Mutagenetix > Incidental Mutation

Incidental Mutation 'R9035:Cdhr1'

687331

Institutional Source

Beutler Lab

Gene Symbol

Cdhr1

Ensembl Gene

ENSMUSG00000021803

Gene Name

cadherin-related family member 1

Synonyms

Pcdh21, Prcad

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R9035 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37077857-37098347 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37088967 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 279 (P279L)

Ref Sequence

ENSEMBL: ENSMUSP00000022337 (fasta)

Gene Model

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

AlphaFold

Q8VHP6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022337
AA Change: P279L

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000022337
Gene: ENSMUSG00000021803
AA Change: P279L

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: 99.5%
20x: 98.3%

Validation Efficiency

99% (90/91)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430573F11Rik	C	T	8: 36,511,800	R186*	probably null	Het
Abca9	A	G	11: 110,130,635	L1083P	probably damaging	Het
Anxa7	G	T	14: 20,460,392	T356K	probably damaging	Het
Atg16l1	T	C	1: 87,765,445		probably null	Het
Bptf	A	G	11: 107,073,016	V1784A	probably damaging	Het
Cabs1	T	C	5: 87,980,450	V320A	probably damaging	Het
Camta1	A	C	4: 151,144,702	S558A	probably benign	Het
Ccdc180	A	T	4: 45,906,922	K466*	probably null	Het
Cenpe	A	G	3: 135,270,811	N2393S	probably benign	Het
Cep104	T	C	4: 153,979,005	V8A	probably benign	Het
Chaf1a	T	A	17: 56,064,110	V665E	probably damaging	Het
Clasp1	T	A	1: 118,503,853	D404E	probably damaging	Het
Clnk	G	A	5: 38,750,408	T169I	possibly damaging	Het
Cnst	G	A	1: 179,610,022	A384T	possibly damaging	Het
Ctnnd2	T	A	15: 30,332,016	M15K	possibly damaging	Het
Dlgap1	T	A	17: 70,516,860	L280Q	possibly damaging	Het
Dll1	T	C	17: 15,368,697	K572R	probably benign	Het
Dolk	C	A	2: 30,284,530	W501L	probably damaging	Het
Ednrb	G	A	14: 103,843,229	P83L	probably benign	Het
Edrf1	T	C	7: 133,643,702	W190R	probably damaging	Het
Epha5	T	A	5: 84,108,027	D468V	probably damaging	Het
Fat2	G	T	11: 55,303,721	P1164Q	probably damaging	Het
Fbln5	A	T	12: 101,750,782	V436E	probably damaging	Het
Fbxw10	G	T	11: 62,867,623	R558L	possibly damaging	Het
Fhod3	C	A	18: 25,028,083	S557R	probably benign	Het
Gm340	A	T	19: 41,584,960	H718L	probably benign	Het
Gmip	A	T	8: 69,820,648	H863L	probably damaging	Het
Grm3	A	T	5: 9,570,464	I260N	probably damaging	Het
Gtpbp8	G	A	16: 44,746,148	P64S	probably benign	Het
Hand1	A	C	11: 57,831,722	M22R	probably benign	Het
Igsf21	A	G	4: 140,157,471	V58A	probably damaging	Het
Ikzf2	G	A	1: 69,539,478	R291*	probably null	Het
Itih4	C	G	14: 30,896,693	P687R	probably benign	Het
Kifc3	C	T	8: 95,126,567	D54N	possibly damaging	Het
Kmt2c	G	T	5: 25,319,012	Q1739K	probably damaging	Het
Krtap4-1	G	T	11: 99,627,882	R101S	unknown	Het
L3mbtl2	T	A	15: 81,676,543		probably benign	Het
Lrrc73	T	C	17: 46,254,367	I8T	probably damaging	Het
Med19	C	A	2: 84,686,188		probably benign	Het
Mgarp	C	T	3: 51,388,843	S246N	unknown	Het
Mkrn2	T	C	6: 115,617,720	S414P	possibly damaging	Het
Mucl2	C	T	15: 103,896,013	R137H	unknown	Het
Myo1g	A	G	11: 6,514,916	Y453H	probably damaging	Het
Nacc2	C	A	2: 26,061,593	R410L	probably damaging	Het
Ndufs3	C	T	2: 90,894,873	R210H	probably damaging	Het
Nlgn1	G	T	3: 25,434,431	T580K	probably damaging	Het
Nobox	A	T	6: 43,307,588	D41E	probably damaging	Het
Nsd1	A	G	13: 55,245,854	R526G	possibly damaging	Het
Nt5e	A	G	9: 88,364,820	M370V	probably benign	Het
Olfm5	T	A	7: 104,153,892	N455Y	probably damaging	Het
Olfr1080	T	A	2: 86,553,677	Y149F	probably damaging	Het
Olfr1188	T	A	2: 88,559,519	F6I	probably damaging	Het
Olfr130	T	C	17: 38,067,288	V39A	probably benign	Het
Olfr150	G	A	9: 39,737,590	M258I	probably benign	Het
Olfr596	T	C	7: 103,309,979	I86T	probably damaging	Het
Pcdhac2	T	C	18: 37,144,705	V246A	probably damaging	Het
Pclo	A	T	5: 14,713,178	Q603H		Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Pkhd1	T	A	1: 20,502,952	Q1910L	probably damaging	Het
Plg	C	A	17: 12,390,220	Y137*	probably null	Het
Prkra	T	C	2: 76,630,512	I281V	probably benign	Het
Prrc2c	A	C	1: 162,675,726	L2722R	possibly damaging	Het
Prss12	A	G	3: 123,485,500	T409A	probably damaging	Het
Rnaseh1	A	G	12: 28,658,291	Q256R	probably benign	Het
Rpp14	T	A	14: 8,083,772	Y17N	possibly damaging	Het
Ryr1	A	T	7: 29,090,997	H1468Q	probably damaging	Het
Scp2	C	T	4: 108,055,520	V463M	probably damaging	Het
Sf3b4	C	A	3: 96,173,065	H43Q	probably damaging	Het
Sgpp1	T	C	12: 75,735,464	S34G	probably benign	Het
Shisa9	T	A	16: 11,985,038	I153N	probably damaging	Het
Sin3b	C	A	8: 72,723,464	P3H	unknown	Het
Slc15a2	C	A	16: 36,782,357	K47N	possibly damaging	Het
Slc30a6	T	A	17: 74,419,591	F297L	probably benign	Het
Slc45a3	TGGGG	TGGGGG	1: 131,981,449		probably null	Het
Slfn4	A	T	11: 83,186,650	D88V	probably benign	Het
Tgs1	C	A	4: 3,593,491	Q460K	probably benign	Het
Tlr11	A	T	14: 50,360,977	D140V	probably benign	Het
Tmem215	T	A	4: 40,473,945	N7K	probably damaging	Het
Tmem245	T	C	4: 56,922,384		probably benign	Het
Tnfsf10	G	A	3: 27,335,230	D147N	probably benign	Het
Tpm1	A	G	9: 67,047,856	L57P	possibly damaging	Het
Trappc10	T	C	10: 78,207,889		probably benign	Het
Ttc30b	T	C	2: 75,937,252	T386A	probably benign	Het
Ttn	T	C	2: 76,762,717	T20730A	possibly damaging	Het
Uap1	A	T	1: 170,149,444	Y395*	probably null	Het
Usp2	A	T	9: 44,075,879	D158V	probably damaging	Het
Usp30	A	G	5: 114,105,816	M149V	probably benign	Het
Vmn2r2	T	C	3: 64,116,751	N803S	probably damaging	Het
Vmn2r85	A	G	10: 130,425,610	V286A	probably benign	Het
Wdr78	T	A	4: 103,048,302	K761*	probably null	Het
Xdh	T	C	17: 73,910,227	H682R	probably benign	Het
Zbed3	T	A	13: 95,336,491	L141Q	probably damaging	Het
Zfp623	T	C	15: 75,948,313	C373R	possibly 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
R7653:Cdhr1	UTSW	14	37082201	missense	probably benign	0.27
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
R8848:Cdhr1	UTSW	14	37080574	missense	probably benign	0.21
R8938:Cdhr1	UTSW	14	37087448	missense	probably benign	0.17
R9031:Cdhr1	UTSW	14	37094019	missense	probably benign
R9206:Cdhr1	UTSW	14	37080548	missense	probably damaging	0.99
R9246:Cdhr1	UTSW	14	37079697	missense	possibly damaging	0.46
R9274:Cdhr1	UTSW	14	37080607	missense	probably benign	0.15
R9366:Cdhr1	UTSW	14	37089506	missense	possibly damaging	0.92
R9401:Cdhr1	UTSW	14	37098098	missense	probably benign
R9545:Cdhr1	UTSW	14	37095059	missense	possibly damaging	0.51
R9713:Cdhr1	UTSW	14	37079794	missense	probably damaging	1.00
R9797:Cdhr1	UTSW	14	37081505	missense	probably damaging	1.00
X0062:Cdhr1	UTSW	14	37079779	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGAATGCACATGGCTCTCAG -3'
(R):5'- AGATGCAAAGAGCCCTAAGC -3'

Sequencing Primer
(F):5'- CTCTCTCTGGATGTAATGACAAGCAC -3'
(R):5'- CAGGACACAGCAGGGTCAC -3'

Posted On

2021-11-19