCm39)	P789S	probably damaging	Het
Adam17	T	A	12: 21,384,139 (GRCm39)		probably null	Het
Afdn	C	T	17: 14,030,763 (GRCm39)	R224W	probably damaging	Het
Als2	A	G	1: 59,219,306 (GRCm39)	Y1215H	probably damaging	Het
Anks1b	A	T	10: 89,878,410 (GRCm39)	D73V	probably damaging	Het
Bpifb6	T	C	2: 153,748,781 (GRCm39)	F259S	probably damaging	Het
Cenpv	A	T	11: 62,416,002 (GRCm39)	M249K	probably benign	Het
Ces1d	C	T	8: 93,912,746 (GRCm39)	V231I	probably benign	Het
Clasp1	G	A	1: 118,432,689 (GRCm39)	V460I	probably damaging	Het
Cnot10	A	T	9: 114,458,163 (GRCm39)	Y114*	probably null	Het
Cpb1	G	T	3: 20,317,946 (GRCm39)	R193S	probably benign	Het
Ctc1	T	C	11: 68,926,976 (GRCm39)	S1207P	possibly damaging	Het
Dhrs7b	T	G	11: 60,742,717 (GRCm39)	D136E	probably benign	Het
Dnah7b	T	C	1: 46,329,806 (GRCm39)	S3217P	probably damaging	Het
Eif4g3	C	T	4: 137,853,874 (GRCm39)	S480L	probably benign	Het
Enah	A	T	1: 181,744,762 (GRCm39)		probably null	Het
Epx	T	C	11: 87,759,538 (GRCm39)	D517G	probably damaging	Het
Gabrg2	T	A	11: 41,867,490 (GRCm39)	D43V	probably damaging	Het
Gdf9	A	T	11: 53,328,338 (GRCm39)	E431D	possibly damaging	Het
Ghr	T	C	15: 3,350,056 (GRCm39)	D374G	probably damaging	Het
Gin1	A	T	1: 97,713,875 (GRCm39)	I392F	probably damaging	Het
Greb1l	A	G	18: 10,529,703 (GRCm39)	E786G	possibly damaging	Het
Grk4	T	C	5: 34,888,882 (GRCm39)	V342A	probably benign	Het
Hhipl2	A	T	1: 183,204,432 (GRCm39)	Y135F	possibly damaging	Het
Insig1	C	T	5: 28,276,706 (GRCm39)	R91W	probably damaging	Het
Kcnf1	C	G	12: 17,225,733 (GRCm39)	D163H	probably benign	Het
Kif11	A	T	19: 37,375,648 (GRCm39)	K190*	probably null	Het
Ldb2	T	G	5: 44,630,814 (GRCm39)	E309A	probably damaging	Het
Lipo4	T	G	19: 33,490,073 (GRCm39)	D143A	probably damaging	Het
Map3k6	T	G	4: 132,979,784 (GRCm39)	I1261S	probably damaging	Het
Mtus1	C	T	8: 41,468,446 (GRCm39)	V27I	possibly damaging	Het
Ndufaf2	C	T	13: 108,228,107 (GRCm39)	V60I	probably benign	Het
Nup133	A	G	8: 124,675,774 (GRCm39)	F48L	probably benign	Het
Or1i2	G	T	10: 78,447,974 (GRCm39)	T167N	probably benign	Het
Or2w4	A	C	13: 21,795,934 (GRCm39)	F68L	probably benign	Het
Or5w11	T	A	2: 87,459,321 (GRCm39)	N171K	probably benign	Het
Pcdhb21	A	T	18: 37,648,532 (GRCm39)	N554Y	probably damaging	Het
Pcx	A	T	19: 4,653,187 (GRCm39)	D284V	possibly damaging	Het
Pcyt1a	T	C	16: 32,285,937 (GRCm39)	S203P	probably damaging	Het
Pdlim3	A	T	8: 46,349,896 (GRCm39)	I69F	probably damaging	Het
Pkp4	T	C	2: 59,152,898 (GRCm39)	V598A	probably benign	Het
Plbd1	T	C	6: 136,589,304 (GRCm39)	I509V	probably benign	Het
Polr3b	C	A	10: 84,488,647 (GRCm39)	T319N	probably benign	Het
Ptprj	T	C	2: 90,293,664 (GRCm39)	D380G	probably benign	Het
Ralgapa1	T	G	12: 55,788,321 (GRCm39)	R587S	probably damaging	Het
Scn5a	C	A	9: 119,315,158 (GRCm39)	R1850L	probably damaging	Het
Ssc5d	C	A	7: 4,947,042 (GRCm39)	T1132K	probably benign	Het
Stard7	T	A	2: 127,137,406 (GRCm39)	N285K	possibly damaging	Het
Tcp11l2	C	T	10: 84,449,351 (GRCm39)	R439W	probably damaging	Het
Tecrl	T	C	5: 83,428,355 (GRCm39)		probably null	Het
Tep1	A	T	14: 51,062,020 (GRCm39)	L2570Q	probably null	Het
Tex14	A	T	11: 87,445,754 (GRCm39)	D191V	probably damaging	Het
Tm7sf2	A	G	19: 6,113,049 (GRCm39)		probably null	Het
Tmem132e	A	G	11: 82,328,196 (GRCm39)	K408R	probably benign	Het
Tube1	A	G	10: 39,020,762 (GRCm39)	D216G	possibly damaging	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Vmn2r82	A	G	10: 79,215,253 (GRCm39)	H412R	possibly damaging	Het
Wtip	T	C	7: 33,816,020 (GRCm39)	E352G	probably damaging	Het
Xirp2	T	A	2: 67,340,639 (GRCm39)	L960*	probably null	Het
Zc3h11a	A	C	1: 133,552,425 (GRCm39)	S561A	probably benign	Het
Zfhx2	A	T	14: 55,300,442 (GRCm39)	D2436E	probably damaging	Het
Zfp763	T	C	17: 33,238,881 (GRCm39)	H88R	probably benign	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
R1596:Cttnbp2	UTSW	6	18,408,591 (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'- AACTGAGCTTCCATTCCAGAGCTTC -3'
(R):5'- TCTGTGCTGTGACTTGAAACACCC -3'

Sequencing Primer
(F):5'- AGCTGAGAGCTGCTCTTCTAAC -3'
(R):5'- GCTGTGACTTGAAACACCCTATTAC -3'

Posted On

2014-04-24