Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02571:Pcdh9'

299016

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcdh9

Ensembl Gene

ENSMUSG00000055421

Gene Name

protocadherin 9

Synonyms

C630029H24Rik, LOC382930, A730003J17Rik, 1500001L12Rik, C530050I23Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

IGL02571

Quality Score

Status

Chromosome

Chromosomal Location

93250846-94128115 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 93798023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141396 (fasta)

Gene Model

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

AlphaFold

F8VPK8

Predicted Effect

probably benign
Transcript: ENSMUST00000068992

SMART Domains

Protein: ENSMUSP00000070935
Gene: ENSMUSG00000055421

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

SMART Domains

Protein: ENSMUSP00000142260
Gene: ENSMUSG00000055421

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

probably benign
Transcript: ENSMUST00000193901

SMART Domains

Protein: ENSMUSP00000141759
Gene: ENSMUSG00000055421

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: ENSMUST00000194129

Predicted Effect

probably benign
Transcript: ENSMUST00000195376

SMART Domains

Protein: ENSMUSP00000142224
Gene: ENSMUSG00000055421

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

SMART Domains

Protein: ENSMUSP00000141396
Gene: ENSMUSG00000055421

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8a2	T	C	14: 60,249,907 (GRCm39)		probably benign	Het
Cacna2d2	G	A	9: 107,402,845 (GRCm39)	E885K	possibly damaging	Het
Cyp4f17	A	G	17: 32,743,878 (GRCm39)	E352G	probably benign	Het
Dip2b	T	C	15: 100,055,766 (GRCm39)	W373R	possibly damaging	Het
Garin3	G	T	11: 46,296,072 (GRCm39)	R148L	probably damaging	Het
Gem	C	A	4: 11,713,628 (GRCm39)	Q255K	probably benign	Het
Herc1	T	C	9: 66,341,887 (GRCm39)		probably benign	Het
Herc2	A	T	7: 55,803,134 (GRCm39)	N2161I	probably damaging	Het
Ift172	A	G	5: 31,415,235 (GRCm39)	F1325L	probably damaging	Het
Irgc	T	C	7: 24,132,016 (GRCm39)	K267R	probably damaging	Het
Kif1a	A	G	1: 92,948,178 (GRCm39)		probably null	Het
Lifr	G	T	15: 7,219,592 (GRCm39)		probably benign	Het
Mrpl12	A	G	11: 120,376,258 (GRCm39)		probably null	Het
Mrps18c	A	G	5: 100,949,841 (GRCm39)	D74G	probably damaging	Het
Mtus1	C	T	8: 41,536,519 (GRCm39)	G399D	possibly damaging	Het
Nf1	T	C	11: 79,319,453 (GRCm39)	I536T	probably damaging	Het
Or5a3	C	A	19: 12,400,250 (GRCm39)	S192R	possibly damaging	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Rubcnl	A	T	14: 75,269,576 (GRCm39)	Q78L	possibly damaging	Het
Sis	C	A	3: 72,863,637 (GRCm39)		probably benign	Het
Tbc1d2	T	C	4: 46,628,370 (GRCm39)	M320V	probably benign	Het
Vmn1r178	C	T	7: 23,593,660 (GRCm39)	T236I	probably damaging	Het
Xpc	T	C	6: 91,481,053 (GRCm39)	D273G	probably benign	Het
Zfhx4	A	C	3: 5,394,583 (GRCm39)	N1033T	probably damaging	Het
Zfp646	A	G	7: 127,478,584 (GRCm39)	T254A	probably damaging	Het

Other mutations in Pcdh9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Pcdh9	APN	14	93,564,130 (GRCm39)	missense	probably damaging	1.00
IGL02183:Pcdh9	APN	14	94,123,720 (GRCm39)	missense	probably benign	0.01
IGL02244:Pcdh9	APN	14	93,564,204 (GRCm39)	missense	probably damaging	1.00
IGL03018:Pcdh9	APN	14	93,253,012 (GRCm39)	missense	probably null
I1329:Pcdh9	UTSW	14	94,123,645 (GRCm39)	missense	probably benign	0.00
R0027:Pcdh9	UTSW	14	94,126,081 (GRCm39)	missense	probably null	0.99
R0027:Pcdh9	UTSW	14	94,126,081 (GRCm39)	missense	probably null	0.99
R0477:Pcdh9	UTSW	14	94,125,114 (GRCm39)	missense	probably damaging	0.99
R0499:Pcdh9	UTSW	14	94,123,671 (GRCm39)	missense	probably damaging	1.00
R0787:Pcdh9	UTSW	14	94,124,193 (GRCm39)	missense	possibly damaging	0.88
R1205:Pcdh9	UTSW	14	94,123,501 (GRCm39)	missense	probably benign	0.01
R1616:Pcdh9	UTSW	14	94,124,405 (GRCm39)	nonsense	probably null
R1620:Pcdh9	UTSW	14	94,125,741 (GRCm39)	missense	probably damaging	1.00
R1622:Pcdh9	UTSW	14	94,123,311 (GRCm39)	missense	probably benign	0.03
R1708:Pcdh9	UTSW	14	94,125,741 (GRCm39)	missense	probably damaging	1.00
R1721:Pcdh9	UTSW	14	94,125,471 (GRCm39)	missense	probably damaging	1.00
R1753:Pcdh9	UTSW	14	94,124,661 (GRCm39)	missense	probably benign	0.33
R1799:Pcdh9	UTSW	14	94,126,107 (GRCm39)	missense	probably benign	0.36
R1867:Pcdh9	UTSW	14	94,125,471 (GRCm39)	missense	probably damaging	1.00
R1987:Pcdh9	UTSW	14	94,125,741 (GRCm39)	missense	probably damaging	1.00
R1988:Pcdh9	UTSW	14	94,125,741 (GRCm39)	missense	probably damaging	1.00
R2444:Pcdh9	UTSW	14	94,124,227 (GRCm39)	missense	probably benign	0.10
R3895:Pcdh9	UTSW	14	94,124,974 (GRCm39)	missense	probably damaging	1.00
R3926:Pcdh9	UTSW	14	94,124,246 (GRCm39)	nonsense	probably null
R4166:Pcdh9	UTSW	14	94,124,956 (GRCm39)	nonsense	probably null
R4429:Pcdh9	UTSW	14	94,124,820 (GRCm39)	missense	probably damaging	0.96
R4589:Pcdh9	UTSW	14	94,125,628 (GRCm39)	missense	probably damaging	1.00
R4604:Pcdh9	UTSW	14	94,124,616 (GRCm39)	missense	probably damaging	1.00
R4607:Pcdh9	UTSW	14	93,253,009 (GRCm39)	missense	probably benign	0.08
R4621:Pcdh9	UTSW	14	94,125,079 (GRCm39)	missense	probably benign	0.12
R4624:Pcdh9	UTSW	14	94,123,845 (GRCm39)	missense	probably damaging	1.00
R4712:Pcdh9	UTSW	14	94,126,067 (GRCm39)	missense	probably damaging	1.00
R4788:Pcdh9	UTSW	14	94,124,851 (GRCm39)	missense	probably damaging	1.00
R4831:Pcdh9	UTSW	14	94,125,377 (GRCm39)	missense	probably damaging	1.00
R4883:Pcdh9	UTSW	14	94,126,164 (GRCm39)	missense	possibly damaging	0.83
R5034:Pcdh9	UTSW	14	93,564,285 (GRCm39)	missense	probably benign	0.13
R5175:Pcdh9	UTSW	14	94,125,879 (GRCm39)	missense	probably damaging	1.00
R5637:Pcdh9	UTSW	14	94,123,198 (GRCm39)	missense	possibly damaging	0.91
R5743:Pcdh9	UTSW	14	94,124,160 (GRCm39)	missense	probably damaging	1.00
R5753:Pcdh9	UTSW	14	94,125,597 (GRCm39)	missense	probably damaging	1.00
R5770:Pcdh9	UTSW	14	94,124,379 (GRCm39)	missense	probably damaging	1.00
R5900:Pcdh9	UTSW	14	93,564,156 (GRCm39)	missense	probably damaging	0.98
R5986:Pcdh9	UTSW	14	94,124,484 (GRCm39)	missense	probably damaging	1.00
R6052:Pcdh9	UTSW	14	94,123,282 (GRCm39)	missense	probably benign	0.40
R6113:Pcdh9	UTSW	14	94,124,544 (GRCm39)	missense	probably damaging	1.00
R6223:Pcdh9	UTSW	14	93,253,169 (GRCm39)	missense	probably benign	0.18
R6415:Pcdh9	UTSW	14	93,253,278 (GRCm39)	missense	possibly damaging	0.83
R6435:Pcdh9	UTSW	14	94,125,280 (GRCm39)	missense	probably benign	0.01
R7064:Pcdh9	UTSW	14	94,123,585 (GRCm39)	missense	probably damaging	1.00
R7143:Pcdh9	UTSW	14	94,125,708 (GRCm39)	missense	probably damaging	0.99
R7219:Pcdh9	UTSW	14	93,253,216 (GRCm39)	missense	possibly damaging	0.87
R7262:Pcdh9	UTSW	14	93,253,141 (GRCm39)	missense	probably benign	0.01
R7354:Pcdh9	UTSW	14	94,125,706 (GRCm39)	missense	probably benign	0.28
R7369:Pcdh9	UTSW	14	94,123,803 (GRCm39)	missense	possibly damaging	0.67
R7427:Pcdh9	UTSW	14	94,124,547 (GRCm39)	missense	probably damaging	1.00
R7428:Pcdh9	UTSW	14	94,124,547 (GRCm39)	missense	probably damaging	1.00
R7780:Pcdh9	UTSW	14	94,123,987 (GRCm39)	missense	possibly damaging	0.91
R7870:Pcdh9	UTSW	14	94,124,693 (GRCm39)	missense	probably damaging	0.97
R7921:Pcdh9	UTSW	14	93,253,001 (GRCm39)	missense	probably benign
R8052:Pcdh9	UTSW	14	94,123,222 (GRCm39)	missense	probably benign	0.00
R8252:Pcdh9	UTSW	14	94,126,086 (GRCm39)	missense	probably damaging	1.00
R8671:Pcdh9	UTSW	14	94,126,086 (GRCm39)	missense	probably damaging	1.00
R8672:Pcdh9	UTSW	14	94,124,529 (GRCm39)	missense	probably benign	0.08
R8724:Pcdh9	UTSW	14	94,124,583 (GRCm39)	missense	probably benign	0.19
R8974:Pcdh9	UTSW	14	94,125,113 (GRCm39)	missense	probably benign	0.20
R9044:Pcdh9	UTSW	14	94,124,247 (GRCm39)	missense	probably damaging	1.00
R9486:Pcdh9	UTSW	14	93,797,956 (GRCm39)	missense	possibly damaging	0.73
R9534:Pcdh9	UTSW	14	94,123,656 (GRCm39)	missense	probably damaging	0.99
X0012:Pcdh9	UTSW	14	94,124,080 (GRCm39)	missense	possibly damaging	0.71
X0067:Pcdh9	UTSW	14	93,564,285 (GRCm39)	missense	probably benign	0.13

Posted On

2015-04-16