Mutagenetix > Incidental Mutation

Incidental Mutation 'R0002:Cdhr5'

157135

Institutional Source

Beutler Lab

Gene Symbol

Cdhr5

Ensembl Gene

ENSMUSG00000025497

Gene Name

cadherin-related family member 5

Synonyms

Mupcdh, Mucdhl, 1810074H01Rik

MMRRC Submission

038298-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R0002 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

140848996-140856699 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 140849933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148123 (fasta)

Gene Model

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

probably null
Transcript: ENSMUST00000080654

SMART Domains

Protein: ENSMUSP00000079484
Gene: ENSMUSG00000025497

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

probably null
Transcript: ENSMUST00000167263

SMART Domains

Protein: ENSMUSP00000127292
Gene: ENSMUSG00000025497

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

probably benign
Transcript: ENSMUST00000210773

Predicted Effect

probably null
Transcript: ENSMUST00000210124

Predicted Effect

probably null
Transcript: ENSMUST00000210124

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146373

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148414

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155744

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210386

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131399

Predicted Effect

probably benign
Transcript: ENSMUST00000209899

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156938

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

97% (36/37)

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: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcl2	T	C	1: 106,640,241 (GRCm39)	R124G	possibly damaging	Het
Catsper1	A	G	19: 5,391,551 (GRCm39)		probably benign	Het
Ccdc125	C	T	13: 100,830,114 (GRCm39)	Q295*	probably null	Het
Dhx36	A	C	3: 62,388,260 (GRCm39)	L625W	probably damaging	Het
Icam5	T	A	9: 20,944,801 (GRCm39)	D121E	probably benign	Het
Ncoa1	A	G	12: 4,340,885 (GRCm39)	V849A	probably benign	Het
Nuak1	A	T	10: 84,211,231 (GRCm39)	W286R	probably damaging	Het
Pate14	A	T	9: 36,548,655 (GRCm39)	D59E	probably damaging	Het
Prkag3	T	C	1: 74,783,947 (GRCm39)	D312G	probably damaging	Het
Sbk3	T	C	7: 4,973,630 (GRCm39)	D17G	probably damaging	Het
Slc26a5	T	A	5: 22,019,981 (GRCm39)	I530F	probably damaging	Het
Spink12	T	C	18: 44,240,763 (GRCm39)	C50R	probably damaging	Het
Sult3a2	T	C	10: 33,655,803 (GRCm39)	I59V	possibly damaging	Het
Tapbp	C	T	17: 34,144,606 (GRCm39)	A234V	probably damaging	Het
Tnr	T	C	1: 159,701,770 (GRCm39)	Y624H	probably damaging	Het
Zfp560	T	C	9: 20,258,813 (GRCm39)	Y683C	probably damaging	Het

Other mutations in Cdhr5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02097:Cdhr5	APN	7	140,849,894 (GRCm39)	missense	probably damaging	0.99
IGL02662:Cdhr5	APN	7	140,854,416 (GRCm39)	missense	possibly damaging	0.57
R0098:Cdhr5	UTSW	7	140,849,781 (GRCm39)	missense	probably damaging	1.00
R0201:Cdhr5	UTSW	7	140,856,291 (GRCm39)	missense	probably damaging	1.00
R0494:Cdhr5	UTSW	7	140,852,431 (GRCm39)	missense	probably damaging	1.00
R0508:Cdhr5	UTSW	7	140,852,812 (GRCm39)	missense	probably benign	0.41
R0918:Cdhr5	UTSW	7	140,852,062 (GRCm39)	missense	probably damaging	1.00
R1570:Cdhr5	UTSW	7	140,851,682 (GRCm39)	missense	probably damaging	1.00
R1571:Cdhr5	UTSW	7	140,852,083 (GRCm39)	missense	probably damaging	1.00
R1838:Cdhr5	UTSW	7	140,852,516 (GRCm39)	missense	possibly damaging	0.93
R3912:Cdhr5	UTSW	7	140,853,770 (GRCm39)	missense	probably damaging	1.00
R4289:Cdhr5	UTSW	7	140,852,752 (GRCm39)	missense	probably damaging	0.99
R4491:Cdhr5	UTSW	7	140,853,970 (GRCm39)	missense	possibly damaging	0.55
R4838:Cdhr5	UTSW	7	140,853,644 (GRCm39)	missense	probably damaging	1.00
R4949:Cdhr5	UTSW	7	140,852,557 (GRCm39)	missense	probably damaging	0.97
R5187:Cdhr5	UTSW	7	140,854,361 (GRCm39)	missense	probably damaging	1.00
R5344:Cdhr5	UTSW	7	140,856,437 (GRCm39)	missense	probably damaging	0.97
R5642:Cdhr5	UTSW	7	140,849,110 (GRCm39)	nonsense	probably null
R6736:Cdhr5	UTSW	7	140,852,444 (GRCm39)	missense	probably damaging	0.97
R7172:Cdhr5	UTSW	7	140,851,841 (GRCm39)	missense	possibly damaging	0.90
R7212:Cdhr5	UTSW	7	140,852,572 (GRCm39)	missense	probably damaging	0.99
R7693:Cdhr5	UTSW	7	140,851,691 (GRCm39)	missense	probably benign
R8397:Cdhr5	UTSW	7	140,851,801 (GRCm39)	missense	possibly damaging	0.87
R8682:Cdhr5	UTSW	7	140,855,899 (GRCm39)	critical splice donor site	probably null
R8804:Cdhr5	UTSW	7	140,849,320 (GRCm39)	missense	probably benign	0.01
R9216:Cdhr5	UTSW	7	140,851,615 (GRCm39)	missense	possibly damaging	0.55
R9304:Cdhr5	UTSW	7	140,851,474 (GRCm39)	missense	probably benign	0.06
RF016:Cdhr5	UTSW	7	140,852,097 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- TGAGTTAGTCCCCTTACCGAAGCC -3'
(R):5'- TACAGTGTGCCCTTGAAGACCACC -3'

Sequencing Primer
(F):5'- TTACCGAAGCCTTCCCAGAG -3'
(R):5'- CATGTTACAATGGTATCCCCAGG -3'

Posted On

2014-02-14