Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03263:Cdhr2'

414975

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 #

IGL03263

Quality Score

Status

Chromosome

Chromosomal Location

54849276-54884475 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54865926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 277 (T277A)

Ref Sequence

ENSEMBL: ENSMUSP00000043596 (fasta)

Gene Model

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

AlphaFold

E9Q7P9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037145
AA Change: T277A

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000043596
Gene: ENSMUSG00000034918
AA Change: T277A

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	A	5: 138,562,499 (GRCm39)	I81F	probably damaging	Het
Acacb	C	T	5: 114,351,754 (GRCm39)	H1164Y	probably damaging	Het
Adamts5	A	T	16: 85,666,830 (GRCm39)	V554E	probably damaging	Het
Asns	G	A	6: 7,689,404 (GRCm39)	R33C	probably benign	Het
BC051076	T	G	5: 88,111,977 (GRCm39)		noncoding transcript	Het
Bcas3	C	T	11: 85,712,948 (GRCm39)		probably benign	Het
Bpifb1	A	G	2: 154,057,226 (GRCm39)	M395V	probably benign	Het
Cdcp1	C	A	9: 123,009,152 (GRCm39)	V509L	probably benign	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Clca4a	T	A	3: 144,672,192 (GRCm39)	E250V	probably damaging	Het
Cplx4	T	C	18: 66,100,559 (GRCm39)	D79G	probably benign	Het
Dcaf11	A	G	14: 55,802,949 (GRCm39)	D246G	probably damaging	Het
Dnah2	A	T	11: 69,420,207 (GRCm39)		probably null	Het
Dock3	A	T	9: 106,807,330 (GRCm39)		probably benign	Het
Fam170a	T	C	18: 50,413,588 (GRCm39)		probably benign	Het
Fgfr2	T	A	7: 129,782,149 (GRCm39)	M423L	probably benign	Het
Gabra2	A	G	5: 71,130,836 (GRCm39)	F331L	probably damaging	Het
Galnt18	C	T	7: 111,119,321 (GRCm39)	R400Q	probably damaging	Het
H2-M11	A	T	17: 36,859,805 (GRCm39)	Q266L	probably damaging	Het
Igf2bp1	A	T	11: 95,857,499 (GRCm39)	V502D	probably damaging	Het
Ik	A	G	18: 36,881,699 (GRCm39)	N111S	probably damaging	Het
Intu	T	A	3: 40,627,027 (GRCm39)	Y269*	probably null	Het
Krt82	T	C	15: 101,450,307 (GRCm39)	Y463C	probably benign	Het
Lrig1	A	G	6: 94,588,628 (GRCm39)	M507T	probably benign	Het
Lrrc37	A	G	11: 103,504,525 (GRCm39)	V2481A	possibly damaging	Het
Mag	T	G	7: 30,598,953 (GRCm39)		probably null	Het
Map7	T	A	10: 20,121,068 (GRCm39)	Y121*	probably null	Het
Marchf6	A	G	15: 31,486,508 (GRCm39)	I349T	probably benign	Het
Mas1	A	G	17: 13,060,451 (GRCm39)	V324A	possibly damaging	Het
Nckap1l	T	C	15: 103,372,832 (GRCm39)	W259R	probably damaging	Het
Nhsl1	T	A	10: 18,373,827 (GRCm39)	Y164*	probably null	Het
Or52e5	T	A	7: 104,719,209 (GRCm39)	H178Q	probably damaging	Het
Or8b38	A	T	9: 37,973,009 (GRCm39)	Y131F	probably damaging	Het
Pcdhb2	A	G	18: 37,429,059 (GRCm39)	D344G	probably damaging	Het
Pclo	T	C	5: 14,731,824 (GRCm39)	V3442A	unknown	Het
Polr3c	C	T	3: 96,621,567 (GRCm39)		probably benign	Het
Ppp2r2d	C	T	7: 138,474,651 (GRCm39)	R11*	probably null	Het
Ptgfr	T	A	3: 151,541,500 (GRCm39)	M3L	probably benign	Het
Rfx6	A	G	10: 51,601,903 (GRCm39)	S741G	probably benign	Het
Rif1	T	C	2: 51,980,273 (GRCm39)	V490A	probably damaging	Het
Samd7	T	A	3: 30,816,302 (GRCm39)	H349Q	probably damaging	Het
Sh3pxd2a	T	C	19: 47,302,482 (GRCm39)	N199S	probably damaging	Het
Spef2	T	A	15: 9,667,305 (GRCm39)	K794N	possibly damaging	Het
Spta1	C	T	1: 174,041,484 (GRCm39)	A1316V	probably damaging	Het
Vwa7	A	G	17: 35,240,575 (GRCm39)	E410G	probably benign	Het
Washc2	T	A	6: 116,215,084 (GRCm39)		probably benign	Het
Wdr72	A	C	9: 74,064,711 (GRCm39)	Y581S	probably damaging	Het
Zdhhc17	T	C	10: 110,796,877 (GRCm39)	D298G	probably damaging	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
IGL02005:Cdhr2	APN	13	54,867,576 (GRCm39)	missense	probably benign	0.00
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
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

2016-08-02