Mutagenetix > Incidental Mutation

Incidental Mutation 'R4831:Cdh10'

372845

Institutional Source

Beutler Lab

Gene Symbol

Cdh10

Ensembl Gene

ENSMUSG00000022321

Gene Name

cadherin 10

Synonyms

C030011H18Rik, A830016G23Rik, C030003B10Rik, T2-cadherin

MMRRC Submission

042447-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R4831 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18819033-19014322 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19013664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 755 (T755S)

Ref Sequence

ENSEMBL: ENSMUSP00000128782 (fasta)

Gene Model

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

AlphaFold

P70408

Predicted Effect

probably benign
Transcript: ENSMUST00000040562
AA Change: T755S

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000042199
Gene: ENSMUSG00000022321
AA Change: T755S

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 benign
Transcript: ENSMUST00000166873
AA Change: T755S

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000128782
Gene: ENSMUSG00000022321
AA Change: T755S

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: ENSMUST00000176409

Meta Mutation Damage Score

0.1660

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

99% (96/97)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	C	T	11: 69,791,403 (GRCm39)	V59I	possibly damaging	Het
4930544M13Rik	T	G	13: 114,744,183 (GRCm39)		noncoding transcript	Het
Abca13	A	T	11: 9,492,077 (GRCm39)	K4373*	probably null	Het
Abtb2	A	T	2: 103,513,820 (GRCm39)	T410S	probably benign	Het
Adamts13	T	C	2: 26,873,142 (GRCm39)		probably null	Het
Ahnak2	C	G	12: 112,742,183 (GRCm39)	D630H	probably damaging	Het
Aox3	T	C	1: 58,191,725 (GRCm39)	S426P	probably damaging	Het
Atxn10	C	T	15: 85,271,260 (GRCm39)	S266F	probably benign	Het
B4galnt4	G	T	7: 140,647,634 (GRCm39)	M407I	probably damaging	Het
B4galnt4	T	A	7: 140,644,470 (GRCm39)		probably null	Het
Bclaf1	T	A	10: 20,197,872 (GRCm39)		probably benign	Het
C4b	C	T	17: 34,955,864 (GRCm39)		probably null	Het
Cdc42bpg	T	C	19: 6,361,365 (GRCm39)	F297S	probably damaging	Het
Ceacam12	T	A	7: 17,811,305 (GRCm39)		probably null	Het
Cfap65	C	A	1: 74,956,454 (GRCm39)	V1042F	possibly damaging	Het
Cfap77	T	C	2: 28,875,844 (GRCm39)	I89V	probably benign	Het
Cfh	T	C	1: 140,014,125 (GRCm39)	D688G	probably benign	Het
Clip1	C	G	5: 123,721,664 (GRCm39)	A1182P	probably damaging	Het
Cyp2b10	T	A	7: 25,614,921 (GRCm39)	Y309*	probably null	Het
Dcaf5	T	C	12: 80,385,858 (GRCm39)	E756G	probably benign	Het
Dctn1	A	T	6: 83,176,753 (GRCm39)	Q1231L	possibly damaging	Het
Dennd1c	T	A	17: 57,373,428 (GRCm39)	R682*	probably null	Het
Eml6	C	A	11: 29,727,052 (GRCm39)	E1319*	probably null	Het
Erap1	T	C	13: 74,838,766 (GRCm39)	I904T	probably damaging	Het
Eri1	A	T	8: 35,943,673 (GRCm39)	I207N	possibly damaging	Het
Farp1	G	A	14: 121,514,469 (GRCm39)	A933T	probably damaging	Het
Fcna	T	A	2: 25,515,353 (GRCm39)	Q210L	probably benign	Het
Fhad1	A	T	4: 141,643,378 (GRCm39)		probably null	Het
Fut8	T	G	12: 77,440,603 (GRCm39)	Y197D	probably damaging	Het
Garem1	G	A	18: 21,262,825 (GRCm39)	T663I	probably benign	Het
Gfm2	T	C	13: 97,301,546 (GRCm39)	S450P	probably damaging	Het
Gstk1	T	G	6: 42,222,938 (GRCm39)		probably benign	Het
Helz2	C	T	2: 180,879,210 (GRCm39)	A803T	probably damaging	Het
Igsf9	T	A	1: 172,319,455 (GRCm39)	I280N	probably damaging	Het
Klhl10	A	G	11: 100,336,669 (GRCm39)	K219E	probably benign	Het
L3mbtl4	T	A	17: 68,768,558 (GRCm39)	V222D	probably damaging	Het
Lrrc9	A	T	12: 72,546,453 (GRCm39)	N1214Y	probably damaging	Het
Ltbp2	C	T	12: 84,840,414 (GRCm39)	E1051K	possibly damaging	Het
Mettl17	T	C	14: 52,122,440 (GRCm39)	F13S	probably benign	Het
Mettl24	C	A	10: 40,559,413 (GRCm39)	A21D	possibly damaging	Het
Mfsd6l	T	A	11: 68,447,331 (GRCm39)	C61S	probably benign	Het
Mob4	T	G	1: 55,191,899 (GRCm39)	D204E	probably benign	Het
Mtus1	C	G	8: 41,536,189 (GRCm39)	R509T	probably damaging	Het
Nlrp4a	T	A	7: 26,149,844 (GRCm39)	F484I	possibly damaging	Het
Nsrp1	T	C	11: 76,941,444 (GRCm39)	N88S	probably benign	Het
Odad2	G	T	18: 7,222,564 (GRCm39)	H568Q	possibly damaging	Het
Or10d5	C	T	9: 39,861,408 (GRCm39)	V220I	probably benign	Het
Or2g25	T	A	17: 37,970,969 (GRCm39)	H85L	probably benign	Het
Or51b6b	T	C	7: 103,309,678 (GRCm39)	T260A	probably benign	Het
Or6c2	T	A	10: 129,362,449 (GRCm39)	Y118N	probably damaging	Het
Parg	A	G	14: 31,924,408 (GRCm39)	N69S	probably benign	Het
Pcdh9	A	C	14: 94,125,377 (GRCm39)	N264K	probably damaging	Het
Pcdhb22	G	T	18: 37,653,615 (GRCm39)	L694F	probably damaging	Het
Pcnt	T	C	10: 76,248,335 (GRCm39)	E928G	probably damaging	Het
Pdzk1	G	A	3: 96,775,751 (GRCm39)	G373D	probably benign	Het
Pea15a	A	G	1: 172,026,740 (GRCm39)	I89T	probably damaging	Het
Phc1	T	A	6: 122,313,964 (GRCm39)		probably benign	Het
Pikfyve	T	A	1: 65,235,900 (GRCm39)	C191S	probably damaging	Het
Pitpnm1	T	A	19: 4,158,130 (GRCm39)	D573E	probably damaging	Het
Pld5	A	G	1: 176,102,450 (GRCm39)		probably benign	Het
Plscr2	A	T	9: 92,173,130 (GRCm39)	N89I	possibly damaging	Het
Pm20d2	A	C	4: 33,179,293 (GRCm39)	N315K	probably damaging	Het
Pnpla1	T	A	17: 29,097,518 (GRCm39)	M228K	probably benign	Het
Prim2	T	C	1: 33,709,217 (GRCm39)		probably benign	Het
Ralgapa2	A	G	2: 146,246,987 (GRCm39)		probably benign	Het
Rgs22	G	T	15: 36,050,294 (GRCm39)	H719N	probably benign	Het
Ror2	C	T	13: 53,272,880 (GRCm39)	D250N	probably damaging	Het
Saal1	A	G	7: 46,349,071 (GRCm39)	V281A	probably benign	Het
Selenof	A	T	3: 144,296,411 (GRCm39)	K94N	probably damaging	Het
Slamf9	T	A	1: 172,304,831 (GRCm39)	C148*	probably null	Het
Slc4a7	T	C	14: 14,772,699 (GRCm38)		probably null	Het
Slco1a5	A	G	6: 142,180,431 (GRCm39)	I657T	probably benign	Het
St3gal2	A	T	8: 111,684,480 (GRCm39)	H46L	probably benign	Het
Sucnr1	T	G	3: 59,994,069 (GRCm39)	M199R	probably damaging	Het
Taok1	T	A	11: 77,444,500 (GRCm39)	E525V	probably null	Het
Tbc1d10c	T	A	19: 4,235,445 (GRCm39)	E298V	probably damaging	Het
Tll2	T	A	19: 41,118,951 (GRCm39)	H259L	probably damaging	Het
Tpcn1	A	T	5: 120,691,554 (GRCm39)	F300Y	probably damaging	Het
Uba6	T	A	5: 86,279,197 (GRCm39)	I642L	probably benign	Het
Ubqln5	T	A	7: 103,778,829 (GRCm39)		probably benign	Het
Vmn1r27	A	T	6: 58,192,827 (GRCm39)	L9Q	possibly damaging	Het
Vmn2r100	C	T	17: 19,741,672 (GRCm39)	T128I	probably benign	Het
Vmn2r109	C	T	17: 20,761,494 (GRCm39)	G621D	probably benign	Het
Vmn2r49	C	T	7: 9,720,352 (GRCm39)	D380N	probably benign	Het
Vps13a	C	T	19: 16,655,356 (GRCm39)	V1891I	probably benign	Het
Wbp2	G	T	11: 115,971,463 (GRCm39)	Y147*	probably null	Het
Wdr46	T	A	17: 34,160,810 (GRCm39)	N191K	probably benign	Het
Wdr46	T	C	17: 34,168,373 (GRCm39)		probably benign	Het
Wnt2	A	C	6: 18,023,285 (GRCm39)	F121L	probably benign	Het
Xpnpep1	T	A	19: 53,003,053 (GRCm39)	D100V	probably benign	Het
Xpo4	T	C	14: 57,827,559 (GRCm39)	Y879C	probably damaging	Het
Zswim4	A	T	8: 84,938,948 (GRCm39)	V978D	probably damaging	Het

Other mutations in Cdh10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00475:Cdh10	APN	15	19,013,349 (GRCm39)	missense	probably damaging	1.00
IGL00540:Cdh10	APN	15	18,964,081 (GRCm39)	missense	probably damaging	1.00
IGL00769:Cdh10	APN	15	18,985,185 (GRCm39)	missense	possibly damaging	0.63
IGL00837:Cdh10	APN	15	19,013,490 (GRCm39)	missense	probably benign
IGL01307:Cdh10	APN	15	18,899,886 (GRCm39)	missense	probably benign	0.34
IGL01509:Cdh10	APN	15	18,986,884 (GRCm39)	missense	possibly damaging	0.70
IGL01561:Cdh10	APN	15	19,000,012 (GRCm39)	missense	possibly damaging	0.52
IGL01743:Cdh10	APN	15	18,986,855 (GRCm39)	missense	probably benign	0.06
IGL02065:Cdh10	APN	15	19,013,342 (GRCm39)	missense	probably damaging	1.00
IGL02083:Cdh10	APN	15	18,986,975 (GRCm39)	missense	possibly damaging	0.79
IGL02238:Cdh10	APN	15	19,013,605 (GRCm39)	missense	probably damaging	1.00
IGL02838:Cdh10	APN	15	18,899,849 (GRCm39)	missense	probably damaging	1.00
IGL03397:Cdh10	APN	15	18,964,114 (GRCm39)	missense	probably damaging	1.00
R0423:Cdh10	UTSW	15	18,986,965 (GRCm39)	missense	probably benign	0.00
R0828:Cdh10	UTSW	15	18,986,837 (GRCm39)	missense	possibly damaging	0.52
R1488:Cdh10	UTSW	15	19,013,349 (GRCm39)	missense	probably damaging	1.00
R1563:Cdh10	UTSW	15	18,986,853 (GRCm39)	nonsense	probably null
R1674:Cdh10	UTSW	15	19,013,416 (GRCm39)	missense	probably damaging	1.00
R1674:Cdh10	UTSW	15	18,985,152 (GRCm39)	missense	probably benign	0.11
R1737:Cdh10	UTSW	15	18,964,149 (GRCm39)	missense	probably damaging	1.00
R1819:Cdh10	UTSW	15	18,992,051 (GRCm39)	nonsense	probably null
R1865:Cdh10	UTSW	15	18,899,690 (GRCm39)	missense	probably benign	0.01
R1953:Cdh10	UTSW	15	18,966,997 (GRCm39)	critical splice donor site	probably null
R2439:Cdh10	UTSW	15	19,013,484 (GRCm39)	missense	probably damaging	1.00
R3944:Cdh10	UTSW	15	18,964,335 (GRCm39)	missense	probably benign
R4320:Cdh10	UTSW	15	18,985,251 (GRCm39)	missense	probably benign	0.03
R4330:Cdh10	UTSW	15	19,000,045 (GRCm39)	missense	probably damaging	1.00
R4765:Cdh10	UTSW	15	19,013,364 (GRCm39)	missense	probably damaging	0.98
R5102:Cdh10	UTSW	15	18,986,971 (GRCm39)	missense	probably benign	0.05
R5166:Cdh10	UTSW	15	19,013,446 (GRCm39)	missense	probably damaging	0.99
R5217:Cdh10	UTSW	15	18,966,108 (GRCm39)	missense	probably damaging	0.98
R5843:Cdh10	UTSW	15	18,985,286 (GRCm39)	missense	possibly damaging	0.68
R5902:Cdh10	UTSW	15	18,985,341 (GRCm39)	critical splice donor site	probably null
R6263:Cdh10	UTSW	15	18,964,154 (GRCm39)	missense	possibly damaging	0.86
R6636:Cdh10	UTSW	15	18,985,259 (GRCm39)	missense	probably damaging	0.99
R6770:Cdh10	UTSW	15	18,985,308 (GRCm39)	missense	probably benign	0.09
R7046:Cdh10	UTSW	15	19,013,287 (GRCm39)	missense	probably damaging	0.98
R7362:Cdh10	UTSW	15	18,899,780 (GRCm39)	missense	probably benign
R7491:Cdh10	UTSW	15	19,013,445 (GRCm39)	missense	probably damaging	0.99
R7921:Cdh10	UTSW	15	18,992,042 (GRCm39)	missense	probably damaging	1.00
R7937:Cdh10	UTSW	15	18,964,335 (GRCm39)	missense	probably benign
R8685:Cdh10	UTSW	15	18,899,851 (GRCm39)	missense	possibly damaging	0.89
R8843:Cdh10	UTSW	15	19,013,487 (GRCm39)	missense	possibly damaging	0.83
R8907:Cdh10	UTSW	15	19,013,521 (GRCm39)	missense	probably damaging	1.00
R9121:Cdh10	UTSW	15	19,011,074 (GRCm39)	missense	probably damaging	1.00
R9264:Cdh10	UTSW	15	18,964,081 (GRCm39)	missense	probably damaging	1.00
R9449:Cdh10	UTSW	15	19,013,521 (GRCm39)	missense	possibly damaging	0.89
R9497:Cdh10	UTSW	15	18,964,267 (GRCm39)	missense	probably damaging	0.98
R9584:Cdh10	UTSW	15	18,992,095 (GRCm39)	missense	probably benign	0.07
R9638:Cdh10	UTSW	15	18,964,301 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGGAACCCTGCAGCTATC -3'
(R):5'- TGTGAAGTGGAGACAGTGTC -3'

Sequencing Primer
(F):5'- AGCTCCGGCGAGATATAATTCCTG -3'
(R):5'- GACAGTGTCCGCAAAGTTAAC -3'

Posted On

2016-03-01