Mutagenetix > Incidental Mutation

Incidental Mutation 'R1635:Cdh8'

173078

Institutional Source

Beutler Lab

Gene Symbol

Cdh8

Ensembl Gene

ENSMUSG00000036510

Gene Name

cadherin 8

Synonyms

cad8

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1635 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99751103-100143103 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 99757656 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 647 (H647Q)

Ref Sequence

ENSEMBL: ENSMUSP00000123619 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093249] [ENSMUST00000128860] [ENSMUST00000142129] [ENSMUST00000145601] [ENSMUST00000155527]

AlphaFold

P97291

Predicted Effect

probably damaging
Transcript: ENSMUST00000093249
AA Change: H647Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000090935
Gene: ENSMUSG00000036510
AA Change: H647Q

Domain	Start	End	E-Value	Type
low complexity region	12	24	N/A	INTRINSIC
CA	84	165	9.52e-17	SMART
CA	189	274	7.14e-30	SMART
CA	298	390	8.16e-16	SMART
CA	413	494	6.14e-20	SMART
CA	517	604	1.16e-11	SMART
transmembrane domain	622	644	N/A	INTRINSIC
Pfam:Cadherin_C	645	712	1.4e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128860
AA Change: H647Q

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000117326
Gene: ENSMUSG00000036510
AA Change: H647Q

Domain	Start	End	E-Value	Type
low complexity region	12	24	N/A	INTRINSIC
CA	84	165	9.52e-17	SMART
CA	189	274	7.14e-30	SMART
CA	298	390	8.16e-16	SMART
CA	413	494	6.14e-20	SMART
CA	517	604	1.16e-11	SMART
transmembrane domain	622	644	N/A	INTRINSIC
Pfam:Cadherin_C	647	792	7e-54	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000142129
AA Change: H647Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114507
Gene: ENSMUSG00000036510
AA Change: H647Q

Domain	Start	End	E-Value	Type
low complexity region	12	24	N/A	INTRINSIC
CA	84	165	9.52e-17	SMART
CA	189	274	7.14e-30	SMART
CA	298	390	8.16e-16	SMART
CA	413	494	6.14e-20	SMART
CA	517	604	1.16e-11	SMART
transmembrane domain	622	644	N/A	INTRINSIC
Pfam:Cadherin_C	645	702	5.3e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145601

SMART Domains

Protein: ENSMUSP00000122493
Gene: ENSMUSG00000036510

Domain	Start	End	E-Value	Type
low complexity region	12	24	N/A	INTRINSIC
CA	84	165	9.52e-17	SMART
CA	189	274	7.14e-30	SMART
CA	298	390	8.16e-16	SMART
CA	413	502	1.27e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000155527
AA Change: H647Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123619
Gene: ENSMUSG00000036510
AA Change: H647Q

Domain	Start	End	E-Value	Type
low complexity region	12	24	N/A	INTRINSIC
CA	84	165	9.52e-17	SMART
CA	189	274	7.14e-30	SMART
CA	298	390	8.16e-16	SMART
CA	413	494	6.14e-20	SMART
CA	517	604	1.16e-11	SMART
transmembrane domain	622	644	N/A	INTRINSIC
Pfam:Cadherin_C	645	745	1.8e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161244

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.9%

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. Mice lacking the encoded protein exhibit reduced behavioral responses to cold, but not thermal stimuli. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. Multiple distinct genes of the cadherin family, including this gene, are found on chromosome 8. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a null allele are viable, fertile and overtly normal but display abnormal CNS synaptic transmission, raise their tails in response to stress, and show reduced sensitivity to cutaneous cold stimuli. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted(4)

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	T	2: 25,334,868 (GRCm39)	I1947F	probably benign	Het
Adgrd1	G	T	5: 129,205,971 (GRCm39)	V182F	probably damaging	Het
Agmat	A	G	4: 141,474,380 (GRCm39)	D87G	probably damaging	Het
AI182371	T	C	2: 34,978,749 (GRCm39)		probably null	Het
Anapc1	G	T	2: 128,470,452 (GRCm39)	H1559Q	probably damaging	Het
Ankar	T	C	1: 72,689,297 (GRCm39)	Y1278C	probably damaging	Het
Arhgef2	A	T	3: 88,546,628 (GRCm39)		probably null	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Banp	A	T	8: 122,727,750 (GRCm39)	I130F	probably damaging	Het
C130050O18Rik	G	T	5: 139,400,248 (GRCm39)	R100S	probably benign	Het
Carmil3	A	G	14: 55,733,739 (GRCm39)	T374A	possibly damaging	Het
Cc2d2a	T	A	5: 43,879,812 (GRCm39)	W1076R	probably damaging	Het
Cdc34	T	G	10: 79,523,888 (GRCm39)	S235A	probably benign	Het
Cdk1	A	T	10: 69,174,377 (GRCm39)	L282Q	probably damaging	Het
Ceacam3	A	G	7: 16,893,902 (GRCm39)	D471G	probably damaging	Het
Ciao2b	A	T	8: 105,367,620 (GRCm39)	I108N	possibly damaging	Het
Cltc	A	T	11: 86,648,105 (GRCm39)	I4N	probably benign	Het
Cntfr	T	A	4: 41,658,816 (GRCm39)	E305V	probably damaging	Het
Cwh43	T	A	5: 73,591,653 (GRCm39)	I496N	probably damaging	Het
Cyp2f2	A	G	7: 26,829,149 (GRCm39)	N218S	probably benign	Het
D16Ertd472e	A	G	16: 78,343,392 (GRCm39)		probably null	Het
Dab2	A	G	15: 6,459,351 (GRCm39)	Q400R	possibly damaging	Het
Dapl1	A	T	2: 59,326,906 (GRCm39)	I51F	probably benign	Het
Drc7	G	A	8: 95,800,960 (GRCm39)		probably null	Het
Etl4	A	G	2: 20,811,219 (GRCm39)	T1101A	probably damaging	Het
Fam83c	C	A	2: 155,671,971 (GRCm39)	R488M	possibly damaging	Het
Fbxo42	A	G	4: 140,927,840 (GRCm39)	T707A	probably damaging	Het
Fcmr	A	T	1: 130,803,922 (GRCm39)		probably null	Het
Fer1l6	G	C	15: 58,518,930 (GRCm39)	K1687N	probably damaging	Het
Fgd4	G	A	16: 16,292,893 (GRCm39)	R275*	probably null	Het
Fxr2	G	A	11: 69,532,139 (GRCm39)	C87Y	possibly damaging	Het
Gja4	A	T	4: 127,206,472 (GRCm39)	I97N	probably damaging	Het
Gm136	A	G	4: 34,750,919 (GRCm39)		probably null	Het
Gm14496	A	G	2: 181,642,837 (GRCm39)	D836G	possibly damaging	Het
Grm3	T	A	5: 9,561,520 (GRCm39)	T777S	probably damaging	Het
Guca2b	A	G	4: 119,514,912 (GRCm39)	Y50H	probably damaging	Het
Herc2	C	T	7: 55,786,415 (GRCm39)	P1587S	probably benign	Het
Hmcn1	C	T	1: 150,545,309 (GRCm39)	S2766N	probably benign	Het
Idi2	T	A	13: 9,009,455 (GRCm39)	I224K	probably damaging	Het
Kmt2a	A	T	9: 44,735,666 (GRCm39)		probably benign	Het
Lonp2	A	T	8: 87,440,078 (GRCm39)	M693L	possibly damaging	Het
Megf8	G	T	7: 25,046,172 (GRCm39)	M1525I	possibly damaging	Het
Mgme1	T	C	2: 144,121,018 (GRCm39)	V276A	possibly damaging	Het
Mief2	G	T	11: 60,622,234 (GRCm39)	W268L	probably damaging	Het
Mpped1	C	T	15: 83,676,191 (GRCm39)		probably benign	Het
Mreg	T	C	1: 72,231,356 (GRCm39)	N34S	probably benign	Het
Myf6	T	C	10: 107,330,534 (GRCm39)	Y11C	probably damaging	Het
Myh9	C	A	15: 77,655,367 (GRCm39)	Q1196H	probably benign	Het
Myh9	A	T	15: 77,660,099 (GRCm39)	D56E	probably benign	Het
Myo5c	A	T	9: 75,184,357 (GRCm39)	R949S	probably benign	Het
Ncapg2	TAA	TA	12: 116,398,305 (GRCm39)		probably null	Het
Nfx1	T	A	4: 40,977,004 (GRCm39)	V226E	probably benign	Het
Nlrp10	T	A	7: 108,523,737 (GRCm39)	K581M	possibly damaging	Het
Nmd3	T	G	3: 69,647,317 (GRCm39)	I273S	probably benign	Het
Or4c3	A	T	2: 89,852,314 (GRCm39)	I32N	possibly damaging	Het
P4hb	T	C	11: 120,462,442 (GRCm39)	E88G	probably damaging	Het
Pcnx3	A	T	19: 5,715,773 (GRCm39)	H1444Q	probably benign	Het
Pdia4	A	T	6: 47,776,133 (GRCm39)	F421L	possibly damaging	Het
Picalm	T	A	7: 89,840,459 (GRCm39)	S538T	probably damaging	Het
Ppp2r2b	T	A	18: 43,192,275 (GRCm39)	I11F	probably benign	Het
Prb1c	A	G	6: 132,339,969 (GRCm39)		probably null	Het
Ptk7	C	T	17: 46,884,460 (GRCm39)	E757K	possibly damaging	Het
Rbm22	T	G	18: 60,694,340 (GRCm39)	C24W	probably damaging	Het
Rev3l	A	G	10: 39,682,658 (GRCm39)	D288G	probably damaging	Het
Rgs18	T	A	1: 144,629,791 (GRCm39)	H156L	probably benign	Het
Rnf213	A	G	11: 119,333,405 (GRCm39)	I2871M	probably damaging	Het
Rrm2b	A	T	15: 37,945,328 (GRCm39)	M137K	probably damaging	Het
Rrp12	A	T	19: 41,857,224 (GRCm39)	D1183E	probably benign	Het
Sacs	G	A	14: 61,441,277 (GRCm39)	V1108M	probably damaging	Het
Scube2	A	T	7: 109,442,421 (GRCm39)	D270E	possibly damaging	Het
Serpina3a	T	A	12: 104,082,737 (GRCm39)	F170Y	probably damaging	Het
Serpinb3b	T	C	1: 107,082,403 (GRCm39)	E287G	probably benign	Het
Slamf8	C	T	1: 172,412,186 (GRCm39)	V130M	probably damaging	Het
Slc5a3	T	C	16: 91,874,284 (GRCm39)	S114P	possibly damaging	Het
Sos1	T	A	17: 80,730,108 (GRCm39)		probably null	Het
Sox10	A	T	15: 79,040,660 (GRCm39)	D293E	probably damaging	Het
Sphk1	A	G	11: 116,426,596 (GRCm39)	D177G	probably damaging	Het
Sphkap	T	G	1: 83,256,121 (GRCm39)	M543L	probably benign	Het
Syt13	A	T	2: 92,783,760 (GRCm39)	K343N	probably damaging	Het
Tatdn3	A	G	1: 190,792,373 (GRCm39)	M34T	probably benign	Het
Timd4	T	G	11: 46,732,989 (GRCm39)	V305G	possibly damaging	Het
Tnnc2	T	C	2: 164,619,512 (GRCm39)	I111V	probably benign	Het
Togaram2	C	T	17: 72,004,846 (GRCm39)	P301L	probably benign	Het
Trpc3	T	C	3: 36,694,776 (GRCm39)	N726S	probably damaging	Het
Tspear	T	A	10: 77,706,253 (GRCm39)	L341H	possibly damaging	Het
Ugt1a5	T	A	1: 88,093,805 (GRCm39)		probably benign	Het
Ulk3	A	T	9: 57,500,443 (GRCm39)		probably null	Het
Unc5d	T	A	8: 29,250,777 (GRCm39)	I297L	probably benign	Het
Usp20	A	G	2: 30,908,830 (GRCm39)	I804V	probably benign	Het
Usp22	G	T	11: 61,052,144 (GRCm39)	C278*	probably null	Het
Usp53	A	T	3: 122,727,872 (GRCm39)	N903K	probably benign	Het
V1rd19	T	C	7: 23,702,812 (GRCm39)	F93L	probably benign	Het
Zdbf2	T	A	1: 63,343,493 (GRCm39)	V624E	possibly damaging	Het
Zfyve16	A	T	13: 92,645,528 (GRCm39)	S1073T	probably damaging	Het
Zkscan8	T	C	13: 21,710,765 (GRCm39)	H115R	possibly damaging	Het

Other mutations in Cdh8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Cdh8	APN	8	100,006,322 (GRCm39)	missense	probably damaging	0.99
IGL01377:Cdh8	APN	8	99,760,021 (GRCm39)	missense	probably damaging	0.99
IGL01845:Cdh8	APN	8	99,825,586 (GRCm39)	splice site	probably benign
IGL02166:Cdh8	APN	8	99,917,083 (GRCm39)	missense	probably damaging	1.00
IGL02392:Cdh8	APN	8	99,757,387 (GRCm39)	missense	probably damaging	0.96
R0007:Cdh8	UTSW	8	99,957,088 (GRCm39)	nonsense	probably null
R0179:Cdh8	UTSW	8	99,838,344 (GRCm39)	missense	possibly damaging	0.84
R0196:Cdh8	UTSW	8	99,917,066 (GRCm39)	missense	probably damaging	0.99
R0220:Cdh8	UTSW	8	99,838,311 (GRCm39)	missense	probably benign	0.21
R0271:Cdh8	UTSW	8	99,838,347 (GRCm39)	missense	possibly damaging	0.83
R0592:Cdh8	UTSW	8	100,006,110 (GRCm39)	missense	probably damaging	1.00
R0612:Cdh8	UTSW	8	100,127,546 (GRCm39)	missense	probably benign	0.02
R1404:Cdh8	UTSW	8	100,006,250 (GRCm39)	missense	probably damaging	1.00
R1404:Cdh8	UTSW	8	100,006,250 (GRCm39)	missense	probably damaging	1.00
R1588:Cdh8	UTSW	8	99,917,039 (GRCm39)	missense	probably damaging	1.00
R1717:Cdh8	UTSW	8	99,757,337 (GRCm39)	missense	probably damaging	1.00
R1781:Cdh8	UTSW	8	100,006,290 (GRCm39)	missense	probably damaging	0.98
R1781:Cdh8	UTSW	8	99,917,094 (GRCm39)	splice site	probably null
R1862:Cdh8	UTSW	8	99,917,026 (GRCm39)	missense	probably damaging	1.00
R1895:Cdh8	UTSW	8	100,006,189 (GRCm39)	missense	possibly damaging	0.84
R1912:Cdh8	UTSW	8	99,825,502 (GRCm39)	missense	probably damaging	1.00
R2005:Cdh8	UTSW	8	99,760,103 (GRCm39)	splice site	probably null
R2142:Cdh8	UTSW	8	99,838,325 (GRCm39)	missense	probably damaging	1.00
R2197:Cdh8	UTSW	8	99,922,897 (GRCm39)	missense	probably damaging	1.00
R2512:Cdh8	UTSW	8	100,127,495 (GRCm39)	missense	probably benign	0.05
R3085:Cdh8	UTSW	8	99,923,018 (GRCm39)	missense	probably benign	0.00
R3436:Cdh8	UTSW	8	100,127,350 (GRCm39)	splice site	probably benign
R3898:Cdh8	UTSW	8	99,898,005 (GRCm39)	missense	probably damaging	0.98
R4470:Cdh8	UTSW	8	100,143,321 (GRCm39)	unclassified	probably benign
R4615:Cdh8	UTSW	8	100,006,254 (GRCm39)	missense	probably damaging	1.00
R4652:Cdh8	UTSW	8	99,751,491 (GRCm39)	missense	probably benign
R4666:Cdh8	UTSW	8	99,751,534 (GRCm39)	missense	possibly damaging	0.71
R4798:Cdh8	UTSW	8	99,751,558 (GRCm39)	nonsense	probably null
R4871:Cdh8	UTSW	8	99,757,536 (GRCm39)	missense	probably damaging	1.00
R5170:Cdh8	UTSW	8	100,006,182 (GRCm39)	missense	probably damaging	1.00
R5406:Cdh8	UTSW	8	99,923,002 (GRCm39)	missense	probably damaging	1.00
R5564:Cdh8	UTSW	8	99,757,498 (GRCm39)	missense	possibly damaging	0.57
R5686:Cdh8	UTSW	8	99,759,854 (GRCm39)	missense	probably benign	0.00
R6311:Cdh8	UTSW	8	100,127,527 (GRCm39)	missense	probably damaging	0.99
R6786:Cdh8	UTSW	8	99,950,579 (GRCm39)	missense	probably benign	0.19
R6855:Cdh8	UTSW	8	99,916,849 (GRCm39)	missense	probably damaging	0.99
R6950:Cdh8	UTSW	8	99,757,395 (GRCm39)	missense	probably benign	0.18
R7112:Cdh8	UTSW	8	99,922,984 (GRCm39)	missense	probably damaging	1.00
R7181:Cdh8	UTSW	8	99,825,557 (GRCm39)	missense	probably benign
R7384:Cdh8	UTSW	8	99,957,138 (GRCm39)	missense	probably benign
R7400:Cdh8	UTSW	8	100,006,192 (GRCm39)	missense	probably damaging	1.00
R7537:Cdh8	UTSW	8	99,825,517 (GRCm39)	nonsense	probably null
R7763:Cdh8	UTSW	8	100,006,306 (GRCm39)	nonsense	probably null
R8130:Cdh8	UTSW	8	99,757,676 (GRCm39)	missense	probably damaging	0.98
R8215:Cdh8	UTSW	8	99,757,498 (GRCm39)	missense	possibly damaging	0.57
R8314:Cdh8	UTSW	8	99,898,011 (GRCm39)	missense	probably damaging	1.00
R8443:Cdh8	UTSW	8	99,757,672 (GRCm39)	missense	possibly damaging	0.56
R9673:Cdh8	UTSW	8	99,757,367 (GRCm39)	missense	possibly damaging	0.71
R9756:Cdh8	UTSW	8	99,759,976 (GRCm39)	missense	probably damaging	1.00
X0022:Cdh8	UTSW	8	100,006,107 (GRCm39)	missense	probably damaging	1.00
Z1088:Cdh8	UTSW	8	100,006,134 (GRCm39)	missense	probably damaging	1.00
Z1176:Cdh8	UTSW	8	99,916,837 (GRCm39)	missense	probably null	0.89
Z1176:Cdh8	UTSW	8	99,897,955 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ACCATTTGGAACTGGAGCAAGCC -3'
(R):5'- TGCACACCCTGTTACAAGAGCC -3'

Sequencing Primer
(F):5'- TGCCTTGGCATAAACTGCAAATC -3'
(R):5'- AGAGCCTCTTCAGTATTAAACCG -3'

Posted On

2014-04-24