Mutagenetix > Incidental Mutation

Incidental Mutation 'R3816:Pcdhb4'

274332

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb4

Ensembl Gene

ENSMUSG00000045689

Gene Name

protocadherin beta 4

Synonyms

PcdhbD, Pcdhb5A

MMRRC Submission

040881-MU

Accession Numbers

Ncbi RefSeq: NM_053129.3; MGI:2136738

Essential gene?

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

Stock #

R3816 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37307455-37311172 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37308012 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 125 (D125V)

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 damaging
Transcript: ENSMUST00000056712
AA Change: D125V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000059770
Gene: ENSMUSG00000045689
AA Change: D125V

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

0.7283

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.2%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810013L24Rik	T	A	16: 8,830,494	I12N	probably damaging	Het
Aak1	T	C	6: 86,959,042		probably benign	Het
Abca2	A	G	2: 25,446,071	Y2151C	probably damaging	Het
Adamts3	T	A	5: 89,705,264	H509L	probably damaging	Het
Agfg2	T	C	5: 137,653,774	D441G	probably benign	Het
Arl8b	T	A	6: 108,813,697	V65D	probably damaging	Het
As3mt	A	T	19: 46,707,777	D8V	probably benign	Het
Ass1	G	T	2: 31,510,105		probably benign	Het
Cdc42bpa	A	G	1: 180,144,886	I634V	possibly damaging	Het
Cflar	T	C	1: 58,752,423	V298A	probably benign	Het
Csmd1	C	T	8: 16,002,522	A2201T	probably damaging	Het
Cyp4a12b	A	T	4: 115,432,470	D178V	probably damaging	Het
Dlec1	C	T	9: 119,124,843	A610V	probably damaging	Het
Dock1	C	T	7: 134,744,286	R186*	probably null	Het
E130018O15Rik	T	C	5: 35,382,766		noncoding transcript	Het
Gabrg3	G	A	7: 57,381,664	Q43*	probably null	Het
Gipc2	T	C	3: 152,165,844	K15R	probably benign	Het
Gjb2	A	G	14: 57,100,073	V226A	probably benign	Het
Glipr2	G	T	4: 43,977,522	A51S	possibly damaging	Het
Gsdme	A	C	6: 50,219,411	S340A	probably benign	Het
H2-M10.2	A	T	17: 36,286,362	Y20*	probably null	Het
Hlcs	A	G	16: 94,133,088	V242A	probably benign	Het
Ifi44	T	C	3: 151,749,257	I110M	possibly damaging	Het
Il18r1	T	C	1: 40,486,972		probably benign	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Khk	T	C	5: 30,926,716	S80P	probably damaging	Het
Ly9	G	T	1: 171,589,085	T537N	possibly damaging	Het
Muc4	C	A	16: 32,754,529	H1468N	probably benign	Het
Myo1g	A	G	11: 6,510,926	V706A	probably benign	Het
Npat	T	C	9: 53,569,916	S1008P	probably damaging	Het
Olfr483	A	G	7: 108,103,498	Y63C	possibly damaging	Het
Olfr700	A	G	7: 106,805,820	I214T	probably damaging	Het
Olfr876	C	T	9: 37,804,169	S86L	probably benign	Het
Olfr889	A	T	9: 38,116,626	T277S	possibly damaging	Het
Olfr922	A	G	9: 38,816,426	K308E	possibly damaging	Het
Pcdha2	A	G	18: 36,941,695	Y793C	probably benign	Het
Pdgfrb	A	G	18: 61,078,945	D844G	probably damaging	Het
Phf3	T	C	1: 30,805,753	D1375G	probably damaging	Het
Pigu	A	T	2: 155,299,143	F276I	probably damaging	Het
Pomgnt1	T	A	4: 116,153,942		probably null	Het
Psmd9	C	T	5: 123,234,590		probably benign	Het
Rac2	T	C	15: 78,565,999	D47G	possibly damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sall1	G	T	8: 89,032,675	A267E	probably benign	Het
Secisbp2l	C	T	2: 125,740,737	G933D	possibly damaging	Het
Serpina3k	A	G	12: 104,340,962	E151G	probably benign	Het
Skint5	A	G	4: 113,629,122		probably benign	Het
Slc51b	A	G	9: 65,414,018		probably benign	Het
Sorl1	A	G	9: 42,064,049	L487P	possibly damaging	Het
Sspo	A	T	6: 48,481,103	E3269V	possibly damaging	Het
Star	G	A	8: 25,809,877	M82I	probably benign	Het
Tnfrsf11a	C	T	1: 105,809,360	T64I	probably damaging	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Usp32	A	G	11: 84,994,384		probably null	Het
Vmn2r18	T	C	5: 151,561,683	N782S	probably benign	Het
Vwa3a	A	G	7: 120,800,379	T1028A	probably benign	Het
Xrn2	G	A	2: 147,028,200	G270R	probably damaging	Het
Zbbx	G	T	3: 75,085,495	Q231K	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TAGAGAGGCACGAGTCCATCAC -3'
(R):5'- CAGCTCTGGGTATTTCCTGC -3'

Sequencing Primer
(F):5'- GCACGAGTCCATCACAGAGG -3'
(R):5'- CCATCTGAGCGACTGAGAGTAAC -3'

Posted On

2015-04-02