Mutagenetix > Incidental Mutation

Incidental Mutation 'R8087:Pcdhb4'

629757

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb4

Ensembl Gene

ENSMUSG00000045689

Gene Name

protocadherin beta 4

Synonyms

PcdhbD, Pcdhb5A

MMRRC Submission

067520-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R8087 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37307455-37311172 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 37308664 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 342 (N342K)

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: N342K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000059770
Gene: ENSMUSG00000045689
AA Change: N342K

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: 99.9%
3x: 99.7%
10x: 97.7%
20x: 83.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930451I11Rik	A	G	7: 126,830,880 (GRCm38)	V73A	possibly damaging	Het
A830010M20Rik	T	A	5: 107,485,087 (GRCm38)	Y264N	probably damaging	Het
Abcg1	T	C	17: 31,064,485 (GRCm38)	L48P	probably benign	Het
Ablim1	A	G	19: 57,182,256 (GRCm38)	W18R		Het
Acss1	A	G	2: 150,642,748 (GRCm38)	F192L	probably damaging	Het
Arhgap32	A	G	9: 32,257,028 (GRCm38)	N769S	probably benign	Het
BC004004	T	A	17: 29,294,090 (GRCm38)	L163I	probably damaging	Het
Bco1	A	T	8: 117,108,762 (GRCm38)	T151S	possibly damaging	Het
C1ra	G	A	6: 124,513,872 (GRCm38)	V75I	probably damaging	Het
Cadps	A	C	14: 12,536,380 (GRCm38)	W527G	probably damaging	Het
Calca	T	C	7: 114,632,574 (GRCm38)	N85D	probably benign	Het
Capn13	A	G	17: 73,316,284 (GRCm38)	L644P	probably damaging	Het
Ccdc57	T	C	11: 120,897,879 (GRCm38)	I381V	probably benign	Het
Ccr1	A	G	9: 123,964,334 (GRCm38)	V53A	probably benign	Het
Cd27	G	T	6: 125,233,362 (GRCm38)	A234D	possibly damaging	Het
Cnpy4	T	A	5: 138,190,270 (GRCm38)	V46E	probably damaging	Het
Cspp1	T	G	1: 10,104,264 (GRCm38)	D647E	possibly damaging	Het
Ctnnd1	A	T	2: 84,610,876 (GRCm38)	F660I	possibly damaging	Het
Dchs1	A	T	7: 105,753,499 (GRCm38)	S3279T	probably benign	Het
Ddx11	T	A	17: 66,149,993 (GRCm38)	Y772N	probably damaging	Het
Dennd11	T	A	6: 40,418,592 (GRCm38)	D194V	possibly damaging	Het
Dgkd	T	A	1: 87,916,847 (GRCm38)	V245E	probably damaging	Het
Dmgdh	C	T	13: 93,703,871 (GRCm38)	T270I	possibly damaging	Het
Elac2	A	G	11: 64,979,208 (GRCm38)	H33R	probably benign	Het
Emilin1	T	A	5: 30,917,100 (GRCm38)	D228E	probably damaging	Het
F2rl1	A	G	13: 95,513,999 (GRCm38)	L125P	probably damaging	Het
Fam186a	A	G	15: 99,941,844 (GRCm38)	V2173A	possibly damaging	Het
Foxp4	C	A	17: 47,904,430 (GRCm38)	G30C	probably damaging	Het
Fyn	T	A	10: 39,529,557 (GRCm38)	L273*	probably null	Het
Garnl3	G	T	2: 33,045,536 (GRCm38)	D196E	probably benign	Het
Glb1	A	T	9: 114,430,415 (GRCm38)	T220S	probably damaging	Het
Gm9268	A	T	7: 43,047,670 (GRCm38)	Y717F	probably benign	Het
Hsdl2	G	T	4: 59,592,228 (GRCm38)	A31S	unknown	Het
Irak3	T	A	10: 120,182,535 (GRCm38)	I103F	probably benign	Het
Khdrbs2	A	T	1: 32,414,976 (GRCm38)	M148L	probably benign	Het
Kif2c	A	T	4: 117,165,418 (GRCm38)	S500R	possibly damaging	Het
Kmt2c	T	C	5: 25,329,252 (GRCm38)	Y1500C	probably damaging	Het
Lrp2	T	C	2: 69,448,129 (GRCm38)	D3960G	probably damaging	Het
Map2k6	A	T	11: 110,490,176 (GRCm38)	I39L	probably benign	Het
Muc13	G	T	16: 33,799,027 (GRCm38)	Q48H	unknown	Het
Nlrp1b	A	T	11: 71,172,071 (GRCm38)	I721N	probably benign	Het
Ntsr1	A	T	2: 180,500,172 (GRCm38)		probably benign	Het
Nubp1	T	C	16: 10,420,348 (GRCm38)		probably null	Het
Or2h2c	T	C	17: 37,111,548 (GRCm38)	I145V	probably benign	Het
Ovol3	A	C	7: 30,234,372 (GRCm38)	D108E	probably damaging	Het
Pcgf3	A	G	5: 108,486,236 (GRCm38)	D120G	probably benign	Het
Pde6b	T	C	5: 108,388,462 (GRCm38)	V8A	probably benign	Het
Pkhd1	G	T	1: 20,523,089 (GRCm38)	T1600K	probably damaging	Het
Pkp3	A	G	7: 141,087,638 (GRCm38)	I451V	possibly damaging	Het
Plce1	A	G	19: 38,736,521 (GRCm38)	T1439A	probably damaging	Het
Prr27	C	A	5: 87,846,309 (GRCm38)	N347K	probably benign	Het
Prss41	T	C	17: 23,837,102 (GRCm38)	Y259C	probably damaging	Het
Rasgef1b	T	C	5: 99,221,389 (GRCm38)	I457V	probably benign	Het
Rspry1	G	A	8: 94,654,297 (GRCm38)	V534M	probably benign	Het
Rxrb	T	C	17: 34,035,789 (GRCm38)	V306A	probably benign	Het
Sim1	T	C	10: 50,909,555 (GRCm38)	M240T	possibly damaging	Het
Slc22a4	A	T	11: 53,996,061 (GRCm38)	I285K	possibly damaging	Het
Slc4a2	GGCAGCAGCAGCAGCAGCA	GGCAGCAGCAGCAGCA	5: 24,438,749 (GRCm38)		probably benign	Het
Snx19	T	C	9: 30,464,402 (GRCm38)	M993T	probably benign	Het
Sstr2	G	A	11: 113,624,675 (GRCm38)	R140H	probably damaging	Het
Syne1	C	T	10: 5,333,034 (GRCm38)	R1553Q	probably benign	Het
Tchp	T	C	5: 114,719,604 (GRCm38)	I386T	probably damaging	Het
Tmem273	G	T	14: 32,785,969 (GRCm38)		probably benign	Het
Traf7	G	T	17: 24,512,064 (GRCm38)	S304R	possibly damaging	Het
Trcg1	C	T	9: 57,248,674 (GRCm38)	L798F	probably damaging	Het
Ttc3	C	T	16: 94,442,953 (GRCm38)	P1272L	probably benign	Het
Ttf2	G	T	3: 100,964,096 (GRCm38)	A83E	probably damaging	Het
Uba3	T	A	6: 97,185,383 (GRCm38)	I421F	possibly damaging	Het
Ube3b	T	C	5: 114,412,489 (GRCm38)		probably null	Het
Ulk4	A	G	9: 121,266,251 (GRCm38)	L112P	probably damaging	Het
Unc5a	A	G	13: 54,996,172 (GRCm38)	N150S	probably damaging	Het
Vac14	A	T	8: 110,719,900 (GRCm38)	K760N	probably benign	Het
Vmn2r113	A	T	17: 22,958,737 (GRCm38)	I832L	possibly damaging	Het
Xpot	T	C	10: 121,601,327 (GRCm38)	I830V	probably benign	Het
Zfp101	G	A	17: 33,381,003 (GRCm38)	T593I	probably benign	Het
Zfp54	A	C	17: 21,434,998 (GRCm38)	T585P	probably damaging	Het
Zfp663	T	C	2: 165,353,759 (GRCm38)	D180G	probably benign	Het

Other mutations in Pcdhb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Pcdhb4	APN	18	37,309,916 (GRCm38)	missense	possibly damaging	0.68
IGL01319:Pcdhb4	APN	18	37,308,513 (GRCm38)	missense	probably benign
IGL01325:Pcdhb4	APN	18	37,309,623 (GRCm38)	missense	probably damaging	1.00
IGL01608:Pcdhb4	APN	18	37,308,750 (GRCm38)	missense	probably damaging	1.00
IGL01808:Pcdhb4	APN	18	37,309,014 (GRCm38)	missense	probably damaging	1.00
IGL01962:Pcdhb4	APN	18	37,309,004 (GRCm38)	missense	possibly damaging	0.90
IGL02280:Pcdhb4	APN	18	37,307,682 (GRCm38)	missense	probably benign	0.00
IGL02622:Pcdhb4	APN	18	37,309,668 (GRCm38)	missense	probably benign	0.00
IGL03025:Pcdhb4	APN	18	37,309,977 (GRCm38)	missense	possibly damaging	0.62
IGL03137:Pcdhb4	APN	18	37,308,516 (GRCm38)	missense	probably damaging	0.98
P0031:Pcdhb4	UTSW	18	37,308,885 (GRCm38)	missense	probably damaging	1.00
R0385:Pcdhb4	UTSW	18	37,309,215 (GRCm38)	missense	probably damaging	1.00
R0611:Pcdhb4	UTSW	18	37,308,210 (GRCm38)	missense	probably damaging	1.00
R0671:Pcdhb4	UTSW	18	37,307,742 (GRCm38)	missense	probably benign	0.01
R0738:Pcdhb4	UTSW	18	37,308,711 (GRCm38)	missense	probably damaging	1.00
R0853:Pcdhb4	UTSW	18	37,309,885 (GRCm38)	nonsense	probably null
R0893:Pcdhb4	UTSW	18	37,309,370 (GRCm38)	splice site	probably null
R1932:Pcdhb4	UTSW	18	37,309,541 (GRCm38)	missense	probably benign	0.33
R1945:Pcdhb4	UTSW	18	37,308,868 (GRCm38)	missense	probably damaging	1.00
R2194:Pcdhb4	UTSW	18	37,308,735 (GRCm38)	missense	probably damaging	1.00
R2273:Pcdhb4	UTSW	18	37,308,926 (GRCm38)	missense	probably damaging	1.00
R3807:Pcdhb4	UTSW	18	37,309,314 (GRCm38)	missense	probably damaging	0.98
R3815:Pcdhb4	UTSW	18	37,308,012 (GRCm38)	missense	probably damaging	1.00
R3816:Pcdhb4	UTSW	18	37,308,012 (GRCm38)	missense	probably damaging	1.00
R3974:Pcdhb4	UTSW	18	37,308,848 (GRCm38)	missense	possibly damaging	0.55
R4558:Pcdhb4	UTSW	18	37,309,964 (GRCm38)	missense	probably benign
R4606:Pcdhb4	UTSW	18	37,308,652 (GRCm38)	missense	probably damaging	1.00
R4615:Pcdhb4	UTSW	18	37,308,500 (GRCm38)	missense	probably benign	0.02
R4840:Pcdhb4	UTSW	18	37,308,399 (GRCm38)	missense	possibly damaging	0.60
R5240:Pcdhb4	UTSW	18	37,309,926 (GRCm38)	missense	possibly damaging	0.78
R5272:Pcdhb4	UTSW	18	37,307,766 (GRCm38)	missense	probably benign	0.04
R5586:Pcdhb4	UTSW	18	37,308,981 (GRCm38)	missense	probably damaging	1.00
R5683:Pcdhb4	UTSW	18	37,308,989 (GRCm38)	missense	probably benign	0.45
R5917:Pcdhb4	UTSW	18	37,309,566 (GRCm38)	missense	probably damaging	1.00
R6110:Pcdhb4	UTSW	18	37,308,429 (GRCm38)	missense	possibly damaging	0.80
R6383:Pcdhb4	UTSW	18	37,308,021 (GRCm38)	missense	probably damaging	1.00
R6877:Pcdhb4	UTSW	18	37,309,572 (GRCm38)	missense	probably damaging	1.00
R7036:Pcdhb4	UTSW	18	37,308,782 (GRCm38)	missense	possibly damaging	0.95
R7204:Pcdhb4	UTSW	18	37,309,239 (GRCm38)	missense	probably damaging	1.00
R7271:Pcdhb4	UTSW	18	37,308,169 (GRCm38)	missense	possibly damaging	0.89
R7436:Pcdhb4	UTSW	18	37,309,275 (GRCm38)	missense	probably damaging	1.00
R7444:Pcdhb4	UTSW	18	37,309,452 (GRCm38)	missense	probably damaging	1.00
R7614:Pcdhb4	UTSW	18	37,309,549 (GRCm38)	missense	probably benign	0.40
R7650:Pcdhb4	UTSW	18	37,309,614 (GRCm38)	missense	probably damaging	1.00
R7664:Pcdhb4	UTSW	18	37,309,240 (GRCm38)	missense	probably damaging	1.00
R8080:Pcdhb4	UTSW	18	37,309,296 (GRCm38)	missense	probably benign	0.42
R8115:Pcdhb4	UTSW	18	37,309,400 (GRCm38)	missense	probably damaging	0.99
R8697:Pcdhb4	UTSW	18	37,308,779 (GRCm38)	missense	probably benign	0.15
R8815:Pcdhb4	UTSW	18	37,309,002 (GRCm38)	missense	probably damaging	1.00
R9008:Pcdhb4	UTSW	18	37,307,661 (GRCm38)	missense	probably benign
R9225:Pcdhb4	UTSW	18	37,308,642 (GRCm38)	missense	possibly damaging	0.68
R9278:Pcdhb4	UTSW	18	37,308,872 (GRCm38)	missense	possibly damaging	0.61
R9299:Pcdhb4	UTSW	18	37,309,211 (GRCm38)	missense	probably benign	0.02
R9390:Pcdhb4	UTSW	18	37,309,728 (GRCm38)	missense	possibly damaging	0.80
R9582:Pcdhb4	UTSW	18	37,308,364 (GRCm38)	missense	probably damaging	1.00
R9686:Pcdhb4	UTSW	18	37,309,890 (GRCm38)	missense	probably damaging	0.98
R9721:Pcdhb4	UTSW	18	37,309,852 (GRCm38)	missense	possibly damaging	0.70
Z1177:Pcdhb4	UTSW	18	37,309,913 (GRCm38)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AGGTGATGGAGACTCCCAAC -3'
(R):5'- ATGTTGTACTCAGCGATACTCTCTC -3'

Sequencing Primer
(F):5'- GTGATGGAGACTCCCAACCATTTG -3'
(R):5'- AGTGGCCTCTCTGTCGCTAAAG -3'

Posted On

2020-06-30