Mutagenetix > Incidental Mutation

Incidental Mutation 'R2273:Pcdhb4'

242681

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb4

Ensembl Gene

ENSMUSG00000045689

Gene Name

protocadherin beta 4

Synonyms

PcdhbD, Pcdhb5A

MMRRC Submission

040273-MU

Accession Numbers

Ncbi RefSeq: NM_053129.3; MGI:2136738

Essential gene?

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

Stock #

R2273 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37307455-37311172 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37308926 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 430 (L430F)

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: L430F

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

SMART Domains

Protein: ENSMUSP00000059770
Gene: ENSMUSG00000045689
AA Change: L430F

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	T	11: 99,837,841	C59S	possibly damaging	Het
Abca5	A	T	11: 110,275,281	N1556K	possibly damaging	Het
Ackr1	T	C	1: 173,332,485	N156D	probably benign	Het
Ank3	T	A	10: 69,950,942		probably null	Het
Arhgef7	T	A	8: 11,815,010	F374Y	possibly damaging	Het
Armc4	C	A	18: 7,223,676	G456W	probably benign	Het
Atp11b	A	G	3: 35,828,613	I606V	probably benign	Het
Atp6v1h	T	A	1: 5,117,476	D222E	probably damaging	Het
Bco1	G	A	8: 117,108,783		probably null	Het
Cacna1g	T	A	11: 94,415,936	E1842V	probably damaging	Het
Calhm3	T	A	19: 47,157,547	Q73L	probably damaging	Het
Cdc42bpb	C	T	12: 111,302,167	E1200K	probably damaging	Het
Cdr2	A	T	7: 120,958,509	H264Q	possibly damaging	Het
Cecr2	C	T	6: 120,756,741	S563L	probably benign	Het
Cfh	C	T	1: 140,102,825	V824M	probably damaging	Het
Ciapin1	A	T	8: 94,831,787	V99E	probably damaging	Het
Col9a2	C	G	4: 121,054,258	R599G	probably damaging	Het
Cpxm2	TGCAGCAGCAGCAGCAGCAG	TGCAGCAGCAGCAGCAG	7: 132,059,852		probably benign	Het
Crim1	T	C	17: 78,355,179		probably null	Het
D7Ertd443e	A	G	7: 134,270,201	S644P	probably damaging	Het
Dnlz	A	T	2: 26,351,471	C82S	probably damaging	Het
F11	T	C	8: 45,252,147	D119G	possibly damaging	Het
Fat3	T	C	9: 15,915,262	T4465A	probably benign	Het
Fdxacb1	A	G	9: 50,772,021	E428G	probably benign	Het
Fn1	C	T	1: 71,613,943	G1296R	probably null	Het
Gm11568	A	G	11: 99,858,244	S92G	unknown	Het
Gpr158	A	T	2: 21,826,863	M925L	probably benign	Het
Hivep2	T	C	10: 14,132,443	M1595T	probably benign	Het
Hoxd1	A	G	2: 74,764,157	K252R	probably damaging	Het
Ift88	A	G	14: 57,488,936	K684E	possibly damaging	Het
Iqck	G	A	7: 118,899,657	D173N	possibly damaging	Het
Kcnc1	A	G	7: 46,427,802	N343D	probably damaging	Het
Kifap3	T	A	1: 163,868,758	V652D	possibly damaging	Het
Lrig1	A	T	6: 94,608,143	D840E	probably damaging	Het
Lrrc7	A	G	3: 158,187,059	S318P	probably damaging	Het
Map1b	A	C	13: 99,432,084	D1376E	unknown	Het
March1	T	A	8: 66,387,499	N311K	probably benign	Het
Mier2	T	C	10: 79,544,534	I321V	probably damaging	Het
Mrc1	G	A	2: 14,325,372	R1264Q	probably damaging	Het
Nrarp	T	C	2: 25,181,409	V100A	possibly damaging	Het
Nt5c1a	T	C	4: 123,216,080	F324S	probably damaging	Het
Olfr1170	A	G	2: 88,224,823	F70L	probably benign	Het
Olfr314	T	C	11: 58,786,666	V144A	probably benign	Het
Olfr781	T	C	10: 129,333,457	I192T	probably benign	Het
Olfr998	G	T	2: 85,590,588	G16V	probably damaging	Het
Ptpn2	T	G	18: 67,677,802	M256L	probably damaging	Het
Rph3a	C	T	5: 120,973,304	R71H	probably damaging	Het
Rrm2b	T	A	15: 37,945,051	D148V	possibly damaging	Het
Setx	GTGGCT	GT	2: 29,154,061	1814	probably null	Het
Slc12a3	T	A	8: 94,333,287	I187N	possibly damaging	Het
Slc46a1	T	G	11: 78,466,423	S101A	probably benign	Het
Sned1	T	A	1: 93,281,642		probably null	Het
Sult1d1	T	G	5: 87,556,028	N266T	probably damaging	Het
Tjp2	G	T	19: 24,112,807	H624N	probably benign	Het
Tmcc3	G	A	10: 94,578,915	V160I	probably damaging	Het
Tsr1	A	T	11: 74,904,827		probably null	Het
Tyrp1	A	T	4: 80,837,534	E180V	probably damaging	Het
Ubr3	T	C	2: 70,016,341	V1636A	probably benign	Het
Usp1	T	C	4: 98,929,842	L139P	probably damaging	Het
Vldlr	A	T	19: 27,248,015	T859S	probably damaging	Het
Vmn1r232	A	G	17: 20,914,203	L45P	probably benign	Het
Vmn2r94	T	A	17: 18,257,331	M273L	probably benign	Het
Zc3h6	T	C	2: 129,014,709	Y570H	probably benign	Het
Zhx2	A	G	15: 57,823,169	S645G	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
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'- AAACTCCCCAGAGACTGTCG -3'
(R):5'- CAGCGTTGATGGAGATGAGC -3'

Sequencing Primer
(F):5'- CCAGAGACTGTCGTTGCAG -3'
(R):5'- AGGAGAGGGCCAGCTGC -3'

Posted On

2014-10-16