Mutagenetix > Incidental Mutation

Incidental Mutation 'R1112:Ctnnd2'

96887

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

039185-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1112 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30172739-31029487 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30922026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 884 (V884A)

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: V909A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080427
Gene: ENSMUSG00000022240
AA Change: V909A

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: V884A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak7	A	G	12: 105,679,831 (GRCm39)	N122D	probably benign	Het
Arb2a	A	G	13: 77,910,005 (GRCm39)	Y40C	probably damaging	Het
Atrn	A	G	2: 130,841,081 (GRCm39)	D1161G	probably benign	Het
Bscl2	G	C	19: 8,817,098 (GRCm39)	G9R	possibly damaging	Het
Clstn2	T	C	9: 97,340,281 (GRCm39)	N697S	possibly damaging	Het
Dusp10	A	T	1: 183,769,097 (GRCm39)	Q21L	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Foxn1	A	G	11: 78,261,856 (GRCm39)	F171S	probably benign	Het
Fxr2	A	G	11: 69,543,074 (GRCm39)	S624G	probably damaging	Het
Gorasp2	C	A	2: 70,521,158 (GRCm39)	P376Q	probably benign	Het
Gpr33	A	G	12: 52,070,155 (GRCm39)	S295P	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hap1	C	T	11: 100,245,143 (GRCm39)	V23M	probably damaging	Het
Hsd3b5	C	T	3: 98,537,393 (GRCm39)	R41Q	probably benign	Het
Kif1c	T	G	11: 70,615,641 (GRCm39)		probably null	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Madd	A	G	2: 90,973,944 (GRCm39)	C1447R	probably damaging	Het
Myef2	A	C	2: 124,939,506 (GRCm39)	M426R	probably damaging	Het
Myh13	A	T	11: 67,245,576 (GRCm39)	D1072V	probably damaging	Het
Or1e34	A	C	11: 73,779,060 (GRCm39)	L46R	probably damaging	Het
Or51a5	C	T	7: 102,771,611 (GRCm39)	D123N	probably damaging	Het
Orc4	A	T	2: 48,823,584 (GRCm39)	N90K	probably damaging	Het
Padi4	C	T	4: 140,485,427 (GRCm39)	S246N	probably benign	Het
Pcdhb22	A	T	18: 37,652,821 (GRCm39)	T430S	possibly damaging	Het
Prkd3	T	C	17: 79,273,837 (GRCm39)	D473G	probably damaging	Het
Scn4a	T	C	11: 106,211,292 (GRCm39)	Y1575C	probably damaging	Het
Serpinb6d	A	G	13: 33,853,118 (GRCm39)	Y170C	probably damaging	Het
Slc12a2	A	T	18: 58,070,824 (GRCm39)	I1059L	probably benign	Het
Slc36a4	T	A	9: 15,634,811 (GRCm39)	F118I	possibly damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Srpra	A	G	9: 35,126,255 (GRCm39)	T483A	probably benign	Het
Sycp2	A	T	2: 177,994,329 (GRCm39)	D1198E	probably benign	Het
Ubash3b	T	C	9: 40,939,412 (GRCm39)	N287D	probably damaging	Het
Uggt1	T	C	1: 36,212,627 (GRCm39)	D905G	possibly damaging	Het
Zfp692	T	C	11: 58,202,388 (GRCm39)	L381P	probably damaging	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
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
R4279:Ctnnd2	UTSW	15	30,905,966 (GRCm39)	missense	probably damaging	1.00
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'- TCATGGCAGTTCAACCGTTTTGGC -3'
(R):5'- AACCAGACTGTTGGTGACTGGAGG -3'

Sequencing Primer
(F):5'- GTTTTGGCTCCTGCAAACAG -3'
(R):5'- GGTAATACGCTCCATAAAGAAATCCG -3'

Posted On

2014-01-05