Mutagenetix > Incidental Mutation

Incidental Mutation 'R9475:Ctnnd2'

715732

Institutional Source

Beutler Lab

Gene Symbol

Ctnnd2

Ensembl Gene

ENSMUSG00000022240

Gene Name

catenin (cadherin associated protein), delta 2

Synonyms

Catnd2, neurojugin, Nprap

MMRRC Submission

Accession Numbers

NCBI RefSeq: NM_008729.2; MGI:1195966

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9475 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30172593-31029341 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30881130 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 719 (S719G)

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: S719G

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

SMART Domains

Protein: ENSMUSP00000080427
Gene: ENSMUSG00000022240
AA Change: S719G

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: S719G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	T	7: 46,016,468	W243R	probably damaging	Het
Ablim1	T	G	19: 57,239,180	K18Q	probably benign	Het
Adamts18	T	A	8: 113,777,938	N174Y	possibly damaging	Het
Agbl2	A	G	2: 90,784,093	H23R	probably benign	Het
Akap6	T	G	12: 53,010,552	Y934D	probably damaging	Het
Alas1	C	T	9: 106,234,062	S635N	probably benign	Het
Ankrd24	A	G	10: 81,642,299		probably null	Het
Atp6v0a4	A	G	6: 38,060,982	L560P	probably damaging	Het
Cacng1	C	T	11: 107,716,292	V34M	possibly damaging	Het
Clcn3	C	T	8: 60,934,517	A233T	probably damaging	Het
Cntnap3	A	G	13: 64,799,135	F160S	probably damaging	Het
Exosc2	G	A	2: 31,674,743	V107I	probably benign	Het
Fam83b	C	A	9: 76,491,803	V673F	probably benign	Het
Fras1	T	C	5: 96,780,070	F3781L	probably damaging	Het
Gal3st1	T	A	11: 3,998,660	L289H	probably damaging	Het
Garem1	T	C	18: 21,148,313	I329V	probably benign	Het
Gli3	G	A	13: 15,725,711	G1228S	possibly damaging	Het
Gpbp1l1	T	C	4: 116,574,361	F72S	possibly damaging	Het
Hao1	T	A	2: 134,548,261	M53L	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,266,277		probably benign	Het
Iqcm	A	G	8: 75,753,455	E347G	probably damaging	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kcnrg	A	G	14: 61,607,657	I49V	possibly damaging	Het
Lrrc8e	G	A	8: 4,235,346	G524S	probably benign	Het
Lrrn1	A	T	6: 107,568,300	Y353F	probably damaging	Het
Mdn1	A	G	4: 32,739,849	D3701G	possibly damaging	Het
Mtmr2	A	G	9: 13,805,471	T623A	probably benign	Het
Ndst4	C	A	3: 125,714,647	S287*	probably null	Het
Ntrk3	A	C	7: 78,302,732	M579R	probably benign	Het
Oas1a	G	A	5: 120,899,254	L237F	probably damaging	Het
Olfr1350	A	T	7: 6,570,819	Y276F	probably damaging	Het
Olfr169	T	C	16: 19,566,520	D121G	probably benign	Het
Olfr857	T	C	9: 19,713,643	M272T	probably benign	Het
Paqr5	T	A	9: 61,956,225	I272F	probably damaging	Het
Pcdha11	T	A	18: 37,007,538	V740E	probably damaging	Het
Pdgfra	A	C	5: 75,167,927	N240T	possibly damaging	Het
Plbd2	G	A	5: 120,494,380	Q186*	probably null	Het
Plce1	G	A	19: 38,777,893	E2121K	possibly damaging	Het
Ppargc1a	C	A	5: 51,495,738	G161C	probably damaging	Het
Ptprk	T	C	10: 28,334,480	I166T	possibly damaging	Het
Rhox8	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	X: 37,878,114		probably benign	Het
Rpap2	T	A	5: 107,620,589	L431Q	probably damaging	Het
Rslcan18	T	A	13: 67,102,064	K160*	probably null	Het
Sema7a	T	C	9: 57,954,905	F180L	probably benign	Het
Sh2d3c	C	T	2: 32,753,027	L741F	probably damaging	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Skint6	C	T	4: 112,806,840		probably null	Het
Skiv2l	A	T	17: 34,841,102	D897E	probably benign	Het
Slc35f3	T	C	8: 126,382,254	S181P	probably damaging	Het
Slc4a9	A	T	18: 36,529,216	E127V	probably null	Het
Spata5	T	C	3: 37,431,909	V260A	probably benign	Het
Speg	C	T	1: 75,388,091	T372I	probably damaging	Het
Syce1l	A	G	8: 113,655,103	T204A	probably benign	Het
Tas2r138	T	A	6: 40,612,458	M285L	probably benign	Het
Tbc1d10a	G	C	11: 4,213,604	K285N	probably damaging	Het
Trim9	T	A	12: 70,346,454	M239L	probably benign	Het
Trp53bp1	A	G	2: 121,209,280	S1293P	probably benign	Het
Uaca	C	T	9: 60,872,216	T1295M	possibly damaging	Het
Ubald1	G	T	16: 4,875,569	Q161K	possibly damaging	Het
Ugt1a10	C	T	1: 88,216,260	R201C	probably damaging	Het
Vps45	T	G	3: 96,042,925	T231P	probably damaging	Het
Wdr17	A	T	8: 54,635,477	D1186E	probably benign	Het
Zfp534	G	A	4: 147,682,274	T8I	probably benign	Het
Zfp68	T	C	5: 138,607,255	N269D	probably benign	Het

Other mutations in Ctnnd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00597:Ctnnd2	APN	15	30647141	missense	possibly damaging	0.73
IGL01612:Ctnnd2	APN	15	31005018	missense	probably damaging	1.00
IGL01923:Ctnnd2	APN	15	30480828	missense	probably damaging	0.99
IGL02183:Ctnnd2	APN	15	31020740	missense	probably damaging	1.00
IGL02186:Ctnnd2	APN	15	30480793	missense	probably damaging	0.99
IGL02226:Ctnnd2	APN	15	30847336	missense	probably benign	0.01
IGL02307:Ctnnd2	APN	15	30647211	missense	possibly damaging	0.86
IGL02407:Ctnnd2	APN	15	30966768	missense	probably damaging	1.00
IGL02474:Ctnnd2	APN	15	30669562	missense	possibly damaging	0.71
IGL02718:Ctnnd2	APN	15	31027616	missense	probably damaging	1.00
IGL03249:Ctnnd2	APN	15	30683236	missense	probably benign	0.45
IGL03328:Ctnnd2	APN	15	30921847	splice site	probably benign
carpe	UTSW	15	30905820	missense	probably damaging	1.00
diem	UTSW	15	30683347	missense	possibly damaging	0.85
P0016:Ctnnd2	UTSW	15	30966938	missense	probably benign	0.00
R0130:Ctnnd2	UTSW	15	30921913	missense	probably damaging	1.00
R0408:Ctnnd2	UTSW	15	30634677	missense	probably damaging	1.00
R0611:Ctnnd2	UTSW	15	31009084	missense	possibly damaging	0.75
R0894:Ctnnd2	UTSW	15	30332155	splice site	probably benign
R1112:Ctnnd2	UTSW	15	30921880	missense	probably damaging	1.00
R1459:Ctnnd2	UTSW	15	30847299	missense	probably damaging	1.00
R1529:Ctnnd2	UTSW	15	30887121	missense	possibly damaging	0.91
R1532:Ctnnd2	UTSW	15	30921868	missense	probably damaging	1.00
R1701:Ctnnd2	UTSW	15	30921981	missense	probably damaging	1.00
R1807:Ctnnd2	UTSW	15	30619871	missense	probably damaging	1.00
R1881:Ctnnd2	UTSW	15	31005081	splice site	probably benign
R1960:Ctnnd2	UTSW	15	30647111	missense	probably damaging	0.96
R2121:Ctnnd2	UTSW	15	30669514	missense	probably damaging	1.00
R3839:Ctnnd2	UTSW	15	31009028	splice site	probably null
R3967:Ctnnd2	UTSW	15	30646929	missense	possibly damaging	0.81
R3980:Ctnnd2	UTSW	15	30669443	missense	probably benign	0.14
R4207:Ctnnd2	UTSW	15	30972827	missense	probably damaging	0.99
R4279:Ctnnd2	UTSW	15	30905820	missense	probably damaging	1.00
R4498:Ctnnd2	UTSW	15	30619874	missense	probably damaging	1.00
R4622:Ctnnd2	UTSW	15	30887169	missense	probably benign	0.17
R4622:Ctnnd2	UTSW	15	31009113	missense	probably benign	0.00
R4860:Ctnnd2	UTSW	15	30881167	missense	probably damaging	1.00
R4860:Ctnnd2	UTSW	15	30881167	missense	probably damaging	1.00
R4979:Ctnnd2	UTSW	15	31009075	missense	probably damaging	1.00
R5086:Ctnnd2	UTSW	15	30683347	missense	possibly damaging	0.85
R5330:Ctnnd2	UTSW	15	30332115	missense	probably damaging	1.00
R5459:Ctnnd2	UTSW	15	30887188	missense	probably damaging	1.00
R5595:Ctnnd2	UTSW	15	30669543	missense	probably benign	0.07
R5809:Ctnnd2	UTSW	15	30847377	missense	probably damaging	1.00
R5987:Ctnnd2	UTSW	15	30683241	missense	probably benign
R6245:Ctnnd2	UTSW	15	30905748	missense	probably damaging	1.00
R6379:Ctnnd2	UTSW	15	30634698	missense	probably damaging	1.00
R6737:Ctnnd2	UTSW	15	30966834	nonsense	probably null
R6979:Ctnnd2	UTSW	15	30619230	missense	probably damaging	0.99
R7133:Ctnnd2	UTSW	15	30480849	missense	possibly damaging	0.47
R7179:Ctnnd2	UTSW	15	30683364	missense	possibly damaging	0.95
R7267:Ctnnd2	UTSW	15	30683355	missense	probably benign	0.13
R7275:Ctnnd2	UTSW	15	30905709	missense	possibly damaging	0.94
R7386:Ctnnd2	UTSW	15	30966768	missense	probably damaging	1.00
R7649:Ctnnd2	UTSW	15	31027484	missense	probably benign	0.11
R7814:Ctnnd2	UTSW	15	31020728	missense	probably benign	0.00
R7849:Ctnnd2	UTSW	15	31027587	missense	probably damaging	1.00
R7857:Ctnnd2	UTSW	15	30619930	missense	probably benign	0.01
R8057:Ctnnd2	UTSW	15	30847351	missense	possibly damaging	0.89
R8236:Ctnnd2	UTSW	15	30647018	missense	probably benign
R8260:Ctnnd2	UTSW	15	30634733	missense	possibly damaging	0.84
R8411:Ctnnd2	UTSW	15	30647033	missense	probably benign	0.33
R8802:Ctnnd2	UTSW	15	30966876	missense	probably damaging	1.00
R8891:Ctnnd2	UTSW	15	30619930	missense	probably benign	0.01
R8907:Ctnnd2	UTSW	15	30905727	missense	probably damaging	1.00
R8989:Ctnnd2	UTSW	15	30669514	missense	probably damaging	1.00
R9017:Ctnnd2	UTSW	15	30881170	missense	probably damaging	0.96
R9035:Ctnnd2	UTSW	15	30332016	missense	possibly damaging	0.77
R9061:Ctnnd2	UTSW	15	30806738	missense	probably damaging	1.00
R9303:Ctnnd2	UTSW	15	30966891	missense	probably damaging	0.99
Z1088:Ctnnd2	UTSW	15	30966813	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- CTGAAACTCTGAGATACCATGTTGG -3'
(R):5'- TGAAATACCGTGGTCACTTCC -3'

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

Posted On

2022-06-15