Mutagenetix > Incidental Mutation

Incidental Mutation 'R7678:Cttnbp2'

592576

Institutional Source

Beutler Lab

Gene Symbol

Cttnbp2

Ensembl Gene

ENSMUSG00000000416

Gene Name

cortactin binding protein 2

Synonyms

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

MMRRC Submission

045745-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7678 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18366477-18514842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 18382809 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 1320 (L1320I)

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: L1320I

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

SMART Domains

Protein: ENSMUSP00000088089
Gene: ENSMUSG00000000416
AA Change: L1320I

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: L810I

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: 99.7%
20x: 99.2%

Validation Efficiency

99% (67/68)

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
Adam22	C	A	5: 8,137,750 (GRCm39)		probably null	Het
Ank1	A	G	8: 23,607,074 (GRCm39)	D1325G	probably damaging	Het
Asxl1	T	C	2: 153,242,572 (GRCm39)	S1042P	probably damaging	Het
Bpifb1	C	T	2: 154,044,649 (GRCm39)	H39Y	possibly damaging	Het
Capn13	C	A	17: 73,622,300 (GRCm39)	M663I	probably damaging	Het
Cemip2	C	A	19: 21,775,480 (GRCm39)	T241K	probably damaging	Het
Clec2g	A	G	6: 128,956,400 (GRCm39)	E72G	probably damaging	Het
Col12a1	T	A	9: 79,558,768 (GRCm39)	Y1899F	probably damaging	Het
Ctbp2	A	G	7: 132,616,353 (GRCm39)	V194A	probably benign	Het
E2f2	T	A	4: 135,920,137 (GRCm39)	L374*	probably null	Het
Echdc3	C	T	2: 6,217,687 (GRCm39)	G29S	probably benign	Het
Ecm1	A	G	3: 95,643,494 (GRCm39)	S269P	probably damaging	Het
Elmo2	G	A	2: 165,133,664 (GRCm39)	P775S	unknown	Het
Eno3	T	A	11: 70,549,993 (GRCm39)		probably null	Het
Faf1	G	A	4: 109,687,061 (GRCm39)	R267K	probably benign	Het
Fam162a	G	A	16: 35,870,307 (GRCm39)		probably benign	Het
Fam178b	T	A	1: 36,603,532 (GRCm39)	D473V	probably damaging	Het
Fat2	G	A	11: 55,173,156 (GRCm39)	T2519I	probably damaging	Het
Foxc2	A	G	8: 121,844,834 (GRCm39)	Y494C	probably damaging	Het
Gcnt2	C	A	13: 41,107,195 (GRCm39)	Q355K	probably benign	Het
Glg1	G	T	8: 111,905,497 (GRCm39)	H595N	probably benign	Het
Gm9913	A	T	2: 125,348,480 (GRCm39)	H97L	unknown	Het
Hbegf	T	A	18: 36,640,601 (GRCm39)	N152I	possibly damaging	Het
Hipk1	G	A	3: 103,667,866 (GRCm39)	T567I	probably damaging	Het
Idh3a	C	T	9: 54,502,453 (GRCm39)	P78S	probably damaging	Het
Igsf10	A	T	3: 59,226,761 (GRCm39)	M2304K	possibly damaging	Het
Inf2	A	G	12: 112,573,428 (GRCm39)	T723A	unknown	Het
Itpr2	A	T	6: 146,089,048 (GRCm39)	F2220Y	probably benign	Het
Kpnb1	C	T	11: 97,059,999 (GRCm39)	R557Q	probably damaging	Het
Lefty1	A	G	1: 180,764,325 (GRCm39)	D155G	probably damaging	Het
Lrp1	A	G	10: 127,409,922 (GRCm39)	C1554R	probably damaging	Het
Lrrc10	A	G	10: 116,881,662 (GRCm39)	D112G	probably benign	Het
Med12l	A	G	3: 58,984,141 (GRCm39)	E439G	probably damaging	Het
Ms4a7	A	T	19: 11,301,868 (GRCm39)	F185Y	probably benign	Het
Mtmr6	T	A	14: 60,527,101 (GRCm39)	M234K	probably damaging	Het
Myh7b	C	A	2: 155,459,698 (GRCm39)		probably null	Het
Myo1d	T	C	11: 80,567,719 (GRCm39)	M254V	possibly damaging	Het
Nbas	T	C	12: 13,465,662 (GRCm39)	V1368A	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Neb	A	G	2: 52,096,714 (GRCm39)	V4999A	probably damaging	Het
Npbwr1	G	T	1: 5,986,927 (GRCm39)	Q196K	probably benign	Het
Nsd3	A	T	8: 26,149,833 (GRCm39)	E339D	possibly damaging	Het
Oog4	CAA	CA	4: 143,164,022 (GRCm39)		probably null	Het
Or11g1	T	C	14: 50,651,471 (GRCm39)	F157L	probably damaging	Het
Or6c206	A	G	10: 129,096,937 (GRCm39)	S36G	probably damaging	Het
Or7d11	T	C	9: 19,965,901 (GRCm39)	N168S	probably damaging	Het
Plxna1	C	T	6: 89,308,882 (GRCm39)	V1199M	probably damaging	Het
Ppfibp2	T	A	7: 107,315,873 (GRCm39)	M285K	probably damaging	Het
Ppip5k1	A	G	2: 121,168,142 (GRCm39)	Y704H	probably damaging	Het
Ptpn18	G	A	1: 34,512,445 (GRCm39)	D417N	possibly damaging	Het
Sbspon	T	C	1: 15,929,282 (GRCm39)	M170V	probably benign	Het
Scfd2	A	C	5: 74,619,297 (GRCm39)	F440V	probably benign	Het
Slc22a19	T	A	19: 7,688,302 (GRCm39)	D86V	possibly damaging	Het
Smg5	A	G	3: 88,261,202 (GRCm39)	N685S	possibly damaging	Het
Spata46	A	G	1: 170,139,333 (GRCm39)	R111G	possibly damaging	Het
Sry	A	T	Y: 2,663,248 (GRCm39)	D137E	possibly damaging	Het
Tbkbp1	T	C	11: 97,040,309 (GRCm39)	D35G	probably damaging	Het
Tcf20	A	T	15: 82,735,766 (GRCm39)	V1895D	possibly damaging	Het
Tfap4	G	T	16: 4,369,630 (GRCm39)	Q112K	possibly damaging	Het
Trmt10c	T	A	16: 55,855,302 (GRCm39)	D111V	probably benign	Het
Unc80	T	C	1: 66,688,881 (GRCm39)	I2415T	probably benign	Het
Vmn2r107	A	T	17: 20,576,901 (GRCm39)	M300L	probably benign	Het
Vmn2r5	A	T	3: 64,416,943 (GRCm39)	F72I	probably benign	Het
Vmn2r53	T	A	7: 12,332,425 (GRCm39)	H408L	probably benign	Het
Zan	C	T	5: 137,461,802 (GRCm39)	V1126M	unknown	Het
Zfp493	A	T	13: 67,927,814 (GRCm39)		probably benign	Het
Zfp618	C	A	4: 63,004,858 (GRCm39)	A86E	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
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
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'- GCAGTCTTGTCAATAGTCACAGTC -3'
(R):5'- ATATTCAGCTAGATTTGGGCTTTGT -3'

Sequencing Primer
(F):5'- TGGCACCAGAGTTACAGTTC -3'
(R):5'- CTAGATTTGGGCTTTGTGGTTTATC -3'

Posted On

2019-11-12