Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02005:Cdhr2'

183170

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdhr2

Ensembl Gene

ENSMUSG00000034918

Gene Name

cadherin-related family member 2

Synonyms

Pcdh24, LOC268663

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

IGL02005

Quality Score

Status

Chromosome

Chromosomal Location

54849276-54884475 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 54867576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 469 (H469Y)

Ref Sequence

ENSEMBL: ENSMUSP00000043596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037145]

AlphaFold

E9Q7P9

Predicted Effect

probably benign
Transcript: ENSMUST00000037145
AA Change: H469Y

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000043596
Gene: ENSMUSG00000034918
AA Change: H469Y

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
CA	48	122	8.62e-15	SMART
CA	146	239	1.4e-2	SMART
CA	263	351	2.19e-16	SMART
CA	391	478	4.22e-9	SMART
CA	503	584	2.15e-24	SMART
CA	605	693	6.78e-22	SMART
CA	715	805	1.78e-16	SMART
CA	830	925	7.57e-11	SMART
CA	950	1042	7.1e-2	SMART
low complexity region	1121	1147	N/A	INTRINSIC
transmembrane domain	1153	1175	N/A	INTRINSIC
low complexity region	1195	1209	N/A	INTRINSIC
low complexity region	1234	1250	N/A	INTRINSIC
low complexity region	1264	1277	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 is a member of the protocadherin family, which represents a subset of the larger cadherin superfamily. The members of the protocadherin family encode non-classical cadherins that function as calcium-dependent cell-cell adhesion molecules. This protocadherin represents a new candidate for tumor suppression. Alternatively spliced transcript variants that encode the same protein have been identified. [provided by RefSeq, Jan 2010]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 89,965,927 (GRCm39)	D141G	probably damaging	Het
Ankhd1	T	G	18: 36,781,479 (GRCm39)	L2177R	probably damaging	Het
Arhgap23	A	T	11: 97,382,045 (GRCm39)	D1136V	probably damaging	Het
Atp6v1b1	A	G	6: 83,730,896 (GRCm39)		probably benign	Het
Atxn1	T	C	13: 45,721,701 (GRCm39)	T65A	probably benign	Het
Bbs4	A	G	9: 59,243,638 (GRCm39)		probably benign	Het
Bms1	G	A	6: 118,381,546 (GRCm39)	T664M	probably damaging	Het
Bod1l	T	C	5: 41,973,682 (GRCm39)	D2544G	probably benign	Het
Cep57l1	T	C	10: 41,616,957 (GRCm39)	D110G	probably benign	Het
Chd4	G	A	6: 125,105,779 (GRCm39)	E1786K	possibly damaging	Het
Cltc	T	C	11: 86,621,045 (GRCm39)	K321E	possibly damaging	Het
Col6a2	T	C	10: 76,446,007 (GRCm39)	D383G	probably damaging	Het
Crcp	T	G	5: 130,071,074 (GRCm39)	C58G	probably benign	Het
Ctc1	A	G	11: 68,921,975 (GRCm39)	Y807C	probably damaging	Het
Eml4	T	A	17: 83,785,132 (GRCm39)		probably benign	Het
Glce	A	T	9: 61,967,859 (GRCm39)	L431I	probably damaging	Het
Glp1r	C	A	17: 31,143,585 (GRCm39)	T207K	probably benign	Het
Gm28042	G	A	2: 119,865,115 (GRCm39)	V247I	possibly damaging	Het
Gvin-ps5	G	T	7: 105,928,627 (GRCm39)	F423L	unknown	Het
Hcrtr1	T	A	4: 130,031,056 (GRCm39)	H76L	probably benign	Het
Hoxb13	G	A	11: 96,085,435 (GRCm39)	G56D	probably damaging	Het
Hykk	A	G	9: 54,827,842 (GRCm39)	E27G	possibly damaging	Het
Kars1	A	T	8: 112,726,736 (GRCm39)	L321*	probably null	Het
Klhl12	A	T	1: 134,391,652 (GRCm39)	T95S	possibly damaging	Het
Klhl14	A	T	18: 21,757,668 (GRCm39)	Y347*	probably null	Het
Kmt5b	A	G	19: 3,836,538 (GRCm39)	H25R	possibly damaging	Het
Krtap12-1	T	A	10: 77,556,823 (GRCm39)	V122D	probably damaging	Het
Lrrc66	T	C	5: 73,766,077 (GRCm39)	D322G	possibly damaging	Het
Lrrc8b	T	A	5: 105,628,920 (GRCm39)	V422D	probably benign	Het
Med12l	T	G	3: 59,152,368 (GRCm39)	M1051R	probably damaging	Het
Mmrn1	A	G	6: 60,937,728 (GRCm39)	Y242C	probably damaging	Het
Ncf2	A	T	1: 152,692,803 (GRCm39)	I107L	possibly damaging	Het
Or6b13	C	T	7: 139,782,345 (GRCm39)	E113K	probably damaging	Het
Pdlim4	T	C	11: 53,950,810 (GRCm39)	D93G	probably benign	Het
Pgap1	C	A	1: 54,590,214 (GRCm39)	A75S	probably damaging	Het
Pkd1	A	G	17: 24,804,978 (GRCm39)	D3209G	possibly damaging	Het
Prcp	T	C	7: 92,577,032 (GRCm39)	S319P	probably benign	Het
Rasal2	G	A	1: 156,984,568 (GRCm39)	Q1035*	probably null	Het
Ryr3	A	T	2: 112,493,608 (GRCm39)		probably benign	Het
Scaf8	T	C	17: 3,236,145 (GRCm39)	I544T	probably damaging	Het
Svep1	A	T	4: 58,069,056 (GRCm39)	V2910E	possibly damaging	Het
Tln2	C	T	9: 67,299,787 (GRCm39)	R155Q	possibly damaging	Het
Trpm7	A	T	2: 126,655,104 (GRCm39)	L1278H	probably damaging	Het
Tti2	G	T	8: 31,645,858 (GRCm39)	G391C	probably damaging	Het
Ttn	C	T	2: 76,778,363 (GRCm39)	M1295I	possibly damaging	Het
Ttn	T	C	2: 76,554,313 (GRCm39)		probably benign	Het
Vmn1r170	G	A	7: 23,306,338 (GRCm39)	V247M	probably damaging	Het
Wdr48	T	C	9: 119,734,455 (GRCm39)	Y125H	probably damaging	Het
Wdtc1	C	T	4: 133,036,225 (GRCm39)	R105H	probably benign	Het
Zc3h11a	A	G	1: 133,549,880 (GRCm39)	S699P	probably benign	Het
Zkscan14	C	T	5: 145,132,419 (GRCm39)	V371I	probably benign	Het
Zzef1	A	T	11: 72,779,125 (GRCm39)	Y1862F	probably benign	Het

Other mutations in Cdhr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Cdhr2	APN	13	54,866,112 (GRCm39)	missense	probably damaging	1.00
IGL00596:Cdhr2	APN	13	54,868,810 (GRCm39)	missense	probably damaging	0.97
IGL00840:Cdhr2	APN	13	54,867,965 (GRCm39)	missense	probably damaging	0.96
IGL00956:Cdhr2	APN	13	54,866,156 (GRCm39)	missense	probably damaging	1.00
IGL01101:Cdhr2	APN	13	54,865,948 (GRCm39)	splice site	probably benign
IGL01150:Cdhr2	APN	13	54,878,931 (GRCm39)	missense	probably benign
IGL01412:Cdhr2	APN	13	54,873,707 (GRCm39)	missense	probably damaging	1.00
IGL01515:Cdhr2	APN	13	54,866,051 (GRCm39)	missense	probably benign	0.17
IGL02187:Cdhr2	APN	13	54,881,523 (GRCm39)	missense	possibly damaging	0.86
IGL02312:Cdhr2	APN	13	54,865,701 (GRCm39)	missense	probably null	0.97
IGL02877:Cdhr2	APN	13	54,882,550 (GRCm39)	missense	probably benign	0.39
IGL03072:Cdhr2	APN	13	54,874,474 (GRCm39)	missense	probably benign	0.00
IGL03263:Cdhr2	APN	13	54,865,926 (GRCm39)	missense	possibly damaging	0.75
FR4449:Cdhr2	UTSW	13	54,873,737 (GRCm39)	small insertion	probably benign
PIT4494001:Cdhr2	UTSW	13	54,866,255 (GRCm39)	critical splice acceptor site	probably null
PIT4498001:Cdhr2	UTSW	13	54,866,052 (GRCm39)	missense	possibly damaging	0.75
R0041:Cdhr2	UTSW	13	54,874,651 (GRCm39)	missense	probably damaging	1.00
R0149:Cdhr2	UTSW	13	54,881,820 (GRCm39)	missense	probably damaging	1.00
R0329:Cdhr2	UTSW	13	54,882,614 (GRCm39)	unclassified	probably benign
R0361:Cdhr2	UTSW	13	54,881,820 (GRCm39)	missense	probably damaging	1.00
R0365:Cdhr2	UTSW	13	54,866,105 (GRCm39)	missense	probably benign	0.00
R0598:Cdhr2	UTSW	13	54,874,552 (GRCm39)	missense	probably damaging	1.00
R0774:Cdhr2	UTSW	13	54,865,668 (GRCm39)	missense	probably damaging	1.00
R1330:Cdhr2	UTSW	13	54,882,081 (GRCm39)	missense	possibly damaging	0.67
R1458:Cdhr2	UTSW	13	54,865,685 (GRCm39)	missense	probably damaging	0.99
R1659:Cdhr2	UTSW	13	54,867,574 (GRCm39)	missense	probably damaging	1.00
R1698:Cdhr2	UTSW	13	54,867,394 (GRCm39)	missense	probably benign	0.00
R2061:Cdhr2	UTSW	13	54,868,631 (GRCm39)	missense	probably damaging	1.00
R2098:Cdhr2	UTSW	13	54,863,457 (GRCm39)	missense	probably benign	0.15
R2135:Cdhr2	UTSW	13	54,868,760 (GRCm39)	missense	probably damaging	1.00
R2365:Cdhr2	UTSW	13	54,865,901 (GRCm39)	missense	probably benign	0.01
R3693:Cdhr2	UTSW	13	54,874,229 (GRCm39)	missense	probably damaging	1.00
R3968:Cdhr2	UTSW	13	54,874,271 (GRCm39)	missense	probably damaging	1.00
R3970:Cdhr2	UTSW	13	54,874,271 (GRCm39)	missense	probably damaging	1.00
R4001:Cdhr2	UTSW	13	54,866,079 (GRCm39)	missense	probably benign	0.09
R4003:Cdhr2	UTSW	13	54,866,079 (GRCm39)	missense	probably benign	0.09
R4030:Cdhr2	UTSW	13	54,865,674 (GRCm39)	missense	probably damaging	1.00
R4088:Cdhr2	UTSW	13	54,865,701 (GRCm39)	missense	probably null	0.97
R4256:Cdhr2	UTSW	13	54,861,818 (GRCm39)	missense	probably damaging	0.99
R4322:Cdhr2	UTSW	13	54,881,534 (GRCm39)	missense	probably benign	0.00
R4396:Cdhr2	UTSW	13	54,863,478 (GRCm39)	missense	probably damaging	0.99
R4591:Cdhr2	UTSW	13	54,863,497 (GRCm39)	missense	probably benign	0.18
R4726:Cdhr2	UTSW	13	54,866,352 (GRCm39)	missense	probably damaging	0.99
R5370:Cdhr2	UTSW	13	54,868,700 (GRCm39)	missense	probably damaging	1.00
R5396:Cdhr2	UTSW	13	54,884,269 (GRCm39)	missense	probably benign
R5447:Cdhr2	UTSW	13	54,881,063 (GRCm39)	missense	probably damaging	1.00
R5654:Cdhr2	UTSW	13	54,884,349 (GRCm39)	missense	probably benign
R5727:Cdhr2	UTSW	13	54,872,121 (GRCm39)	missense	possibly damaging	0.95
R5771:Cdhr2	UTSW	13	54,874,508 (GRCm39)	missense	probably damaging	0.99
R5924:Cdhr2	UTSW	13	54,874,496 (GRCm39)	missense	probably benign	0.01
R5928:Cdhr2	UTSW	13	54,881,832 (GRCm39)	missense	probably benign	0.01
R6246:Cdhr2	UTSW	13	54,867,523 (GRCm39)	missense	probably damaging	1.00
R6351:Cdhr2	UTSW	13	54,874,589 (GRCm39)	missense	probably benign	0.16
R6358:Cdhr2	UTSW	13	54,884,359 (GRCm39)	missense	probably damaging	0.99
R6433:Cdhr2	UTSW	13	54,866,325 (GRCm39)	missense	probably damaging	0.97
R7044:Cdhr2	UTSW	13	54,881,134 (GRCm39)	nonsense	probably null
R7341:Cdhr2	UTSW	13	54,867,305 (GRCm39)	missense	probably damaging	0.99
R7462:Cdhr2	UTSW	13	54,874,552 (GRCm39)	missense	probably damaging	1.00
R7488:Cdhr2	UTSW	13	54,865,728 (GRCm39)	missense	probably benign	0.28
R7763:Cdhr2	UTSW	13	54,865,505 (GRCm39)	missense	probably damaging	1.00
R7771:Cdhr2	UTSW	13	54,866,088 (GRCm39)	missense	probably damaging	1.00
R8050:Cdhr2	UTSW	13	54,882,035 (GRCm39)	missense	probably damaging	0.96
R8069:Cdhr2	UTSW	13	54,878,883 (GRCm39)	missense	probably damaging	1.00
R8070:Cdhr2	UTSW	13	54,867,606 (GRCm39)	missense	probably benign	0.13
R8129:Cdhr2	UTSW	13	54,864,208 (GRCm39)	splice site	probably null
R8829:Cdhr2	UTSW	13	54,865,930 (GRCm39)	missense	probably damaging	1.00
R8915:Cdhr2	UTSW	13	54,874,184 (GRCm39)	missense	probably benign	0.31
R9050:Cdhr2	UTSW	13	54,883,133 (GRCm39)	missense	probably benign	0.19
R9113:Cdhr2	UTSW	13	54,882,700 (GRCm39)	missense	probably benign	0.22
R9205:Cdhr2	UTSW	13	54,861,801 (GRCm39)	missense	probably benign	0.45
R9281:Cdhr2	UTSW	13	54,881,703 (GRCm39)	missense	possibly damaging	0.78
R9290:Cdhr2	UTSW	13	54,882,009 (GRCm39)	missense	possibly damaging	0.93
R9621:Cdhr2	UTSW	13	54,866,350 (GRCm39)	missense
R9647:Cdhr2	UTSW	13	54,867,394 (GRCm39)	missense	probably benign	0.00
R9697:Cdhr2	UTSW	13	54,867,679 (GRCm39)	missense	probably damaging	1.00
R9736:Cdhr2	UTSW	13	54,872,041 (GRCm39)	missense	possibly damaging	0.84
Z1177:Cdhr2	UTSW	13	54,874,221 (GRCm39)	missense	probably benign	0.00
Z1177:Cdhr2	UTSW	13	54,866,377 (GRCm39)	missense	probably damaging	1.00
Z1177:Cdhr2	UTSW	13	54,863,484 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07