Mutagenetix > Incidental Mutation

Incidental Mutation 'R7849:Ctnnd2'

606838

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7849 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30172739-31029487 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 31027733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 1219 (V1219G)

Ref Sequence

ENSEMBL: ENSMUSP00000080427 (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: V1219G

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

SMART Domains

Protein: ENSMUSP00000080427
Gene: ENSMUSG00000022240
AA Change: V1219G

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: V1194G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	T	C	1: 89,558,141 (GRCm39)	V143A	probably damaging	Het
Agmo	A	G	12: 37,292,044 (GRCm39)	R2G	probably benign	Het
Alms1	A	T	6: 85,598,479 (GRCm39)	I1102L	possibly damaging	Het
Ankrd13a	T	C	5: 114,929,343 (GRCm39)	I140T	possibly damaging	Het
Arhgef10l	T	A	4: 140,311,245 (GRCm39)		probably null	Het
Atxn2l	A	T	7: 126,092,345 (GRCm39)	H967Q	possibly damaging	Het
B3galnt2	A	T	13: 14,169,077 (GRCm39)	N370I	probably benign	Het
Bltp1	T	A	3: 37,080,477 (GRCm39)	I325N		Het
Cacna1e	C	T	1: 154,509,464 (GRCm39)	D264N	probably damaging	Het
Ccdc112	A	T	18: 46,429,390 (GRCm39)	Y103N	probably benign	Het
Ccdc68	A	C	18: 70,080,246 (GRCm39)	E197A	probably damaging	Het
Cdr1	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	X: 60,228,130 (GRCm39)		probably benign	Het
Cntn3	T	C	6: 102,242,392 (GRCm39)	M418V	probably benign	Het
Cpne4	T	A	9: 104,563,718 (GRCm39)	C32S	probably damaging	Het
Csf2rb2	A	T	15: 78,168,621 (GRCm39)	S845T	probably benign	Het
Cyp4f14	G	A	17: 33,128,325 (GRCm39)	A230V	probably benign	Het
Cyth1	TGGGCAA	T	11: 118,074,749 (GRCm39)		probably null	Het
Dmxl1	T	A	18: 50,094,214 (GRCm39)	C2897S	probably benign	Het
Elavl2	T	A	4: 91,260,280 (GRCm39)		probably benign	Het
Elp1	A	T	4: 56,758,968 (GRCm39)	S1191T	possibly damaging	Het
Fam135a	T	C	1: 24,083,331 (GRCm39)	E298G	probably damaging	Het
Fbn1	A	T	2: 125,151,405 (GRCm39)	I2534N	probably damaging	Het
Fibin	A	G	2: 110,192,825 (GRCm39)	S106P	probably damaging	Het
Fndc3a	C	T	14: 72,802,100 (GRCm39)	V568M	probably benign	Het
Frem2	A	G	3: 53,479,795 (GRCm39)	F1966S	probably damaging	Het
Gata4	T	G	14: 63,442,174 (GRCm39)	E216A	possibly damaging	Het
Gmps	T	A	3: 63,922,984 (GRCm39)	V649E	probably benign	Het
Golga4	A	T	9: 118,388,379 (GRCm39)	N1834Y	possibly damaging	Het
Gpr89	A	T	3: 96,778,806 (GRCm39)	Y422*	probably null	Het
Gzmc	A	T	14: 56,469,829 (GRCm39)	F157Y	probably benign	Het
Hdhd2	A	G	18: 77,052,962 (GRCm39)	D204G	probably damaging	Het
Hspa4	T	G	11: 53,171,530 (GRCm39)	T225P	possibly damaging	Het
Klhl30	T	A	1: 91,287,059 (GRCm39)	D448E	probably benign	Het
Kptn	A	G	7: 15,853,966 (GRCm39)	Y28C	probably damaging	Het
Krt10	A	T	11: 99,278,432 (GRCm39)	N242K	probably damaging	Het
Krt6b	A	T	15: 101,587,009 (GRCm39)	N254K	probably damaging	Het
Lama5	G	T	2: 179,843,605 (GRCm39)	D447E	probably damaging	Het
Lgr6	T	C	1: 134,915,419 (GRCm39)	Y720C	probably damaging	Het
Macf1	G	C	4: 123,301,392 (GRCm39)	P1037A	probably benign	Het
Map3k19	C	T	1: 127,751,383 (GRCm39)	G656D	probably benign	Het
Mroh7	A	C	4: 106,578,287 (GRCm39)	N130K	probably benign	Het
Muc16	T	C	9: 18,551,801 (GRCm39)	T4831A	probably benign	Het
Nfkb1	A	T	3: 135,291,173 (GRCm39)	L533H		Het
Oaf	G	A	9: 43,134,077 (GRCm39)	R215C	probably damaging	Het
Or4x11	A	G	2: 89,867,626 (GRCm39)	Y121C	probably damaging	Het
Or51k1	C	A	7: 103,661,510 (GRCm39)	R133L	possibly damaging	Het
Or5m3b	G	A	2: 85,871,949 (GRCm39)	V97I	probably benign	Het
Or8a1	A	G	9: 37,642,003 (GRCm39)	I92T	probably damaging	Het
Or8g2b	A	G	9: 39,751,618 (GRCm39)	D296G	possibly damaging	Het
Otub1	T	C	19: 7,177,425 (GRCm39)	D74G	probably damaging	Het
Oxct2b	A	G	4: 123,010,680 (GRCm39)	E200G	probably damaging	Het
Pcdh1	T	C	18: 38,322,662 (GRCm39)	D1057G	probably benign	Het
Pkd1	T	A	17: 24,805,174 (GRCm39)	V3242E	probably damaging	Het
Pkd1l3	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	8: 110,350,420 (GRCm39)		probably benign	Het
Pla2g4e	T	A	2: 120,015,803 (GRCm39)	D247V	probably benign	Het
Pole	T	A	5: 110,480,414 (GRCm39)	M1995K	probably benign	Het
Ppargc1a	T	C	5: 51,705,855 (GRCm39)	E76G	probably benign	Het
Pten	G	T	19: 32,777,396 (GRCm39)	R130L	probably damaging	Het
Ptprj	A	T	2: 90,274,804 (GRCm39)	V1186D	probably damaging	Het
Rab4a	T	A	8: 124,532,876 (GRCm39)	M1K	probably null	Het
Rapgef3	C	A	15: 97,656,271 (GRCm39)		probably null	Het
Rarb	C	A	14: 16,548,473 (GRCm38)	V83F	probably damaging	Het
Rgs22	A	T	15: 36,099,858 (GRCm39)	F410I	probably damaging	Het
Rhpn2	A	C	7: 35,080,912 (GRCm39)	E459A	probably benign	Het
Rims4	A	T	2: 163,705,974 (GRCm39)	L220Q	probably damaging	Het
Robo2	T	C	16: 73,770,132 (GRCm39)	T531A	possibly damaging	Het
Sbf2	T	C	7: 109,971,717 (GRCm39)	H839R	probably damaging	Het
Setbp1	T	C	18: 78,900,068 (GRCm39)	R1200G	probably benign	Het
Slc12a8	C	A	16: 33,444,930 (GRCm39)	P275T	probably damaging	Het
Slc23a1	G	T	18: 35,757,554 (GRCm39)	T239N	probably benign	Het
Slc37a3	T	A	6: 39,341,517 (GRCm39)	T40S	possibly damaging	Het
Speer4c1	T	C	5: 15,915,925 (GRCm39)		probably null	Het
Tet1	A	T	10: 62,655,252 (GRCm39)	H1556Q	possibly damaging	Het
Tfcp2l1	T	A	1: 118,603,325 (GRCm39)	D454E	probably damaging	Het
Timd6	T	A	11: 46,468,058 (GRCm39)	I44K	not run	Het
Tmem123	A	T	9: 7,790,890 (GRCm39)	M64L	probably benign	Het
Tmem62	A	T	2: 120,814,853 (GRCm39)	H172L	probably benign	Het
Trim15	T	G	17: 37,177,764 (GRCm39)	Y77S	probably benign	Het
Trim37	T	A	11: 87,092,270 (GRCm39)	V693E	possibly damaging	Het
Trim65	A	G	11: 116,017,082 (GRCm39)	L460S	probably damaging	Het
Ttc39a	T	C	4: 109,279,687 (GRCm39)	V109A	probably benign	Het
Ttc7	A	G	17: 87,600,374 (GRCm39)	M163V	probably null	Het
Vps13b	T	C	15: 35,423,378 (GRCm39)	S233P	probably damaging	Het
Vwf	T	C	6: 125,633,766 (GRCm39)	L2084P		Het
Wasl	A	G	6: 24,633,922 (GRCm39)	V114A	possibly damaging	Het
Wdr5	A	G	2: 27,409,463 (GRCm39)	S62G	probably damaging	Het
Wfdc11	G	T	2: 164,507,445 (GRCm39)	S4*	probably null	Het
Wfikkn2	C	A	11: 94,129,810 (GRCm39)	M110I	probably benign	Het
Wiz	T	G	17: 32,576,760 (GRCm39)	E588A	probably benign	Het
Xylt1	A	G	7: 117,255,891 (GRCm39)	H821R	probably benign	Het
Zbtb7c	A	T	18: 76,278,772 (GRCm39)	H410L	probably benign	Het
Zc3h18	T	A	8: 123,110,710 (GRCm39)	D186E	probably damaging	Het
Zfp687	G	T	3: 94,917,673 (GRCm39)	L700I	possibly damaging	Het
Zmym2	T	A	14: 57,184,020 (GRCm39)	M994K	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
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
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'- AGGTTTCCACACAGCCTGTC -3'
(R):5'- ACAGCCTTCCTACGGAACAG -3'

Sequencing Primer
(F):5'- ACACAGCCTGTCCCTCAG -3'
(R):5'- TTCCTACGGAACAGGCTTTAAC -3'

Posted On

2019-12-20