Mutagenetix > Incidental Mutation

Incidental Mutation 'R8014:Cttnbp2'

617064

Institutional Source

Beutler Lab

Gene Symbol

Cttnbp2

Ensembl Gene

ENSMUSG00000000416

Gene Name

cortactin binding protein 2

Synonyms

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

MMRRC Submission

067454-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8014 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18366477-18514842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 18426092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glycine at position 762 (A762G)

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: A762G

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000088089
Gene: ENSMUSG00000000416
AA Change: A762G

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: A252G

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

Meta Mutation Damage Score

0.1459

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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
6030458C11Rik	C	A	15: 12,824,615 (GRCm39)	D7Y	probably benign	Het
Aff1	A	G	5: 103,981,735 (GRCm39)	T625A	possibly damaging	Het
Aldh8a1	T	C	10: 21,265,201 (GRCm39)	V276A	probably benign	Het
Alkbh3	T	C	2: 93,831,858 (GRCm39)	D124G	probably benign	Het
Apob	T	A	12: 8,060,798 (GRCm39)	N3093K	possibly damaging	Het
Atp13a1	C	T	8: 70,252,429 (GRCm39)	R608*	probably null	Het
Bbs7	A	T	3: 36,648,536 (GRCm39)	I404K	probably damaging	Het
Cacna2d1	A	T	5: 16,547,689 (GRCm39)	T647S	possibly damaging	Het
Carmil1	T	C	13: 24,220,304 (GRCm39)	E1140G	possibly damaging	Het
Ccdc158	C	A	5: 92,796,889 (GRCm39)	E482D	probably damaging	Het
Ccdc92	A	T	5: 124,913,090 (GRCm39)	H146Q	probably damaging	Het
Cntnap4	T	A	8: 113,480,577 (GRCm39)	N341K	probably damaging	Het
Cog1	A	G	11: 113,546,990 (GRCm39)	D528G	probably damaging	Het
D130043K22Rik	A	T	13: 25,040,685 (GRCm39)	I36F	probably damaging	Het
Dis3	T	A	14: 99,314,835 (GRCm39)	R954W	possibly damaging	Het
Eef1ece2	A	T	16: 20,461,067 (GRCm39)	T618S	probably benign	Het
Ext1	T	C	15: 52,939,283 (GRCm39)	I589V	possibly damaging	Het
Fam20a	T	A	11: 109,576,332 (GRCm39)	E142D	possibly damaging	Het
Fars2	C	T	13: 36,389,068 (GRCm39)	Q186*	probably null	Het
Fcgbpl1	G	A	7: 27,836,966 (GRCm39)	R295H	probably benign	Het
Fhdc1	A	T	3: 84,381,946 (GRCm39)	M1K	probably null	Het
Gars1	T	A	6: 55,050,392 (GRCm39)	F551Y	probably benign	Het
Gm28363	A	G	1: 117,654,534 (GRCm39)	R58G	probably benign	Het
Gm8356	A	T	14: 17,692,450 (GRCm39)	N58K	probably damaging	Het
Gm9758	A	G	5: 14,961,454 (GRCm39)	V175A	possibly damaging	Het
Gpr182	T	C	10: 127,586,874 (GRCm39)	T26A	possibly damaging	Het
Gpr19	A	G	6: 134,846,436 (GRCm39)	Y416H	probably damaging	Het
Hrob	A	G	11: 102,148,725 (GRCm39)	N379D	probably benign	Het
Itgb7	T	A	15: 102,131,087 (GRCm39)	S322C	probably damaging	Het
Kcnma1	T	A	14: 23,423,211 (GRCm39)	I831F	probably benign	Het
Lrba	A	T	3: 86,325,278 (GRCm39)	D1912V	probably damaging	Het
Macf1	T	A	4: 123,420,619 (GRCm39)	T212S	probably benign	Het
Map3k4	A	T	17: 12,489,918 (GRCm39)	C504*	probably null	Het
Morc2a	T	C	11: 3,627,419 (GRCm39)	S281P	probably damaging	Het
Muc16	T	C	9: 18,566,171 (GRCm39)	H2116R	unknown	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Omg	T	C	11: 79,393,729 (GRCm39)	D43G	possibly damaging	Het
Or13c7	T	A	4: 43,854,958 (GRCm39)	F216L	probably benign	Het
Or2ag15	C	T	7: 106,340,824 (GRCm39)	V106I	probably benign	Het
Or4c122	T	A	2: 89,079,343 (GRCm39)	I220F	probably damaging	Het
Or4c3	C	A	2: 89,852,087 (GRCm39)	V108F	possibly damaging	Het
Or5b3	A	T	19: 13,388,175 (GRCm39)	T81S	not run	Het
Or5w22	A	T	2: 87,362,508 (GRCm39)	M44L	probably benign	Het
Pdia6	T	C	12: 17,323,966 (GRCm39)	L66S	probably damaging	Het
Pds5a	A	G	5: 65,785,082 (GRCm39)	I930T	possibly damaging	Het
Piezo2	C	T	18: 63,216,271 (GRCm39)	G1169S	probably benign	Het
Pkhd1	A	G	1: 20,579,115 (GRCm39)		probably null	Het
Plekhg1	A	T	10: 3,907,758 (GRCm39)	R947W		Het
Ptprs	A	C	17: 56,742,994 (GRCm39)	S383A	probably damaging	Het
Rin3	T	A	12: 102,327,630 (GRCm39)	L193*	probably null	Het
Sgsh	A	G	11: 119,243,521 (GRCm39)	V67A	probably damaging	Het
Slc16a4	A	G	3: 107,218,794 (GRCm39)	Y465C	probably damaging	Het
Stab2	C	A	10: 86,686,767 (GRCm39)	S2259I	possibly damaging	Het
Tbc1d24	G	A	17: 24,401,795 (GRCm39)	P385S	possibly damaging	Het
Tm4sf1	T	C	3: 57,200,319 (GRCm39)	I99V	probably benign	Het
Tmem108	A	T	9: 103,376,606 (GRCm39)	I281N	probably benign	Het
Usp31	T	C	7: 121,248,480 (GRCm39)	S988G	probably damaging	Het
Usp44	G	T	10: 93,688,571 (GRCm39)		probably null	Het
Zbtb26	T	A	2: 37,327,013 (GRCm39)		probably null	Het
Zfp599	A	G	9: 22,160,777 (GRCm39)	Y463H	probably benign	Het
Zfp750	T	A	11: 121,403,843 (GRCm39)	D344V	possibly damaging	Het
Zmym5	T	A	14: 57,031,883 (GRCm39)	K408N	possibly 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
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'- CTAAGGTCCTTCTTTGCATTTGAAC -3'
(R):5'- CTCTCCATGTGAAAGTCTGTGG -3'

Sequencing Primer
(F):5'- TGAACACTCAAATATGTTTGGTGG -3'
(R):5'- CCATGTGAAAGTCTGTGGCATGC -3'

Posted On

2020-01-23