Mutagenetix > Incidental Mutation

Incidental Mutation 'R1571:Cdhr5'

186206

Institutional Source

Beutler Lab

Gene Symbol

Cdhr5

Ensembl Gene

ENSMUSG00000025497

Gene Name

cadherin-related family member 5

Synonyms

Mupcdh, Mucdhl, 1810074H01Rik

MMRRC Submission

039610-MU

Accession Numbers

Essential gene?

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

Stock #

R1571 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

140848996-140856699 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140852083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 190 (T190A)

Ref Sequence

ENSEMBL: ENSMUSP00000148123 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000080654
AA Change: T440A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000079484
Gene: ENSMUSG00000025497
AA Change: T440A

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

possibly damaging
Transcript: ENSMUST00000167263
AA Change: T440A

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000127292
Gene: ENSMUSG00000025497
AA Change: T440A

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 damaging
Transcript: ENSMUST00000210124
AA Change: T190A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210386

Predicted Effect

probably benign
Transcript: ENSMUST00000210773

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610524H06Rik	A	G	5: 114,961,372 (GRCm39)		probably null	Het
Abcd3	T	C	3: 121,586,491 (GRCm39)	I70V	possibly damaging	Het
Acad10	T	C	5: 121,759,411 (GRCm39)	Y1024C	probably damaging	Het
Atp2b3	T	G	X: 72,588,712 (GRCm39)	V701G	probably damaging	Het
Cbfa2t2	T	A	2: 154,342,347 (GRCm39)	M21K	probably damaging	Het
Cdc25a	C	T	9: 109,710,614 (GRCm39)	T106I	possibly damaging	Het
Chl1	A	G	6: 103,685,445 (GRCm39)	T829A	probably benign	Het
Clcn6	T	C	4: 148,097,226 (GRCm39)	T614A	possibly damaging	Het
Cntln	A	T	4: 84,865,823 (GRCm39)	R160*	probably null	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dock3	C	A	9: 106,815,158 (GRCm39)	M1236I	possibly damaging	Het
Eif4g3	T	A	4: 137,847,719 (GRCm39)	H213Q	probably damaging	Het
Eya1	T	A	1: 14,279,141 (GRCm39)	H372L	probably damaging	Het
Fam13b	A	G	18: 34,630,485 (GRCm39)	V91A	possibly damaging	Het
Hat1	T	A	2: 71,264,519 (GRCm39)	I319K	probably benign	Het
Kcnf1	T	C	12: 17,225,853 (GRCm39)	N123D	probably benign	Het
Kcns3	C	A	12: 11,141,551 (GRCm39)	G383W	probably damaging	Het
Kprp	A	T	3: 92,732,689 (GRCm39)	C120*	probably null	Het
Lama3	T	A	18: 12,672,774 (GRCm39)	C2456S	probably damaging	Het
Lrp1b	A	T	2: 41,366,658 (GRCm39)	D539E	probably damaging	Het
Matn3	T	C	12: 9,005,466 (GRCm39)	L292S	probably damaging	Het
Mbd3l1	T	A	9: 18,395,947 (GRCm39)	I24N	probably damaging	Het
Med10	T	C	13: 69,958,159 (GRCm39)	L37P	probably damaging	Het
Mrc1	A	T	2: 14,313,544 (GRCm39)	H925L	probably damaging	Het
Myo15a	T	A	11: 60,409,290 (GRCm39)	I3219N	probably damaging	Het
Nom1	C	T	5: 29,647,633 (GRCm39)	Q623*	probably null	Het
Nrm	T	A	17: 36,175,079 (GRCm39)	W136R	probably damaging	Het
Or8h8	A	C	2: 86,753,789 (GRCm39)	V29G	probably benign	Het
Pde7b	T	C	10: 20,288,836 (GRCm39)	N298S	probably benign	Het
Piezo2	C	T	18: 63,277,990 (GRCm39)	A305T	possibly damaging	Het
Pimreg	T	C	11: 71,936,042 (GRCm39)	L175P	possibly damaging	Het
Pkhd1l1	A	G	15: 44,390,237 (GRCm39)	D1451G	probably benign	Het
Ptpro	A	G	6: 137,355,128 (GRCm39)	S212G	probably benign	Het
Rhpn1	C	T	15: 75,585,967 (GRCm39)	R627C	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnase4	T	G	14: 51,342,497 (GRCm39)	F74V	probably damaging	Het
Sbno2	A	G	10: 79,896,226 (GRCm39)		probably null	Het
Selp	T	C	1: 163,954,176 (GRCm39)	Y159H	probably damaging	Het
Senp6	A	G	9: 80,000,853 (GRCm39)	T21A	probably damaging	Het
Slco1a7	A	T	6: 141,700,135 (GRCm39)	C132*	probably null	Het
Slco3a1	T	C	7: 74,154,128 (GRCm39)	D148G	possibly damaging	Het
Smtn	G	A	11: 3,480,102 (GRCm39)	P373L	probably benign	Het
Snx20	A	T	8: 89,356,597 (GRCm39)	L73Q	probably damaging	Het
Sobp	A	G	10: 43,033,942 (GRCm39)	V128A	possibly damaging	Het
Tcerg1	A	G	18: 42,657,357 (GRCm39)	T280A	unknown	Het
Tgfbrap1	A	G	1: 43,088,973 (GRCm39)	V810A	probably benign	Het
Thbs1	C	A	2: 117,949,678 (GRCm39)	D589E	probably damaging	Het
Tjp2	A	G	19: 24,078,239 (GRCm39)	Y885H	probably damaging	Het
Tmem109	A	G	19: 10,849,993 (GRCm39)	S100P	probably damaging	Het
Trim36	T	C	18: 46,305,562 (GRCm39)	K462E	probably benign	Het
Vmn1r226	A	T	17: 20,908,538 (GRCm39)	I257F	probably damaging	Het
Vmn2r92	A	G	17: 18,372,352 (GRCm39)	Y54C	probably damaging	Het
Wdcp	T	A	12: 4,901,924 (GRCm39)	Y593*	probably null	Het
Wdr59	T	C	8: 112,177,682 (GRCm39)	S907G	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
R0002:Cdhr5	UTSW	7	140,849,933 (GRCm39)	splice site	probably null
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
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'- TACTTGAAGGCCCAGTCGTTCCTC -3'
(R):5'- AGTGCCTCATCTAGGACCTCAACTC -3'

Sequencing Primer
(F):5'- AGTCGTTCCTCCAGCTTCTG -3'
(R):5'- GCTGTCACATATCGAGTCACC -3'

Posted On

2014-05-09