Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02877:Cdhr2'

362659

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 #

IGL02877

Quality Score

Status

Chromosome

Chromosomal Location

54849276-54884475 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 54882550 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1199 (T1199S)

Ref Sequence

ENSEMBL: ENSMUSP00000043596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037145] [ENSMUST00000099506] [ENSMUST00000135343]

AlphaFold

E9Q7P9

Predicted Effect

probably benign
Transcript: ENSMUST00000037145
AA Change: T1199S

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000043596
Gene: ENSMUSG00000034918
AA Change: T1199S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000099506

SMART Domains

Protein: ENSMUSP00000097106
Gene: ENSMUSG00000069227

Domain	Start	End	E-Value	Type
low complexity region	31	43	N/A	INTRINSIC
internal_repeat_1	80	256	2.14e-7	PROSPERO
internal_repeat_2	95	267	4.89e-7	PROSPERO
low complexity region	314	324	N/A	INTRINSIC
low complexity region	424	443	N/A	INTRINSIC
internal_repeat_2	448	620	4.89e-7	PROSPERO
internal_repeat_1	457	643	2.14e-7	PROSPERO
low complexity region	684	703	N/A	INTRINSIC
low complexity region	758	773	N/A	INTRINSIC
Pfam:GRIN_C	790	929	4.2e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135343

SMART Domains

Protein: ENSMUSP00000115539
Gene: ENSMUSG00000069227

Domain	Start	End	E-Value	Type
low complexity region	31	43	N/A	INTRINSIC
internal_repeat_1	80	256	2.14e-7	PROSPERO
internal_repeat_2	95	267	4.89e-7	PROSPERO
low complexity region	314	324	N/A	INTRINSIC
low complexity region	424	443	N/A	INTRINSIC
internal_repeat_2	448	620	4.89e-7	PROSPERO
internal_repeat_1	457	643	2.14e-7	PROSPERO
low complexity region	684	703	N/A	INTRINSIC
low complexity region	758	773	N/A	INTRINSIC
Pfam:GRIN_C	787	932	2.6e-49	PFAM

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,078,875 (GRCm39)	Y712*	probably null	Het
Adcy5	A	G	16: 35,118,970 (GRCm39)	D1107G	probably damaging	Het
Ankhd1	C	A	18: 36,727,876 (GRCm39)	T504K	probably damaging	Het
Asb18	C	T	1: 89,880,533 (GRCm39)	C160Y	possibly damaging	Het
Capn13	A	G	17: 73,629,050 (GRCm39)	S586P	probably damaging	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Cnot8	A	G	11: 58,002,228 (GRCm39)	E87G	probably benign	Het
Crnkl1	C	A	2: 145,762,591 (GRCm39)	E525*	probably null	Het
Eif2d	T	C	1: 131,092,854 (GRCm39)		probably benign	Het
Flywch1	A	G	17: 23,979,388 (GRCm39)	S416P	probably damaging	Het
Glcci1	T	C	6: 8,582,757 (GRCm39)	S373P	probably damaging	Het
Gli3	A	G	13: 15,899,327 (GRCm39)	R905G	probably damaging	Het
Hcn4	T	C	9: 58,766,450 (GRCm39)	V706A	unknown	Het
Ift74	T	C	4: 94,513,018 (GRCm39)		probably null	Het
Ighv8-6	A	T	12: 115,129,700 (GRCm39)	S19T	probably damaging	Het
Knl1	T	A	2: 118,919,312 (GRCm39)	N1821K	probably benign	Het
Msx1	G	A	5: 37,981,344 (GRCm39)	P112S	possibly damaging	Het
Nes	A	G	3: 87,882,968 (GRCm39)	D409G	probably benign	Het
Nsmf	A	T	2: 24,945,968 (GRCm39)	I152F	possibly damaging	Het
Nt5c1a	T	A	4: 123,109,867 (GRCm39)	I322N	probably damaging	Het
Or7g27	T	C	9: 19,250,497 (GRCm39)	V247A	possibly damaging	Het
Pnpla8	A	G	12: 44,330,248 (GRCm39)	T49A	probably benign	Het
Ptx3	A	G	3: 66,132,196 (GRCm39)	Y239C	probably damaging	Het
Rarg	G	T	15: 102,150,374 (GRCm39)		probably null	Het
Slc33a1	G	A	3: 63,850,806 (GRCm39)	T506I	probably benign	Het
Spem2	T	G	11: 69,708,521 (GRCm39)	H148P	probably benign	Het
Trim24	A	G	6: 37,942,581 (GRCm39)	D961G	probably damaging	Het
Vmn2r14	G	A	5: 109,368,054 (GRCm39)	H313Y	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
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

2015-12-18