Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03373:Cdhr1'

420388

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdhr1

Ensembl Gene

ENSMUSG00000021803

Gene Name

cadherin-related family member 1

Synonyms

Prcad, Pcdh21

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

IGL03373

Quality Score

Status

Chromosome

Chromosomal Location

36799814-36820304 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36818257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 65 (D65V)

Ref Sequence

ENSEMBL: ENSMUSP00000022337 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022337]

AlphaFold

Q8VHP6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022337
AA Change: D65V

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022337
Gene: ENSMUSG00000021803
AA Change: D65V

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
CA	57	133	9.4e-7	SMART
CA	157	245	9.44e-21	SMART
CA	269	352	2.06e-12	SMART
CA	383	471	2.68e-11	SMART
CA	495	575	5.26e-19	SMART
CA	594	685	1.64e-6	SMART
transmembrane domain	703	725	N/A	INTRINSIC
low complexity region	734	745	N/A	INTRINSIC
low complexity region	789	799	N/A	INTRINSIC
low complexity region	817	829	N/A	INTRINSIC

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 belongs to the cadherin superfamily of calcium-dependent cell adhesion molecules. The encoded protein is a photoreceptor-specific cadherin that plays a role in outer segment disc morphogenesis. Mutations in this gene are associated with inherited retinal dystrophies. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit progressive degeneration of retinal photoreceptor cells and a slight reduction in light responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	A	T	12: 113,509,172 (GRCm39)	Y515F	possibly damaging	Het
Adgrv1	A	G	13: 81,711,751 (GRCm39)	V1075A	probably damaging	Het
Alox8	T	C	11: 69,077,443 (GRCm39)	T436A	probably benign	Het
Cdc7	T	A	5: 107,120,785 (GRCm39)		probably benign	Het
Dnase1	A	G	16: 3,857,707 (GRCm39)	E278G	probably damaging	Het
Eif3g	A	T	9: 20,805,722 (GRCm39)		probably benign	Het
Flnb	G	A	14: 7,890,867 (GRCm38)		probably null	Het
Hars2	G	T	18: 36,918,998 (GRCm39)	R86L	probably damaging	Het
Lmod1	C	T	1: 135,292,264 (GRCm39)	A373V	possibly damaging	Het
Mdga2	A	G	12: 66,763,496 (GRCm39)	I200T	probably damaging	Het
Mup1	T	G	4: 60,457,849 (GRCm39)		probably benign	Het
Nat8f5	A	C	6: 85,794,529 (GRCm39)	S144A	probably benign	Het
Ndnf	A	C	6: 65,681,272 (GRCm39)	Y517S	possibly damaging	Het
Nedd4l	G	A	18: 65,314,391 (GRCm39)		probably benign	Het
Nlrp4g	A	T	9: 124,349,853 (GRCm38)		noncoding transcript	Het
Nob1	C	T	8: 108,144,678 (GRCm39)		probably benign	Het
Nploc4	G	A	11: 120,300,455 (GRCm39)	R326*	probably null	Het
Obox3	A	T	7: 15,359,715 (GRCm39)	V318D	probably benign	Het
Or10a3m	G	A	7: 108,313,339 (GRCm39)	V248I	probably damaging	Het
Or10ag57	T	C	2: 87,218,577 (GRCm39)	F176S	probably damaging	Het
Pgm1	T	C	4: 99,818,741 (GRCm39)	I130T	probably damaging	Het
Ptprk	A	T	10: 28,442,533 (GRCm39)	D845V	probably damaging	Het
Ptx4	T	A	17: 25,339,873 (GRCm39)	S17T	probably benign	Het
Rasgrf1	T	C	9: 89,899,084 (GRCm39)		probably benign	Het
Rfx6	A	G	10: 51,596,096 (GRCm39)	T426A	probably damaging	Het
Sfpq	C	A	4: 126,920,578 (GRCm39)	R564S	possibly damaging	Het
Spint2	A	G	7: 28,957,634 (GRCm39)		probably benign	Het
Vmn1r27	A	G	6: 58,192,689 (GRCm39)	I105T	probably damaging	Het
Vmn1r78	T	C	7: 11,887,270 (GRCm39)	S294P	possibly damaging	Het
Vmn2r40	T	C	7: 8,923,092 (GRCm39)	D423G	probably benign	Het

Other mutations in Cdhr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00673:Cdhr1	APN	14	36,807,485 (GRCm39)	missense	probably benign	0.06
IGL01820:Cdhr1	APN	14	36,807,536 (GRCm39)	missense	probably benign	0.11
IGL02469:Cdhr1	APN	14	36,807,557 (GRCm39)	missense	possibly damaging	0.68
IGL03055:Cdhr1	UTSW	14	36,817,054 (GRCm39)	missense	probably benign	0.07
PIT4494001:Cdhr1	UTSW	14	36,804,813 (GRCm39)	missense	probably benign	0.07
R0110:Cdhr1	UTSW	14	36,802,633 (GRCm39)	missense	probably damaging	0.99
R0219:Cdhr1	UTSW	14	36,801,558 (GRCm39)	missense	possibly damaging	0.82
R0265:Cdhr1	UTSW	14	36,803,333 (GRCm39)	missense	probably benign	0.02
R0450:Cdhr1	UTSW	14	36,802,633 (GRCm39)	missense	probably damaging	0.99
R0510:Cdhr1	UTSW	14	36,802,633 (GRCm39)	missense	probably damaging	0.99
R0522:Cdhr1	UTSW	14	36,815,957 (GRCm39)	critical splice donor site	probably null
R0788:Cdhr1	UTSW	14	36,809,332 (GRCm39)	critical splice donor site	probably null
R0880:Cdhr1	UTSW	14	36,802,591 (GRCm39)	missense	possibly damaging	0.53
R1209:Cdhr1	UTSW	14	36,804,899 (GRCm39)	splice site	probably null
R1253:Cdhr1	UTSW	14	36,801,582 (GRCm39)	missense	probably benign
R1604:Cdhr1	UTSW	14	36,817,050 (GRCm39)	missense	probably benign	0.29
R1968:Cdhr1	UTSW	14	36,801,682 (GRCm39)	missense	probably benign	0.00
R2064:Cdhr1	UTSW	14	36,817,062 (GRCm39)	missense	probably benign	0.10
R2248:Cdhr1	UTSW	14	36,803,334 (GRCm39)	missense	probably benign
R3843:Cdhr1	UTSW	14	36,806,884 (GRCm39)	missense	probably benign	0.03
R4178:Cdhr1	UTSW	14	36,804,896 (GRCm39)	splice site	probably null
R4205:Cdhr1	UTSW	14	36,802,461 (GRCm39)	missense	probably benign	0.00
R4681:Cdhr1	UTSW	14	36,818,194 (GRCm39)	missense	probably benign	0.01
R5039:Cdhr1	UTSW	14	36,801,600 (GRCm39)	missense	probably benign	0.02
R5088:Cdhr1	UTSW	14	36,811,422 (GRCm39)	missense	probably benign	0.08
R5383:Cdhr1	UTSW	14	36,810,964 (GRCm39)	missense	possibly damaging	0.94
R5507:Cdhr1	UTSW	14	36,804,802 (GRCm39)	missense	probably damaging	0.98
R5933:Cdhr1	UTSW	14	36,811,419 (GRCm39)	missense	probably benign	0.01
R6074:Cdhr1	UTSW	14	36,801,600 (GRCm39)	missense	probably benign	0.02
R6291:Cdhr1	UTSW	14	36,811,422 (GRCm39)	missense	probably benign	0.31
R6449:Cdhr1	UTSW	14	36,812,554 (GRCm39)	missense	probably benign	0.35
R6890:Cdhr1	UTSW	14	36,807,602 (GRCm39)	missense	probably damaging	1.00
R6891:Cdhr1	UTSW	14	36,819,334 (GRCm39)	splice site	probably null
R7653:Cdhr1	UTSW	14	36,804,158 (GRCm39)	missense	probably benign	0.27
R7740:Cdhr1	UTSW	14	36,811,337 (GRCm39)	missense	probably damaging	0.98
R7805:Cdhr1	UTSW	14	36,803,502 (GRCm39)	missense	probably benign	0.00
R8081:Cdhr1	UTSW	14	36,815,967 (GRCm39)	missense	probably benign	0.01
R8147:Cdhr1	UTSW	14	36,801,609 (GRCm39)	missense	probably benign	0.02
R8164:Cdhr1	UTSW	14	36,801,499 (GRCm39)	missense	probably damaging	1.00
R8283:Cdhr1	UTSW	14	36,804,737 (GRCm39)	missense	probably benign	0.00
R8343:Cdhr1	UTSW	14	36,813,935 (GRCm39)	missense	probably benign	0.00
R8848:Cdhr1	UTSW	14	36,802,531 (GRCm39)	missense	probably benign	0.21
R8938:Cdhr1	UTSW	14	36,809,405 (GRCm39)	missense	probably benign	0.17
R9031:Cdhr1	UTSW	14	36,815,976 (GRCm39)	missense	probably benign
R9035:Cdhr1	UTSW	14	36,810,924 (GRCm39)	missense	possibly damaging	0.69
R9206:Cdhr1	UTSW	14	36,802,505 (GRCm39)	missense	probably damaging	0.99
R9246:Cdhr1	UTSW	14	36,801,654 (GRCm39)	missense	possibly damaging	0.46
R9274:Cdhr1	UTSW	14	36,802,564 (GRCm39)	missense	probably benign	0.15
R9366:Cdhr1	UTSW	14	36,811,463 (GRCm39)	missense	possibly damaging	0.92
R9401:Cdhr1	UTSW	14	36,820,055 (GRCm39)	missense	probably benign
R9545:Cdhr1	UTSW	14	36,817,016 (GRCm39)	missense	possibly damaging	0.51
R9713:Cdhr1	UTSW	14	36,801,751 (GRCm39)	missense	probably damaging	1.00
R9797:Cdhr1	UTSW	14	36,803,462 (GRCm39)	missense	probably damaging	1.00
X0062:Cdhr1	UTSW	14	36,801,736 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02