Mutagenetix > Incidental Mutation

Incidental Mutation 'R4765:Cdh10'

366087

Institutional Source

Beutler Lab

Gene Symbol

Cdh10

Ensembl Gene

ENSMUSG00000022321

Gene Name

cadherin 10

Synonyms

C030011H18Rik, A830016G23Rik, C030003B10Rik, T2-cadherin

MMRRC Submission

042406-MU

Accession Numbers

Essential gene?

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

Stock #

R4765 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18819033-19014322 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 19013364 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 655 (V655L)

Ref Sequence

ENSEMBL: ENSMUSP00000128782 (fasta)

Gene Model

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

AlphaFold

P70408

Predicted Effect

probably damaging
Transcript: ENSMUST00000040562
AA Change: V655L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000042199
Gene: ENSMUSG00000022321
AA Change: V655L

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 damaging
Transcript: ENSMUST00000166873
AA Change: V655L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128782
Gene: ENSMUSG00000022321
AA Change: V655L

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	T	11: 58,771,987 (GRCm39)	R490C	probably benign	Het
Abcb11	A	T	2: 69,076,211 (GRCm39)	F1166I	probably damaging	Het
Acta2	T	C	19: 34,223,552 (GRCm39)	D181G	probably damaging	Het
Adgrv1	A	G	13: 81,255,038 (GRCm39)	I6195T	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ankfy1	T	G	11: 72,603,117 (GRCm39)	S49A	probably benign	Het
Azi2	A	T	9: 117,890,539 (GRCm39)		probably benign	Het
Bend3	A	T	10: 43,386,746 (GRCm39)	S380C	probably damaging	Het
Bicc1	T	C	10: 70,776,423 (GRCm39)	T759A	probably damaging	Het
Cdkn2aip	C	A	8: 48,166,582 (GRCm39)	W75L	probably damaging	Het
Cenpj	G	A	14: 56,787,002 (GRCm39)	R192*	probably null	Het
Cflar	T	C	1: 58,771,480 (GRCm39)	S203P	probably damaging	Het
Chd6	A	T	2: 160,808,164 (GRCm39)	C1683*	probably null	Het
Cpsf2	A	G	12: 101,963,699 (GRCm39)	Y476C	probably damaging	Het
Cyp4a12a	A	G	4: 115,183,388 (GRCm39)	D169G	possibly damaging	Het
D430041D05Rik	T	A	2: 104,044,441 (GRCm39)	R1536S	probably damaging	Het
Depdc5	A	C	5: 33,094,979 (GRCm39)	D752A	probably damaging	Het
Dnah9	C	T	11: 65,818,552 (GRCm39)	G78D	probably damaging	Het
Drc1	G	T	5: 30,506,075 (GRCm39)	Q249H	probably benign	Het
Drg1	T	C	11: 3,200,280 (GRCm39)	I364V	probably benign	Het
Dtymk	T	C	1: 93,720,631 (GRCm39)	H130R	probably damaging	Het
Elac2	T	G	11: 64,883,048 (GRCm39)	F140V	probably damaging	Het
Enpp2	A	G	15: 54,739,068 (GRCm39)	V353A	possibly damaging	Het
Fat2	T	C	11: 55,172,013 (GRCm39)	D2900G	probably damaging	Het
Fermt2	G	T	14: 45,699,693 (GRCm39)	T536K	probably benign	Het
Foxj2	G	T	6: 122,810,230 (GRCm39)	Q196H	probably benign	Het
Gadl1	A	G	9: 115,795,381 (GRCm39)	K328R	probably null	Het
Gata6	A	G	18: 11,054,394 (GRCm39)	T108A	probably benign	Het
Gm16503	G	T	4: 147,625,554 (GRCm39)	G16V	unknown	Het
Gpr37	T	G	6: 25,669,107 (GRCm39)	E579A	probably damaging	Het
Gps2	T	C	11: 69,807,187 (GRCm39)		probably benign	Het
Hcn4	A	T	9: 58,765,260 (GRCm39)	I581F	unknown	Het
Hfm1	T	A	5: 106,990,405 (GRCm39)	Y1335F	probably benign	Het
Igsf10	A	T	3: 59,237,126 (GRCm39)	S1018R	probably benign	Het
Katnal2	C	T	18: 77,065,239 (GRCm39)		probably null	Het
Kctd8	T	C	5: 69,498,191 (GRCm39)	K152E	possibly damaging	Het
Lrp8	T	C	4: 107,711,592 (GRCm39)	C459R	probably damaging	Het
Ly6l	A	T	15: 75,321,543 (GRCm39)	I48L	probably benign	Het
Megf10	A	T	18: 57,420,866 (GRCm39)	I835F	possibly damaging	Het
Mei1	A	T	15: 81,996,686 (GRCm39)	I946F	possibly damaging	Het
Mrtfb	C	A	16: 13,230,458 (GRCm39)	P1048T	probably damaging	Het
Myo7b	G	C	18: 32,094,953 (GRCm39)	L1881V	probably benign	Het
Nfkbiz	T	C	16: 55,639,387 (GRCm39)		probably null	Het
Or4b13	T	A	2: 90,082,807 (GRCm39)	Y175F	probably damaging	Het
Or5b24	T	C	19: 12,912,440 (GRCm39)	C113R	possibly damaging	Het
Pcdhgc5	T	C	18: 37,955,122 (GRCm39)	S799P	probably benign	Het
Plk4	A	G	3: 40,756,457 (GRCm39)	E97G	probably damaging	Het
Pole2	A	T	12: 69,268,826 (GRCm39)	H114Q	possibly damaging	Het
Rad9a	C	A	19: 4,250,488 (GRCm39)	V109L	probably benign	Het
Scn8a	A	G	15: 100,938,352 (GRCm39)	H1917R	probably benign	Het
Scyl2	C	T	10: 89,495,160 (GRCm39)	V304I	probably damaging	Het
Serpina3f	G	C	12: 104,185,690 (GRCm39)	E298D	probably benign	Het
Shoc2	A	G	19: 53,976,734 (GRCm39)	E208G	probably benign	Het
Sin3a	G	A	9: 57,004,087 (GRCm39)	V280I	probably benign	Het
Slc26a2	A	T	18: 61,332,558 (GRCm39)	I291N	probably damaging	Het
Slc4a7	T	G	14: 14,762,414 (GRCm38)	D600E	probably damaging	Het
Slc5a6	A	T	5: 31,195,427 (GRCm39)	F430L	possibly damaging	Het
Snx19	A	C	9: 30,351,453 (GRCm39)	Q840H	probably damaging	Het
Spast	C	A	17: 74,676,211 (GRCm39)	D340E	probably damaging	Het
Sprr4	G	A	3: 92,407,716 (GRCm39)	P29S	unknown	Het
Stk11ip	T	G	1: 75,503,799 (GRCm39)	L239R	probably damaging	Het
Thoc6	A	G	17: 23,889,862 (GRCm39)	L20P	probably damaging	Het
Tnfrsf8	A	T	4: 145,023,447 (GRCm39)	S129T	probably benign	Het
Tnrc6c	A	G	11: 117,633,753 (GRCm39)	I1284V	probably benign	Het
Ttn	T	C	2: 76,602,851 (GRCm39)	Y16711C	probably damaging	Het
Ttn	A	G	2: 76,541,331 (GRCm39)	L33885P	probably damaging	Het
Ubn2	T	A	6: 38,456,075 (GRCm39)	C501S	probably damaging	Het
Ubr1	A	T	2: 120,793,923 (GRCm39)	L87*	probably null	Het
Uhmk1	T	C	1: 170,027,470 (GRCm39)	Y320C	probably damaging	Het
Vldlr	T	C	19: 27,217,947 (GRCm39)	V465A	probably damaging	Het
Vmn1r1	C	T	1: 181,985,471 (GRCm39)	A65T	probably benign	Het
Vmn2r25	C	T	6: 123,800,182 (GRCm39)	C720Y	probably damaging	Het
Xrra1	T	C	7: 99,555,775 (GRCm39)	Y381H	probably benign	Het
Zfhx4	T	C	3: 5,465,212 (GRCm39)	L1790P	probably benign	Het
Zscan4d	T	A	7: 10,896,594 (GRCm39)	M259L	probably benign	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
R4831:Cdh10	UTSW	15	19,013,664 (GRCm39)	missense	probably benign	0.10
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'- CAAATTCCGGTTTCCCATGCAAG -3'
(R):5'- ATGCTCTTTGAGTCGCTCG -3'

Sequencing Primer
(F):5'- CGGTTTCCCATGCAAGGTATAAAC -3'
(R):5'- GAGTCGCTCGTTAATGAAATCCCG -3'

Posted On

2015-12-21