Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00482:Pcdh9'

4145

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: 0.166) question?

Stock #

IGL00482

Quality Score

Status

Chromosome

Chromosomal Location

93250846-94128115 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93564130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1067 (S1067P)

Ref Sequence

ENSEMBL: ENSMUSP00000142224 (fasta)

Gene Model

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

AlphaFold

F8VPK8

Predicted Effect

probably damaging
Transcript: ENSMUST00000068992
AA Change: S1109P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000070935
Gene: ENSMUSG00000055421
AA Change: S1109P

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

possibly damaging
Transcript: ENSMUST00000192221
AA Change: S910P

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142260
Gene: ENSMUSG00000055421
AA Change: S910P

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 damaging
Transcript: ENSMUST00000193901
AA Change: S1075P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141759
Gene: ENSMUSG00000055421
AA Change: S1075P

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

unknown
Transcript: ENSMUST00000194129
AA Change: S72P

Predicted Effect

probably damaging
Transcript: ENSMUST00000195376
AA Change: S1067P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142224
Gene: ENSMUSG00000055421
AA Change: S1067P

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 damaging
Transcript: ENSMUST00000195826
AA Change: S1109P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141396
Gene: ENSMUSG00000055421
AA Change: S1109P

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	G	5: 114,338,350 (GRCm39)	T722A	probably damaging	Het
Akr1b10	G	T	6: 34,365,837 (GRCm39)		probably benign	Het
Amy1	G	T	3: 113,349,781 (GRCm39)	T463K	probably damaging	Het
Arid4b	T	C	13: 14,365,719 (GRCm39)		probably benign	Het
Arl2	A	G	19: 6,191,082 (GRCm39)	L17P	probably damaging	Het
C2cd2	T	C	16: 97,671,420 (GRCm39)	E493G	probably damaging	Het
Cdk19	A	G	10: 40,345,644 (GRCm39)	E239G	possibly damaging	Het
Cit	A	G	5: 116,076,814 (GRCm39)	D719G	probably damaging	Het
Commd3	T	C	2: 18,678,739 (GRCm39)	V58A	possibly damaging	Het
Cyp2c29	A	C	19: 39,313,467 (GRCm39)	D360A	probably damaging	Het
Eps8	A	G	6: 137,482,477 (GRCm39)	Y492H	probably benign	Het
Gk	A	G	X: 84,804,207 (GRCm39)	L78P	possibly damaging	Het
Gm5884	A	T	6: 128,623,166 (GRCm39)		noncoding transcript	Het
Lat2	A	T	5: 134,635,630 (GRCm39)		probably null	Het
Lrrc4c	C	A	2: 97,460,730 (GRCm39)	S452*	probably null	Het
Ntsr2	T	C	12: 16,709,849 (GRCm39)	C377R	probably damaging	Het
Padi3	A	C	4: 140,530,935 (GRCm39)	M29R	possibly damaging	Het
Prrc2a	T	C	17: 35,373,959 (GRCm39)	D1462G	probably damaging	Het
Rassf4	A	G	6: 116,622,089 (GRCm39)	F168L	possibly damaging	Het
Serpinb1c	T	C	13: 33,067,958 (GRCm39)	K213E	probably damaging	Het
Siglec1	C	T	2: 130,921,245 (GRCm39)	R642Q	probably benign	Het
Snrnp200	T	G	2: 127,072,055 (GRCm39)	V1214G	possibly damaging	Het
Sorcs3	G	A	19: 48,592,303 (GRCm39)	G323S	probably benign	Het
Spidr	A	G	16: 15,932,833 (GRCm39)	V149A	possibly damaging	Het
Stat4	A	T	1: 52,113,856 (GRCm39)	I189F	probably benign	Het
Tep1	T	C	14: 51,080,641 (GRCm39)	Y1387C	probably damaging	Het
Tmprss9	G	A	10: 80,730,262 (GRCm39)		probably null	Het

Other mutations in Pcdh9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02571:Pcdh9	APN	14	93,798,023 (GRCm39)	splice site	probably benign
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

2012-04-20