Mutagenetix > Incidental Mutations

Incidental Mutation 'R1953:Cdh10'

217507

Institutional Source

Beutler Lab

Gene Symbol

Cdh10

Ensembl Gene

ENSMUSG00000022321

Gene Name

cadherin 10

Synonyms

T2-cadherin, C030003B10Rik, C030011H18Rik, A830016G23Rik

MMRRC Submission

039967-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R1953 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18818947-19014236 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 18966911 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128782 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040562] [ENSMUST00000166873] [ENSMUST00000176146]

Predicted Effect

probably null
Transcript: ENSMUST00000040562

SMART Domains

Protein: ENSMUSP00000042199
Gene: ENSMUSG00000022321

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
CA	77	158	2.8e-14	SMART
CA	182	267	1.03e-30	SMART
CA	291	383	6.04e-19	SMART
CA	406	487	6.23e-21	SMART
CA	510	594	3.56e-7	SMART
transmembrane domain	612	634	N/A	INTRINSIC
Pfam:Cadherin_C	635	782	9.2e-58	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000166873

SMART Domains

Protein: ENSMUSP00000128782
Gene: ENSMUSG00000022321

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
CA	77	158	2.8e-14	SMART
CA	182	267	1.03e-30	SMART
CA	291	383	6.04e-19	SMART
CA	406	487	6.23e-21	SMART
CA	510	594	3.56e-7	SMART
transmembrane domain	612	634	N/A	INTRINSIC
Pfam:Cadherin_C	637	783	1.1e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176146

SMART Domains

Protein: ENSMUSP00000135546
Gene: ENSMUSG00000022321

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
CA	77	158	2.8e-14	SMART
CA	182	267	1.03e-30	SMART
CA	291	383	6.04e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176593

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the cadherin family of calcium-dependent glycoproteins that mediate cell adhesion and regulate many morphogenetic events during development. The encoded preproprotein is further processed to generate a mature protein. This gene is expressed in the blood-brain barrier and retinal endothelia suggesting a role in the development and maintenance of brain barrier. Alternative splicing results in multiple transcript variants. Multiple distinct genes of the cadherin family, including this gene, are found on chromosome 15. [provided by RefSeq, Oct 2015]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930435E12Rik	G	T	16: 38,827,913	T278K	possibly damaging	Het
5730455P16Rik	A	T	11: 80,377,946	D12E	probably damaging	Het
Abca15	C	T	7: 120,361,432	R706C	probably damaging	Het
Actr1a	G	A	19: 46,380,948	S209F	probably benign	Het
Adcy1	A	G	11: 7,078,991	N247S	probably benign	Het
Anapc4	T	C	5: 52,839,688	L101S	probably damaging	Het
Asap3	C	T	4: 136,227,456	R60*	probably null	Het
Ascc3	T	C	10: 50,845,630	S2060P	probably benign	Het
Atp9b	G	A	18: 80,754,307	T851I	possibly damaging	Het
Borcs5	A	G	6: 134,710,267	H196R	unknown	Het
Bpifb9b	A	C	2: 154,311,314	D100A	probably damaging	Het
Cant1	G	C	11: 118,408,783	P247A	probably damaging	Het
Capza3	A	T	6: 140,042,568	I298L	possibly damaging	Het
Celsr3	T	C	9: 108,843,182	V2551A	probably benign	Het
Ces4a	G	A	8: 105,138,097	G69S	probably damaging	Het
Cmtr2	T	C	8: 110,221,919	L287P	probably damaging	Het
Crebbp	G	A	16: 4,179,449	T257I	probably benign	Het
Crispld2	G	A	8: 120,015,296	V128M	probably damaging	Het
Crnkl1	G	A	2: 145,928,200	A241V	probably damaging	Het
Dmd	T	A	X: 83,830,517	I1342N	probably damaging	Het
Dnah10	A	G	5: 124,782,268	T2043A	probably benign	Het
Dscaml1	C	T	9: 45,670,224	T447I	probably benign	Het
Eif2ak3	A	G	6: 70,892,554	T742A	probably benign	Het
Farp1	A	G	14: 121,255,482	T499A	probably benign	Het
Fcgr1	G	A	3: 96,287,070	T167I	probably damaging	Het
Fgd5	C	A	6: 92,024,630	H935Q	probably benign	Het
Fhl4	A	T	10: 85,098,307	D203E	probably benign	Het
Gapt	T	G	13: 110,353,806	T108P	probably damaging	Het
Gm12800	T	C	4: 101,910,115	I187T	probably benign	Het
Gm13762	G	A	2: 88,973,880	Q4*	probably null	Het
Gpt2	A	G	8: 85,521,384	T419A	probably benign	Het
Gucy2c	A	G	6: 136,704,293	V907A	probably damaging	Het
Hmbs	T	C	9: 44,337,444	D211G	probably damaging	Het
Irx5	A	G	8: 92,359,810	N174D	probably damaging	Het
Itfg1	A	G	8: 85,831,231	V170A	probably benign	Het
Itga2b	T	A	11: 102,458,183	T732S	probably benign	Het
Klhl3	A	G	13: 58,011,208	Y546H	probably damaging	Het
Lama5	G	A	2: 180,190,747	H1670Y	possibly damaging	Het
Mlst8	AT	ATT	17: 24,478,013		probably null	Het
Nbeal1	T	C	1: 60,234,840	V409A	probably damaging	Het
Nlgn1	T	A	3: 25,436,300	D421V	probably damaging	Het
Nlrp10	T	C	7: 108,925,118	D385G	probably benign	Het
Nr2e3	T	A	9: 59,949,796	D30V	probably benign	Het
Nyap1	A	G	5: 137,735,032	S580P	probably benign	Het
Olfr1259	A	G	2: 89,943,923	L64P	probably damaging	Het
Olfr1509	T	A	14: 52,450,887	V158E	probably benign	Het
Pex1	A	G	5: 3,630,038	H952R	probably damaging	Het
Plin4	T	A	17: 56,103,849	I1061F	possibly damaging	Het
Pnkp	C	A	7: 44,862,602	R517S	probably benign	Het
Polr2e	T	A	10: 80,038,554	E39D	probably benign	Het
Prokr1	T	C	6: 87,588,593	Y90C	probably benign	Het
Ptprm	A	T	17: 66,940,580	S587T	probably benign	Het
Rere	G	A	4: 150,616,837	E1225K	probably damaging	Het
Rsl24d1	G	T	9: 73,114,614		probably benign	Het
Selp	A	G	1: 164,126,512	N127S	probably benign	Het
Slc22a18	C	T	7: 143,476,247	T17I	probably damaging	Het
Smad2	A	G	18: 76,262,705	T72A	possibly damaging	Het
Snx29	G	A	16: 11,399,783	W149*	probably null	Het
Stk31	G	T	6: 49,446,478		probably null	Het
Sult1e1	T	G	5: 87,587,671		probably null	Het
Syngap1	G	A	17: 26,944,687	R41H	possibly damaging	Het
Tbc1d17	T	A	7: 44,841,398		probably null	Het
Tie1	A	T	4: 118,472,790		probably null	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Usp47	T	A	7: 112,092,876	D848E	probably benign	Het
Vmn1r72	A	G	7: 11,669,804	L239P	probably damaging	Het
Vmn2r124	T	C	17: 18,062,860	I272T	probably benign	Het
Vwa1	C	T	4: 155,773,114	V76M	probably damaging	Het
Xrn1	G	T	9: 96,024,221		probably null	Het
Zfp667	G	T	7: 6,305,088	V252F	probably benign	Het
Zranb3	A	T	1: 127,999,399	V343D	probably damaging	Het

Other mutations in Cdh10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00475:Cdh10	APN	15	19013263	missense	probably damaging	1.00
IGL00540:Cdh10	APN	15	18963995	missense	probably damaging	1.00
IGL00769:Cdh10	APN	15	18985099	missense	possibly damaging	0.63
IGL00837:Cdh10	APN	15	19013404	missense	probably benign
IGL01307:Cdh10	APN	15	18899800	missense	probably benign	0.34
IGL01509:Cdh10	APN	15	18986798	missense	possibly damaging	0.70
IGL01561:Cdh10	APN	15	18999926	missense	possibly damaging	0.52
IGL01743:Cdh10	APN	15	18986769	missense	probably benign	0.06
IGL02065:Cdh10	APN	15	19013256	missense	probably damaging	1.00
IGL02083:Cdh10	APN	15	18986889	missense	possibly damaging	0.79
IGL02238:Cdh10	APN	15	19013519	missense	probably damaging	1.00
IGL02838:Cdh10	APN	15	18899763	missense	probably damaging	1.00
IGL03397:Cdh10	APN	15	18964028	missense	probably damaging	1.00
R0423:Cdh10	UTSW	15	18986879	missense	probably benign	0.00
R0828:Cdh10	UTSW	15	18986751	missense	possibly damaging	0.52
R1488:Cdh10	UTSW	15	19013263	missense	probably damaging	1.00
R1563:Cdh10	UTSW	15	18986767	nonsense	probably null
R1674:Cdh10	UTSW	15	18985066	missense	probably benign	0.11
R1674:Cdh10	UTSW	15	19013330	missense	probably damaging	1.00
R1737:Cdh10	UTSW	15	18964063	missense	probably damaging	1.00
R1819:Cdh10	UTSW	15	18991965	nonsense	probably null
R1865:Cdh10	UTSW	15	18899604	missense	probably benign	0.01
R2439:Cdh10	UTSW	15	19013398	missense	probably damaging	1.00
R3944:Cdh10	UTSW	15	18964249	missense	probably benign
R4320:Cdh10	UTSW	15	18985165	missense	probably benign	0.03
R4330:Cdh10	UTSW	15	18999959	missense	probably damaging	1.00
R4765:Cdh10	UTSW	15	19013278	missense	probably damaging	0.98
R4831:Cdh10	UTSW	15	19013578	missense	probably benign	0.10
R5102:Cdh10	UTSW	15	18986885	missense	probably benign	0.05
R5166:Cdh10	UTSW	15	19013360	missense	probably damaging	0.99
R5217:Cdh10	UTSW	15	18966022	missense	probably damaging	0.98
R5843:Cdh10	UTSW	15	18985200	missense	possibly damaging	0.68
R5902:Cdh10	UTSW	15	18985255	critical splice donor site	probably null
R6263:Cdh10	UTSW	15	18964068	missense	possibly damaging	0.86
R6636:Cdh10	UTSW	15	18985173	missense	probably damaging	0.99
R6770:Cdh10	UTSW	15	18985222	missense	probably benign	0.09
R7046:Cdh10	UTSW	15	19013201	missense	probably damaging	0.98
R7362:Cdh10	UTSW	15	18899694	missense	probably benign
R7491:Cdh10	UTSW	15	19013359	missense	probably damaging	0.99
R7921:Cdh10	UTSW	15	18991956	missense	probably damaging	1.00
R7937:Cdh10	UTSW	15	18964249	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGTACCACACAGTGAGATGACC -3'
(R):5'- GGAGTAGTTAAGATTCAGAGTCCCC -3'

Sequencing Primer
(F):5'- CACAGTGAGATGACCCAGCATTTG -3'
(R):5'- CCCCAACTCTGTAAGAGA -3'

Posted On

2014-08-01