Mutagenetix > Incidental Mutation

Incidental Mutation 'R8754:Cttnbp2'

664030

Institutional Source

Beutler Lab

Gene Symbol

Cttnbp2

Ensembl Gene

ENSMUSG00000000416

Gene Name

cortactin binding protein 2

Synonyms

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

MMRRC Submission

068620-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8754 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18366477-18514842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 18434037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Arginine at position 607 (I607R)

Ref Sequence

ENSEMBL: ENSMUSP00000088089 (fasta)

Gene Model

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

AlphaFold

B9EJA2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090601
AA Change: I607R

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000088089
Gene: ENSMUSG00000000416
AA Change: I607R

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 benign
Transcript: ENSMUST00000129669

SMART Domains

Protein: ENSMUSP00000116878
Gene: ENSMUSG00000000416

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000119383
Gene: ENSMUSG00000000416
AA Change: I138R

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: I607R

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118432
Gene: ENSMUSG00000000416
AA Change: I607R

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: 99.3%
20x: 97.5%

Validation Efficiency

100% (67/67)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,771,798 (GRCm39)	V329A	probably benign	Het
A830018L16Rik	G	T	1: 11,615,472 (GRCm39)	K148N	probably benign	Het
Actn3	A	G	19: 4,913,488 (GRCm39)	F648L	probably damaging	Het
Amotl2	A	G	9: 102,597,358 (GRCm39)	D39G	possibly damaging	Het
Anks1	C	A	17: 28,214,984 (GRCm39)	T477K	possibly damaging	Het
Brix1	A	T	15: 10,476,664 (GRCm39)	S271T	probably benign	Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Cdc40	C	T	10: 40,717,480 (GRCm39)	D404N	probably damaging	Het
Chrna6	T	C	8: 27,897,229 (GRCm39)	H216R	probably damaging	Het
Col6a3	C	G	1: 90,695,328 (GRCm39)		probably benign	Het
Copa	C	T	1: 171,935,926 (GRCm39)	R423W	probably damaging	Het
Depdc5	A	T	5: 33,136,881 (GRCm39)	T1384S	probably benign	Het
Dlat	G	T	9: 50,560,967 (GRCm39)	A360E	probably damaging	Het
Dusp26	C	T	8: 31,581,805 (GRCm39)		probably benign	Het
Eif1ad13	T	A	12: 87,762,569 (GRCm39)	N96K	possibly damaging	Het
Fam135a	G	A	1: 24,067,569 (GRCm39)	T1100M	probably benign	Het
Fuca1	T	C	4: 135,652,889 (GRCm39)	L171P	probably damaging	Het
Gpr158	G	A	2: 21,581,693 (GRCm39)	V391I	probably benign	Het
Gtf2h5	C	CA	17: 6,134,833 (GRCm39)		probably null	Het
Heatr1	T	A	13: 12,428,175 (GRCm39)	Y771N	probably damaging	Het
Il17ra	A	G	6: 120,458,417 (GRCm39)	T523A	probably benign	Het
Kcnv1	G	A	15: 44,977,865 (GRCm39)	Q58*	probably null	Het
Kdm5d	T	C	Y: 941,594 (GRCm39)	V1265A	probably damaging	Het
Kifc3	A	T	8: 95,829,024 (GRCm39)	L726Q	probably damaging	Het
Klk1b21	T	A	7: 43,755,912 (GRCm39)	I247N	probably benign	Het
Kntc1	T	A	5: 123,897,115 (GRCm39)	N159K	probably benign	Het
Krtap4-7	G	T	11: 99,534,667 (GRCm39)	C65*	probably null	Het
Lama2	C	T	10: 26,877,147 (GRCm39)	V2680M	possibly damaging	Het
Lipe	T	A	7: 25,088,007 (GRCm39)	M61L	probably benign	Het
Med17	A	G	9: 15,188,896 (GRCm39)	M123T	possibly damaging	Het
Mrpl37	T	C	4: 106,921,611 (GRCm39)	N206S	probably benign	Het
Muc4	A	T	16: 32,602,356 (GRCm39)	N1390Y		Het
Muc5ac	C	T	7: 141,354,008 (GRCm39)	A869V	possibly damaging	Het
Nckap5l	A	G	15: 99,327,290 (GRCm39)	V133A	probably benign	Het
Nin	A	T	12: 70,077,787 (GRCm39)		probably benign	Het
Nr1h2	C	T	7: 44,200,768 (GRCm39)	A287T	probably damaging	Het
Or8c16	A	T	9: 38,130,865 (GRCm39)	I246L	possibly damaging	Het
Patl1	A	G	19: 11,899,898 (GRCm39)	E230G	probably damaging	Het
Pbxip1	T	C	3: 89,355,235 (GRCm39)	S585P	probably damaging	Het
Pde3b	T	A	7: 114,015,278 (GRCm39)	W165R	possibly damaging	Het
Pdia4	A	C	6: 47,773,464 (GRCm39)	D628E	probably benign	Het
Pigo	T	A	4: 43,024,724 (GRCm39)	H125L	probably benign	Het
Platr25	A	T	13: 62,847,924 (GRCm39)	*313K	probably null	Het
Plxdc1	A	T	11: 97,846,337 (GRCm39)	M169K	possibly damaging	Het
Pxk	T	C	14: 8,151,496 (GRCm38)	I437T	probably damaging	Het
Rlf	T	C	4: 121,004,010 (GRCm39)	T1767A	possibly damaging	Het
Rnf123	T	A	9: 107,948,363 (GRCm39)	D110V	probably damaging	Het
Rnf185	A	T	11: 3,368,052 (GRCm39)	F209I	probably benign	Het
Rpl4	A	T	9: 64,082,242 (GRCm39)	N47I	probably damaging	Het
Rsl1d1	A	T	16: 11,017,512 (GRCm39)	F151L	probably damaging	Het
Sema3d	T	C	5: 12,603,191 (GRCm39)		probably null	Het
Serhl	A	G	15: 82,986,126 (GRCm39)	N80D	probably benign	Het
Sh3tc1	C	A	5: 35,863,802 (GRCm39)	R795L	probably benign	Het
Slc2a12	A	T	10: 22,521,116 (GRCm39)	T7S	probably benign	Het
Snrnp200	A	G	2: 127,068,005 (GRCm39)	Y834C	probably damaging	Het
Ss18	G	C	18: 14,774,016 (GRCm39)	Q258E	probably damaging	Het
Telo2	G	A	17: 25,321,041 (GRCm39)	L725F	probably damaging	Het
Tnxb	A	G	17: 34,934,882 (GRCm39)	E2497G	probably damaging	Het
Tox2	A	G	2: 163,163,360 (GRCm39)	D111G		Het
Trim16	G	A	11: 62,731,763 (GRCm39)	E545K	probably benign	Het
Trpm7	A	G	2: 126,664,623 (GRCm39)	W919R	probably damaging	Het
Ttbk1	G	T	17: 46,756,127 (GRCm39)	S1301*	probably null	Het
Txk	T	C	5: 72,889,122 (GRCm39)	N144S	probably damaging	Het
Ubqln4	T	A	3: 88,473,090 (GRCm39)	V515E	probably benign	Het
Ush2a	C	T	1: 188,581,162 (GRCm39)	R3681*	probably null	Het
Ythdf3	A	T	3: 16,258,138 (GRCm39)	N106I	probably damaging	Het
Zfp367	A	T	13: 64,292,069 (GRCm39)	C187*	probably null	Het
Zfp735	A	G	11: 73,603,000 (GRCm39)	D648G	possibly damaging	Het
Zic1	T	C	9: 91,244,701 (GRCm39)		probably benign	Het
Zik1	A	G	7: 10,223,826 (GRCm39)	S424P	probably damaging	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
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
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'- GAGGCACTAACAGGGTTTATGG -3'
(R):5'- AACCGGTTTAAAGACTCCCGG -3'

Sequencing Primer
(F):5'- CACTAACAGGGTTTATGGAAGAGC -3'
(R):5'- TTTAAAGACTCCCGGGGCAG -3'

Posted On

2021-03-08