Mutagenetix > Incidental Mutations

Incidental Mutation 'R0196:Pcdh18'

23417

Institutional Source

Beutler Lab

Gene Symbol

Pcdh18

Ensembl Gene

ENSMUSG00000037892

Gene Name

protocadherin 18

Synonyms

PCDH68L

MMRRC Submission

038455-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0196 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49743296-49757325 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 49756698 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035931] [ENSMUST00000191794]

Predicted Effect

probably null
Transcript: ENSMUST00000035931
AA Change: L56*

SMART Domains

Protein: ENSMUSP00000039245
Gene: ENSMUSG00000037892
AA Change: L56*

Domain	Start	End	E-Value	Type
low complexity region	12	21	N/A	INTRINSIC
CA	51	135	1.36e-1	SMART
CA	159	244	3.78e-20	SMART
CA	268	352	1.12e-22	SMART
CA	382	463	5.76e-25	SMART
CA	487	574	2.51e-25	SMART
CA	603	684	8e-3	SMART
transmembrane domain	698	720	N/A	INTRINSIC
low complexity region	772	783	N/A	INTRINSIC
low complexity region	988	1009	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000191794
AA Change: L56*

SMART Domains

Protein: ENSMUSP00000141995
Gene: ENSMUSG00000037892
AA Change: L56*

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
CA	51	135	6.6e-4	SMART
CA	159	244	1.9e-22	SMART
CA	268	352	5.6e-25	SMART
CA	382	463	2.7e-27	SMART
CA	487	574	1.2e-27	SMART
CA	603	684	3.9e-5	SMART
transmembrane domain	698	720	N/A	INTRINSIC
low complexity region	772	783	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193600

Predicted Effect

probably null
Transcript: ENSMUST00000194603

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195086

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 93.8%
20x: 81.8%

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 protocadherin gene family, a subfamily of the cadherin superfamily. This gene encodes a protein which contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. Although its specific function is undetermined, the cadherin-related neuronal receptor is thought to play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,616,247		probably benign	Het
Aass	G	A	6: 23,109,520	P317L	probably damaging	Het
Abca12	T	A	1: 71,259,813	N2313I	possibly damaging	Het
Adamts12	T	C	15: 11,071,508	I46T	probably benign	Het
Adipoq	T	G	16: 23,146,643		probably null	Het
Amy1	A	T	3: 113,569,421	D92E	probably benign	Het
Asb15	G	A	6: 24,564,393	R282Q	probably damaging	Het
Bag6	G	C	17: 35,144,263	G693A	probably damaging	Het
Birc6	T	C	17: 74,580,287	I870T	possibly damaging	Het
Cand2	A	G	6: 115,789,502	K356R	probably damaging	Het
Cbfa2t3	T	C	8: 122,633,337	Q525R	possibly damaging	Het
Ccdc94	C	A	17: 55,964,653	D191E	probably damaging	Het
Cd4	T	C	6: 124,867,806	R339G	probably damaging	Het
Cdh8	A	G	8: 99,190,434	S350P	probably damaging	Het
Cep295	A	T	9: 15,338,213	S469T	probably damaging	Het
Ckap2l	A	T	2: 129,285,422	S279T	probably benign	Het
Clnk	T	A	5: 38,769,939	N66Y	probably damaging	Het
Col27a1	A	T	4: 63,224,266	T64S	probably benign	Het
Crtc1	T	C	8: 70,386,221	D599G	probably damaging	Het
Cyp2c23	A	C	19: 44,012,356	I363S	probably damaging	Het
Dnah10	A	T	5: 124,834,075	I4519F	possibly damaging	Het
Dner	T	A	1: 84,370,832	I716F	probably damaging	Het
Dsel	T	G	1: 111,861,603	T401P	possibly damaging	Het
Egfr	A	G	11: 16,911,746	D1175G	probably benign	Het
Ephb3	A	T	16: 21,218,054	N343I	probably damaging	Het
Fbxw10	T	A	11: 62,877,244	F974I	probably benign	Het
Gfi1b	T	C	2: 28,613,774	Y138C	probably damaging	Het
Gm11168	T	A	9: 3,005,175	L6H	probably benign	Het
Grb10	A	C	11: 11,945,583	V247G	probably damaging	Het
Gstp2	A	T	19: 4,040,514		probably null	Het
Hars2	C	T	18: 36,789,204	Q291*	probably null	Het
Hyal4	G	T	6: 24,756,221	W146L	probably damaging	Het
Il22ra1	C	T	4: 135,734,245	T107I	possibly damaging	Het
Itga8	A	G	2: 12,204,729		probably null	Het
Klhl25	T	C	7: 75,865,702	S119P	probably damaging	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Lrrc8c	T	C	5: 105,606,770	V137A	probably benign	Het
Macrod2	A	T	2: 142,176,625	E226V	probably damaging	Het
Mcemp1	A	T	8: 3,668,201	Q165L	probably benign	Het
Mcpt9	T	A	14: 56,027,996	K82M	probably benign	Het
Mpzl3	A	G	9: 45,062,160	T66A	probably damaging	Het
Msh6	G	A	17: 87,980,360	V143I	possibly damaging	Het
Mug1	G	A	6: 121,838,725		probably null	Het
Ncr1	G	T	7: 4,340,973	C153F	probably damaging	Het
Nf1	T	A	11: 79,468,769	M1411K	possibly damaging	Het
Nf1	T	A	11: 79,578,272	V786D	probably damaging	Het
Nisch	T	C	14: 31,203,394		probably benign	Het
Nwd2	T	A	5: 63,806,351	Y1093N	probably benign	Het
Oas3	G	A	5: 120,756,145	R39C	probably damaging	Het
Olfr1352	C	T	10: 78,984,189	T133I	possibly damaging	Het
Olfr392	A	T	11: 73,814,905	M59K	probably damaging	Het
Oxa1l	T	C	14: 54,363,487	I139T	probably damaging	Het
P3h3	T	A	6: 124,845,272	N583Y	probably damaging	Het
Pcnp	C	T	16: 56,024,533		probably benign	Het
Pdzd8	G	T	19: 59,301,131	D612E	probably benign	Het
Pi4kb	T	C	3: 94,998,950	S8P	probably damaging	Het
Pikfyve	T	G	1: 65,256,072	V1454G	possibly damaging	Het
Podn	T	C	4: 108,021,498	N246D	probably damaging	Het
Prg4	T	C	1: 150,454,492		probably benign	Het
R3hdm2	T	C	10: 127,484,521	Y523H	probably damaging	Het
Rpf1	T	A	3: 146,508,149	E231V	possibly damaging	Het
Slc16a10	C	T	10: 40,056,615	E317K	probably benign	Het
Slc34a1	A	T	13: 55,412,265	I435F	probably damaging	Het
Snx19	A	G	9: 30,433,387	D629G	probably damaging	Het
Tomm70a	T	C	16: 57,146,100	I472T	probably benign	Het
Trp53	A	G	11: 69,588,680	Y202C	probably damaging	Het
Ttc14	T	A	3: 33,809,254		probably benign	Het
Ugt1a1	C	T	1: 88,212,555	A185V	possibly damaging	Het
Usp28	A	G	9: 49,028,278	D655G	probably damaging	Het
Vmn1r215	C	T	13: 23,076,084	T98I	probably damaging	Het
Vmn2r121	G	T	X: 124,132,182	T426N	probably benign	Het
Vmn2r99	A	G	17: 19,394,573	N852D	probably benign	Het
Xrn2	T	A	2: 147,047,660	D654E	probably damaging	Het
Zfp335	C	G	2: 164,896,145	A849P	possibly damaging	Het
Zfp954	C	T	7: 7,115,391	V385M	probably damaging	Het
Zmynd15	A	G	11: 70,464,226	T350A	probably damaging	Het

Other mutations in Pcdh18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00543:Pcdh18	APN	3	49753379	missense	probably damaging	1.00
IGL00639:Pcdh18	APN	3	49755616	missense	probably benign	0.34
IGL00954:Pcdh18	APN	3	49756389	missense	probably damaging	1.00
IGL01338:Pcdh18	APN	3	49756141	missense	probably damaging	1.00
IGL01339:Pcdh18	APN	3	49755798	missense	probably benign	0.35
IGL01687:Pcdh18	APN	3	49753533	splice site	probably benign
IGL01727:Pcdh18	APN	3	49755700	missense	probably damaging	0.99
IGL01788:Pcdh18	APN	3	49755922	nonsense	probably null
IGL01824:Pcdh18	APN	3	49754774	missense	probably damaging	1.00
IGL01834:Pcdh18	APN	3	49756830	missense	probably benign	0.03
IGL01913:Pcdh18	APN	3	49755249	missense	possibly damaging	0.94
IGL01915:Pcdh18	APN	3	49744921	missense	probably benign
IGL02095:Pcdh18	APN	3	49756156	missense	probably benign	0.01
IGL02128:Pcdh18	APN	3	49756686	missense	possibly damaging	0.65
IGL02302:Pcdh18	APN	3	49755938	missense	probably benign
IGL02342:Pcdh18	APN	3	49756044	missense	probably damaging	1.00
IGL02440:Pcdh18	APN	3	49744603	utr 3 prime	probably benign
IGL02499:Pcdh18	APN	3	49753447	missense	probably benign	0.15
IGL02570:Pcdh18	APN	3	49756625	missense	probably benign	0.02
IGL02745:Pcdh18	APN	3	49755891	missense	probably damaging	1.00
IGL03073:Pcdh18	APN	3	49753367	missense	possibly damaging	0.93
PIT4469001:Pcdh18	UTSW	3	49755069	missense	probably benign
R0078:Pcdh18	UTSW	3	49756344	missense	probably damaging	1.00
R0524:Pcdh18	UTSW	3	49755642	missense	probably damaging	0.98
R0661:Pcdh18	UTSW	3	49753318	missense	possibly damaging	0.64
R0900:Pcdh18	UTSW	3	49756803	missense	probably benign	0.25
R1101:Pcdh18	UTSW	3	49753379	missense	probably damaging	1.00
R1463:Pcdh18	UTSW	3	49755405	missense	probably damaging	0.99
R1778:Pcdh18	UTSW	3	49755634	missense	probably benign	0.19
R1850:Pcdh18	UTSW	3	49756405	missense	probably benign	0.22
R1875:Pcdh18	UTSW	3	49754705	missense	probably damaging	0.99
R1903:Pcdh18	UTSW	3	49755447	missense	probably benign
R1956:Pcdh18	UTSW	3	49755951	missense	probably benign
R2044:Pcdh18	UTSW	3	49754940	missense	probably benign
R2303:Pcdh18	UTSW	3	49755274	missense	probably damaging	1.00
R3732:Pcdh18	UTSW	3	49754791	missense	probably benign
R3732:Pcdh18	UTSW	3	49754791	missense	probably benign
R3733:Pcdh18	UTSW	3	49754791	missense	probably benign
R3973:Pcdh18	UTSW	3	49754586	missense	probably damaging	1.00
R4281:Pcdh18	UTSW	3	49756533	missense	possibly damaging	0.76
R4601:Pcdh18	UTSW	3	49744725	missense	probably damaging	1.00
R4631:Pcdh18	UTSW	3	49756441	missense	probably damaging	0.99
R4752:Pcdh18	UTSW	3	49755114	missense	probably damaging	1.00
R4840:Pcdh18	UTSW	3	49744668	missense	probably damaging	0.98
R4867:Pcdh18	UTSW	3	49754664	missense	probably damaging	1.00
R5007:Pcdh18	UTSW	3	49754457	missense	probably benign	0.23
R5039:Pcdh18	UTSW	3	49754856	missense	probably benign
R5169:Pcdh18	UTSW	3	49755966	missense	possibly damaging	0.65
R5438:Pcdh18	UTSW	3	49756016	nonsense	probably null
R5579:Pcdh18	UTSW	3	49744977	missense	probably damaging	1.00
R6000:Pcdh18	UTSW	3	49754464	missense	probably damaging	0.99
R6220:Pcdh18	UTSW	3	49745251	missense	probably damaging	1.00
R6737:Pcdh18	UTSW	3	49755895	missense	probably damaging	0.98
R6789:Pcdh18	UTSW	3	49755915	missense	probably benign	0.00
R7011:Pcdh18	UTSW	3	49754782	missense	probably benign
R7146:Pcdh18	UTSW	3	49755822	missense	probably damaging	1.00
R7150:Pcdh18	UTSW	3	49754694	missense	probably benign	0.31
R7205:Pcdh18	UTSW	3	49755474	missense	probably benign
R7326:Pcdh18	UTSW	3	49756860	missense	probably benign
R7413:Pcdh18	UTSW	3	49744783	missense	possibly damaging	0.94
R7755:Pcdh18	UTSW	3	49754829	missense	possibly damaging	0.59
R7848:Pcdh18	UTSW	3	49755997	missense	possibly damaging	0.54
R8169:Pcdh18	UTSW	3	49745235	missense	probably damaging	1.00
R8264:Pcdh18	UTSW	3	49756581	missense	probably damaging	1.00
R8352:Pcdh18	UTSW	3	49745175	missense	possibly damaging	0.81
R8406:Pcdh18	UTSW	3	49756549	missense	probably damaging	1.00
R8452:Pcdh18	UTSW	3	49745175	missense	possibly damaging	0.81
R8489:Pcdh18	UTSW	3	49754589	missense	probably damaging	1.00
R8526:Pcdh18	UTSW	3	49755574	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCGGCAGAGTGAGCACATCAAAC -3'
(R):5'- GAAGGGATTGCTGGGCTCTTCTAAC -3'

Sequencing Primer
(F):5'- GAGTGAGCACATCAAACTCTATCG -3'
(R):5'- TTCTAACTCGCCCTGAGAAGG -3'

Posted On

2013-04-16