Mutagenetix > Incidental Mutation

Incidental Mutation 'R9278:Pcdhb4'

703477

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 #

R9278 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37307455-37311172 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37308872 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 412 (S412G)

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: S412G

PolyPhen 2 Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000059770
Gene: ENSMUSG00000045689
AA Change: S412G

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: 93.4%
3x: 93.4%
10x: 93.2%
20x: 92.9%

Validation Efficiency

97% (77/79)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	A	17: 13,804,008	C59S	probably damaging	Het
Aicda	C	T	6: 122,561,895	A161V	possibly damaging	Het
Ankrd12	C	T	17: 66,037,604	E91K	possibly damaging	Het
Arpc2	C	A	1: 74,236,882	F19L	probably benign	Het
Aspa	T	C	11: 73,324,454	K12E	possibly damaging	Het
Chd8	G	A	14: 52,235,170	P392L	probably benign	Het
Cldn10	C	T	14: 118,874,235	R206W	probably damaging	Het
Clec4b2	T	A	6: 123,204,265	M203K	probably damaging	Het
Clec4d	T	C	6: 123,274,690	M177T	probably benign	Het
Clec4d	G	T	6: 123,274,692	E178*	probably null	Het
Cmpk2	A	T	12: 26,469,569	Y73F	probably benign	Het
Col1a1	T	A	11: 94,947,277	V845D	unknown	Het
Cyp2c67	C	T	19: 39,609,255	R433Q	probably damaging	Het
Dda1	A	T	8: 71,474,486		probably null	Het
Ddx60	A	T	8: 61,977,978	Y849F	possibly damaging	Het
Dnm2	C	T	9: 21,505,681	R837W	possibly damaging	Het
Dtwd1	C	T	2: 126,164,808	T250I	probably damaging	Het
Efcab6	A	G	15: 83,892,893	V1114A	probably damaging	Het
Fat4	A	G	3: 38,891,022	T1355A	probably benign	Het
Fbxo40	T	G	16: 36,969,578	D390A	possibly damaging	Het
Gm7534	A	G	4: 134,195,459	L521P	probably damaging	Het
Gnaz	T	A	10: 74,991,605	L63Q	probably benign	Het
H6pd	T	A	4: 149,995,850	K179N	probably damaging	Het
Hmgb2	A	G	8: 57,512,752		probably benign	Het
Hps5	A	G	7: 46,790,973	F18L	probably benign	Het
Hyal5	A	G	6: 24,876,695	E189G	probably benign	Het
Ifnar1	T	A	16: 91,505,125	I496N	probably damaging	Het
Igf2r	C	A	17: 12,695,353	C1743F	probably damaging	Het
Igfn1	C	A	1: 135,973,447	R431L	probably damaging	Het
Itch	A	G	2: 155,203,297	Q507R	probably benign	Het
Kbtbd2	C	A	6: 56,780,346	R135L	probably damaging	Het
Kcnn2	T	C	18: 45,592,379	I314T	probably damaging	Het
Lix1	A	G	17: 17,402,949	D2G	probably damaging	Het
Lrp1b	T	C	2: 40,597,064	Y4557C		Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Mcam	G	T	9: 44,135,176		probably benign	Het
Med19	G	T	2: 84,678,631	G63C	probably damaging	Het
Mfsd4b1	C	T	10: 40,007,334	R40H	probably damaging	Het
Neb	C	T	2: 52,256,178	R2929H	probably damaging	Het
Nlrc5	A	G	8: 94,511,280	D1434G	probably benign	Het
Nlrp14	A	T	7: 107,197,842	N972I	probably damaging	Het
Olfr1247	A	C	2: 89,609,604	F166C	probably damaging	Het
Olfr128	A	T	17: 37,924,384	M273L	probably benign	Het
Olfr132	A	T	17: 38,130,802	L130Q	probably damaging	Het
Olfr46	T	C	7: 140,611,023	Y278H	probably damaging	Het
Olfr947-ps1	A	G	9: 39,289,485	V135A	probably benign	Het
Otop1	T	C	5: 38,302,815	V575A	probably damaging	Het
Pcsk4	T	C	10: 80,325,390	D230G	probably damaging	Het
Phldb2	C	A	16: 45,825,945	S46I	probably damaging	Het
Pik3ca	A	T	3: 32,454,438	N785I	probably damaging	Het
Polr2b	A	G	5: 77,323,638	R274G	probably damaging	Het
Prkdc	G	A	16: 15,816,659		probably null	Het
Prune2	C	T	19: 17,123,780	T2216I	probably benign	Het
Psma3	A	T	12: 70,994,382	D252V	probably benign	Het
Rnf213	T	C	11: 119,435,942	V1586A		Het
Ryr2	T	C	13: 11,883,090	T140A	probably benign	Het
Slc25a48	A	G	13: 56,463,739	I220V	probably benign	Het
Slc2a1	A	T	4: 119,133,410	E246D	probably benign	Het
Slc45a4	A	G	15: 73,586,357	Y448H	probably benign	Het
Sorl1	C	T	9: 42,046,561	V596I	probably benign	Het
Spag6	A	C	2: 18,699,174	E11A	probably benign	Het
Spef2	A	G	15: 9,727,409		probably null	Het
Spon1	T	C	7: 114,028,953	S315P	probably damaging	Het
Stard3	G	A	11: 98,372,105		probably benign	Het
Sv2c	A	G	13: 95,976,081	M636T	probably damaging	Het
Syt17	T	A	7: 118,434,257	D172V	probably damaging	Het
Tcf4	A	G	18: 69,633,581	Y206C	probably damaging	Het
Tead2	G	T	7: 45,231,352	S318I	probably benign	Het
Tom1	A	T	8: 75,057,255	D289V	probably damaging	Het
Tonsl	A	G	15: 76,636,771		probably benign	Het
Tsen15	T	C	1: 152,383,347	I87V	probably damaging	Het
Ttc30a2	T	C	2: 75,977,031	D379G	probably damaging	Het
Usp15	A	G	10: 123,171,207	F123S	probably damaging	Het
Vmn1r220	A	T	13: 23,184,088	I146N	possibly damaging	Het
Vmn2r108	A	T	17: 20,472,299	N98K	probably benign	Het
Vmn2r71	T	A	7: 85,620,580	M433K	probably benign	Het
Vmn2r97	A	T	17: 18,914,500	H60L	probably benign	Het
Wbp4	A	G	14: 79,462,046	V336A	probably benign	Het
Zfp663	T	C	2: 165,360,090		probably null	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
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
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'- TGATAACGCCCCAGAGTTGAC -3'
(R):5'- ACTGATGGTGCCTATGTGCAG -3'

Sequencing Primer
(F):5'- AGAGTTGACGGTCTCTACGCTC -3'
(R):5'- TGCCTATGTGCAGGGCGG -3'

Posted On

2022-03-25