Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02097:Cdhr4'

279624

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdhr4

Ensembl Gene

ENSMUSG00000032595

Gene Name

cadherin-related family member 4

Synonyms

Cdh29, 1700021K14Rik, D330022A01Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.296) question?

Stock #

IGL02097

Quality Score

Status

Chromosome

Chromosomal Location

107992497-107999684 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107993000 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 68 (M68K)

Ref Sequence

ENSEMBL: ENSMUSP00000135184 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000175759] [ENSMUST00000176306] [ENSMUST00000176356] [ENSMUST00000176373] [ENSMUST00000177173] [ENSMUST00000177368] [ENSMUST00000177508]

AlphaFold

H3BJZ2

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000035215

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175729

Predicted Effect

probably benign
Transcript: ENSMUST00000175759

SMART Domains

Protein: ENSMUSP00000135743
Gene: ENSMUSG00000032595

Domain	Start	End	E-Value	Type
Blast:CA	3	104	4e-44	BLAST
SCOP:d1l3wa3	59	104	4e-7	SMART
transmembrane domain	125	147	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000175802

SMART Domains

Protein: ENSMUSP00000135003
Gene: ENSMUSG00000032595

Domain	Start	End	E-Value	Type
CA	33	116	5.4e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176166

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176183

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176196

Predicted Effect

probably benign
Transcript: ENSMUST00000176306

Predicted Effect

probably benign
Transcript: ENSMUST00000176334

Predicted Effect

probably benign
Transcript: ENSMUST00000176356

Predicted Effect

probably benign
Transcript: ENSMUST00000176373

SMART Domains

Protein: ENSMUSP00000134896
Gene: ENSMUSG00000032595

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176382

Predicted Effect

probably benign
Transcript: ENSMUST00000177173
AA Change: M68K

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000135184
Gene: ENSMUSG00000032595
AA Change: M68K

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	80	91	N/A	INTRINSIC
Blast:CA	149	224	2e-9	BLAST
Blast:CA	252	330	3e-33	BLAST
CA	354	437	2.24e-1	SMART
CA	459	542	5.86e-17	SMART
Blast:CA	566	649	3e-40	BLAST
transmembrane domain	680	702	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177516

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177093

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176919

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177226

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176454

Predicted Effect

probably benign
Transcript: ENSMUST00000177368

SMART Domains

Protein: ENSMUSP00000135553
Gene: ENSMUSG00000079323

Domain	Start	End	E-Value	Type
Blast:UBA_e1_C	1	39	1e-10	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000177508

SMART Domains

Protein: ENSMUSP00000135332
Gene: ENSMUSG00000032595

Domain	Start	End	E-Value	Type
Blast:CA	1	29	4e-7	BLAST
transmembrane domain	60	82	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	T	5: 104,961,186	V415D	possibly damaging	Het
Adcy3	C	T	12: 4,212,118	A1056V	probably damaging	Het
Adcy5	G	A	16: 35,272,098	A610T	probably damaging	Het
Arhgap21	G	A	2: 20,880,002	T788I	probably benign	Het
Asic1	T	C	15: 99,694,686		probably benign	Het
Cdhr5	G	T	7: 141,269,981	T637K	probably damaging	Het
Corin	A	T	5: 72,372,146	C289S	probably damaging	Het
Cpne4	T	C	9: 104,686,502	V26A	probably damaging	Het
Csmd1	T	C	8: 16,211,759	D908G	probably null	Het
Cyp2c29	A	G	19: 39,307,620	D126G	probably damaging	Het
Ddx42	G	A	11: 106,239,160	S426N	probably benign	Het
Dnah1	C	T	14: 31,305,001	V689M	possibly damaging	Het
Dtwd1	A	G	2: 126,164,795	T246A	probably damaging	Het
Fbn1	A	T	2: 125,363,969	M1036K	probably damaging	Het
Fbxo10	T	C	4: 45,048,527	N536S	probably benign	Het
Gnal	G	A	18: 67,217,208		probably benign	Het
Gns	A	G	10: 121,390,693	T416A	probably benign	Het
Heatr5b	G	A	17: 78,817,514	T603I	probably damaging	Het
Hsp90b1	T	A	10: 86,691,684		probably benign	Het
Krt23	C	T	11: 99,493,010	G19R	probably benign	Het
Lama2	C	T	10: 27,138,960	R1584H	probably benign	Het
Lmbr1l	C	T	15: 98,917,891	V11M	probably damaging	Het
Man1a2	T	C	3: 100,582,131	K511E	possibly damaging	Het
Mrgpra3	C	A	7: 47,589,456	V241F	possibly damaging	Het
Myh3	A	G	11: 67,082,924	D141G	probably benign	Het
Mylk2	G	A	2: 152,915,136	C277Y	probably damaging	Het
Myo3b	A	T	2: 70,238,829	T471S	probably damaging	Het
Naip1	A	G	13: 100,425,588	V1023A	probably benign	Het
Olfm5	T	A	7: 104,154,231	T342S	probably benign	Het
Olfr1510	A	G	14: 52,410,054	F273L	probably benign	Het
Olfr38	T	A	6: 42,762,460	M136K	probably damaging	Het
Pglyrp4	T	C	3: 90,735,603	F263L	probably benign	Het
Plekhh2	A	T	17: 84,599,180	T1148S	possibly damaging	Het
Prrc2b	T	C	2: 32,191,501		probably benign	Het
Rbm28	G	T	6: 29,138,618	D398E	possibly damaging	Het
Rnf220	A	G	4: 117,273,327	F234L	probably benign	Het
Sele	T	C	1: 164,053,093	S415P	probably benign	Het
Shpk	T	C	11: 73,203,995	L79P	probably damaging	Het
Slc35f4	C	T	14: 49,306,246	A148T	probably damaging	Het
Slc6a20a	G	A	9: 123,660,619	P120S	possibly damaging	Het
Slc8a2	A	G	7: 16,157,156	E701G	possibly damaging	Het
Slco1a1	T	A	6: 141,940,039	I87F	possibly damaging	Het
Srebf1	T	G	11: 60,202,824	D739A	probably damaging	Het
Thg1l	A	G	11: 45,950,228	Y175H	probably benign	Het
Traf3ip2	G	A	10: 39,654,479	V540M	probably damaging	Het
Wdr48	A	G	9: 119,924,263	D644G	probably damaging	Het
Zbtb1	A	T	12: 76,386,597	K452N	probably damaging	Het
Zfhx2	C	T	14: 55,062,894	G2467R	probably damaging	Het
Zfp334	A	T	2: 165,381,723	Y133*	probably null	Het

Other mutations in Cdhr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00539:Cdhr4	APN	9	107999545	missense	probably damaging	1.00
IGL01105:Cdhr4	APN	9	107995861	unclassified	probably benign
IGL02441:Cdhr4	APN	9	107993267	missense	possibly damaging	0.84
IGL02635:Cdhr4	APN	9	107992871	missense	probably benign	0.04
IGL02870:Cdhr4	APN	9	107998064	critical splice donor site	probably null
IGL03160:Cdhr4	APN	9	107995869	missense	probably benign	0.05
IGL03162:Cdhr4	APN	9	107998011	missense	probably damaging	1.00
IGL03250:Cdhr4	APN	9	107996659	missense	probably damaging	0.99
R0233:Cdhr4	UTSW	9	107996934	missense	probably benign	0.25
R0233:Cdhr4	UTSW	9	107996934	missense	probably benign	0.25
R1241:Cdhr4	UTSW	9	107995296	missense	probably benign	0.00
R1250:Cdhr4	UTSW	9	107997516	missense	probably damaging	1.00
R2102:Cdhr4	UTSW	9	107998007	missense	probably damaging	1.00
R2104:Cdhr4	UTSW	9	107996261	missense	probably damaging	0.97
R2106:Cdhr4	UTSW	9	107997494	missense	possibly damaging	0.75
R2108:Cdhr4	UTSW	9	107997644	missense	probably damaging	1.00
R2171:Cdhr4	UTSW	9	107992918	missense	probably benign	0.00
R2312:Cdhr4	UTSW	9	107995287	missense	probably benign	0.00
R4106:Cdhr4	UTSW	9	107996260	missense	probably damaging	1.00
R4515:Cdhr4	UTSW	9	107992951	missense	probably benign	0.31
R4686:Cdhr4	UTSW	9	107995684	missense	probably benign	0.00
R4799:Cdhr4	UTSW	9	107998699	splice site	probably benign
R5165:Cdhr4	UTSW	9	107997630	missense	probably damaging	1.00
R5478:Cdhr4	UTSW	9	107995591	missense	possibly damaging	0.61
R5574:Cdhr4	UTSW	9	107993328	unclassified	probably benign
R7387:Cdhr4	UTSW	9	107996912	nonsense	probably null
R7609:Cdhr4	UTSW	9	107997283	missense	probably damaging	0.99
R7663:Cdhr4	UTSW	9	107998772	nonsense	probably null
R8141:Cdhr4	UTSW	9	107996792	missense
R8483:Cdhr4	UTSW	9	107994999	missense	probably damaging	1.00
R8493:Cdhr4	UTSW	9	107996254	missense	probably damaging	1.00
R8715:Cdhr4	UTSW	9	107997397	missense
R8816:Cdhr4	UTSW	9	107995592	missense	possibly damaging	0.56
R9392:Cdhr4	UTSW	9	107996308	missense	probably damaging	1.00

Posted On

2015-04-16