Mutagenetix > Incidental Mutation

Incidental Mutation 'R4622:Ctnnd2'

346271

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

041887-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4622 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30172739-31029487 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30887315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 781 (M781L)

Ref Sequence

ENSEMBL: ENSMUSP00000154410 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000081728
AA Change: M781L

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000080427
Gene: ENSMUSG00000022240
AA Change: M781L

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 benign
Transcript: ENSMUST00000226119
AA Change: M781L

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.0692

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (107/109)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	T	3: 59,914,474 (GRCm39)	N26Y	probably damaging	Het
Aass	C	T	6: 23,092,329 (GRCm39)	D194N	probably damaging	Het
Acp7	T	C	7: 28,313,822 (GRCm39)	Y404C	probably damaging	Het
Acsl1	A	T	8: 46,979,410 (GRCm39)	I421L	probably benign	Het
Adgrb3	A	T	1: 25,865,569 (GRCm39)	D91E	probably damaging	Het
Adgrg3	T	C	8: 95,767,153 (GRCm39)	S503P	probably damaging	Het
Adgrg6	A	T	10: 14,317,243 (GRCm39)	C526S	probably damaging	Het
Arhgap32	A	T	9: 32,150,644 (GRCm39)	I15F	possibly damaging	Het
Arid1b	G	T	17: 5,045,325 (GRCm39)		probably benign	Het
Asnsd1	A	G	1: 53,387,378 (GRCm39)	V83A	probably benign	Het
Atg101	A	G	15: 101,191,213 (GRCm39)		probably benign	Het
Atp8a1	T	C	5: 67,840,056 (GRCm39)		probably benign	Het
Aurkb	T	A	11: 68,939,188 (GRCm39)	L137Q	probably damaging	Het
AY702103	A	T	17: 50,547,029 (GRCm39)		noncoding transcript	Het
B3gnt9	A	G	8: 105,980,477 (GRCm39)	S304P	probably benign	Het
Babam2	T	C	5: 32,164,656 (GRCm39)	V310A	probably damaging	Het
Batf	A	G	12: 85,755,327 (GRCm39)	D60G	possibly damaging	Het
Baz1a	A	T	12: 54,988,300 (GRCm39)	I283K	probably benign	Het
Bmerb1	A	C	16: 13,911,786 (GRCm39)	E44A	possibly damaging	Het
Bst1	T	G	5: 43,976,261 (GRCm39)		probably benign	Het
C2	C	A	17: 35,082,650 (GRCm39)	V490L	probably damaging	Het
Cacna1e	T	C	1: 154,347,311 (GRCm39)	E952G	possibly damaging	Het
Ccnyl1	A	G	1: 64,757,417 (GRCm39)	D262G	probably damaging	Het
Cdc42bpa	A	T	1: 179,902,223 (GRCm39)	K493N	probably damaging	Het
Cenpe	A	G	3: 134,949,469 (GRCm39)	T85A	probably benign	Het
Ces2e	T	A	8: 105,655,341 (GRCm39)		probably null	Het
Chd3	T	A	11: 69,239,834 (GRCm39)	R1665W	probably damaging	Het
Cpm	A	G	10: 117,506,202 (GRCm39)	N188D	possibly damaging	Het
Cspg4b	A	G	13: 113,456,615 (GRCm39)	D887G	probably benign	Het
Cux1	T	C	5: 136,337,154 (GRCm39)	K657R	probably damaging	Het
Ddx54	G	A	5: 120,764,488 (GRCm39)	V732M	probably damaging	Het
Ecrg4	G	T	1: 43,781,481 (GRCm39)	R121L	possibly damaging	Het
Efna5	T	C	17: 62,958,040 (GRCm39)	D72G	probably benign	Het
Eva1c	T	A	16: 90,694,343 (GRCm39)		probably null	Het
Evi5l	T	C	8: 4,252,909 (GRCm39)		probably benign	Het
Fasl	A	G	1: 161,614,703 (GRCm39)	L120P	probably benign	Het
H2-M9	A	T	17: 36,952,716 (GRCm39)		probably null	Het
Hdgf	C	A	3: 87,821,884 (GRCm39)	N198K	possibly damaging	Het
Hspa9	A	T	18: 35,082,090 (GRCm39)	M172K	possibly damaging	Het
Il1r1	A	C	1: 40,351,580 (GRCm39)	L406F	probably damaging	Het
Il31	T	C	5: 123,618,498 (GRCm39)	D96G	probably damaging	Het
Inhbc	A	G	10: 127,193,146 (GRCm39)	I290T	probably benign	Het
Lrp2	A	T	2: 69,290,693 (GRCm39)	V3589D	possibly damaging	Het
Lrrc14	A	T	15: 76,600,540 (GRCm39)		probably benign	Het
Lyst	G	A	13: 13,848,983 (GRCm39)	A2057T	probably benign	Het
Macf1	A	G	4: 123,266,141 (GRCm39)		probably null	Het
Mapk10	C	A	5: 103,137,590 (GRCm39)	G209V	probably damaging	Het
Mcoln1	A	G	8: 3,555,923 (GRCm39)	I73V	probably damaging	Het
Met	G	T	6: 17,513,383 (GRCm39)	R411L	probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mrpl4	G	A	9: 20,918,793 (GRCm39)	R176Q	probably damaging	Het
Mrtfb	G	A	16: 13,150,570 (GRCm39)	G102D	probably damaging	Het
Mtmr3	T	C	11: 4,441,067 (GRCm39)	T528A	possibly damaging	Het
Mtmr7	A	T	8: 41,034,583 (GRCm39)	N246K	probably damaging	Het
Mycbp2	G	T	14: 103,457,415 (GRCm39)	T1627K	probably benign	Het
Necab3	A	G	2: 154,397,502 (GRCm39)		probably null	Het
Nr1d1	C	T	11: 98,660,710 (GRCm39)	C419Y	probably damaging	Het
Nwd1	C	A	8: 73,393,928 (GRCm39)	A397E	probably damaging	Het
Oas1f	A	T	5: 120,986,390 (GRCm39)	K114N	probably damaging	Het
Or13a18	T	A	7: 140,190,611 (GRCm39)	C169*	probably null	Het
Or1e35	C	A	11: 73,797,737 (GRCm39)	V194F	possibly damaging	Het
Or51ab3	G	T	7: 103,201,361 (GRCm39)	R123L	probably benign	Het
Or5k8	A	T	16: 58,644,469 (GRCm39)	I201N	possibly damaging	Het
Or5w13	T	A	2: 87,523,987 (GRCm39)	K80*	probably null	Het
Osbpl8	T	C	10: 111,127,357 (GRCm39)	S814P	probably benign	Het
Pcdhgb7	A	T	18: 37,886,183 (GRCm39)	Q451L	probably benign	Het
Pde7b	C	T	10: 20,294,538 (GRCm39)	R300Q	probably damaging	Het
Pgghg	A	G	7: 140,521,409 (GRCm39)		probably null	Het
Plcg1	A	G	2: 160,589,688 (GRCm39)		probably benign	Het
Plxna2	A	T	1: 194,494,458 (GRCm39)	I1892L	probably benign	Het
Ppt2	A	G	17: 34,844,875 (GRCm39)	V123A	probably benign	Het
Prdx5	G	T	19: 6,884,341 (GRCm39)		probably benign	Het
Prpf40b	A	G	15: 99,214,197 (GRCm39)	D819G	probably benign	Het
Prss3l	A	T	6: 41,422,246 (GRCm39)	I53N	probably damaging	Het
Psap	T	G	10: 60,136,630 (GRCm39)	C536W	probably damaging	Het
Rab3gap1	T	C	1: 127,870,156 (GRCm39)	C919R	probably benign	Het
Racgap1	C	A	15: 99,524,087 (GRCm39)	S440I	probably benign	Het
Rec8	C	T	14: 55,862,215 (GRCm39)	R480C	probably damaging	Het
Reg3d	A	G	6: 78,354,442 (GRCm39)	L53S	probably benign	Het
Rnft2	T	A	5: 118,370,471 (GRCm39)	S244C	probably damaging	Het
Scn2a	T	C	2: 65,582,371 (GRCm39)	V1573A	probably benign	Het
Selenoo	G	T	15: 88,979,910 (GRCm39)	G353*	probably null	Het
Siva1	A	G	12: 112,611,501 (GRCm39)	Y34C	probably damaging	Het
Slc2a4	C	T	11: 69,835,600 (GRCm39)		probably benign	Het
Slc39a12	A	T	2: 14,405,136 (GRCm39)	T243S	probably benign	Het
Slc9b2	T	C	3: 135,038,279 (GRCm39)	I453T	probably damaging	Het
Spag17	A	G	3: 100,010,559 (GRCm39)	T2018A	probably benign	Het
Tbc1d24	A	T	17: 24,427,865 (GRCm39)	D32E	probably benign	Het
Tet1	T	A	10: 62,655,253 (GRCm39)	H1556L	possibly damaging	Het
Tmem59	A	T	4: 107,047,915 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,731,296 (GRCm39)		probably benign	Het
Uimc1	A	T	13: 55,225,307 (GRCm39)	L89H	probably damaging	Het
Vipas39	A	G	12: 87,291,317 (GRCm39)	I343T	probably damaging	Het
Vmn2r71	G	T	7: 85,269,817 (GRCm39)	V443L	probably benign	Het
Zbtb14	G	A	17: 69,695,342 (GRCm39)	D347N	possibly damaging	Het
Zfp980	G	T	4: 145,428,627 (GRCm39)	C452F	probably damaging	Het
Zmym5	T	A	14: 57,049,693 (GRCm39)		probably benign	Het
Znfx1	T	C	2: 166,883,673 (GRCm39)	T145A	possibly 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
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
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'- CATAGGACCTTCCAAGCTTATCC -3'
(R):5'- CAGTCATCTATCAGTGGTGATATTG -3'

Sequencing Primer
(F):5'- CAAATCCGAGGACTAACGTGTC -3'
(R):5'- CAGTGGTGATATTGTATTGAGGAAG -3'

Posted On

2015-09-25