Mutagenetix > Incidental Mutation

Incidental Mutation 'R3766:Cttnbp2nl'

274697

Institutional Source

Beutler Lab

Gene Symbol

Cttnbp2nl

Ensembl Gene

ENSMUSG00000062127

Gene Name

CTTNBP2 N-terminal like

Synonyms

MMRRC Submission

040743-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

R3766 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104909231-104960462 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 104912117 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 589 (T589I)

Ref Sequence

ENSEMBL: ENSMUSP00000096359 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077548] [ENSMUST00000098763] [ENSMUST00000197437]

AlphaFold

Q99LJ0

Predicted Effect

probably benign
Transcript: ENSMUST00000077548
AA Change: T589I

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000076751
Gene: ENSMUSG00000062127
AA Change: T589I

Domain	Start	End	E-Value	Type
Pfam:CortBP2	1	189	1.9e-60	PFAM
low complexity region	263	278	N/A	INTRINSIC
low complexity region	401	434	N/A	INTRINSIC
low complexity region	467	477	N/A	INTRINSIC
low complexity region	578	586	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098763
AA Change: T589I

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000096359
Gene: ENSMUSG00000062127
AA Change: T589I

Domain	Start	End	E-Value	Type
Pfam:CortBP2	2	188	8.5e-71	PFAM
low complexity region	263	278	N/A	INTRINSIC
low complexity region	401	434	N/A	INTRINSIC
low complexity region	467	477	N/A	INTRINSIC
low complexity region	578	586	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197437

SMART Domains

Protein: ENSMUSP00000143282
Gene: ENSMUSG00000062127

Domain	Start	End	E-Value	Type
Pfam:CortBP2	1	167	7.7e-53	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198827

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199002

Meta Mutation Damage Score

0.1028

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	C	T	5: 125,583,326 (GRCm39)	T294M	probably damaging	Het
Brf2	G	T	8: 27,614,496 (GRCm39)	T230N	possibly damaging	Het
Ccne2	A	G	4: 11,199,293 (GRCm39)		probably benign	Het
Crbn	T	C	6: 106,771,987 (GRCm39)	K106E	possibly damaging	Het
Dock10	A	G	1: 80,514,643 (GRCm39)	S1091P	probably damaging	Het
Fh1	A	G	1: 175,442,316 (GRCm39)	V178A	probably damaging	Het
Fndc1	A	G	17: 8,003,253 (GRCm39)	S111P	probably damaging	Het
Frk	A	G	10: 34,360,001 (GRCm39)	M1V	probably null	Het
Gm29394	C	T	15: 57,912,024 (GRCm39)		probably benign	Het
Herc2	A	G	7: 55,813,572 (GRCm39)	D2601G	probably damaging	Het
Hspa13	T	C	16: 75,561,974 (GRCm39)	D75G	probably benign	Het
Itgav	T	C	2: 83,632,229 (GRCm39)		probably null	Het
Kif6	A	T	17: 50,065,671 (GRCm39)		probably benign	Het
Lypla1	G	A	1: 4,911,201 (GRCm39)	R104Q	probably benign	Het
Map1b	T	C	13: 99,570,595 (GRCm39)	K709E	unknown	Het
Or52l1	A	T	7: 104,830,088 (GRCm39)	I159K	probably damaging	Het
Or56b1b	G	A	7: 108,164,402 (GRCm39)	P200L	probably benign	Het
Pcdhb16	A	T	18: 37,611,249 (GRCm39)	K70*	probably null	Het
Pex5l	T	G	3: 33,061,327 (GRCm39)	D174A	probably benign	Het
Plac8l1	A	T	18: 42,313,460 (GRCm39)	M94K	probably benign	Het
Plxna1	T	C	6: 89,311,757 (GRCm39)		probably benign	Het
Psg26	T	C	7: 18,208,996 (GRCm39)	T471A	probably benign	Het
Pus3	C	A	9: 35,477,968 (GRCm39)	T400K	probably benign	Het
Pxk	T	C	14: 8,136,863 (GRCm38)		probably benign	Het
Rapgef2	T	C	3: 78,996,057 (GRCm39)	T569A	probably benign	Het
Sall4	T	C	2: 168,597,964 (GRCm39)	Q292R	possibly damaging	Het
Slc18b1	A	G	10: 23,674,647 (GRCm39)	D34G	probably damaging	Het
Slc45a1	T	C	4: 150,722,517 (GRCm39)	R456G	probably damaging	Het
Sox13	T	C	1: 133,318,536 (GRCm39)	R81G	possibly damaging	Het
Spag9	A	G	11: 93,951,109 (GRCm39)		probably benign	Het
Ston1	C	T	17: 88,942,788 (GRCm39)	P65S	probably damaging	Het
Tada2b	A	T	5: 36,633,761 (GRCm39)	D197E	probably benign	Het
Tcim	T	A	8: 24,928,765 (GRCm39)	R50W	probably damaging	Het
Tnpo3	T	C	6: 29,579,688 (GRCm39)	D235G	probably benign	Het
Trim59	A	G	3: 68,944,137 (GRCm39)	V401A	probably benign	Het
Trpm3	A	C	19: 22,425,741 (GRCm39)	Q32P	probably benign	Het
Tubgcp5	T	A	7: 55,480,614 (GRCm39)	M1018K	probably damaging	Het
Ube2o	A	G	11: 116,437,689 (GRCm39)		probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Uvrag	G	T	7: 98,537,350 (GRCm39)	S615*	probably null	Het
Vmn2r6	T	A	3: 64,463,929 (GRCm39)	I302L	probably benign	Het
Vmn2r73	C	T	7: 85,521,198 (GRCm39)	V257I	probably benign	Het

Other mutations in Cttnbp2nl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01365:Cttnbp2nl	APN	3	104,912,346 (GRCm39)	missense	probably damaging	1.00
IGL01832:Cttnbp2nl	APN	3	104,918,544 (GRCm39)	missense	probably damaging	1.00
IGL02070:Cttnbp2nl	APN	3	104,918,582 (GRCm39)	missense	probably damaging	1.00
R0131:Cttnbp2nl	UTSW	3	104,913,173 (GRCm39)	missense	probably damaging	1.00
R0131:Cttnbp2nl	UTSW	3	104,913,173 (GRCm39)	missense	probably damaging	1.00
R0132:Cttnbp2nl	UTSW	3	104,913,173 (GRCm39)	missense	probably damaging	1.00
R1919:Cttnbp2nl	UTSW	3	104,918,594 (GRCm39)	missense	possibly damaging	0.51
R3964:Cttnbp2nl	UTSW	3	104,913,321 (GRCm39)	missense	probably damaging	1.00
R4509:Cttnbp2nl	UTSW	3	104,940,063 (GRCm39)	missense	probably damaging	1.00
R4597:Cttnbp2nl	UTSW	3	104,913,191 (GRCm39)	missense	possibly damaging	0.76
R4820:Cttnbp2nl	UTSW	3	104,918,640 (GRCm39)	missense	probably benign	0.00
R5233:Cttnbp2nl	UTSW	3	104,912,357 (GRCm39)	missense	probably damaging	1.00
R6230:Cttnbp2nl	UTSW	3	104,918,655 (GRCm39)	missense	probably damaging	0.99
R6385:Cttnbp2nl	UTSW	3	104,912,952 (GRCm39)	missense	probably benign	0.41
R6551:Cttnbp2nl	UTSW	3	104,912,433 (GRCm39)	missense	possibly damaging	0.92
R6685:Cttnbp2nl	UTSW	3	104,912,814 (GRCm39)	missense	probably benign	0.06
R6883:Cttnbp2nl	UTSW	3	104,918,507 (GRCm39)	critical splice donor site	probably null
R7262:Cttnbp2nl	UTSW	3	104,940,062 (GRCm39)	missense	probably damaging	1.00
R7509:Cttnbp2nl	UTSW	3	104,940,046 (GRCm39)	missense	possibly damaging	0.94
R7619:Cttnbp2nl	UTSW	3	104,912,076 (GRCm39)	missense	possibly damaging	0.73
R7978:Cttnbp2nl	UTSW	3	104,915,307 (GRCm39)	missense	probably damaging	0.99
R8115:Cttnbp2nl	UTSW	3	104,913,402 (GRCm39)	missense	probably damaging	1.00
X0060:Cttnbp2nl	UTSW	3	104,912,534 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGACTCCAGGGTTTAACGC -3'
(R):5'- GACTACCGAAATCTGGCCAG -3'

Sequencing Primer
(F):5'- ATGTCAAATGTGGAGACTCAGCCC -3'
(R):5'- GAAATCTGGCCAGCACTGC -3'

Posted On

2015-04-02