Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02183:Pcdh9'

284331

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcdh9

Ensembl Gene

ENSMUSG00000055421

Gene Name

protocadherin 9

Synonyms

C630029H24Rik, A730003J17Rik, C530050I23Rik, LOC382930, 1500001L12Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.280) question?

Stock #

IGL02183

Quality Score

Status

Chromosome

Chromosomal Location

93013410-93890679 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93886284 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 817 (I817V)

Ref Sequence

ENSEMBL: ENSMUSP00000141396 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068992] [ENSMUST00000192221] [ENSMUST00000193901] [ENSMUST00000194056] [ENSMUST00000195376] [ENSMUST00000195826]

AlphaFold

F8VPK8

Predicted Effect

probably benign
Transcript: ENSMUST00000068992
AA Change: I817V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000070935
Gene: ENSMUSG00000055421
AA Change: I817V

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CA	49	140	8.37e-3	SMART
CA	164	250	1.01e-20	SMART
CA	274	356	2.34e-25	SMART
CA	386	467	2.14e-19	SMART
CA	491	570	4.27e-28	SMART
CA	594	673	2.45e-28	SMART
CA	700	782	1.01e-6	SMART
transmembrane domain	814	836	N/A	INTRINSIC
low complexity region	858	883	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192221
AA Change: I694V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000142260
Gene: ENSMUSG00000055421
AA Change: I694V

Domain	Start	End	E-Value	Type
CA	41	127	1.01e-20	SMART
CA	151	233	2.34e-25	SMART
CA	263	344	2.14e-19	SMART
CA	368	447	4.27e-28	SMART
CA	471	550	2.45e-28	SMART
CA	577	659	1.01e-6	SMART
transmembrane domain	691	713	N/A	INTRINSIC
low complexity region	735	760	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192817

Predicted Effect

probably benign
Transcript: ENSMUST00000193901
AA Change: I817V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000141759
Gene: ENSMUSG00000055421
AA Change: I817V

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CA	49	140	8.37e-3	SMART
CA	164	250	1.01e-20	SMART
CA	274	356	2.34e-25	SMART
CA	386	467	2.14e-19	SMART
CA	491	570	4.27e-28	SMART
CA	594	673	2.45e-28	SMART
CA	700	782	1.01e-6	SMART
transmembrane domain	814	836	N/A	INTRINSIC
low complexity region	858	883	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194056
AA Change: I817V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000141602
Gene: ENSMUSG00000055421
AA Change: I817V

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CA	49	140	4.1e-5	SMART
CA	164	250	4.8e-23	SMART
CA	274	356	1.2e-27	SMART
CA	386	467	1.1e-21	SMART
CA	491	570	2e-30	SMART
CA	594	673	1.2e-30	SMART
CA	700	782	4.9e-9	SMART
transmembrane domain	814	836	N/A	INTRINSIC
low complexity region	860	873	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194129

Predicted Effect

probably benign
Transcript: ENSMUST00000195376
AA Change: I817V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000142224
Gene: ENSMUSG00000055421
AA Change: I817V

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CA	49	140	4.1e-5	SMART
CA	164	250	4.8e-23	SMART
CA	274	356	1.2e-27	SMART
CA	386	467	1.1e-21	SMART
CA	491	570	2e-30	SMART
CA	594	673	1.2e-30	SMART
CA	700	782	4.9e-9	SMART
transmembrane domain	814	836	N/A	INTRINSIC
low complexity region	858	883	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000195826
AA Change: I817V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000141396
Gene: ENSMUSG00000055421
AA Change: I817V

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CA	49	140	8.37e-3	SMART
CA	164	250	1.01e-20	SMART
CA	274	356	2.34e-25	SMART
CA	386	467	2.14e-19	SMART
CA	491	570	4.27e-28	SMART
CA	594	673	2.45e-28	SMART
CA	700	782	1.01e-6	SMART
transmembrane domain	814	836	N/A	INTRINSIC
low complexity region	858	883	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the protocadherin family, and cadherin superfamily, of transmembrane proteins containing cadherin domains. These proteins mediate cell adhesion in neural tissues in the presence of calcium. The encoded protein may be involved in signaling at neuronal synaptic junctions. Sharing a characteristic with other protocadherin genes, this gene has a notably large exon that encodes multiple cadherin domains and a transmembrane region. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired long-term social and bject recognition and sensorimotor development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	G	A	1: 37,625,378	P480S	possibly damaging	Het
Ace2	T	A	X: 164,177,469		probably benign	Het
Acsm4	A	T	7: 119,693,852		probably null	Het
Apcdd1	T	C	18: 62,951,854	M374T	probably damaging	Het
Arid4b	A	G	13: 14,169,990	E551G	possibly damaging	Het
Bag4	A	T	8: 25,768,030	L423Q	probably damaging	Het
Celf1	C	T	2: 91,001,486	P96S	probably damaging	Het
Cry2	G	A	2: 92,413,039	R486W	probably damaging	Het
Csn1s1	G	A	5: 87,677,618	S228N	possibly damaging	Het
Ctnnd2	A	G	15: 31,020,740	Y1124C	probably damaging	Het
Cyp2j7	T	C	4: 96,230,147		probably benign	Het
Dock7	A	T	4: 98,958,991	C1695S	possibly damaging	Het
Elmo3	T	C	8: 105,308,323	L415P	probably benign	Het
Entpd5	A	G	12: 84,380,380		probably benign	Het
Gm7534	A	G	4: 134,201,980	L338S	probably benign	Het
Gpatch11	T	C	17: 78,842,231		probably null	Het
Gprin3	C	A	6: 59,353,162	R720I	possibly damaging	Het
Gria4	T	G	9: 4,502,460	T358P	probably damaging	Het
Hcn2	T	C	10: 79,724,813		probably null	Het
Hivep3	A	G	4: 120,132,024	T1891A	probably benign	Het
Hmgcr	A	G	13: 96,663,127	V153A	probably damaging	Het
Ifnar1	T	C	16: 91,505,146	V503A	possibly damaging	Het
Igf2r	G	A	17: 12,698,516		probably benign	Het
Ighg2b	A	G	12: 113,307,829	S35P	unknown	Het
Jmy	T	C	13: 93,499,242	D22G	possibly damaging	Het
Kdm5b	T	C	1: 134,624,931	I1215T	probably benign	Het
Krt84	T	C	15: 101,532,356	I134V	unknown	Het
Magi3	T	A	3: 104,085,347	M270L	probably benign	Het
Maneal	G	A	4: 124,860,416	T198I	probably benign	Het
Map7d3	A	G	X: 56,822,231		probably benign	Het
Myh7	T	A	14: 54,974,731	T1519S	probably benign	Het
Myo5a	T	C	9: 75,167,236		probably benign	Het
Naip5	T	C	13: 100,221,642	S1029G	probably benign	Het
Olfr1162	T	C	2: 88,049,989	T212A	possibly damaging	Het
Olfr1205	A	T	2: 88,832,028	I304F	probably benign	Het
Olfr125	G	T	17: 37,835,413	C138F	probably damaging	Het
Olfr1279	T	A	2: 111,306,418	V71E	probably damaging	Het
Olfr178	T	A	16: 58,889,821	Q133L	probably benign	Het
Pald1	A	T	10: 61,347,141		probably benign	Het
Pan2	T	A	10: 128,309,075	H230Q	possibly damaging	Het
Piezo2	A	G	18: 63,020,634	S2547P	probably benign	Het
Ppargc1b	T	A	18: 61,309,096		probably null	Het
Prdm6	T	C	18: 53,464,677		probably benign	Het
Prr5l	A	T	2: 101,772,120		probably benign	Het
Rab3gap2	T	A	1: 185,271,468	L1020*	probably null	Het
Rhbdf1	T	C	11: 32,210,543	H669R	probably damaging	Het
Rnf150	A	T	8: 83,003,605	I255F	probably damaging	Het
Rnf17	T	A	14: 56,507,868	D1360E	probably null	Het
Sag	T	C	1: 87,828,475		probably null	Het
Scn2a	C	T	2: 65,671,603	T90I	probably benign	Het
Scn9a	T	A	2: 66,484,611		probably benign	Het
Serpinb13	T	C	1: 106,998,910	M212T	probably damaging	Het
Slc39a14	C	T	14: 70,306,685	G484E	possibly damaging	Het
Slco1a1	A	T	6: 141,921,943		probably benign	Het
Slitrk3	A	T	3: 73,049,979	Y487N	probably damaging	Het
Stkld1	T	C	2: 26,946,659	M279T	probably benign	Het
Tmem161b	T	C	13: 84,272,254	Y125H	probably damaging	Het
Tmem71	A	G	15: 66,555,025		probably benign	Het
Ubxn7	T	C	16: 32,369,383	F142L	probably damaging	Het
Vmn2r22	A	G	6: 123,638,004	L209P	probably damaging	Het
Wdr73	A	T	7: 80,893,760	W136R	probably damaging	Het
Wif1	C	T	10: 121,075,276	R107C	probably damaging	Het
Ythdf2	G	T	4: 132,205,574	L92M	probably benign	Het
Zfp53	T	A	17: 21,500,250	I34N	possibly damaging	Het

Other mutations in Pcdh9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Pcdh9	APN	14	93326694	missense	probably damaging	1.00
IGL02244:Pcdh9	APN	14	93326768	missense	probably damaging	1.00
IGL02571:Pcdh9	APN	14	93560587	splice site	probably benign
IGL03018:Pcdh9	APN	14	93015576	missense	probably null
I1329:Pcdh9	UTSW	14	93886209	missense	probably benign	0.00
R0027:Pcdh9	UTSW	14	93888645	missense	probably null	0.99
R0027:Pcdh9	UTSW	14	93888645	missense	probably null	0.99
R0477:Pcdh9	UTSW	14	93887678	missense	probably damaging	0.99
R0499:Pcdh9	UTSW	14	93886235	missense	probably damaging	1.00
R0787:Pcdh9	UTSW	14	93886757	missense	possibly damaging	0.88
R1205:Pcdh9	UTSW	14	93886065	missense	probably benign	0.01
R1616:Pcdh9	UTSW	14	93886969	nonsense	probably null
R1620:Pcdh9	UTSW	14	93888305	missense	probably damaging	1.00
R1622:Pcdh9	UTSW	14	93885875	missense	probably benign	0.03
R1708:Pcdh9	UTSW	14	93888305	missense	probably damaging	1.00
R1721:Pcdh9	UTSW	14	93888035	missense	probably damaging	1.00
R1753:Pcdh9	UTSW	14	93887225	missense	probably benign	0.33
R1799:Pcdh9	UTSW	14	93888671	missense	probably benign	0.36
R1867:Pcdh9	UTSW	14	93888035	missense	probably damaging	1.00
R1987:Pcdh9	UTSW	14	93888305	missense	probably damaging	1.00
R1988:Pcdh9	UTSW	14	93888305	missense	probably damaging	1.00
R2444:Pcdh9	UTSW	14	93886791	missense	probably benign	0.10
R3895:Pcdh9	UTSW	14	93887538	missense	probably damaging	1.00
R3926:Pcdh9	UTSW	14	93886810	nonsense	probably null
R4166:Pcdh9	UTSW	14	93887520	nonsense	probably null
R4429:Pcdh9	UTSW	14	93887384	missense	probably damaging	0.96
R4589:Pcdh9	UTSW	14	93888192	missense	probably damaging	1.00
R4604:Pcdh9	UTSW	14	93887180	missense	probably damaging	1.00
R4607:Pcdh9	UTSW	14	93015573	missense	probably benign	0.08
R4621:Pcdh9	UTSW	14	93887643	missense	probably benign	0.12
R4624:Pcdh9	UTSW	14	93886409	missense	probably damaging	1.00
R4712:Pcdh9	UTSW	14	93888631	missense	probably damaging	1.00
R4788:Pcdh9	UTSW	14	93887415	missense	probably damaging	1.00
R4831:Pcdh9	UTSW	14	93887941	missense	probably damaging	1.00
R4883:Pcdh9	UTSW	14	93888728	missense	possibly damaging	0.83
R5034:Pcdh9	UTSW	14	93326849	missense	probably benign	0.13
R5175:Pcdh9	UTSW	14	93888443	missense	probably damaging	1.00
R5637:Pcdh9	UTSW	14	93885762	missense	possibly damaging	0.91
R5743:Pcdh9	UTSW	14	93886724	missense	probably damaging	1.00
R5753:Pcdh9	UTSW	14	93888161	missense	probably damaging	1.00
R5770:Pcdh9	UTSW	14	93886943	missense	probably damaging	1.00
R5900:Pcdh9	UTSW	14	93326720	missense	probably damaging	0.98
R5986:Pcdh9	UTSW	14	93887048	missense	probably damaging	1.00
R6052:Pcdh9	UTSW	14	93885846	missense	probably benign	0.40
R6113:Pcdh9	UTSW	14	93887108	missense	probably damaging	1.00
R6223:Pcdh9	UTSW	14	93015733	missense	probably benign	0.18
R6415:Pcdh9	UTSW	14	93015842	missense	possibly damaging	0.83
R6435:Pcdh9	UTSW	14	93887844	missense	probably benign	0.01
R7064:Pcdh9	UTSW	14	93886149	missense	probably damaging	1.00
R7143:Pcdh9	UTSW	14	93888272	missense	probably damaging	0.99
R7219:Pcdh9	UTSW	14	93015780	missense	possibly damaging	0.87
R7262:Pcdh9	UTSW	14	93015705	missense	probably benign	0.01
R7354:Pcdh9	UTSW	14	93888270	missense	probably benign	0.28
R7369:Pcdh9	UTSW	14	93886367	missense	possibly damaging	0.67
R7427:Pcdh9	UTSW	14	93887111	missense	probably damaging	1.00
R7428:Pcdh9	UTSW	14	93887111	missense	probably damaging	1.00
R7780:Pcdh9	UTSW	14	93886551	missense	possibly damaging	0.91
R7870:Pcdh9	UTSW	14	93887257	missense	probably damaging	0.97
R7921:Pcdh9	UTSW	14	93015565	missense	probably benign
R8052:Pcdh9	UTSW	14	93885786	missense	probably benign	0.00
R8252:Pcdh9	UTSW	14	93888650	missense	probably damaging	1.00
R8671:Pcdh9	UTSW	14	93888650	missense	probably damaging	1.00
R8672:Pcdh9	UTSW	14	93887093	missense	probably benign	0.08
R8724:Pcdh9	UTSW	14	93887147	missense	probably benign	0.19
R8974:Pcdh9	UTSW	14	93887677	missense	probably benign	0.20
R9044:Pcdh9	UTSW	14	93886811	missense	probably damaging	1.00
X0012:Pcdh9	UTSW	14	93886644	missense	possibly damaging	0.71
X0067:Pcdh9	UTSW	14	93326849	missense	probably benign	0.13

Posted On

2015-04-16