Mutagenetix > Incidental Mutation

Incidental Mutation 'R9366:Cdhr1'

709004

Institutional Source

Beutler Lab

Gene Symbol

Cdhr1

Ensembl Gene

ENSMUSG00000021803

Gene Name

cadherin-related family member 1

Synonyms

Prcad, Pcdh21

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9366 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36799814-36820304 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 36811463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 216 (G216V)

Ref Sequence

ENSEMBL: ENSMUSP00000022337 (fasta)

Gene Model

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

AlphaFold

Q8VHP6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022337
AA Change: G216V

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022337
Gene: ENSMUSG00000021803
AA Change: G216V

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: 100.0%
10x: 99.7%
20x: 99.1%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	C	T	8: 71,914,328 (GRCm39)	R100Q	probably benign	Het
Acp5	C	T	9: 22,039,224 (GRCm39)	C163Y	probably damaging	Het
Ankrd17	C	T	5: 90,416,508 (GRCm39)	R1108Q	probably damaging	Het
Atp2b4	C	A	1: 133,642,920 (GRCm39)	G1062C	probably damaging	Het
Bicral	A	T	17: 47,117,558 (GRCm39)	M788K	possibly damaging	Het
C1s2	C	A	6: 124,602,694 (GRCm39)	A506S	probably benign	Het
Capn9	C	G	8: 125,332,280 (GRCm39)	T417S	probably benign	Het
Cd109	T	G	9: 78,622,275 (GRCm39)	S1422A	probably benign	Het
Cd207	G	T	6: 83,648,779 (GRCm39)	N294K	probably damaging	Het
Cdc42bpa	A	G	1: 179,921,675 (GRCm39)	E605G	probably damaging	Het
Ckap2	A	T	8: 22,658,988 (GRCm39)	M585K	possibly damaging	Het
Clp1	G	T	2: 84,556,473 (GRCm39)	S2R	probably benign	Het
Cngb3	G	T	4: 19,395,983 (GRCm39)	V342F	probably benign	Het
Col18a1	T	C	10: 76,932,258 (GRCm39)	D65G	unknown	Het
Col3a1	C	T	1: 45,380,391 (GRCm39)	P972S	unknown	Het
Cxcr5	C	T	9: 44,424,730 (GRCm39)	C309Y	possibly damaging	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Dcc	A	T	18: 71,708,281 (GRCm39)	N478K	probably damaging	Het
Emb	G	T	13: 117,357,096 (GRCm39)		probably benign	Het
Emsy	A	T	7: 98,290,860 (GRCm39)	N101K	probably benign	Het
Epb41l5	A	G	1: 119,548,448 (GRCm39)	Y137H	probably damaging	Het
Etfdh	C	T	3: 79,519,271 (GRCm39)	G354D	probably benign	Het
Fa2h	A	T	8: 112,076,006 (GRCm39)	Y206N	probably benign	Het
Gabrr2	T	C	4: 33,085,771 (GRCm39)	V217A		Het
Gimap4	A	G	6: 48,668,037 (GRCm39)	K264R	probably benign	Het
Gpr31b	C	A	17: 13,270,375 (GRCm39)	D265Y	probably damaging	Het
Irx4	A	G	13: 73,417,025 (GRCm39)	T474A	probably benign	Het
Kif21a	T	C	15: 90,843,951 (GRCm39)	E1096G	probably damaging	Het
Letm2	A	T	8: 26,084,165 (GRCm39)	V22E	probably damaging	Het
Lrrc45	A	G	11: 120,611,552 (GRCm39)	E642G	probably damaging	Het
Mark1	A	T	1: 184,653,792 (GRCm39)	V170E	probably damaging	Het
Mbd6	G	A	10: 127,122,304 (GRCm39)	Q175*	probably null	Het
Mrc1	T	A	2: 14,321,709 (GRCm39)	D1067E	probably damaging	Het
Muc5b	A	G	7: 141,417,041 (GRCm39)	H3329R	probably benign	Het
Myh1	A	T	11: 67,110,114 (GRCm39)	D1434V	probably damaging	Het
Myo5a	T	A	9: 75,124,800 (GRCm39)	L1785Q	probably damaging	Het
Myrfl	A	G	10: 116,670,358 (GRCm39)	I295T	possibly damaging	Het
Nav3	C	A	10: 109,659,364 (GRCm39)	R751L	probably damaging	Het
Neb	T	C	2: 52,172,699 (GRCm39)	K1536R	probably benign	Het
Nynrin	T	G	14: 56,100,587 (GRCm39)	S126A	probably damaging	Het
Or13p3	A	T	4: 118,566,831 (GRCm39)	T76S	probably damaging	Het
Or5m8	A	G	2: 85,822,731 (GRCm39)	D190G	possibly damaging	Het
Or6c69c	A	T	10: 129,911,067 (GRCm39)	K263*	probably null	Het
Parp14	A	C	16: 35,659,630 (GRCm39)		probably null	Het
Phldb1	G	T	9: 44,622,546 (GRCm39)	L36M	possibly damaging	Het
Pin1	C	A	9: 20,566,841 (GRCm39)	T81N	probably damaging	Het
Pkhd1l1	T	C	15: 44,410,308 (GRCm39)	I2605T	probably benign	Het
Plcb3	A	G	19: 6,937,658 (GRCm39)		probably null	Het
Proser3	G	A	7: 30,248,478 (GRCm39)	S72L	probably damaging	Het
Pum2	T	A	12: 8,783,344 (GRCm39)	S598T	probably benign	Het
Pwp1	T	A	10: 85,717,870 (GRCm39)	N269K	probably damaging	Het
Qsox1	A	G	1: 155,665,162 (GRCm39)	S260P	probably benign	Het
Ric3	A	G	7: 108,653,644 (GRCm39)	L149P	probably damaging	Het
Rif1	A	G	2: 52,010,356 (GRCm39)	T707A		Het
Rnf213	A	C	11: 119,327,057 (GRCm39)	R1682S		Het
Rpgrip1l	G	T	8: 91,996,809 (GRCm39)	Y690*	probably null	Het
Slc29a2	A	G	19: 5,074,609 (GRCm39)	T34A	probably damaging	Het
Slc6a1	A	G	6: 114,280,974 (GRCm39)	N176S	possibly damaging	Het
Slco1b2	T	A	6: 141,602,552 (GRCm39)	Y168*	probably null	Het
Snca	C	A	6: 60,792,675 (GRCm39)	A78S	probably benign	Het
Snrnp200	T	A	2: 127,058,010 (GRCm39)	D257E	probably benign	Het
Srebf2	T	C	15: 82,083,837 (GRCm39)	V959A	probably benign	Het
Stk3	A	C	15: 35,072,634 (GRCm39)	I209S	probably damaging	Het
Thsd7a	A	T	6: 12,555,480 (GRCm39)	C135S		Het
Tlnrd1	G	T	7: 83,531,582 (GRCm39)	A283E	probably benign	Het
Tomm70a	A	T	16: 56,970,259 (GRCm39)	K546*	probably null	Het
Trak1	C	T	9: 121,301,578 (GRCm39)	T778I	probably damaging	Het
Trappc9	T	C	15: 72,808,937 (GRCm39)	I709V	probably benign	Het
Trgc3	A	G	13: 19,446,825 (GRCm39)	T115A	probably benign	Het
Trp53rkb	T	C	2: 166,637,700 (GRCm39)	S219P	possibly damaging	Het
Ubqlnl	G	C	7: 103,798,592 (GRCm39)	L302V	possibly damaging	Het
Uqcc1	C	A	2: 155,771,995 (GRCm39)		probably benign	Het
Vps13a	G	A	19: 16,672,894 (GRCm39)	R1293W	probably damaging	Het
Vps9d1	G	T	8: 123,974,486 (GRCm39)	S267*	probably null	Het
Vwa5b1	A	T	4: 138,318,229 (GRCm39)	I546N	probably damaging	Het
Zbtb8b	A	T	4: 129,326,151 (GRCm39)	M338K	probably benign	Het
Zfp652	C	T	11: 95,643,833 (GRCm39)	R344*	probably null	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
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
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'- TCTTCAGGGTAATCCGAGGG -3'
(R):5'- CCATGCGTCATTGCTTTGG -3'

Sequencing Primer
(F):5'- GTAATCCGAGGGAGTCACAC -3'
(R):5'- TTTGGCATCCACAACACCATTGAG -3'

Posted On

2022-04-18