Mutagenetix > Incidental Mutation

Incidental Mutation 'R0611:Pcdhb4'

54770

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb4

Ensembl Gene

ENSMUSG00000045689

Gene Name

protocadherin beta 4

Synonyms

PcdhbD, Pcdhb5A

MMRRC Submission

038800-MU

Accession Numbers

Ncbi RefSeq: NM_053129.3; MGI:2136738

Essential gene?

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

Stock #

R0611 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37307455-37311172 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37308210 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 191 (Y191C)

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: Y191C

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

SMART Domains

Protein: ENSMUSP00000059770
Gene: ENSMUSG00000045689
AA Change: Y191C

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

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	A	7: 120,252,256	M819K	possibly damaging	Het
Adamtsl3	T	G	7: 82,528,912	C528G	probably damaging	Het
Akap9	A	G	5: 3,954,870	K148E	probably benign	Het
Akr1b3	A	T	6: 34,309,642	D225E	probably benign	Het
Alms1	C	A	6: 85,678,671	Q2931K	possibly damaging	Het
Ano3	T	C	2: 110,885,001	K31E	possibly damaging	Het
Cdc37	A	G	9: 21,142,241	I242T	probably damaging	Het
Celsr1	T	A	15: 85,932,323	K1806N	possibly damaging	Het
Clpb	T	A	7: 101,787,749	I707N	possibly damaging	Het
Cntnap2	A	T	6: 47,095,549	Y1017F	possibly damaging	Het
Creb3l2	A	T	6: 37,334,481	S458T	probably benign	Het
Ctnnd2	C	A	15: 31,009,084	T1109K	possibly damaging	Het
Dcaf10	T	A	4: 45,373,011	L425Q	probably damaging	Het
Dlec1	A	G	9: 119,112,099	E239G	probably benign	Het
Dnah2	T	C	11: 69,499,194	K742E	probably damaging	Het
Dsp	A	T	13: 38,187,741	R889S	probably damaging	Het
Dync1h1	T	A	12: 110,632,788	M1859K	probably damaging	Het
Efcab7	T	A	4: 99,901,689	N361K	probably damaging	Het
Eps8l2	T	C	7: 141,355,733	V139A	probably damaging	Het
Fads3	T	G	19: 10,041,836	H35Q	probably damaging	Het
Fam163b	C	A	2: 27,113,571	V24F	probably damaging	Het
Gm14496	A	T	2: 181,995,111	T121S	probably benign	Het
Gm4799	C	T	10: 82,954,729		noncoding transcript	Het
Gm7168	A	T	17: 13,949,535	D388V	probably benign	Het
Gmeb1	A	T	4: 132,226,075	L460*	probably null	Het
Gpc6	T	G	14: 117,975,018	F534V	probably null	Het
Hectd3	A	G	4: 116,996,044	D156G	possibly damaging	Het
Itga6	T	C	2: 71,820,060	I150T	possibly damaging	Het
Kansl1	A	G	11: 104,338,186	M863T	probably benign	Het
Kcnb2	A	T	1: 15,710,440	Y512F	probably benign	Het
Klhdc2	A	T	12: 69,300,279	M73L	probably benign	Het
Ktn1	A	G	14: 47,694,616	T667A	probably benign	Het
Lgsn	A	C	1: 31,203,655	I273L	probably benign	Het
Lilra5	A	G	7: 4,242,233	D292G	probably benign	Het
Mrps27	C	T	13: 99,405,074	R229C	probably damaging	Het
Muc5b	T	G	7: 141,862,436	S3040A	probably benign	Het
Nat14	T	C	7: 4,923,276	S7P	probably damaging	Het
Nfia	A	G	4: 97,783,457	I135V	possibly damaging	Het
Nkd1	G	A	8: 88,522,316	A30T	probably damaging	Het
Nup205	A	G	6: 35,225,968	D1370G	probably null	Het
Olfr282	T	C	15: 98,438,287	S273P	possibly damaging	Het
Olfr344	C	G	2: 36,569,556		probably null	Het
Olfr507	T	A	7: 108,622,287	N158K	possibly damaging	Het
Olfr633	T	C	7: 103,947,193	L209P	probably damaging	Het
Olfr726	G	A	14: 50,083,853	T276I	probably damaging	Het
Orc1	C	T	4: 108,602,032	A466V	probably benign	Het
Otud7a	T	A	7: 63,735,890	D367E	possibly damaging	Het
Pclo	T	C	5: 14,678,775		probably benign	Het
Pclo	T	C	5: 14,712,814	V3767A	unknown	Het
Prmt1	A	T	7: 44,978,801		probably null	Het
Ralgapa1	A	G	12: 55,795,698	F62S	probably damaging	Het
Rangrf	T	C	11: 68,972,692	S163G	probably benign	Het
Rgs12	C	A	5: 35,019,460	A65E	probably damaging	Het
Rrbp1	T	C	2: 143,988,516	N577S	probably damaging	Het
Sept11	A	G	5: 93,167,534	H374R	probably damaging	Het
Serpina5	T	G	12: 104,103,787	N314K	probably benign	Het
Sgce	T	C	6: 4,689,621	D395G	probably damaging	Het
Slc26a9	A	T	1: 131,762,761	N501I	probably damaging	Het
Slc9c1	A	G	16: 45,581,602	D784G	possibly damaging	Het
Snapc2	A	G	8: 4,255,676	D207G	probably benign	Het
Stard9	G	T	2: 120,699,257	M1998I	probably benign	Het
Stk38	A	C	17: 28,975,933	F280V	possibly damaging	Het
Tas2r126	A	G	6: 42,435,091	K186R	probably damaging	Het
Tdp1	A	C	12: 99,909,711	D307A	probably benign	Het
Tead2	A	G	7: 45,217,250	D11G	probably damaging	Het
Tmco4	C	A	4: 139,020,072	L211I	probably damaging	Het
Tmem183a	A	G	1: 134,352,377	F255S	probably damaging	Het
Tmem87a	C	T	2: 120,375,448	G349S	possibly damaging	Het
Tpte	G	A	8: 22,336,533	E377K	possibly damaging	Het
Trim32	T	C	4: 65,613,656	F150S	possibly damaging	Het
Trpc7	T	A	13: 56,887,823	K99M	probably damaging	Het
Ttc22	A	G	4: 106,634,184	K195E	probably damaging	Het
Txn2	G	A	15: 77,927,717	P7S	probably damaging	Het
Ubxn2a	G	A	12: 4,880,700	T220I	probably damaging	Het
Ufd1	A	G	16: 18,814,876	N17S	possibly damaging	Het
Unc13a	A	G	8: 71,649,865	S958P	probably damaging	Het
Vmn1r202	T	A	13: 22,501,654	M198L	probably damaging	Het
Vmn2r84	G	A	10: 130,386,122	A743V	probably damaging	Het
Washc5	A	G	15: 59,341,158	F891S	probably damaging	Het
Zfp708	T	C	13: 67,070,311	T495A	probably benign	Het
Zfp81	A	G	17: 33,334,619	I407T	probably benign	Het
Zswim5	T	C	4: 116,986,677		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
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

Predicted Primers

PCR Primer
(F):5'- ACGGAAATGCTCCTAACAATCCCTG -3'
(R):5'- AATCCCTAGCAGAGACCGTGACAAG -3'

Sequencing Primer
(F):5'- TCCTAACAATCCCTGAGAGCG -3'
(R):5'- GGGAACCTGCACCTCATAGAG -3'

Posted On

2013-07-11