Mutagenetix > Incidental Mutation

Incidental Mutation 'R7204:Pcdhb4'

560482

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 #

R7204 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37307455-37311172 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37309239 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 534 (D534V)

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: D534V

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

SMART Domains

Protein: ENSMUSP00000059770
Gene: ENSMUSG00000045689
AA Change: D534V

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

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (75/76)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067K01Rik	T	C	8: 84,004,007	S227P	probably damaging	Het
4930444G20Rik	A	G	10: 22,067,886	L65P	probably damaging	Het
9130019O22Rik	A	T	7: 127,384,346	I528K	possibly damaging	Het
Acot6	A	G	12: 84,106,527	H181R	probably benign	Het
Adam15	A	T	3: 89,346,937	H184Q	probably benign	Het
Agl	A	G	3: 116,793,820	F29L	probably benign	Het
Ak7	A	G	12: 105,742,243	Y319C	probably benign	Het
Ano8	C	A	8: 71,479,025	V813L	probably benign	Het
Apbb2	T	G	5: 66,451,603	K234Q	probably damaging	Het
Arfgef3	A	T	10: 18,646,462	D605E	probably damaging	Het
Bfsp2	C	A	9: 103,432,666	R340L	probably damaging	Het
Birc6	C	A	17: 74,640,108	P2956T	probably damaging	Het
C1rb	T	C	6: 124,577,427	I389T	probably benign	Het
Ccdc146	A	G	5: 21,308,626	F498S	probably benign	Het
Cdc14b	A	C	13: 64,210,198	V361G	possibly damaging	Het
Cdc25b	A	T	2: 131,191,632	I164F	probably damaging	Het
Col18a1	A	G	10: 77,085,276	S297P	unknown	Het
Col3a1	A	T	1: 45,322,418	I117F	unknown	Het
Cox4i2	AG	A	2: 152,760,698		probably null	Het
Crybg3	C	A	16: 59,558,890	G667V	probably benign	Het
Ctc1	A	G	11: 69,029,741	D623G	probably damaging	Het
Dennd1a	A	T	2: 38,039,203	H152Q	probably damaging	Het
Dgke	G	A	11: 89,041,480	P495S	probably damaging	Het
Dll3	A	T	7: 28,298,905	C212S	possibly damaging	Het
Dll4	A	T	2: 119,328,573	S235C	probably damaging	Het
Dnah12	G	A	14: 26,778,912		probably null	Het
Dnah12	A	T	14: 26,781,485	T1599S	probably damaging	Het
Elavl1	G	A	8: 4,311,712	T20M	probably damaging	Het
Epha3	T	C	16: 63,652,332	T397A	probably benign	Het
Fanca	A	T	8: 123,286,477	I859N	probably damaging	Het
Fzd1	A	T	5: 4,755,980	V534D	probably damaging	Het
Glmp	A	G	3: 88,326,610	Y258C	probably damaging	Het
Gm9195	G	A	14: 72,474,186	P329S	probably damaging	Het
Gm9573	AGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCAGTGCTGGATACAGTGGTGGTC	AGCTGGATACAGTGGTGGTC	17: 35,621,213		probably benign	Het
Gpt	A	G	15: 76,698,999	R379G	probably benign	Het
Gsdmc2	T	C	15: 63,825,054	T423A	probably damaging	Het
Hemgn	T	C	4: 46,397,054	K61E	possibly damaging	Het
Ikzf4	A	T	10: 128,643,890	S56T	possibly damaging	Het
Jak1	T	C	4: 101,175,135	T425A	probably benign	Het
Jsrp1	T	C	10: 80,810,485	T80A	probably benign	Het
Klra9	T	A	6: 130,188,680	D124V	possibly damaging	Het
Lama5	A	T	2: 180,202,177	V397D	probably damaging	Het
Lrp2	A	G	2: 69,472,533	S2951P	probably benign	Het
Map7d1	A	G	4: 126,256,015		probably null	Het
Mcm6	A	T	1: 128,338,127	C636S	probably damaging	Het
Mia	T	C	7: 27,180,933	E39G	possibly damaging	Het
Mpeg1	T	A	19: 12,462,894	I572N	probably damaging	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,634,450		probably null	Het
Mup5	A	G	4: 61,833,755	Y86H	probably damaging	Het
Nckap5	A	T	1: 126,026,367	V816D	probably benign	Het
Nfib	T	C	4: 82,296,815		probably null	Het
Nlrc5	T	A	8: 94,491,525	V1056D	possibly damaging	Het
Nynrin	G	C	14: 55,872,733	E1766Q	probably damaging	Het
Olfr39	A	T	9: 20,285,804	Y43F	probably benign	Het
Oxct1	T	A	15: 4,094,042	L328Q	probably damaging	Het
Pax5	T	A	4: 44,679,485	I187F	possibly damaging	Het
Pebp4	C	T	14: 69,847,597	P35S	probably benign	Het
Pkhd1l1	T	A	15: 44,523,553	V1274E	possibly damaging	Het
Plcz1	A	T	6: 140,010,424	V373D	probably benign	Het
Plxnb1	C	T	9: 109,100,175	T33I	probably damaging	Het
Prag1	T	C	8: 36,146,761	C1156R	probably benign	Het
Ptprc	T	A	1: 138,117,862	I87F	probably benign	Het
Rbp4	G	A	19: 38,124,103	T138I	possibly damaging	Het
Slc12a1	A	T	2: 125,200,622	N733Y	possibly damaging	Het
Slc27a3	A	G	3: 90,389,726	V22A	probably benign	Het
Tcaf1	T	C	6: 42,675,039		probably null	Het
Tnc	T	C	4: 63,971,155		probably null	Het
Tspan31	A	T	10: 127,068,118	*211R	probably null	Het
Ttc17	A	T	2: 94,362,428	V86D	possibly damaging	Het
Ubr1	T	A	2: 120,904,077	N1114I	possibly damaging	Het
Ulk2	C	T	11: 61,783,631	G850R	probably benign	Het
Vmn1r13	T	A	6: 57,210,156	I100N	probably benign	Het
Zan	T	C	5: 137,427,978	D2512G	unknown	Het
Zc3h14	A	T	12: 98,771,356	N34I	probably damaging	Het
Zcwpw1	T	G	5: 137,812,084	L374R	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
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
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
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'- TGCACATAGGCACCATCAG -3'
(R):5'- ATGACAGCCAGGCATTCTG -3'

Sequencing Primer
(F):5'- GTGCCACAGACTCAGACTCG -3'
(R):5'- AGGCATTCTGACCAGAGTCG -3'

Posted On

2019-06-26