Mutagenetix > Incidental Mutation

Incidental Mutation 'R6110:Pcdhb4'

484813

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb4

Ensembl Gene

ENSMUSG00000045689

Gene Name

protocadherin beta 4

Synonyms

PcdhbD, Pcdhb5A

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_053129.3; MGI:2136738

Essential gene?

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

Stock #

R6110 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37307455-37311172 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37308429 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 264 (V264A)

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

possibly damaging
Transcript: ENSMUST00000056712
AA Change: V264A

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000059770
Gene: ENSMUSG00000045689
AA Change: V264A

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

Meta Mutation Damage Score

0.1742

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.7%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7b	T	C	4: 56,740,224	E378G	probably damaging	Het
Adam17	A	T	12: 21,353,948	V99E	probably damaging	Het
Alkal2	G	A	12: 30,887,058	R90Q	probably damaging	Het
Amy1	C	T	3: 113,561,900	V309M	probably damaging	Het
Apob	T	C	12: 8,011,883	L3455P	probably damaging	Het
Ash1l	T	A	3: 88,985,129	H1438Q	probably damaging	Het
BC024139	A	G	15: 76,119,796	S757P	probably benign	Het
Btd	G	A	14: 31,641,108		probably benign	Het
C2cd3	T	A	7: 100,441,076	F462Y	probably damaging	Het
C4bp	T	A	1: 130,639,072	K177*	probably null	Het
Cacna1h	G	T	17: 25,391,276	P752Q	probably benign	Het
Cd34	G	A	1: 194,949,569		probably null	Het
Clptm1	G	A	7: 19,633,806		probably benign	Het
Dip2c	T	C	13: 9,623,766	S1081P	probably damaging	Het
Dnm3	CAGCCTTCGTTGGGTG	C	1: 162,011,068		probably benign	Het
Efcab6	T	G	15: 83,879,634	M1166L	possibly damaging	Het
Fam151a	G	A	4: 106,748,198	V586M	probably damaging	Het
Fap	T	G	2: 62,554,770	Y54S	possibly damaging	Het
Gm17727	A	T	9: 35,777,146	S48T	possibly damaging	Het
Grhl1	A	G	12: 24,580,747		probably null	Het
Hcrtr2	T	C	9: 76,259,782	Y91C	probably damaging	Het
Kat6b	C	T	14: 21,670,487	R1745C	probably damaging	Het
Kdm5a	T	C	6: 120,412,306	L898P	probably damaging	Het
Lipo5	T	C	19: 33,467,917	Q84R	unknown	Het
Mfn1	G	A	3: 32,563,024	M18I	probably benign	Het
Mptx2	G	A	1: 173,274,847	L92F	probably benign	Het
Mtfmt	T	C	9: 65,447,304		probably null	Het
Nsun2	C	G	13: 69,627,648	Q404E	probably benign	Het
Odf3	G	T	7: 140,848,641	R73L	possibly damaging	Het
Olfr1052	T	A	2: 86,298,675	N286K	probably damaging	Het
Olfr1487	C	T	19: 13,619,885	A241V	probably benign	Het
Olfr346	T	C	2: 36,688,547	S182P	probably benign	Het
Olfr495	G	T	7: 108,395,828	S236I	possibly damaging	Het
Olfr520	C	T	7: 99,735,170	S9L	possibly damaging	Het
Olfr646	A	G	7: 104,106,572	M98V	probably damaging	Het
Olfr811	G	A	10: 129,801,820	A235V	probably damaging	Het
Olfr811	C	A	10: 129,801,821	A235S	probably damaging	Het
Parp9	A	G	16: 35,953,626	I90V	possibly damaging	Het
Pax2	T	A	19: 44,790,736	S183T	probably damaging	Het
Pcdha11	T	C	18: 37,011,456	L200P	probably damaging	Het
Plch1	G	T	3: 63,698,858	N1199K	possibly damaging	Het
Ptpn22	A	G	3: 103,912,015	N795S	probably damaging	Het
Qars	T	C	9: 108,508,098	S6P	probably benign	Het
Sema3a	T	C	5: 13,581,001	Y502H	probably damaging	Het
Sema4f	A	G	6: 82,937,104	I91T	probably damaging	Het
Setx	T	G	2: 29,140,290	I247S	probably damaging	Het
Slc9c1	T	C	16: 45,575,368	L594P	probably damaging	Het
Tnfrsf19	A	T	14: 60,971,139	M311K	probably benign	Het
Ttc30b	T	C	2: 75,937,800	Y203C	probably damaging	Het
Tubgcp4	T	C	2: 121,194,108	I588T	probably benign	Het
Tyro3	T	C	2: 119,812,823	V655A	probably damaging	Het
Uba7	T	A	9: 107,978,939	D504E	probably benign	Het
Vav3	C	T	3: 109,664,365	T201M	probably damaging	Het
Vldlr	A	G	19: 27,238,077	E117G	possibly damaging	Het
Vmn2r44	A	T	7: 8,378,006	I296K	probably damaging	Het
Vmn2r80	T	A	10: 79,182,003	C521S	probably damaging	Het
Wnk1	A	T	6: 119,972,997		probably benign	Het
Xpo1	T	C	11: 23,287,434	S766P	probably damaging	Het
Zcchc4	A	G	5: 52,796,144	N165S	possibly 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
IGL02280:Pcdhb4	APN	18	37307682	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- GAGCTCACTTTAATCCTCACCG -3'
(R):5'- TCTGGGGCGTTATCATTCAC -3'

Sequencing Primer
(F):5'- AATCCTCACCGCTCTGGATGG -3'
(R):5'- GAACAGCTACAGTGCATTTTCCTG -3'

Posted On

2017-08-16