Mutagenetix > Incidental Mutation

Incidental Mutation 'R4860:Ctnnd2'

372453

Institutional Source

Beutler Lab

Gene Symbol

Ctnnd2

Ensembl Gene

ENSMUSG00000022240

Gene Name

catenin (cadherin associated protein), delta 2

Synonyms

Catnd2, neurojugin, Nprap

MMRRC Submission

042471-MU

Accession Numbers

NCBI RefSeq: NM_008729.2; MGI:1195966

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4860 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30172593-31029341 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30881167 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 731 (E731G)

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: E731G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080427
Gene: ENSMUSG00000022240
AA Change: E731G

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: E731G

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

Meta Mutation Damage Score

0.1227

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 87.3%

Validation Efficiency

MGI Phenotype

Strain: 3056606
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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 72,455,423 (GRCm38)	S466P	possibly damaging	Het
1700061G19Rik	A	G	17: 56,888,655 (GRCm38)	N684S	probably benign	Het
4930435E12Rik	A	G	16: 38,828,145 (GRCm38)	S201P	probably damaging	Het
Ablim1	T	C	19: 57,079,866 (GRCm38)	T267A	probably damaging	Het
Acap2	A	T	16: 31,103,499 (GRCm38)	L724Q	possibly damaging	Het
Adcy4	T	C	14: 55,781,927 (GRCm38)	T89A	possibly damaging	Het
Agrp	T	C	8: 105,567,368 (GRCm38)	E41G	probably benign	Het
Akr1d1	G	A	6: 37,564,491 (GRCm38)	V308M	probably damaging	Het
Ap1m2	C	T	9: 21,309,674 (GRCm38)	R54Q	probably benign	Het
Arhgap45	T	A	10: 80,027,066 (GRCm38)	V692E	probably damaging	Het
Arid5b	G	T	10: 68,243,095 (GRCm38)	N137K	probably damaging	Het
Arsi	G	A	18: 60,916,651 (GRCm38)	G202E	probably benign	Het
BC048679	T	C	7: 81,495,720 (GRCm38)	N27D	probably benign	Het
Ccdc78	A	G	17: 25,788,700 (GRCm38)	N237S	probably benign	Het
Cd46	G	A	1: 195,062,396 (GRCm38)	L345F	possibly damaging	Het
Cngb3	A	T	4: 19,425,569 (GRCm38)	N459I	possibly damaging	Het
Ctsh	A	G	9: 90,054,548 (GRCm38)	E26G	probably benign	Het
Cul1	G	T	6: 47,517,146 (GRCm38)	K464N	probably benign	Het
Cul1	T	A	6: 47,517,191 (GRCm38)	S479R	probably damaging	Het
Dcaf5	A	T	12: 80,340,232 (GRCm38)	D373E	probably benign	Het
Ddx58	G	T	4: 40,210,000 (GRCm38)	S644R	probably damaging	Het
Dhcr7	A	G	7: 143,840,500 (GRCm38)	Q126R	probably benign	Het
Dok2	T	C	14: 70,777,516 (GRCm38)	F228L	probably damaging	Het
Dpep3	T	G	8: 105,976,189 (GRCm38)	I314L	probably benign	Het
Eps8	A	G	6: 137,514,295 (GRCm38)	F362L	probably damaging	Het
Espn	G	T	4: 152,138,846 (GRCm38)	R250S	probably damaging	Het
Faf1	A	C	4: 109,742,896 (GRCm38)	N163H	probably damaging	Het
Fam198b	C	A	3: 79,936,674 (GRCm38)	S36*	probably null	Het
Fam71e2	C	T	7: 4,757,469 (GRCm38)		probably null	Het
Fcho1	C	T	8: 71,710,481 (GRCm38)	V635I	probably benign	Het
Gm7579	G	A	7: 142,211,908 (GRCm38)	C17Y	unknown	Het
Gm996	T	C	2: 25,578,753 (GRCm38)	Y382C	probably damaging	Het
Gpx8	G	T	13: 113,045,508 (GRCm38)	Y130*	probably null	Het
Gvin1	A	T	7: 106,163,436 (GRCm38)	Y609N	possibly damaging	Het
Hectd4	T	A	5: 121,305,818 (GRCm38)	M30K	probably benign	Het
Iqub	T	C	6: 24,450,842 (GRCm38)	D586G	probably damaging	Het
Klhl25	T	C	7: 75,867,050 (GRCm38)	I568T	probably benign	Het
Larp6	A	G	9: 60,737,810 (GRCm38)	E411G	probably damaging	Het
Lepr	A	C	4: 101,789,337 (GRCm38)	I822L	probably benign	Het
Lrig3	C	A	10: 126,011,052 (GRCm38)	D896E	probably benign	Het
Lrp1	C	T	10: 127,553,824 (GRCm38)	G3114D	probably damaging	Het
Macf1	A	T	4: 123,486,750 (GRCm38)	Y1263N	probably damaging	Het
Mapk10	T	C	5: 102,990,619 (GRCm38)	D180G	probably damaging	Het
Matr3	T	A	18: 35,581,640 (GRCm38)	V113E	probably damaging	Het
Mbd4	A	T	6: 115,848,926 (GRCm38)	F368Y	possibly damaging	Het
Mcpt8	G	A	14: 56,082,280 (GRCm38)	R238W	probably benign	Het
Mcrip2	G	T	17: 25,864,647 (GRCm38)	T86N	possibly damaging	Het
Mink1	A	G	11: 70,611,592 (GRCm38)	N1043S	probably damaging	Het
Muc4	T	A	16: 32,754,625 (GRCm38)	S1500T	probably benign	Het
Muc4	G	A	16: 32,754,616 (GRCm38)	G1497R	probably benign	Het
Nbeal2	G	A	9: 110,635,194 (GRCm38)	T1128I	probably benign	Het
Nrg2	T	A	18: 36,196,547 (GRCm38)	Y205F	probably damaging	Het
Nubp2	A	G	17: 24,884,456 (GRCm38)	M149T	probably benign	Het
Olfr1062	T	C	2: 86,422,957 (GRCm38)	T240A	probably damaging	Het
Olfr462	T	A	11: 87,889,225 (GRCm38)	M224L	probably damaging	Het
Olfr974	G	T	9: 39,942,504 (GRCm38)	M81I	probably benign	Het
Pax3	A	G	1: 78,192,456 (GRCm38)	I191T	possibly damaging	Het
Pdcd5	T	C	7: 35,643,710 (GRCm38)	N137D	possibly damaging	Het
Pik3c2a	G	A	7: 116,340,156 (GRCm38)	A1649V	probably damaging	Het
Pkhd1l1	T	C	15: 44,537,378 (GRCm38)	S2183P	possibly damaging	Het
Plekho1	T	A	3: 95,988,993 (GRCm38)	Q388L	possibly damaging	Het
Ppfibp1	A	G	6: 146,990,514 (GRCm38)	T91A	probably benign	Het
Ptger4	G	T	15: 5,242,606 (GRCm38)	N177K	probably benign	Het
Reln	A	G	5: 21,901,751 (GRCm38)	F3207S	probably benign	Het
Ripk4	C	T	16: 97,751,536 (GRCm38)	R194H	probably damaging	Het
Rnf112	A	T	11: 61,452,744 (GRCm38)	C112S	possibly damaging	Het
Rprd1b	T	G	2: 158,074,935 (GRCm38)	Y278*	probably null	Het
Sel1l	A	G	12: 91,831,602 (GRCm38)	L140P	probably damaging	Het
Shroom3	G	T	5: 92,943,086 (GRCm38)	V1151F	probably damaging	Het
Slc38a3	A	G	9: 107,655,064 (GRCm38)	V423A	probably damaging	Het
Slitrk6	T	C	14: 110,751,883 (GRCm38)	T131A	probably damaging	Het
Slmap	A	T	14: 26,460,209 (GRCm38)	V323E	probably benign	Het
Smim6	T	C	11: 115,913,504 (GRCm38)	V39A	probably benign	Het
Sorbs1	T	C	19: 40,337,005 (GRCm38)	T382A	probably benign	Het
Sparc	G	A	11: 55,399,211 (GRCm38)	T218I	possibly damaging	Het
Steap1	A	T	5: 5,736,589 (GRCm38)	F283I	probably damaging	Het
Stil	A	G	4: 115,038,474 (GRCm38)	T586A	probably benign	Het
Tbce	T	A	13: 14,019,795 (GRCm38)	D93V	probably damaging	Het
Tcf12	C	T	9: 71,858,840 (GRCm38)	G504S	probably null	Het
Tle4	A	T	19: 14,464,345 (GRCm38)	I435K	probably benign	Het
Tmem245	A	G	4: 56,899,164 (GRCm38)	F254S	probably damaging	Het
Tmem251	A	T	12: 102,744,055 (GRCm38)		probably benign	Het
Tubgcp3	T	C	8: 12,649,722 (GRCm38)	K377R	probably benign	Het
Ush2a	A	T	1: 188,553,275 (GRCm38)	T2003S	probably benign	Het
Usp53	A	G	3: 122,961,363 (GRCm38)	S32P	possibly damaging	Het
Vmn1r78	T	A	7: 12,152,756 (GRCm38)	L98Q	probably damaging	Het
Vmn2r116	A	C	17: 23,401,803 (GRCm38)	Q837P	probably benign	Het
Vmn2r3	T	C	3: 64,275,601 (GRCm38)	I226V	probably benign	Het
Vmn2r84	T	A	10: 130,385,843 (GRCm38)	D836V	probably damaging	Het
Vps13d	A	G	4: 145,087,161 (GRCm38)	F165L	probably benign	Het
Vstm4	A	G	14: 32,863,785 (GRCm38)	E103G	possibly damaging	Het
Zfp870	A	T	17: 32,883,340 (GRCm38)	C339*	probably null	Het

Other mutations in Ctnnd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00597:Ctnnd2	APN	15	30,647,141 (GRCm38)	missense	possibly damaging	0.73
IGL01612:Ctnnd2	APN	15	31,005,018 (GRCm38)	missense	probably damaging	1.00
IGL01923:Ctnnd2	APN	15	30,480,828 (GRCm38)	missense	probably damaging	0.99
IGL02183:Ctnnd2	APN	15	31,020,740 (GRCm38)	missense	probably damaging	1.00
IGL02186:Ctnnd2	APN	15	30,480,793 (GRCm38)	missense	probably damaging	0.99
IGL02226:Ctnnd2	APN	15	30,847,336 (GRCm38)	missense	probably benign	0.01
IGL02307:Ctnnd2	APN	15	30,647,211 (GRCm38)	missense	possibly damaging	0.86
IGL02407:Ctnnd2	APN	15	30,966,768 (GRCm38)	missense	probably damaging	1.00
IGL02474:Ctnnd2	APN	15	30,669,562 (GRCm38)	missense	possibly damaging	0.71
IGL02718:Ctnnd2	APN	15	31,027,616 (GRCm38)	missense	probably damaging	1.00
IGL03249:Ctnnd2	APN	15	30,683,236 (GRCm38)	missense	probably benign	0.45
IGL03328:Ctnnd2	APN	15	30,921,847 (GRCm38)	splice site	probably benign
carpe	UTSW	15	30,905,820 (GRCm38)	missense	probably damaging	1.00
diem	UTSW	15	30,683,347 (GRCm38)	missense	possibly damaging	0.85
P0016:Ctnnd2	UTSW	15	30,966,938 (GRCm38)	missense	probably benign	0.00
R0130:Ctnnd2	UTSW	15	30,921,913 (GRCm38)	missense	probably damaging	1.00
R0408:Ctnnd2	UTSW	15	30,634,677 (GRCm38)	missense	probably damaging	1.00
R0611:Ctnnd2	UTSW	15	31,009,084 (GRCm38)	missense	possibly damaging	0.75
R0894:Ctnnd2	UTSW	15	30,332,155 (GRCm38)	splice site	probably benign
R1112:Ctnnd2	UTSW	15	30,921,880 (GRCm38)	missense	probably damaging	1.00
R1459:Ctnnd2	UTSW	15	30,847,299 (GRCm38)	missense	probably damaging	1.00
R1529:Ctnnd2	UTSW	15	30,887,121 (GRCm38)	missense	possibly damaging	0.91
R1532:Ctnnd2	UTSW	15	30,921,868 (GRCm38)	missense	probably damaging	1.00
R1701:Ctnnd2	UTSW	15	30,921,981 (GRCm38)	missense	probably damaging	1.00
R1807:Ctnnd2	UTSW	15	30,619,871 (GRCm38)	missense	probably damaging	1.00
R1881:Ctnnd2	UTSW	15	31,005,081 (GRCm38)	splice site	probably benign
R1960:Ctnnd2	UTSW	15	30,647,111 (GRCm38)	missense	probably damaging	0.96
R2121:Ctnnd2	UTSW	15	30,669,514 (GRCm38)	missense	probably damaging	1.00
R3839:Ctnnd2	UTSW	15	31,009,028 (GRCm38)	splice site	probably null
R3967:Ctnnd2	UTSW	15	30,646,929 (GRCm38)	missense	possibly damaging	0.81
R3980:Ctnnd2	UTSW	15	30,669,443 (GRCm38)	missense	probably benign	0.14
R4207:Ctnnd2	UTSW	15	30,972,827 (GRCm38)	missense	probably damaging	0.99
R4279:Ctnnd2	UTSW	15	30,905,820 (GRCm38)	missense	probably damaging	1.00
R4498:Ctnnd2	UTSW	15	30,619,874 (GRCm38)	missense	probably damaging	1.00
R4622:Ctnnd2	UTSW	15	31,009,113 (GRCm38)	missense	probably benign	0.00
R4622:Ctnnd2	UTSW	15	30,887,169 (GRCm38)	missense	probably benign	0.17
R4860:Ctnnd2	UTSW	15	30,881,167 (GRCm38)	missense	probably damaging	1.00
R4979:Ctnnd2	UTSW	15	31,009,075 (GRCm38)	missense	probably damaging	1.00
R5086:Ctnnd2	UTSW	15	30,683,347 (GRCm38)	missense	possibly damaging	0.85
R5330:Ctnnd2	UTSW	15	30,332,115 (GRCm38)	missense	probably damaging	1.00
R5459:Ctnnd2	UTSW	15	30,887,188 (GRCm38)	missense	probably damaging	1.00
R5595:Ctnnd2	UTSW	15	30,669,543 (GRCm38)	missense	probably benign	0.07
R5809:Ctnnd2	UTSW	15	30,847,377 (GRCm38)	missense	probably damaging	1.00
R5987:Ctnnd2	UTSW	15	30,683,241 (GRCm38)	missense	probably benign
R6245:Ctnnd2	UTSW	15	30,905,748 (GRCm38)	missense	probably damaging	1.00
R6379:Ctnnd2	UTSW	15	30,634,698 (GRCm38)	missense	probably damaging	1.00
R6737:Ctnnd2	UTSW	15	30,966,834 (GRCm38)	nonsense	probably null
R6979:Ctnnd2	UTSW	15	30,619,230 (GRCm38)	missense	probably damaging	0.99
R7133:Ctnnd2	UTSW	15	30,480,849 (GRCm38)	missense	possibly damaging	0.47
R7179:Ctnnd2	UTSW	15	30,683,364 (GRCm38)	missense	possibly damaging	0.95
R7267:Ctnnd2	UTSW	15	30,683,355 (GRCm38)	missense	probably benign	0.13
R7275:Ctnnd2	UTSW	15	30,905,709 (GRCm38)	missense	possibly damaging	0.94
R7386:Ctnnd2	UTSW	15	30,966,768 (GRCm38)	missense	probably damaging	1.00
R7649:Ctnnd2	UTSW	15	31,027,484 (GRCm38)	missense	probably benign	0.11
R7814:Ctnnd2	UTSW	15	31,020,728 (GRCm38)	missense	probably benign	0.00
R7849:Ctnnd2	UTSW	15	31,027,587 (GRCm38)	missense	probably damaging	1.00
R7857:Ctnnd2	UTSW	15	30,619,930 (GRCm38)	missense	probably benign	0.01
R8057:Ctnnd2	UTSW	15	30,847,351 (GRCm38)	missense	possibly damaging	0.89
R8236:Ctnnd2	UTSW	15	30,647,018 (GRCm38)	missense	probably benign
R8260:Ctnnd2	UTSW	15	30,634,733 (GRCm38)	missense	possibly damaging	0.84
R8411:Ctnnd2	UTSW	15	30,647,033 (GRCm38)	missense	probably benign	0.33
R8802:Ctnnd2	UTSW	15	30,966,876 (GRCm38)	missense	probably damaging	1.00
R8891:Ctnnd2	UTSW	15	30,619,930 (GRCm38)	missense	probably benign	0.01
R8907:Ctnnd2	UTSW	15	30,905,727 (GRCm38)	missense	probably damaging	1.00
R8989:Ctnnd2	UTSW	15	30,669,514 (GRCm38)	missense	probably damaging	1.00
R9017:Ctnnd2	UTSW	15	30,881,170 (GRCm38)	missense	probably damaging	0.96
R9035:Ctnnd2	UTSW	15	30,332,016 (GRCm38)	missense	possibly damaging	0.77
R9061:Ctnnd2	UTSW	15	30,806,738 (GRCm38)	missense	probably damaging	1.00
R9303:Ctnnd2	UTSW	15	30,966,891 (GRCm38)	missense	probably damaging	0.99
R9475:Ctnnd2	UTSW	15	30,881,130 (GRCm38)	missense	probably damaging	1.00
Z1088:Ctnnd2	UTSW	15	30,966,813 (GRCm38)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- TCTGAAACTCTGAGATACCATGTTGG -3'
(R):5'- GAAATACCGTGGTCACTTCCC -3'

Sequencing Primer
(F):5'- ACTCTGAGATACCATGTTGGGAGTTC -3'
(R):5'- GTGGTCACTTCCCATGGCTACTAG -3'

Posted On

2016-03-01