Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01834:Pcdh18'

154877

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 #

IGL01834

Quality Score

Status

Chromosome

Chromosomal Location

49697745-49711723 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49711279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 12 (F12S)

Ref Sequence

ENSEMBL: ENSMUSP00000039245 (fasta)

Gene Model

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

AlphaFold

Q8VHR0

Predicted Effect

probably benign
Transcript: ENSMUST00000035931
AA Change: F12S

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000039245
Gene: ENSMUSG00000037892
AA Change: F12S

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 benign
Transcript: ENSMUST00000191794
AA Change: F12S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000141995
Gene: ENSMUSG00000037892
AA Change: F12S

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	A	G	1: 58,348,183 (GRCm39)	I634V	possibly damaging	Het
Atp13a4	T	G	16: 29,234,595 (GRCm39)		probably benign	Het
BC049715	A	T	6: 136,817,489 (GRCm39)	Q243L	probably benign	Het
C2cd6	G	A	1: 59,036,604 (GRCm39)		probably benign	Het
Cd2ap	C	T	17: 43,137,251 (GRCm39)		probably null	Het
Cd2ap	T	A	17: 43,137,252 (GRCm39)		probably null	Het
Cd86	G	A	16: 36,427,481 (GRCm39)	R283W	probably benign	Het
CK137956	T	A	4: 127,840,442 (GRCm39)	K421N	probably damaging	Het
Coro2b	G	A	9: 62,338,639 (GRCm39)	T193I	possibly damaging	Het
Dido1	G	A	2: 180,325,824 (GRCm39)		probably benign	Het
Fas	A	G	19: 34,296,003 (GRCm39)	T149A	probably benign	Het
Gbp4	T	A	5: 105,273,468 (GRCm39)	I121F	probably damaging	Het
Hes3	C	T	4: 152,371,557 (GRCm39)	A106T	probably damaging	Het
Hyal2	T	C	9: 107,448,105 (GRCm39)	Y253H	probably damaging	Het
Kcnt1	T	C	2: 25,802,731 (GRCm39)		probably null	Het
Klhl12	C	A	1: 134,417,158 (GRCm39)	R557S	probably damaging	Het
Kmt2c	T	C	5: 25,600,453 (GRCm39)	T315A	probably benign	Het
Mchr1	A	G	15: 81,122,066 (GRCm39)	Y272C	probably damaging	Het
Mroh7	T	C	4: 106,538,071 (GRCm39)	I1202V	probably benign	Het
Mrpl38	T	A	11: 116,026,140 (GRCm39)	K87*	probably null	Het
Msh6	A	G	17: 88,293,140 (GRCm39)	T632A	probably damaging	Het
Myo9b	T	C	8: 71,808,962 (GRCm39)	I1767T	probably damaging	Het
Myo9b	C	A	8: 71,807,901 (GRCm39)	H1630Q	possibly damaging	Het
Naprt	A	G	15: 75,765,648 (GRCm39)	F92S	probably damaging	Het
Nsd3	T	A	8: 26,130,668 (GRCm39)	I11N	probably damaging	Het
Or5ae1	A	G	7: 84,565,860 (GRCm39)	Y291C	probably damaging	Het
Otof	T	C	5: 30,556,564 (GRCm39)	T306A	probably damaging	Het
Pcdhb12	A	T	18: 37,570,692 (GRCm39)	N613Y	probably damaging	Het
Polr1a	T	C	6: 71,925,446 (GRCm39)	I731T	probably benign	Het
Ptprd	G	A	4: 76,046,832 (GRCm39)	T465I	probably damaging	Het
Rabgap1	A	G	2: 37,454,773 (GRCm39)		probably benign	Het
Ryr2	T	A	13: 11,610,311 (GRCm39)	I607L	possibly damaging	Het
Slc39a9	G	A	12: 80,720,073 (GRCm39)		probably benign	Het
Srek1	C	A	13: 103,885,293 (GRCm39)		probably benign	Het
Ssb	A	G	2: 69,701,147 (GRCm39)	T377A	possibly damaging	Het
Sympk	G	T	7: 18,777,360 (GRCm39)	A537S	probably benign	Het
Tcf20	A	G	15: 82,739,898 (GRCm39)	S518P	probably damaging	Het
Ttc39d	A	G	17: 80,523,475 (GRCm39)	K45E	probably benign	Het
Vmn1r40	T	C	6: 89,691,554 (GRCm39)	F124L	possibly damaging	Het
Vmn2r69	A	G	7: 85,061,576 (GRCm39)	Y133H	probably damaging	Het
Vmn2r79	A	T	7: 86,686,354 (GRCm39)	E578D	probably benign	Het
Vwf	G	A	6: 125,567,133 (GRCm39)		probably benign	Het
Zbtb11	A	G	16: 55,811,371 (GRCm39)	N510D	probably benign	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
IGL01788:Pcdh18	APN	3	49,710,371 (GRCm39)	nonsense	probably null
IGL01824:Pcdh18	APN	3	49,709,223 (GRCm39)	missense	probably damaging	1.00
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