Mutagenetix > Incidental Mutation

Incidental Mutation 'R8843:Cdh10'

674559

Institutional Source

Beutler Lab

Gene Symbol

Cdh10

Ensembl Gene

ENSMUSG00000022321

Gene Name

cadherin 10

Synonyms

C030011H18Rik, A830016G23Rik, C030003B10Rik, T2-cadherin

MMRRC Submission

068670-MU

Accession Numbers

Essential gene?

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

Stock #

R8843 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18819033-19014322 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 19013487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 696 (F696I)

Ref Sequence

ENSEMBL: ENSMUSP00000042199 (fasta)

Gene Model

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

AlphaFold

P70408

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040562
AA Change: F696I

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000042199
Gene: ENSMUSG00000022321
AA Change: F696I

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

possibly damaging
Transcript: ENSMUST00000166873
AA Change: F696I

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000128782
Gene: ENSMUSG00000022321
AA Change: F696I

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

Meta Mutation Damage Score

0.0771

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (73/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	C	G	9: 21,440,331 (GRCm39)	Q106E	probably benign	Het
Abi2	A	G	1: 60,492,888 (GRCm39)	M387V	probably null	Het
Adra2c	A	T	5: 35,437,707 (GRCm39)	N160Y	probably damaging	Het
Ager	G	A	17: 34,819,716 (GRCm39)	R383H	probably benign	Het
Arhgef28	C	T	13: 98,130,557 (GRCm39)	R427H	probably benign	Het
Atl1	T	A	12: 69,972,922 (GRCm39)	S81T	probably damaging	Het
Ccdc80	T	A	16: 44,947,470 (GRCm39)		probably benign	Het
Cdk2ap2	T	C	19: 4,147,429 (GRCm39)	S2P	unknown	Het
Cela1	G	A	15: 100,580,821 (GRCm39)	T145I	probably benign	Het
Celsr2	A	T	3: 108,303,443 (GRCm39)		probably benign	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 105,036,334 (GRCm39)		probably null	Het
Col22a1	A	G	15: 71,878,503 (GRCm39)	I218T	probably damaging	Het
Copb1	T	C	7: 113,820,935 (GRCm39)	I785V	possibly damaging	Het
Dnajc16	A	T	4: 141,492,002 (GRCm39)	V607E	possibly damaging	Het
Dnali1	A	T	4: 124,957,414 (GRCm39)	L110Q	probably damaging	Het
Epn1	A	G	7: 5,096,375 (GRCm39)	E223G	probably benign	Het
Erbb3	A	G	10: 128,414,325 (GRCm39)	L473P	possibly damaging	Het
Fhip1a	A	G	3: 85,568,318 (GRCm39)	I1067T	possibly damaging	Het
Gadl1	T	A	9: 115,835,569 (GRCm39)	D332E	probably benign	Het
Gm10801	TC	TCGAC	2: 98,494,151 (GRCm39)		probably benign	Het
Heg1	A	G	16: 33,570,863 (GRCm39)	S1188G	probably null	Het
Hipk3	G	A	2: 104,268,242 (GRCm39)	A575V	probably benign	Het
Htt	T	A	5: 35,046,809 (GRCm39)	I2375N	possibly damaging	Het
Klhl24	A	T	16: 19,938,980 (GRCm39)	K512*	probably null	Het
Krtdap	A	T	7: 30,488,952 (GRCm39)	Y40F	probably damaging	Het
Lhx1	A	T	11: 84,410,455 (GRCm39)	S381T	probably benign	Het
Lnpep	G	A	17: 17,773,203 (GRCm39)	P655L	probably damaging	Het
Map6d1	A	G	16: 20,055,386 (GRCm39)	V150A	probably benign	Het
Marchf10	A	G	11: 105,292,802 (GRCm39)	S202P	possibly damaging	Het
Med1	A	C	11: 98,080,102 (GRCm39)	L13R	possibly damaging	Het
Mxi1	G	A	19: 53,360,126 (GRCm39)	G283S	probably damaging	Het
Myh7	T	G	14: 55,212,752 (GRCm39)	D1431A	probably damaging	Het
Myo3b	G	T	2: 70,088,325 (GRCm39)	G863W	probably damaging	Het
Nat8f1	G	T	6: 85,887,907 (GRCm39)	Q18K	probably benign	Het
Ncaph	A	G	2: 126,950,529 (GRCm39)	V576A	probably benign	Het
Nfkbia	T	G	12: 55,539,196 (GRCm39)	D39A	possibly damaging	Het
Nrxn2	G	T	19: 6,555,057 (GRCm39)	G1179C	probably damaging	Het
Or12k8	A	C	2: 36,975,307 (GRCm39)	V151G	probably damaging	Het
P4ha1	A	G	10: 59,205,455 (GRCm39)	D495G	probably damaging	Het
Phf20	C	T	2: 156,144,843 (GRCm39)	A817V	probably benign	Het
Phlpp2	A	T	8: 110,652,431 (GRCm39)	I592F	probably benign	Het
Polq	A	G	16: 36,832,280 (GRCm39)	S7G	unknown	Het
Ppfia3	G	T	7: 44,997,941 (GRCm39)	Q729K	probably benign	Het
Prmt8	A	C	6: 127,706,462 (GRCm39)	F110V	probably damaging	Het
Psca	A	T	15: 74,587,868 (GRCm39)		probably null	Het
Pus7	G	T	5: 23,980,754 (GRCm39)	D165E	probably benign	Het
Raver2	A	G	4: 100,994,942 (GRCm39)	E555G	probably damaging	Het
Rb1cc1	G	A	1: 6,315,395 (GRCm39)	V457M	probably damaging	Het
Rbp3	A	G	14: 33,676,522 (GRCm39)	R157G	probably benign	Het
Rin3	T	G	12: 102,335,857 (GRCm39)	H589Q	probably benign	Het
Scart2	A	C	7: 139,828,913 (GRCm39)	T191P	possibly damaging	Het
Sgk2	T	A	2: 162,854,890 (GRCm39)	S334T	probably damaging	Het
Sh2d4b	T	C	14: 40,614,832 (GRCm39)	M31V	probably benign	Het
Slc23a3	G	A	1: 75,106,271 (GRCm39)	T316I	probably damaging	Het
Slc5a4b	C	A	10: 75,910,925 (GRCm39)	G304C	probably damaging	Het
Slc7a14	A	G	3: 31,311,759 (GRCm39)	V87A	probably damaging	Het
Slitrk3	A	T	3: 72,956,164 (GRCm39)	N869K	probably benign	Het
St8sia6	T	C	2: 13,661,896 (GRCm39)	R312G	possibly damaging	Het
Strip2	A	T	6: 29,923,968 (GRCm39)	E94V	probably benign	Het
Sycp2	T	C	2: 177,990,052 (GRCm39)	D1398G	probably damaging	Het
Syne1	C	A	10: 5,143,040 (GRCm39)	V114F	possibly damaging	Het
Syne1	T	C	10: 5,280,204 (GRCm39)	K1630E	probably benign	Het
Sytl2	A	G	7: 90,025,334 (GRCm39)	N441D	probably benign	Het
Thsd7a	A	G	6: 12,501,136 (GRCm39)	C424R		Het
Tln2	T	C	9: 67,302,827 (GRCm39)	D48G	probably damaging	Het
Treml1	A	G	17: 48,673,852 (GRCm39)	T288A	probably damaging	Het
Ttn	T	C	2: 76,596,113 (GRCm39)	I20267V	probably benign	Het
Ttn	A	T	2: 76,679,259 (GRCm39)	V10821D	unknown	Het
Vmn2r111	A	C	17: 22,767,011 (GRCm39)	S829A	probably benign	Het
Xcl1	T	A	1: 164,763,079 (GRCm39)		probably benign	Het
Zdhhc23	A	T	16: 43,794,227 (GRCm39)	V149E	probably damaging	Het
Zfp273	A	T	13: 67,970,387 (GRCm39)	I12F	possibly damaging	Het
Zfp874a	A	T	13: 67,590,764 (GRCm39)	C307S	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
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
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'- TTTGCAGCCCTCAAAAGGC -3'
(R):5'- CCCATTCTCGGAGGTAATCG -3'

Sequencing Primer
(F):5'- CAACGGAAGAAAGAGCCTCTGATTC -3'
(R):5'- CAGTGGTACCTGATTCTAAAGAGCTC -3'

Posted On

2021-07-15