Mutagenetix > Incidental Mutation

Incidental Mutation 'R4178:Cdhr1'

319605

Institutional Source

Beutler Lab

Gene Symbol

Cdhr1

Ensembl Gene

ENSMUSG00000021803

Gene Name

cadherin-related family member 1

Synonyms

Prcad, Pcdh21

MMRRC Submission

040864-MU

Accession Numbers

Essential gene?

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

Stock #

R4178 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36799814-36820304 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 36804896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022337 (fasta)

Gene Model

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

AlphaFold

Q8VHP6

Predicted Effect

probably null
Transcript: ENSMUST00000022337

SMART Domains

Protein: ENSMUSP00000022337
Gene: ENSMUSG00000021803

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

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.3%

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Antxrl	A	G	14: 33,776,928 (GRCm39)		probably null	Het
Atp2b2	A	T	6: 113,770,679 (GRCm39)	V410E	probably damaging	Het
C6	G	A	15: 4,764,621 (GRCm39)	V106I	probably benign	Het
Cfap44	T	A	16: 44,272,216 (GRCm39)	L1323Q	possibly damaging	Het
Ehd4	T	A	2: 119,984,829 (GRCm39)	Y43F	probably damaging	Het
Eno1	T	C	4: 150,328,490 (GRCm39)	I90T	possibly damaging	Het
Epb41l1	A	G	2: 156,363,477 (GRCm39)	Y662C	probably benign	Het
Fkbp14	A	G	6: 54,566,299 (GRCm39)	L103P	probably damaging	Het
Gm10322	C	A	10: 59,452,052 (GRCm39)	N56K	probably benign	Het
Iqcd	C	A	5: 120,740,476 (GRCm39)	T269K	probably damaging	Het
Kat6b	T	A	14: 21,668,972 (GRCm39)	C249*	probably null	Het
Kcnab2	T	C	4: 152,489,058 (GRCm39)	R109G	probably null	Het
Obox7	A	G	7: 14,398,032 (GRCm39)	Q24R	probably damaging	Het
Obox7	C	A	7: 14,398,031 (GRCm39)	Q24K	probably damaging	Het
Or5p1	A	G	7: 107,916,565 (GRCm39)	N155D	probably damaging	Het
Or5p68	G	A	7: 107,945,765 (GRCm39)	T141I	probably benign	Het
Or8g18	A	C	9: 39,149,375 (GRCm39)	L115*	probably null	Het
Rasgrf2	C	T	13: 92,038,717 (GRCm39)	G1043D	probably damaging	Het
Slf1	A	G	13: 77,191,688 (GRCm39)	S1049P	probably damaging	Het
Smc1b	A	T	15: 85,004,848 (GRCm39)	F409I	possibly damaging	Het
Tab2	A	G	10: 7,795,123 (GRCm39)	V453A	probably damaging	Het
Ubr4	A	G	4: 139,120,725 (GRCm39)	Y338C	probably damaging	Het
Usp6nl	A	G	2: 6,445,787 (GRCm39)	E588G	probably benign	Het
Vcan	T	C	13: 89,873,666 (GRCm39)	R63G	probably damaging	Het
Zfp775	A	G	6: 48,590,187 (GRCm39)		probably null	Het
Zfpm2	T	C	15: 40,966,940 (GRCm39)	C1010R	probably damaging	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
IGL03373:Cdhr1	APN	14	36,818,257 (GRCm39)	missense	possibly damaging	0.89
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
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

Predicted Primers

PCR Primer
(F):5'- TCCCCAACCTACTGTGACAG -3'
(R):5'- CATCAGGAACCAGAAGACTGTG -3'

Sequencing Primer
(F):5'- TACTGTGACAGCCACCACGTTG -3'
(R):5'- GTGGTATGAGCCTACAATCTCAGC -3'

Posted On

2015-06-10