Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02280:Pcdhb4'

289802

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcdhb4

Ensembl Gene

ENSMUSG00000045689

Gene Name

protocadherin beta 4

Synonyms

PcdhbD, Pcdhb5A

Accession Numbers

Ncbi RefSeq: NM_053129.3; MGI:2136738

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL02280

Quality Score

Status

Chromosome

Chromosomal Location

37307455-37311172 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 37307682 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 15 (V15G)

Ref Sequence

ENSEMBL: ENSMUSP00000059770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051754] [ENSMUST00000056712] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

Q91XZ6

Predicted Effect

probably benign
Transcript: ENSMUST00000051754

SMART Domains

Protein: ENSMUSP00000059180
Gene: ENSMUSG00000045498

Domain	Start	End	E-Value	Type
low complexity region	14	28	N/A	INTRINSIC
CA	44	131	6.29e-1	SMART
CA	155	240	7.16e-21	SMART
CA	264	345	1.22e-23	SMART
CA	368	449	2.86e-20	SMART
CA	473	559	2.55e-26	SMART
CA	589	670	1.11e-8	SMART
Pfam:Cadherin_C_2	687	770	9.9e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056712
AA Change: V15G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000059770
Gene: ENSMUSG00000045689
AA Change: V15G

Domain	Start	End	E-Value	Type
CA	54	131	1.66e0	SMART
CA	155	240	1.07e-19	SMART
CA	264	344	6.03e-28	SMART
CA	367	448	2.57e-22	SMART
CA	472	558	3.36e-26	SMART
CA	588	669	3.48e-10	SMART
Pfam:Cadherin_C_2	685	768	1e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115661

SMART Domains

Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458

Domain	Start	End	E-Value	Type
CA	20	131	5.3e-2	SMART
CA	155	240	1.51e-19	SMART
CA	264	348	7.6e-25	SMART
CA	372	453	1.42e-24	SMART
CA	477	563	1.42e-24	SMART
CA	594	674	4.12e-12	SMART
low complexity region	706	721	N/A	INTRINSIC
Pfam:Cadherin_tail	796	930	3.9e-58	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193025

Predicted Effect

probably benign
Transcript: ENSMUST00000193984

Predicted Effect

probably benign
Transcript: ENSMUST00000194544

SMART Domains

Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

Domain	Start	End	E-Value	Type
Blast:CA	18	66	5e-20	BLAST

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
C2cd6	A	G	1: 59,077,881		probably null	Het
Car12	T	C	9: 66,746,575	L71P	probably damaging	Het
Dupd1	A	T	14: 21,686,719	I105N	probably damaging	Het
Galnt7	T	G	8: 57,536,790	R467S	probably damaging	Het
Glra3	T	A	8: 55,940,971	L39Q	possibly damaging	Het
Itsn2	A	G	12: 4,708,961	K1526E	possibly damaging	Het
Klra2	T	C	6: 131,245,293	R12G	probably damaging	Het
Ly6g6f	G	T	17: 35,083,218	H114Q	probably benign	Het
Mrc1	C	A	2: 14,244,213	R187S	probably benign	Het
Muc4	C	A	16: 32,754,529	H1468N	probably benign	Het
Myh8	T	A	11: 67,283,372		probably benign	Het
Olfr1129	T	C	2: 87,575,345	I87T	probably damaging	Het
Olfr193	A	G	16: 59,110,332	S93P	probably damaging	Het
Parva	T	C	7: 112,560,019	I164T	probably benign	Het
Pcdh15	A	T	10: 74,222,463	Q233L	probably damaging	Het
Pnpla7	T	A	2: 25,011,577	D538E	probably benign	Het
Pwp2	A	T	10: 78,184,100	I30N	probably damaging	Het
Robo2	G	T	16: 74,046,816	D170E	probably damaging	Het
Scara5	A	G	14: 65,730,778	M167V	probably benign	Het
Sdr9c7	A	C	10: 127,902,418		probably benign	Het
Sspo	T	A	6: 48,496,231	C4836S	probably damaging	Het
Taar7d	A	T	10: 24,028,108	D296V	probably damaging	Het

Other mutations in Pcdhb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Pcdhb4	APN	18	37309916	missense	possibly damaging	0.68
IGL01319:Pcdhb4	APN	18	37308513	missense	probably benign
IGL01325:Pcdhb4	APN	18	37309623	missense	probably damaging	1.00
IGL01608:Pcdhb4	APN	18	37308750	missense	probably damaging	1.00
IGL01808:Pcdhb4	APN	18	37309014	missense	probably damaging	1.00
IGL01962:Pcdhb4	APN	18	37309004	missense	possibly damaging	0.90
IGL02622:Pcdhb4	APN	18	37309668	missense	probably benign	0.00
IGL03025:Pcdhb4	APN	18	37309977	missense	possibly damaging	0.62
IGL03137:Pcdhb4	APN	18	37308516	missense	probably damaging	0.98
P0031:Pcdhb4	UTSW	18	37308885	missense	probably damaging	1.00
R0385:Pcdhb4	UTSW	18	37309215	missense	probably damaging	1.00
R0611:Pcdhb4	UTSW	18	37308210	missense	probably damaging	1.00
R0671:Pcdhb4	UTSW	18	37307742	missense	probably benign	0.01
R0738:Pcdhb4	UTSW	18	37308711	missense	probably damaging	1.00
R0853:Pcdhb4	UTSW	18	37309885	nonsense	probably null
R0893:Pcdhb4	UTSW	18	37309370	splice site	probably null
R1932:Pcdhb4	UTSW	18	37309541	missense	probably benign	0.33
R1945:Pcdhb4	UTSW	18	37308868	missense	probably damaging	1.00
R2194:Pcdhb4	UTSW	18	37308735	missense	probably damaging	1.00
R2273:Pcdhb4	UTSW	18	37308926	missense	probably damaging	1.00
R3807:Pcdhb4	UTSW	18	37309314	missense	probably damaging	0.98
R3815:Pcdhb4	UTSW	18	37308012	missense	probably damaging	1.00
R3816:Pcdhb4	UTSW	18	37308012	missense	probably damaging	1.00
R3974:Pcdhb4	UTSW	18	37308848	missense	possibly damaging	0.55
R4558:Pcdhb4	UTSW	18	37309964	missense	probably benign
R4606:Pcdhb4	UTSW	18	37308652	missense	probably damaging	1.00
R4615:Pcdhb4	UTSW	18	37308500	missense	probably benign	0.02
R4840:Pcdhb4	UTSW	18	37308399	missense	possibly damaging	0.60
R5240:Pcdhb4	UTSW	18	37309926	missense	possibly damaging	0.78
R5272:Pcdhb4	UTSW	18	37307766	missense	probably benign	0.04
R5586:Pcdhb4	UTSW	18	37308981	missense	probably damaging	1.00
R5683:Pcdhb4	UTSW	18	37308989	missense	probably benign	0.45
R5917:Pcdhb4	UTSW	18	37309566	missense	probably damaging	1.00
R6110:Pcdhb4	UTSW	18	37308429	missense	possibly damaging	0.80
R6383:Pcdhb4	UTSW	18	37308021	missense	probably damaging	1.00
R6877:Pcdhb4	UTSW	18	37309572	missense	probably damaging	1.00
R7036:Pcdhb4	UTSW	18	37308782	missense	possibly damaging	0.95
R7204:Pcdhb4	UTSW	18	37309239	missense	probably damaging	1.00
R7271:Pcdhb4	UTSW	18	37308169	missense	possibly damaging	0.89
R7436:Pcdhb4	UTSW	18	37309275	missense	probably damaging	1.00
R7444:Pcdhb4	UTSW	18	37309452	missense	probably damaging	1.00
R7614:Pcdhb4	UTSW	18	37309549	missense	probably benign	0.40
R7650:Pcdhb4	UTSW	18	37309614	missense	probably damaging	1.00
R7664:Pcdhb4	UTSW	18	37309240	missense	probably damaging	1.00
R8080:Pcdhb4	UTSW	18	37309296	missense	probably benign	0.42
R8087:Pcdhb4	UTSW	18	37308664	missense	probably damaging	1.00
R8115:Pcdhb4	UTSW	18	37309400	missense	probably damaging	0.99
R8697:Pcdhb4	UTSW	18	37308779	missense	probably benign	0.15
R8815:Pcdhb4	UTSW	18	37309002	missense	probably damaging	1.00
R9008:Pcdhb4	UTSW	18	37307661	missense	probably benign
R9225:Pcdhb4	UTSW	18	37308642	missense	possibly damaging	0.68
R9278:Pcdhb4	UTSW	18	37308872	missense	possibly damaging	0.61
R9299:Pcdhb4	UTSW	18	37309211	missense	probably benign	0.02
R9390:Pcdhb4	UTSW	18	37309728	missense	possibly damaging	0.80
R9582:Pcdhb4	UTSW	18	37308364	missense	probably damaging	1.00
R9686:Pcdhb4	UTSW	18	37309890	missense	probably damaging	0.98
R9721:Pcdhb4	UTSW	18	37309852	missense	possibly damaging	0.70
Z1177:Pcdhb4	UTSW	18	37309913	missense	probably benign	0.02

Posted On

2015-04-16