Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02097:Cdhr5'

279635

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdhr5

Ensembl Gene

ENSMUSG00000025497

Gene Name

cadherin-related family member 5

Synonyms

1810074H01Rik, Mupcdh, Mucdhl

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

IGL02097

Quality Score

Status

Chromosome

Chromosomal Location

141269083-141276786 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 141269981 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 637 (T637K)

Ref Sequence

ENSEMBL: ENSMUSP00000127292 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026571] [ENSMUST00000080654] [ENSMUST00000097952] [ENSMUST00000106023] [ENSMUST00000167263] [ENSMUST00000210124] [ENSMUST00000210773] [ENSMUST00000209899]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000026571

SMART Domains

Protein: ENSMUSP00000026571
Gene: ENSMUSG00000025498

Domain	Start	End	E-Value	Type
IRF	5	127	1.13e-54	SMART
IRF-3	240	420	1.38e-63	SMART
low complexity region	425	442	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080654
AA Change: T475K

PolyPhen 2 Score 0.509 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000079484
Gene: ENSMUSG00000025497
AA Change: T475K

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
CA	53	125	3.78e-2	SMART
CA	152	238	2.34e-1	SMART
Blast:CA	277	355	3e-35	BLAST
Blast:CA	388	458	3e-24	BLAST
transmembrane domain	478	500	N/A	INTRINSIC
low complexity region	546	580	N/A	INTRINSIC
low complexity region	634	653	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097952

SMART Domains

Protein: ENSMUSP00000095565
Gene: ENSMUSG00000025498

Domain	Start	End	E-Value	Type
IRF	5	127	1.13e-54	SMART
IRF-3	209	389	1.38e-63	SMART
low complexity region	394	411	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106023

SMART Domains

Protein: ENSMUSP00000101644
Gene: ENSMUSG00000025498

Domain	Start	End	E-Value	Type
IRF	5	127	1.13e-54	SMART
IRF-3	208	388	1.38e-63	SMART
low complexity region	393	410	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123525

SMART Domains

Protein: ENSMUSP00000121026
Gene: ENSMUSG00000025498

Domain	Start	End	E-Value	Type
IRF	1	69	6.35e-3	SMART
IRF-3	77	251	2.62e-55	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127223

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131399

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146373

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148414

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155744

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156938

Predicted Effect

probably damaging
Transcript: ENSMUST00000167263
AA Change: T637K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127292
Gene: ENSMUSG00000025497
AA Change: T637K

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
CA	53	125	3.78e-2	SMART
CA	152	238	2.34e-1	SMART
Blast:CA	277	355	3e-35	BLAST
Blast:CA	388	458	1e-24	BLAST
low complexity region	462	476	N/A	INTRINSIC
low complexity region	496	518	N/A	INTRINSIC
low complexity region	520	544	N/A	INTRINSIC
low complexity region	559	576	N/A	INTRINSIC
transmembrane domain	640	662	N/A	INTRINSIC
low complexity region	708	742	N/A	INTRINSIC
low complexity region	796	815	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210124
AA Change: T293K

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

silent
Transcript: ENSMUST00000210773

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210386

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210506

Predicted Effect

probably benign
Transcript: ENSMUST00000209899

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a novel mucin-like gene that is a member of the cadherin superfamily. While encoding nonpolymorphic tandem repeats rich in proline, serine and threonine similar to mucin proteins, the gene also contains sequence encoding calcium-binding motifs found in all cadherins. The role of the hybrid extracellular region and the specific function of this protein have not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jan 2010]

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
Cdhr4	T	A	9: 107,993,000	M68K	probably benign	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 Cdhr5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02662:Cdhr5	APN	7	141274503	missense	possibly damaging	0.57
R0002:Cdhr5	UTSW	7	141270020	splice site	probably null
R0098:Cdhr5	UTSW	7	141269868	missense	probably damaging	1.00
R0201:Cdhr5	UTSW	7	141276378	missense	probably damaging	1.00
R0494:Cdhr5	UTSW	7	141272518	missense	probably damaging	1.00
R0508:Cdhr5	UTSW	7	141272899	missense	probably benign	0.41
R0918:Cdhr5	UTSW	7	141272149	missense	probably damaging	1.00
R1570:Cdhr5	UTSW	7	141271769	missense	probably damaging	1.00
R1571:Cdhr5	UTSW	7	141272170	missense	probably damaging	1.00
R1838:Cdhr5	UTSW	7	141272603	missense	possibly damaging	0.93
R3912:Cdhr5	UTSW	7	141273857	missense	probably damaging	1.00
R4289:Cdhr5	UTSW	7	141272839	missense	probably damaging	0.99
R4491:Cdhr5	UTSW	7	141274057	missense	possibly damaging	0.55
R4838:Cdhr5	UTSW	7	141273731	missense	probably damaging	1.00
R4949:Cdhr5	UTSW	7	141272644	missense	probably damaging	0.97
R5187:Cdhr5	UTSW	7	141274448	missense	probably damaging	1.00
R5344:Cdhr5	UTSW	7	141276524	missense	probably damaging	0.97
R5642:Cdhr5	UTSW	7	141269197	nonsense	probably null
R6736:Cdhr5	UTSW	7	141272531	missense	probably damaging	0.97
R7172:Cdhr5	UTSW	7	141271928	missense	possibly damaging	0.90
R7212:Cdhr5	UTSW	7	141272659	missense	probably damaging	0.99
R7693:Cdhr5	UTSW	7	141271778	missense	probably benign
R8397:Cdhr5	UTSW	7	141271888	missense	possibly damaging	0.87
R8682:Cdhr5	UTSW	7	141275986	critical splice donor site	probably null
R8804:Cdhr5	UTSW	7	141269407	missense	probably benign	0.01
R9216:Cdhr5	UTSW	7	141271702	missense	possibly damaging	0.55
R9304:Cdhr5	UTSW	7	141271561	missense	probably benign	0.06
RF016:Cdhr5	UTSW	7	141272184	missense	possibly damaging	0.90

Posted On

2015-04-16