Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03365:Pcdh11x'

420029

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcdh11x

Ensembl Gene

ENSMUSG00000034755

Gene Name

protocadherin 11 X-linked

Synonyms

A230092L07Rik, PCDHX

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

IGL03365

Quality Score

Status

Chromosome

Chromosomal Location

119199956-119820316 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119425935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1019 (D1019E)

Ref Sequence

ENSEMBL: ENSMUSP00000052340 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050239] [ENSMUST00000113358] [ENSMUST00000113364] [ENSMUST00000155223] [ENSMUST00000191653] [ENSMUST00000192677] [ENSMUST00000195088]

AlphaFold

F6ZNL5

Predicted Effect

probably benign
Transcript: ENSMUST00000050239
AA Change: D1019E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000052340
Gene: ENSMUSG00000034755
AA Change: D1019E

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CA	52	137	8.24e-1	SMART
CA	161	247	2.22e-17	SMART
CA	271	353	2.04e-25	SMART
CA	383	464	1.18e-12	SMART
CA	488	568	2.38e-26	SMART
CA	592	671	7.09e-25	SMART
CA	698	780	5.92e-4	SMART
low complexity region	978	996	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113358

SMART Domains

Protein: ENSMUSP00000108985
Gene: ENSMUSG00000034755

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CA	52	137	8.24e-1	SMART
CA	161	247	2.22e-17	SMART
CA	271	353	2.04e-25	SMART
CA	383	464	1.18e-12	SMART
CA	488	568	2.38e-26	SMART
CA	592	671	7.09e-25	SMART
CA	698	780	5.92e-4	SMART
low complexity region	978	996	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113364

SMART Domains

Protein: ENSMUSP00000108991
Gene: ENSMUSG00000034755

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CA	52	137	8.24e-1	SMART
CA	161	247	2.22e-17	SMART
CA	271	353	2.04e-25	SMART
CA	383	464	1.18e-12	SMART
CA	488	568	2.38e-26	SMART
CA	592	671	7.09e-25	SMART
CA	698	780	5.92e-4	SMART
transmembrane domain	813	835	N/A	INTRINSIC
low complexity region	978	996	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155223

SMART Domains

Protein: ENSMUSP00000138407
Gene: ENSMUSG00000034755

Domain	Start	End	E-Value	Type
Pfam:Protocadherin	1	168	8.9e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000191653

SMART Domains

Protein: ENSMUSP00000141600
Gene: ENSMUSG00000034755

Domain	Start	End	E-Value	Type
Pfam:Protocadherin	1	168	2.1e-67	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000192677

SMART Domains

Protein: ENSMUSP00000141522
Gene: ENSMUSG00000034755

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CA	52	137	4e-3	SMART
CA	161	247	1.1e-19	SMART
CA	271	353	1e-27	SMART
CA	383	464	5.7e-15	SMART
CA	488	568	1.2e-28	SMART
CA	592	671	3.4e-27	SMART
CA	698	780	2.9e-6	SMART
low complexity region	978	996	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000195088

SMART Domains

Protein: ENSMUSP00000142050
Gene: ENSMUSG00000034755

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CA	52	137	8.24e-1	SMART
CA	161	247	2.22e-17	SMART
CA	271	353	2.04e-25	SMART
CA	383	464	1.18e-12	SMART
CA	488	568	2.38e-26	SMART
CA	592	671	7.09e-25	SMART
CA	698	780	5.92e-4	SMART
transmembrane domain	813	835	N/A	INTRINSIC
low complexity region	978	996	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. The encoded protein may mediate cell-cell adhesion in neuronal tissues in the presence of calcium. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Nov 2012]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	T	G	5: 25,202,809 (GRCm39)		probably benign	Het
Adam6a	T	A	12: 113,507,765 (GRCm39)	I46N	possibly damaging	Het
Adipor1	A	G	1: 134,359,380 (GRCm39)	D371G	possibly damaging	Het
Akr1c21	C	T	13: 4,633,851 (GRCm39)	P307S	probably benign	Het
Aoc1l3	A	G	6: 48,965,531 (GRCm39)	D513G	probably damaging	Het
Asxl1	T	A	2: 153,243,674 (GRCm39)	I1408N	probably damaging	Het
Avil	T	C	10: 126,846,852 (GRCm39)	V472A	probably damaging	Het
Bpifa6	C	A	2: 153,831,204 (GRCm39)	Q257K	possibly damaging	Het
Cacna2d4	G	T	6: 119,248,225 (GRCm39)	V380L	probably benign	Het
Clip1	A	C	5: 123,721,649 (GRCm39)	S1111A	probably damaging	Het
Dennd4c	A	G	4: 86,725,663 (GRCm39)		probably null	Het
Dock8	C	T	19: 25,077,048 (GRCm39)	P506L	possibly damaging	Het
Ecsit	A	C	9: 21,987,822 (GRCm39)	H72Q	probably damaging	Het
Eif1b	T	A	9: 120,323,186 (GRCm39)	D15E	probably benign	Het
Enpp1	A	G	10: 24,544,923 (GRCm39)	Y319H	probably damaging	Het
Fat3	T	C	9: 15,907,765 (GRCm39)	N2746D	probably damaging	Het
Fgf20	G	T	8: 40,732,932 (GRCm39)	L115I	possibly damaging	Het
Hip1r	C	T	5: 124,138,230 (GRCm39)	R775W	probably damaging	Het
Hycc1	A	T	5: 24,188,158 (GRCm39)	Y245N	probably benign	Het
Lrp12	A	T	15: 39,735,917 (GRCm39)	S672T	probably benign	Het
Morf4l2	A	G	X: 135,634,464 (GRCm39)	Y255H	probably benign	Het
Mri1	A	G	8: 84,978,262 (GRCm39)	V343A	possibly damaging	Het
Mybphl	T	A	3: 108,272,314 (GRCm39)	M1K	probably null	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Ofd1	C	A	X: 165,175,512 (GRCm39)	V951F	probably damaging	Het
Or4k51	G	T	2: 111,584,772 (GRCm39)	M59I	possibly damaging	Het
Or51r1	G	T	7: 102,227,836 (GRCm39)	V45F	probably benign	Het
Or6c208	T	A	10: 129,224,108 (GRCm39)	V202D	possibly damaging	Het
Parp12	G	A	6: 39,079,581 (GRCm39)	R310W	probably damaging	Het
Ppp1r9a	T	A	6: 5,110,993 (GRCm39)		probably benign	Het
Ptprz1	T	A	6: 23,030,581 (GRCm39)		probably benign	Het
Qser1	T	A	2: 104,617,344 (GRCm39)	N1156I	probably damaging	Het
Rgs3	T	A	4: 62,607,912 (GRCm39)	D59E	probably benign	Het
Rims2	T	C	15: 39,339,937 (GRCm39)	F917S	probably damaging	Het
Sap30bp	G	A	11: 115,855,078 (GRCm39)	V263M	possibly damaging	Het
Scart2	T	A	7: 139,876,682 (GRCm39)	V691E	probably damaging	Het
Scfd2	G	T	5: 74,691,596 (GRCm39)	H229N	possibly damaging	Het
Sspo	T	C	6: 48,436,349 (GRCm39)	V1233A	possibly damaging	Het
Stam	T	A	2: 14,151,201 (GRCm39)	Y519*	probably null	Het
Synj2	A	G	17: 6,069,679 (GRCm39)	T602A	probably damaging	Het
Tas2r126	C	T	6: 42,412,391 (GRCm39)	A308V	probably benign	Het
Tm4sf20	T	C	1: 82,745,948 (GRCm39)		probably benign	Het
Ttc23	G	A	7: 67,312,085 (GRCm39)		probably benign	Het
Vmn1r90	T	C	7: 14,295,229 (GRCm39)	I290V	probably damaging	Het
Xirp1	A	C	9: 119,847,605 (GRCm39)	L426W	probably damaging	Het
Zgrf1	T	G	3: 127,392,423 (GRCm39)	F430L	possibly damaging	Het

Other mutations in Pcdh11x

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Pcdh11x	APN	X	119,502,265 (GRCm39)	missense	probably benign	0.11
IGL01109:Pcdh11x	APN	X	119,310,611 (GRCm39)	missense	possibly damaging	0.65
IGL01413:Pcdh11x	APN	X	119,309,282 (GRCm39)	missense	probably benign	0.04
IGL02458:Pcdh11x	APN	X	119,310,315 (GRCm39)	missense	possibly damaging	0.52
IGL03256:Pcdh11x	APN	X	119,310,607 (GRCm39)	missense	probably benign	0.16
R4795:Pcdh11x	UTSW	X	119,309,937 (GRCm39)	missense	probably damaging	1.00
Z1177:Pcdh11x	UTSW	X	119,311,427 (GRCm39)	missense	possibly damaging	0.82

Posted On

2016-08-02