Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02070:Cttnbp2nl'

185768

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cttnbp2nl

Ensembl Gene

ENSMUSG00000062127

Gene Name

CTTNBP2 N-terminal like

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

IGL02070

Quality Score

Status

Chromosome

Chromosomal Location

104909231-104960462 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 104918582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 86 (V86G)

Ref Sequence

ENSEMBL: ENSMUSP00000143282 (fasta)

Gene Model

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

AlphaFold

Q99LJ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000077548
AA Change: V86G

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

SMART Domains

Protein: ENSMUSP00000076751
Gene: ENSMUSG00000062127
AA Change: V86G

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 damaging
Transcript: ENSMUST00000098763
AA Change: V86G

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

SMART Domains

Protein: ENSMUSP00000096359
Gene: ENSMUSG00000062127
AA Change: V86G

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 damaging
Transcript: ENSMUST00000197437
AA Change: V86G

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

SMART Domains

Protein: ENSMUSP00000143282
Gene: ENSMUSG00000062127
AA Change: V86G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199002

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	A	G	10: 14,343,336 (GRCm39)	Y204H	probably damaging	Het
Akap13	C	A	7: 75,316,293 (GRCm39)	T583K	probably benign	Het
Alms1	C	A	6: 85,628,385 (GRCm39)	Q2948K	possibly damaging	Het
Auts2	C	T	5: 131,499,259 (GRCm39)	R327Q	probably damaging	Het
Card14	A	C	11: 119,235,530 (GRCm39)	E988A	probably damaging	Het
Ccl25	T	C	8: 4,398,700 (GRCm39)		probably benign	Het
Cyb5r2	G	A	7: 107,350,394 (GRCm39)	T213I	probably damaging	Het
Ear6	A	G	14: 52,091,903 (GRCm39)	H150R	probably damaging	Het
Ecm2	T	C	13: 49,671,846 (GRCm39)	C116R	probably damaging	Het
Gabrr2	G	T	4: 33,095,340 (GRCm39)	E385*	probably null	Het
Hyal5	T	A	6: 24,876,961 (GRCm39)	V278D	probably damaging	Het
Mboat1	T	C	13: 30,408,380 (GRCm39)	L181P	probably benign	Het
Mdm1	A	G	10: 117,982,523 (GRCm39)	I53V	probably damaging	Het
Mfrp	T	C	9: 44,015,986 (GRCm39)	Y368H	probably benign	Het
Myo1b	A	G	1: 51,833,496 (GRCm39)	V365A	probably damaging	Het
Nexmif	G	T	X: 103,126,817 (GRCm39)	H1509Q	probably benign	Het
Nlrp4a	G	T	7: 26,148,703 (GRCm39)	K103N	possibly damaging	Het
Obox6	G	A	7: 15,568,804 (GRCm39)	S24L	probably damaging	Het
Optc	T	A	1: 133,828,914 (GRCm39)	I178F	probably damaging	Het
Or4p22	T	A	2: 88,317,346 (GRCm39)	I90N	probably damaging	Het
Or56a42-ps1	G	T	7: 104,776,254 (GRCm39)	L85I	probably benign	Het
Pcdh15	T	A	10: 74,466,700 (GRCm39)	N1535K	probably benign	Het
Pcdhb19	A	T	18: 37,631,597 (GRCm39)	N464I	probably damaging	Het
Pcsk5	C	T	19: 17,416,406 (GRCm39)	V1681I	probably benign	Het
Phf8-ps	T	C	17: 33,285,104 (GRCm39)	E566G	probably damaging	Het
Pknox1	T	A	17: 31,822,339 (GRCm39)		probably benign	Het
Ppa2	T	C	3: 133,083,623 (GRCm39)	F327S	probably damaging	Het
Rab39b	G	T	X: 74,618,309 (GRCm39)	L174M	probably damaging	Het
Reep5	A	T	18: 34,505,526 (GRCm39)	Y48*	probably null	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Sar1a	T	A	10: 61,520,673 (GRCm39)		probably benign	Het
Satb1	T	A	17: 52,047,095 (GRCm39)	D740V	probably damaging	Het
Sema3f	G	A	9: 107,569,440 (GRCm39)	T128I	probably damaging	Het
Snx1	A	T	9: 66,005,731 (GRCm39)	S129R	probably damaging	Het
Sptb	T	A	12: 76,652,313 (GRCm39)	K1641N	possibly damaging	Het
Sptbn1	T	C	11: 30,095,979 (GRCm39)	E305G	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Taar7d	A	T	10: 23,904,152 (GRCm39)	I345F	probably benign	Het
Tes	T	C	6: 17,099,779 (GRCm39)	L258P	probably damaging	Het
Trav9-4	A	T	14: 53,913,817 (GRCm39)	T24S	possibly damaging	Het
Utp20	A	G	10: 88,657,739 (GRCm39)		probably benign	Het
Vcam1	T	A	3: 115,919,646 (GRCm39)	T207S	probably benign	Het
Xkrx	T	C	X: 133,051,311 (GRCm39)	S447G	probably benign	Het
Zfp318	T	C	17: 46,707,644 (GRCm39)	L234P	probably damaging	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
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
R3766:Cttnbp2nl	UTSW	3	104,912,117 (GRCm39)	missense	probably benign	0.27
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

Posted On

2014-05-07