Mutagenetix > Incidental Mutation

Incidental Mutation 'R4279:Ctnnd2'

322819

Institutional Source

Beutler Lab

Gene Symbol

Ctnnd2

Ensembl Gene

ENSMUSG00000022240

Gene Name

catenin delta 2

Synonyms

Nprap, Catnd2, neurojugin, catenin (cadherin associated protein), delta 2

MMRRC Submission

041079-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4279 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30172739-31029487 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 30905966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 871 (A871E)

Ref Sequence

ENSEMBL: ENSMUSP00000154410 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081728] [ENSMUST00000226119]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000081728
AA Change: A871E

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

SMART Domains

Protein: ENSMUSP00000080427
Gene: ENSMUSG00000022240
AA Change: A871E

Domain	Start	End	E-Value	Type
coiled coil region	50	84	N/A	INTRINSIC
low complexity region	87	97	N/A	INTRINSIC
low complexity region	148	159	N/A	INTRINSIC
low complexity region	216	230	N/A	INTRINSIC
low complexity region	238	257	N/A	INTRINSIC
ARM	577	617	1.85e-8	SMART
ARM	621	662	1.15e-9	SMART
ARM	663	720	1.51e1	SMART
ARM	722	769	2.74e1	SMART
ARM	830	871	4.88e0	SMART
ARM	902	942	2.76e-7	SMART
low complexity region	964	973	N/A	INTRINSIC
ARM	995	1039	5.64e-4	SMART
low complexity region	1086	1099	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000226119
AA Change: A871E

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

Meta Mutation Damage Score

0.8957

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

98% (40/41)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gene promotes the disruption of E-cadherin based adherens junction to favor cell spreading upon stimulation by hepatocyte growth factor. This gene is overexpressed in prostate adenocarcinomas and is associated with decreased expression of tumor suppressor E-cadherin in this tissue. This gene resides in a region of the short arm of chromosome 5 that is deleted in Cri du Chat syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for a reporter allele exhibit abnormal conditioning, spatial learning and coordination behaviors and abnormal long term potentiation. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid2	T	A	15: 96,269,637 (GRCm39)	L1250Q	probably damaging	Het
Ccdc73	A	T	2: 104,815,355 (GRCm39)	N364Y	possibly damaging	Het
Ccl25	T	A	8: 4,399,829 (GRCm39)	L56Q	probably damaging	Het
Cyp2b23	C	T	7: 26,365,452 (GRCm39)	S461N	possibly damaging	Het
Dgat2	C	A	7: 98,813,912 (GRCm39)	G120V	probably damaging	Het
Dsp	A	T	13: 38,369,207 (GRCm39)	I768F	probably damaging	Het
Dzank1	T	C	2: 144,333,765 (GRCm39)	E356G	probably benign	Het
Fam120a	A	T	13: 49,042,734 (GRCm39)	V889D	probably benign	Het
Fxyd5	C	A	7: 30,734,811 (GRCm39)	D139Y	probably null	Het
Gcnt2	T	C	13: 41,041,666 (GRCm39)	V275A	probably benign	Het
Gimap4	A	G	6: 48,667,511 (GRCm39)	I89V	probably benign	Het
Gm6578	G	A	6: 12,100,187 (GRCm39)		noncoding transcript	Het
Jmjd8	A	G	17: 26,048,787 (GRCm39)		probably benign	Het
Jmy	G	C	13: 93,635,390 (GRCm39)	P142R	probably damaging	Het
Jmy	C	A	13: 93,635,781 (GRCm39)	D12Y	probably damaging	Het
Kif13b	G	T	14: 65,016,805 (GRCm39)	A1324S	probably damaging	Het
Klhl31	T	C	9: 77,563,121 (GRCm39)	S629P	unknown	Het
Lpar1	A	G	4: 58,487,115 (GRCm39)	V52A	possibly damaging	Het
Lrp5	A	G	19: 3,641,778 (GRCm39)	S1395P	possibly damaging	Het
Mogs	T	C	6: 83,093,048 (GRCm39)	L132P	probably damaging	Het
Ncam1	C	A	9: 49,418,259 (GRCm39)		probably benign	Het
Ndufs8	A	T	19: 3,961,014 (GRCm39)	F88I	probably damaging	Het
Nos2	T	A	11: 78,820,602 (GRCm39)	L69Q	probably benign	Het
Or51a6	T	A	7: 102,604,292 (GRCm39)	Q179L	probably benign	Het
Pls3	A	T	X: 74,846,138 (GRCm39)	I192N	probably benign	Het
Psmd6	T	C	14: 14,112,297 (GRCm38)	N388S	possibly damaging	Het
Rrbp1	T	C	2: 143,805,028 (GRCm39)	T1046A	probably benign	Het
Scn11a	T	C	9: 119,583,428 (GRCm39)	E1729G	probably benign	Het
Slc6a3	A	G	13: 73,692,953 (GRCm39)	D191G	possibly damaging	Het
Slc9a1	T	C	4: 133,139,400 (GRCm39)	F206S	probably benign	Het
Tmc5	A	G	7: 118,273,886 (GRCm39)	*968W	probably null	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Unc13a	T	C	8: 72,119,311 (GRCm39)	K9R	probably damaging	Het
Vegfa	A	G	17: 46,342,392 (GRCm39)	V142A	probably benign	Het
Vmn1r119	T	A	7: 20,745,786 (GRCm39)	M199L	probably benign	Het
Vnn1	A	T	10: 23,774,410 (GRCm39)	D151V	possibly damaging	Het
Zfp365	A	T	10: 67,733,431 (GRCm39)	F254I	probably benign	Het

Other mutations in Ctnnd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00597:Ctnnd2	APN	15	30,647,287 (GRCm39)	missense	possibly damaging	0.73
IGL01612:Ctnnd2	APN	15	31,005,164 (GRCm39)	missense	probably damaging	1.00
IGL01923:Ctnnd2	APN	15	30,480,974 (GRCm39)	missense	probably damaging	0.99
IGL02183:Ctnnd2	APN	15	31,020,886 (GRCm39)	missense	probably damaging	1.00
IGL02186:Ctnnd2	APN	15	30,480,939 (GRCm39)	missense	probably damaging	0.99
IGL02226:Ctnnd2	APN	15	30,847,482 (GRCm39)	missense	probably benign	0.01
IGL02307:Ctnnd2	APN	15	30,647,357 (GRCm39)	missense	possibly damaging	0.86
IGL02407:Ctnnd2	APN	15	30,966,914 (GRCm39)	missense	probably damaging	1.00
IGL02474:Ctnnd2	APN	15	30,669,708 (GRCm39)	missense	possibly damaging	0.71
IGL02718:Ctnnd2	APN	15	31,027,762 (GRCm39)	missense	probably damaging	1.00
IGL03249:Ctnnd2	APN	15	30,683,382 (GRCm39)	missense	probably benign	0.45
IGL03328:Ctnnd2	APN	15	30,921,993 (GRCm39)	splice site	probably benign
carpe	UTSW	15	30,905,966 (GRCm39)	missense	probably damaging	1.00
diem	UTSW	15	30,683,493 (GRCm39)	missense	possibly damaging	0.85
P0016:Ctnnd2	UTSW	15	30,967,084 (GRCm39)	missense	probably benign	0.00
R0130:Ctnnd2	UTSW	15	30,922,059 (GRCm39)	missense	probably damaging	1.00
R0408:Ctnnd2	UTSW	15	30,634,823 (GRCm39)	missense	probably damaging	1.00
R0611:Ctnnd2	UTSW	15	31,009,230 (GRCm39)	missense	possibly damaging	0.75
R0894:Ctnnd2	UTSW	15	30,332,301 (GRCm39)	splice site	probably benign
R1112:Ctnnd2	UTSW	15	30,922,026 (GRCm39)	missense	probably damaging	1.00
R1459:Ctnnd2	UTSW	15	30,847,445 (GRCm39)	missense	probably damaging	1.00
R1529:Ctnnd2	UTSW	15	30,887,267 (GRCm39)	missense	possibly damaging	0.91
R1532:Ctnnd2	UTSW	15	30,922,014 (GRCm39)	missense	probably damaging	1.00
R1701:Ctnnd2	UTSW	15	30,922,127 (GRCm39)	missense	probably damaging	1.00
R1807:Ctnnd2	UTSW	15	30,620,017 (GRCm39)	missense	probably damaging	1.00
R1881:Ctnnd2	UTSW	15	31,005,227 (GRCm39)	splice site	probably benign
R1960:Ctnnd2	UTSW	15	30,647,257 (GRCm39)	missense	probably damaging	0.96
R2121:Ctnnd2	UTSW	15	30,669,660 (GRCm39)	missense	probably damaging	1.00
R3839:Ctnnd2	UTSW	15	31,009,174 (GRCm39)	splice site	probably null
R3967:Ctnnd2	UTSW	15	30,647,075 (GRCm39)	missense	possibly damaging	0.81
R3980:Ctnnd2	UTSW	15	30,669,589 (GRCm39)	missense	probably benign	0.14
R4207:Ctnnd2	UTSW	15	30,972,973 (GRCm39)	missense	probably damaging	0.99
R4498:Ctnnd2	UTSW	15	30,620,020 (GRCm39)	missense	probably damaging	1.00
R4622:Ctnnd2	UTSW	15	31,009,259 (GRCm39)	missense	probably benign	0.00
R4622:Ctnnd2	UTSW	15	30,887,315 (GRCm39)	missense	probably benign	0.17
R4860:Ctnnd2	UTSW	15	30,881,313 (GRCm39)	missense	probably damaging	1.00
R4860:Ctnnd2	UTSW	15	30,881,313 (GRCm39)	missense	probably damaging	1.00
R4979:Ctnnd2	UTSW	15	31,009,221 (GRCm39)	missense	probably damaging	1.00
R5086:Ctnnd2	UTSW	15	30,683,493 (GRCm39)	missense	possibly damaging	0.85
R5330:Ctnnd2	UTSW	15	30,332,261 (GRCm39)	missense	probably damaging	1.00
R5459:Ctnnd2	UTSW	15	30,887,334 (GRCm39)	missense	probably damaging	1.00
R5595:Ctnnd2	UTSW	15	30,669,689 (GRCm39)	missense	probably benign	0.07
R5809:Ctnnd2	UTSW	15	30,847,523 (GRCm39)	missense	probably damaging	1.00
R5987:Ctnnd2	UTSW	15	30,683,387 (GRCm39)	missense	probably benign
R6245:Ctnnd2	UTSW	15	30,905,894 (GRCm39)	missense	probably damaging	1.00
R6379:Ctnnd2	UTSW	15	30,634,844 (GRCm39)	missense	probably damaging	1.00
R6737:Ctnnd2	UTSW	15	30,966,980 (GRCm39)	nonsense	probably null
R6979:Ctnnd2	UTSW	15	30,619,376 (GRCm39)	missense	probably damaging	0.99
R7133:Ctnnd2	UTSW	15	30,480,995 (GRCm39)	missense	possibly damaging	0.47
R7179:Ctnnd2	UTSW	15	30,683,510 (GRCm39)	missense	possibly damaging	0.95
R7267:Ctnnd2	UTSW	15	30,683,501 (GRCm39)	missense	probably benign	0.13
R7275:Ctnnd2	UTSW	15	30,905,855 (GRCm39)	missense	possibly damaging	0.94
R7386:Ctnnd2	UTSW	15	30,966,914 (GRCm39)	missense	probably damaging	1.00
R7649:Ctnnd2	UTSW	15	31,027,630 (GRCm39)	missense	probably benign	0.11
R7814:Ctnnd2	UTSW	15	31,020,874 (GRCm39)	missense	probably benign	0.00
R7849:Ctnnd2	UTSW	15	31,027,733 (GRCm39)	missense	probably damaging	1.00
R7857:Ctnnd2	UTSW	15	30,620,076 (GRCm39)	missense	probably benign	0.01
R8057:Ctnnd2	UTSW	15	30,847,497 (GRCm39)	missense	possibly damaging	0.89
R8236:Ctnnd2	UTSW	15	30,647,164 (GRCm39)	missense	probably benign
R8260:Ctnnd2	UTSW	15	30,634,879 (GRCm39)	missense	possibly damaging	0.84
R8411:Ctnnd2	UTSW	15	30,647,179 (GRCm39)	missense	probably benign	0.33
R8802:Ctnnd2	UTSW	15	30,967,022 (GRCm39)	missense	probably damaging	1.00
R8891:Ctnnd2	UTSW	15	30,620,076 (GRCm39)	missense	probably benign	0.01
R8907:Ctnnd2	UTSW	15	30,905,873 (GRCm39)	missense	probably damaging	1.00
R8989:Ctnnd2	UTSW	15	30,669,660 (GRCm39)	missense	probably damaging	1.00
R9017:Ctnnd2	UTSW	15	30,881,316 (GRCm39)	missense	probably damaging	0.96
R9035:Ctnnd2	UTSW	15	30,332,162 (GRCm39)	missense	possibly damaging	0.77
R9061:Ctnnd2	UTSW	15	30,806,884 (GRCm39)	missense	probably damaging	1.00
R9303:Ctnnd2	UTSW	15	30,967,037 (GRCm39)	missense	probably damaging	0.99
R9475:Ctnnd2	UTSW	15	30,881,276 (GRCm39)	missense	probably damaging	1.00
Z1088:Ctnnd2	UTSW	15	30,966,959 (GRCm39)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- TTTTCTCTCACCAGTGGGATGG -3'
(R):5'- TGTTCACAACAGTCTTCAAGGAC -3'

Sequencing Primer
(F):5'- CTCTCACCAGTGGGATGGAGTAG -3'
(R):5'- ACAGTCTTCAAGGACACTGG -3'

Posted On

2015-06-20