Mutagenetix > Incidental Mutation

Incidental Mutation 'R8804:Cdhr5'

671922

Institutional Source

Beutler Lab

Gene Symbol

Cdhr5

Ensembl Gene

ENSMUSG00000025497

Gene Name

cadherin-related family member 5

Synonyms

Mupcdh, Mucdhl, 1810074H01Rik

MMRRC Submission

068641-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R8804 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140848996-140856699 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140849320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 747 (T747A)

Ref Sequence

ENSEMBL: ENSMUSP00000127292 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000080654
AA Change: T585A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000079484
Gene: ENSMUSG00000025497
AA Change: T585A

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

probably benign
Transcript: ENSMUST00000167263
AA Change: T747A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000127292
Gene: ENSMUSG00000025497
AA Change: T747A

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: ENSMUST00000209899

Predicted Effect

probably benign
Transcript: ENSMUST00000210124

Predicted Effect

probably benign
Transcript: ENSMUST00000210773

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (79/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700064H15Rik	T	C	3: 19,682,820 (GRCm39)		probably benign	Het
Adamts1	A	G	16: 85,599,300 (GRCm39)	F100S	probably damaging	Het
Adamts5	A	G	16: 85,666,800 (GRCm39)		probably benign	Het
Adgrb2	T	A	4: 129,899,212 (GRCm39)	W309R	probably damaging	Het
Adgrl2	A	T	3: 148,552,652 (GRCm39)	V617E	probably damaging	Het
Akt1	T	C	12: 112,625,041 (GRCm39)	E169G	probably damaging	Het
Arhgap40	A	G	2: 158,389,626 (GRCm39)	T600A	probably benign	Het
B4galt3	C	T	1: 171,103,947 (GRCm39)	H395Y	probably benign	Het
BC024139	T	G	15: 76,008,284 (GRCm39)	T376P	possibly damaging	Het
Bin3	A	G	14: 70,361,296 (GRCm39)	R22G	probably damaging	Het
Cadps2	A	T	6: 23,496,805 (GRCm39)	I480N	probably damaging	Het
Camsap3	A	G	8: 3,652,624 (GRCm39)	T401A	probably benign	Het
Ccdc168	T	C	1: 44,095,809 (GRCm39)	N1763S	probably benign	Het
Chn2	A	G	6: 54,250,061 (GRCm39)	I193V	probably benign	Het
Clca3b	T	C	3: 144,544,898 (GRCm39)	N363S	probably benign	Het
Clec7a	T	C	6: 129,442,518 (GRCm39)	T125A	probably benign	Het
Cys1	A	T	12: 24,718,610 (GRCm39)	L81Q	unknown	Het
Dcbld2	G	A	16: 58,281,412 (GRCm39)		probably benign	Het
Ddx60	T	A	8: 62,411,640 (GRCm39)	D497E	probably benign	Het
Dnah2	T	C	11: 69,356,511 (GRCm39)	I2117V	probably benign	Het
Dnah6	G	A	6: 73,042,756 (GRCm39)	S3274F	probably benign	Het
Dock9	A	T	14: 121,842,595 (GRCm39)	I1225N	probably damaging	Het
Egfr	A	G	11: 16,819,339 (GRCm39)	T290A	probably benign	Het
Elmod2	T	A	8: 84,046,150 (GRCm39)	K142N	probably benign	Het
Ephx2	T	C	14: 66,324,469 (GRCm39)	T441A	probably benign	Het
Fam234a	A	G	17: 26,435,531 (GRCm39)		probably benign	Het
Fer1l4	C	A	2: 155,893,914 (GRCm39)	E102D	probably benign	Het
Fermt3	A	G	19: 6,991,694 (GRCm39)		probably benign	Het
Fgd5	C	T	6: 91,964,507 (GRCm39)	R247C	probably benign	Het
Gm14443	G	A	2: 175,011,652 (GRCm39)	H265Y	probably damaging	Het
Gykl1	A	G	18: 52,827,608 (GRCm39)	D272G	probably benign	Het
Hip1r	T	C	5: 124,139,575 (GRCm39)	S952P	possibly damaging	Het
Hmcn2	A	G	2: 31,315,393 (GRCm39)	N3714S	probably benign	Het
Ighv1-36	G	T	12: 114,843,581 (GRCm39)	T93K	probably benign	Het
Igsf10	T	G	3: 59,243,876 (GRCm39)	T153P	probably damaging	Het
Kif13b	T	C	14: 64,987,791 (GRCm39)	C773R	probably damaging	Het
Lipf	T	A	19: 33,942,198 (GRCm39)	Y43N	probably damaging	Het
Mlh1	T	C	9: 111,093,972 (GRCm39)	D90G	probably damaging	Het
Msh5	A	T	17: 35,251,830 (GRCm39)	I410K	probably benign	Het
Mylk3	T	C	8: 86,085,874 (GRCm39)	D220G	probably benign	Het
Ncdn	G	A	4: 126,643,898 (GRCm39)	A308V	probably benign	Het
Nfu1	T	A	6: 86,993,414 (GRCm39)		probably benign	Het
Nup153	A	G	13: 46,840,635 (GRCm39)	V991A	probably benign	Het
Nup188	T	A	2: 30,220,891 (GRCm39)	H960Q	probably benign	Het
Parp4	G	T	14: 56,853,900 (GRCm39)	E839*	probably null	Het
Pfas	T	C	11: 68,881,908 (GRCm39)	N30D		Het
Pitpnc1	T	A	11: 107,103,431 (GRCm39)	N223Y	probably damaging	Het
Plaat1	T	A	16: 29,039,205 (GRCm39)	V95E	probably benign	Het
Plod1	C	T	4: 147,997,778 (GRCm39)	V644I	probably damaging	Het
Pou2f1	T	C	1: 165,708,039 (GRCm39)	T548A	unknown	Het
Psg20	A	T	7: 18,416,584 (GRCm39)	N177K	possibly damaging	Het
Psmb8	T	A	17: 34,419,225 (GRCm39)	I173N	probably damaging	Het
Rimkla	G	A	4: 119,325,273 (GRCm39)	Q379*	probably null	Het
Rnasel	G	T	1: 153,629,661 (GRCm39)	G59V	probably damaging	Het
Rptn	A	T	3: 93,303,150 (GRCm39)	D161V	probably damaging	Het
Scrt1	C	A	15: 76,403,411 (GRCm39)	C193F	unknown	Het
Sdk2	G	T	11: 113,763,978 (GRCm39)	Y269*	probably null	Het
Sfxn2	G	C	19: 46,574,243 (GRCm39)		probably benign	Het
Slc17a4	G	T	13: 24,087,245 (GRCm39)	T264K	probably benign	Het
Slfn8	T	A	11: 82,907,639 (GRCm39)	Q301H	possibly damaging	Het
Sntb1	G	A	15: 55,655,523 (GRCm39)	S231F	probably benign	Het
Spag17	T	A	3: 99,874,506 (GRCm39)	S137T	probably benign	Het
Srd5a2	A	T	17: 74,354,629 (GRCm39)	V65E	possibly damaging	Het
Stk11ip	A	G	1: 75,511,900 (GRCm39)	H967R	probably benign	Het
Sun1	A	G	5: 139,216,920 (GRCm39)	T320A	probably benign	Het
Svep1	A	G	4: 58,206,043 (GRCm39)	S112P	possibly damaging	Het
Tacc2	T	C	7: 130,294,693 (GRCm39)	L15P	probably benign	Het
Tas2r140	T	A	6: 133,032,326 (GRCm39)	N144I	probably damaging	Het
Thpo	T	A	16: 20,544,707 (GRCm39)	R174S	probably damaging	Het
Tnik	A	T	3: 28,648,202 (GRCm39)	Q418L	unknown	Het
Tnr	A	T	1: 159,685,882 (GRCm39)	Q371L	probably benign	Het
Tulp2	G	A	7: 45,170,398 (GRCm39)	R439Q	probably damaging	Het
Uchl4	G	T	9: 64,142,606 (GRCm39)	W29L	probably damaging	Het
Vrk3	T	A	7: 44,407,270 (GRCm39)	C80*	probably null	Het
Washc4	T	C	10: 83,408,015 (GRCm39)	L540P	probably damaging	Het
Wscd1	T	C	11: 71,675,161 (GRCm39)	F356S	probably damaging	Het
Wwc1	A	T	11: 35,774,144 (GRCm39)	M372K	probably benign	Het
Zfhx2	A	G	14: 55,312,191 (GRCm39)	F168L	probably benign	Het
Zfp28	A	G	7: 6,393,399 (GRCm39)	D175G	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
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
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'- GTCAGGGTCATCATCATCGC -3'
(R):5'- AAGTGGCTATGACAACCTGAC -3'

Sequencing Primer
(F):5'- TCACTTCCCGAGGCACTG -3'
(R):5'- GGCTATGACAACCTGACCTTCC -3'

Posted On

2021-04-30