Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01788:Pcdh18'

155142

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcdh18

Ensembl Gene

ENSMUSG00000037892

Gene Name

protocadherin 18

Synonyms

PCDH68L

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01788

Quality Score

Status

Chromosome

Chromosomal Location

49697745-49711723 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 49710371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 315 (E315*)

Ref Sequence

ENSEMBL: ENSMUSP00000141995 (fasta)

Gene Model

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

AlphaFold

Q8VHR0

Predicted Effect

probably null
Transcript: ENSMUST00000035931
AA Change: E315*

SMART Domains

Protein: ENSMUSP00000039245
Gene: ENSMUSG00000037892
AA Change: E315*

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: E315*

SMART Domains

Protein: ENSMUSP00000141995
Gene: ENSMUSG00000037892
AA Change: E315*

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 benign
Transcript: ENSMUST00000194603

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195086

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 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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230009I02Rik	T	G	11: 50,982,542 (GRCm39)		noncoding transcript	Het
Acp6	A	G	3: 97,073,198 (GRCm39)	T80A	probably damaging	Het
Adamtsl5	T	C	10: 80,180,757 (GRCm39)	T102A	probably benign	Het
Adcy6	C	A	15: 98,494,400 (GRCm39)	E812*	probably null	Het
Apol6	G	A	15: 76,935,216 (GRCm39)	V162I	possibly damaging	Het
Atp6v1h	T	A	1: 5,220,206 (GRCm39)	M396K	possibly damaging	Het
B3gnt8	A	G	7: 25,328,613 (GRCm39)	T348A	probably damaging	Het
Cgnl1	A	G	9: 71,562,672 (GRCm39)	V869A	probably benign	Het
Dcaf5	A	T	12: 80,395,098 (GRCm39)	I357N	probably damaging	Het
Dennd4a	A	G	9: 64,749,903 (GRCm39)	I165V	probably benign	Het
Dlgap2	T	A	8: 14,893,631 (GRCm39)	I982K	probably benign	Het
Dop1a	A	T	9: 86,413,772 (GRCm39)	H1891L	probably benign	Het
Fhad1	A	C	4: 141,660,113 (GRCm39)	S65R	probably benign	Het
Fn1	A	G	1: 71,652,996 (GRCm39)	I1331T	probably damaging	Het
Fto	A	T	8: 92,136,359 (GRCm39)	Y211F	probably benign	Het
Gm3278	A	C	14: 16,080,370 (GRCm39)	R60S	probably benign	Het
Ifna9	A	G	4: 88,510,097 (GRCm39)	S176P	probably damaging	Het
Klk1	T	C	7: 43,878,407 (GRCm39)	I189T	probably benign	Het
Mcph1	G	A	8: 18,682,419 (GRCm39)	G519R	probably damaging	Het
Mcph1	G	A	8: 18,682,420 (GRCm39)	G519E	probably damaging	Het
N4bp1	A	T	8: 87,587,624 (GRCm39)	V438E	probably benign	Het
Ncapg	T	A	5: 45,828,423 (GRCm39)	V58E	probably damaging	Het
Nid2	T	A	14: 19,858,047 (GRCm39)	S1054T	probably damaging	Het
Nlrp4a	A	T	7: 26,153,492 (GRCm39)	Y681F	probably benign	Het
Or4f57	T	C	2: 111,791,352 (GRCm39)	D22G	probably benign	Het
Or4k15c	A	G	14: 50,321,959 (GRCm39)	Y60H	probably damaging	Het
Or52e19b	C	A	7: 103,032,770 (GRCm39)	M146I	probably benign	Het
Or5b94	G	A	19: 12,652,442 (GRCm39)	R291K	probably damaging	Het
Papln	A	T	12: 83,822,236 (GRCm39)	T364S	probably benign	Het
Pmel	G	A	10: 128,553,701 (GRCm39)	R445Q	probably damaging	Het
Ppp1r12b	C	T	1: 134,821,245 (GRCm39)	V182I	possibly damaging	Het
Ptprn2	A	G	12: 116,864,607 (GRCm39)	T541A	probably damaging	Het
Rbl1	A	T	2: 157,005,576 (GRCm39)	N813K	probably benign	Het
Sash1	C	A	10: 8,609,410 (GRCm39)	R713L	probably benign	Het
Slc13a1	T	G	6: 24,134,371 (GRCm39)	T171P	probably damaging	Het
Slc18b1	G	T	10: 23,701,899 (GRCm39)	E407D	probably damaging	Het
Slc2a6	G	A	2: 26,914,227 (GRCm39)	Q297*	probably null	Het
Vmn1r209	T	C	13: 22,989,832 (GRCm39)	H286R	probably damaging	Het
Vmn1r28	C	A	6: 58,242,522 (GRCm39)	H122N	probably benign	Het
Wfs1	A	G	5: 37,125,980 (GRCm39)	Y304H	probably benign	Het
Zfp512b	A	G	2: 181,230,556 (GRCm39)	S445P	possibly damaging	Het

Other mutations in Pcdh18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00543:Pcdh18	APN	3	49,707,828 (GRCm39)	missense	probably damaging	1.00
IGL00639:Pcdh18	APN	3	49,710,065 (GRCm39)	missense	probably benign	0.34
IGL00954:Pcdh18	APN	3	49,710,838 (GRCm39)	missense	probably damaging	1.00
IGL01338:Pcdh18	APN	3	49,710,590 (GRCm39)	missense	probably damaging	1.00
IGL01339:Pcdh18	APN	3	49,710,247 (GRCm39)	missense	probably benign	0.35
IGL01687:Pcdh18	APN	3	49,707,982 (GRCm39)	splice site	probably benign
IGL01727:Pcdh18	APN	3	49,710,149 (GRCm39)	missense	probably damaging	0.99
IGL01824:Pcdh18	APN	3	49,709,223 (GRCm39)	missense	probably damaging	1.00
IGL01834:Pcdh18	APN	3	49,711,279 (GRCm39)	missense	probably benign	0.03
IGL01913:Pcdh18	APN	3	49,709,698 (GRCm39)	missense	possibly damaging	0.94
IGL01915:Pcdh18	APN	3	49,699,370 (GRCm39)	missense	probably benign
IGL02095:Pcdh18	APN	3	49,710,605 (GRCm39)	missense	probably benign	0.01
IGL02128:Pcdh18	APN	3	49,711,135 (GRCm39)	missense	possibly damaging	0.65
IGL02302:Pcdh18	APN	3	49,710,387 (GRCm39)	missense	probably benign
IGL02342:Pcdh18	APN	3	49,710,493 (GRCm39)	missense	probably damaging	1.00
IGL02440:Pcdh18	APN	3	49,699,052 (GRCm39)	utr 3 prime	probably benign
IGL02499:Pcdh18	APN	3	49,707,896 (GRCm39)	missense	probably benign	0.15
IGL02570:Pcdh18	APN	3	49,711,074 (GRCm39)	missense	probably benign	0.02
IGL02745:Pcdh18	APN	3	49,710,340 (GRCm39)	missense	probably damaging	1.00
IGL03073:Pcdh18	APN	3	49,707,816 (GRCm39)	missense	possibly damaging	0.93
PIT4469001:Pcdh18	UTSW	3	49,709,518 (GRCm39)	missense	probably benign
R0078:Pcdh18	UTSW	3	49,710,793 (GRCm39)	missense	probably damaging	1.00
R0196:Pcdh18	UTSW	3	49,711,147 (GRCm39)	splice site	probably null
R0524:Pcdh18	UTSW	3	49,710,091 (GRCm39)	missense	probably damaging	0.98
R0661:Pcdh18	UTSW	3	49,707,767 (GRCm39)	missense	possibly damaging	0.64
R0900:Pcdh18	UTSW	3	49,711,252 (GRCm39)	missense	probably benign	0.25
R1101:Pcdh18	UTSW	3	49,707,828 (GRCm39)	missense	probably damaging	1.00
R1463:Pcdh18	UTSW	3	49,709,854 (GRCm39)	missense	probably damaging	0.99
R1778:Pcdh18	UTSW	3	49,710,083 (GRCm39)	missense	probably benign	0.19
R1850:Pcdh18	UTSW	3	49,710,854 (GRCm39)	missense	probably benign	0.22
R1875:Pcdh18	UTSW	3	49,709,154 (GRCm39)	missense	probably damaging	0.99
R1903:Pcdh18	UTSW	3	49,709,896 (GRCm39)	missense	probably benign
R1956:Pcdh18	UTSW	3	49,710,400 (GRCm39)	missense	probably benign
R2044:Pcdh18	UTSW	3	49,709,389 (GRCm39)	missense	probably benign
R2303:Pcdh18	UTSW	3	49,709,723 (GRCm39)	missense	probably damaging	1.00
R3732:Pcdh18	UTSW	3	49,709,240 (GRCm39)	missense	probably benign
R3732:Pcdh18	UTSW	3	49,709,240 (GRCm39)	missense	probably benign
R3733:Pcdh18	UTSW	3	49,709,240 (GRCm39)	missense	probably benign
R3973:Pcdh18	UTSW	3	49,709,035 (GRCm39)	missense	probably damaging	1.00
R4281:Pcdh18	UTSW	3	49,710,982 (GRCm39)	missense	possibly damaging	0.76
R4601:Pcdh18	UTSW	3	49,699,174 (GRCm39)	missense	probably damaging	1.00
R4631:Pcdh18	UTSW	3	49,710,890 (GRCm39)	missense	probably damaging	0.99
R4752:Pcdh18	UTSW	3	49,709,563 (GRCm39)	missense	probably damaging	1.00
R4840:Pcdh18	UTSW	3	49,699,117 (GRCm39)	missense	probably damaging	0.98
R4867:Pcdh18	UTSW	3	49,709,113 (GRCm39)	missense	probably damaging	1.00
R5007:Pcdh18	UTSW	3	49,708,906 (GRCm39)	missense	probably benign	0.23
R5039:Pcdh18	UTSW	3	49,709,305 (GRCm39)	missense	probably benign
R5169:Pcdh18	UTSW	3	49,710,415 (GRCm39)	missense	possibly damaging	0.65
R5438:Pcdh18	UTSW	3	49,710,465 (GRCm39)	nonsense	probably null
R5579:Pcdh18	UTSW	3	49,699,426 (GRCm39)	missense	probably damaging	1.00
R6000:Pcdh18	UTSW	3	49,708,913 (GRCm39)	missense	probably damaging	0.99
R6220:Pcdh18	UTSW	3	49,699,700 (GRCm39)	missense	probably damaging	1.00
R6737:Pcdh18	UTSW	3	49,710,344 (GRCm39)	missense	probably damaging	0.98
R6789:Pcdh18	UTSW	3	49,710,364 (GRCm39)	missense	probably benign	0.00
R7011:Pcdh18	UTSW	3	49,709,231 (GRCm39)	missense	probably benign
R7146:Pcdh18	UTSW	3	49,710,271 (GRCm39)	missense	probably damaging	1.00
R7150:Pcdh18	UTSW	3	49,709,143 (GRCm39)	missense	probably benign	0.31
R7205:Pcdh18	UTSW	3	49,709,923 (GRCm39)	missense	probably benign
R7326:Pcdh18	UTSW	3	49,711,309 (GRCm39)	missense	probably benign
R7413:Pcdh18	UTSW	3	49,699,232 (GRCm39)	missense	possibly damaging	0.94
R7755:Pcdh18	UTSW	3	49,709,278 (GRCm39)	missense	possibly damaging	0.59
R7848:Pcdh18	UTSW	3	49,710,446 (GRCm39)	missense	possibly damaging	0.54
R8169:Pcdh18	UTSW	3	49,699,684 (GRCm39)	missense	probably damaging	1.00
R8264:Pcdh18	UTSW	3	49,711,030 (GRCm39)	missense	probably damaging	1.00
R8352:Pcdh18	UTSW	3	49,699,624 (GRCm39)	missense	possibly damaging	0.81
R8406:Pcdh18	UTSW	3	49,710,998 (GRCm39)	missense	probably damaging	1.00
R8452:Pcdh18	UTSW	3	49,699,624 (GRCm39)	missense	possibly damaging	0.81
R8489:Pcdh18	UTSW	3	49,709,038 (GRCm39)	missense	probably damaging	1.00
R8526:Pcdh18	UTSW	3	49,710,023 (GRCm39)	missense	probably damaging	1.00
R9075:Pcdh18	UTSW	3	49,699,339 (GRCm39)	missense	probably benign
R9285:Pcdh18	UTSW	3	49,707,786 (GRCm39)	missense	probably damaging	0.97
R9316:Pcdh18	UTSW	3	49,709,089 (GRCm39)	missense	probably damaging	1.00
R9339:Pcdh18	UTSW	3	49,709,335 (GRCm39)	missense	probably damaging	1.00
R9410:Pcdh18	UTSW	3	49,699,615 (GRCm39)	missense	probably damaging	1.00
R9425:Pcdh18	UTSW	3	49,709,051 (GRCm39)	missense	possibly damaging	0.81
R9432:Pcdh18	UTSW	3	49,699,667 (GRCm39)	missense	probably damaging	0.96
R9547:Pcdh18	UTSW	3	49,709,506 (GRCm39)	missense	possibly damaging	0.79
R9567:Pcdh18	UTSW	3	49,710,884 (GRCm39)	missense	possibly damaging	0.95
R9622:Pcdh18	UTSW	3	49,711,229 (GRCm39)	missense	probably benign	0.20
R9687:Pcdh18	UTSW	3	49,711,036 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-02-04