Mutagenetix > Incidental Mutations

Incidental Mutation 'R7653:Cdhr1'

580501

Institutional Source

Beutler Lab

Gene Symbol

Cdhr1

Ensembl Gene

ENSMUSG00000021803

Gene Name

cadherin-related family member 1

Synonyms

Pcdh21, Prcad

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R7653 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37077857-37098347 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 37082201 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 500 (P500Q)

Ref Sequence

ENSEMBL: ENSMUSP00000022337 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000022337
AA Change: P500Q

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000022337
Gene: ENSMUSG00000021803
AA Change: P500Q

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	A	T	6: 92,828,069	Q70L	unknown	Het
Adamts12	T	A	15: 11,257,029	N489K	probably benign	Het
Alms1	A	G	6: 85,620,595	D801G	possibly damaging	Het
Apex1	T	G	14: 50,926,538	N173K	probably damaging	Het
Arhgap32	A	T	9: 32,257,145	N808I	probably benign	Het
Arhgef28	T	C	13: 97,969,313	Y706C	probably benign	Het
Atg2b	A	T	12: 105,636,472	F1604Y	possibly damaging	Het
Atm	A	T	9: 53,490,302	Y1422*	probably null	Het
Bace2	T	A	16: 97,436,652	V38E		Het
BC053393	A	C	11: 46,584,373	S132R	probably benign	Het
Birc6	C	A	17: 74,647,734	L3442I	possibly damaging	Het
C6	T	A	15: 4,814,762	S889T		Het
Calcrl	A	T	2: 84,345,185	L275*	probably null	Het
Casp6	T	C	3: 129,912,223	Y180H	probably benign	Het
Cd5	T	C	19: 10,726,546	M51V	probably benign	Het
Celsr3	G	A	9: 108,835,070	W1732*	probably null	Het
Ces2g	T	C	8: 104,962,653	V87A	probably damaging	Het
Chil6	T	C	3: 106,394,325	N153S	possibly damaging	Het
Chrna5	A	T	9: 55,002,434	D113V	probably benign	Het
Cox20	A	G	1: 178,322,599	T113A	probably benign	Het
Cryl1	T	C	14: 57,303,691	I179V	probably benign	Het
Dennd3	A	G	15: 73,562,426	T982A	probably damaging	Het
Drosha	G	A	15: 12,859,436	V577I	probably benign	Het
Dync2h1	A	G	9: 7,117,570	S2240P	probably benign	Het
Fam166b	T	G	4: 43,427,273		probably null	Het
Fbxl5	C	T	5: 43,758,774	S432N	probably benign	Het
Fez1	T	A	9: 36,860,850	S150R	probably benign	Het
Gabrb2	T	G	11: 42,487,212	M85R	probably damaging	Het
Gm2035	T	A	12: 87,919,478	D127V	unknown	Het
Lhx4	A	G	1: 155,704,871	V203A	probably damaging	Het
Med23	G	A	10: 24,904,384	D977N	probably damaging	Het
Mplkip	T	C	13: 17,695,782	F100L	probably damaging	Het
Ncoa7	C	T	10: 30,694,243	G240E	probably damaging	Het
Nedd4	A	G	9: 72,743,628	E827G	probably damaging	Het
Nfatc2	A	G	2: 168,571,145	F207L	probably benign	Het
Nr2f1	A	T	13: 78,195,597	S183T	probably benign	Het
Ocel1	A	G	8: 71,371,916	E81G	probably benign	Het
Olfr1513	C	A	14: 52,349,432	G205*	probably null	Het
Olfr432	T	C	1: 174,050,922	V183A	probably benign	Het
Olfr733	C	T	14: 50,299,147	G54E	possibly damaging	Het
Pcdh8	G	A	14: 79,767,646	P980S	probably benign	Het
Pex26	A	T	6: 121,193,551	Q285L	possibly damaging	Het
Plce1	A	T	19: 38,749,319	N1603I	probably benign	Het
Poli	A	T	18: 70,509,627	C501S	probably benign	Het
Ppp4r4	C	T	12: 103,584,145	T276I	probably damaging	Het
Rbpj	T	A	5: 53,590,351	M1K	probably null	Het
Recql4	T	A	15: 76,703,782	M1204L	probably benign	Het
Ribc2	T	C	15: 85,141,675	I284T	probably benign	Het
Rreb1	C	A	13: 37,930,386	Q574K	probably benign	Het
Scn9a	A	T	2: 66,527,080	L959Q	probably damaging	Het
Shank1	C	A	7: 44,319,669	H329Q	unknown	Het
Soat2	A	T	15: 102,162,578	D469V	probably damaging	Het
Spag7	T	A	11: 70,664,865	H82L	probably damaging	Het
Sptb	T	C	12: 76,628,497	I248V	probably benign	Het
Tacr3	A	G	3: 134,861,082	I239V	probably benign	Het
Tbc1d1	T	C	5: 64,256,790	F165L	probably benign	Het
Tchhl1	A	G	3: 93,471,144	E385G	probably benign	Het
Tecta	C	T	9: 42,337,236	D1957N	probably damaging	Het
Tenm2	T	C	11: 36,047,347	I1501V	probably benign	Het
Tet2	G	T	3: 133,486,385	Q763K	probably benign	Het
Tmem8	T	A	17: 26,120,449	M579K	probably damaging	Het
Tox3	G	A	8: 90,248,989	T338I	probably damaging	Het
Usp30	G	A	5: 114,121,669	D479N	probably damaging	Het
Vmn1r27	T	C	6: 58,215,800	D73G	possibly damaging	Het
Vmn1r27	A	T	6: 58,215,894	S42T	probably benign	Het
Vmn2r120	A	T	17: 57,509,258	V699D	possibly damaging	Het
Vwa2	A	T	19: 56,909,335	T691S	probably benign	Het
Wdr31	T	A	4: 62,463,429	Q55L	probably benign	Het
Xdh	A	G	17: 73,897,045	F1107L	probably benign	Het
Zfp184	A	G	13: 21,959,717	H531R	probably damaging	Het
Zfp366	T	C	13: 99,229,201	L290P	probably damaging	Het

Other mutations in Cdhr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00673:Cdhr1	APN	14	37085528	missense	probably benign	0.06
IGL01820:Cdhr1	APN	14	37085579	missense	probably benign	0.11
IGL02469:Cdhr1	APN	14	37085600	missense	possibly damaging	0.68
IGL03373:Cdhr1	APN	14	37096300	missense	possibly damaging	0.89
IGL03055:Cdhr1	UTSW	14	37095097	missense	probably benign	0.07
PIT4494001:Cdhr1	UTSW	14	37082856	missense	probably benign	0.07
R0110:Cdhr1	UTSW	14	37080676	missense	probably damaging	0.99
R0219:Cdhr1	UTSW	14	37079601	missense	possibly damaging	0.82
R0265:Cdhr1	UTSW	14	37081376	missense	probably benign	0.02
R0450:Cdhr1	UTSW	14	37080676	missense	probably damaging	0.99
R0510:Cdhr1	UTSW	14	37080676	missense	probably damaging	0.99
R0522:Cdhr1	UTSW	14	37094000	critical splice donor site	probably null
R0788:Cdhr1	UTSW	14	37087375	critical splice donor site	probably null
R0880:Cdhr1	UTSW	14	37080634	missense	possibly damaging	0.53
R1209:Cdhr1	UTSW	14	37082942	splice site	probably null
R1253:Cdhr1	UTSW	14	37079625	missense	probably benign
R1604:Cdhr1	UTSW	14	37095093	missense	probably benign	0.29
R1968:Cdhr1	UTSW	14	37079725	missense	probably benign	0.00
R2064:Cdhr1	UTSW	14	37095105	missense	probably benign	0.10
R2248:Cdhr1	UTSW	14	37081377	missense	probably benign
R3843:Cdhr1	UTSW	14	37084927	missense	probably benign	0.03
R4178:Cdhr1	UTSW	14	37082939	splice site	probably null
R4205:Cdhr1	UTSW	14	37080504	missense	probably benign	0.00
R4681:Cdhr1	UTSW	14	37096237	missense	probably benign	0.01
R5039:Cdhr1	UTSW	14	37079643	missense	probably benign	0.02
R5088:Cdhr1	UTSW	14	37089465	missense	probably benign	0.08
R5383:Cdhr1	UTSW	14	37089007	missense	possibly damaging	0.94
R5507:Cdhr1	UTSW	14	37082845	missense	probably damaging	0.98
R5933:Cdhr1	UTSW	14	37089462	missense	probably benign	0.01
R6074:Cdhr1	UTSW	14	37079643	missense	probably benign	0.02
R6291:Cdhr1	UTSW	14	37089465	missense	probably benign	0.31
R6449:Cdhr1	UTSW	14	37090597	missense	probably benign	0.35
R6890:Cdhr1	UTSW	14	37085645	missense	probably damaging	1.00
R6891:Cdhr1	UTSW	14	37097377	splice site	probably null
R7740:Cdhr1	UTSW	14	37089380	missense	probably damaging	0.98
R7805:Cdhr1	UTSW	14	37081545	missense	probably benign	0.00
R8081:Cdhr1	UTSW	14	37094010	missense	probably benign	0.01
R8147:Cdhr1	UTSW	14	37079652	missense	probably benign	0.02
R8164:Cdhr1	UTSW	14	37079542	missense	probably damaging	1.00
R8283:Cdhr1	UTSW	14	37082780	missense	probably benign	0.00
R8343:Cdhr1	UTSW	14	37091978	missense	probably benign	0.00
X0062:Cdhr1	UTSW	14	37079779	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTACCTCAGGCTCTCCATGG -3'
(R):5'- TCCCTGAAGAAAACTGGGTAC -3'

Sequencing Primer
(F):5'- ACCCTGTAATCTTGGATGTTTACC -3'
(R):5'- GTACAGAGCAGTCTTCAGGCTAC -3'

Posted On

2019-10-07