Mutagenetix > Incidental Mutation

Incidental Mutation 'R4840:Pcdhb4'

371784

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb4

Ensembl Gene

ENSMUSG00000045689

Gene Name

protocadherin beta 4

Synonyms

PcdhbD, Pcdhb5A

MMRRC Submission

042453-MU

Accession Numbers

Ncbi RefSeq: NM_053129.3; MGI:2136738

Essential gene?

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

Stock #

R4840 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37307455-37311172 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37308399 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 254 (N254S)

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: N254S

PolyPhen 2 Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000059770
Gene: ENSMUSG00000045689
AA Change: N254S

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

Meta Mutation Damage Score

0.0858

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

97% (114/117)

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	C	A	1: 86,046,444	T161K	probably benign	Het
Actn3	G	A	19: 4,864,511	R530W	probably damaging	Het
Alg11	C	T	8: 22,068,010	A404V	possibly damaging	Het
Alkbh8	T	A	9: 3,369,751	V340D	probably damaging	Het
Arhgef12	T	C	9: 42,975,068	H1166R	probably benign	Het
Aspm	T	A	1: 139,470,531	D978E	possibly damaging	Het
Bod1l	C	T	5: 41,818,472	G1833D	probably damaging	Het
Brd3	A	G	2: 27,449,239	V676A	possibly damaging	Het
Brip1	G	A	11: 86,146,183	T454I	possibly damaging	Het
C3ar1	T	C	6: 122,850,764	I165V	probably benign	Het
C87977	T	C	4: 144,208,574	K199R	probably damaging	Het
Camta1	T	A	4: 151,144,407	Q656L	probably benign	Het
Casp14	A	T	10: 78,713,344	L256*	probably null	Het
Cdh23	G	T	10: 60,419,777	H773Q	possibly damaging	Het
Chd1	G	A	17: 15,768,753	W1589*	probably null	Het
Chd1	G	T	17: 15,768,754	D1590Y	probably damaging	Het
Cldn19	A	G	4: 119,255,754	Q61R	probably damaging	Het
Cyp2a22	A	G	7: 26,932,524	S436P	probably benign	Het
E130218I03Rik	A	G	4: 134,245,276		probably benign	Het
Emc10	A	C	7: 44,492,627	V124G	probably damaging	Het
Enam	A	T	5: 88,503,026	D723V	probably benign	Het
Eps8	C	A	6: 137,527,130	Q158H	probably damaging	Het
Ercc6	G	A	14: 32,541,296	D486N	probably damaging	Het
Fasn	T	C	11: 120,813,059	E1485G	possibly damaging	Het
Fat2	T	C	11: 55,279,018	K2972E	probably benign	Het
Fbxw28	T	C	9: 109,339,534	K30R	probably null	Het
Flot2	T	A	11: 78,057,513	L164Q	probably damaging	Het
Fsip2	A	T	2: 82,949,395	I162L	probably benign	Het
Fsip2	A	T	2: 82,985,471	L3849F	probably benign	Het
Gabrb1	C	G	5: 71,700,811	P60R	probably damaging	Het
Galnt14	T	C	17: 73,504,898	R443G	probably benign	Het
Gas8	C	T	8: 123,531,014	T400M	probably benign	Het
Gfap	T	C	11: 102,894,388	Y254C	probably damaging	Het
Git2	A	G	5: 114,745,482	S396P	probably damaging	Het
Glb1l3	A	T	9: 26,829,053	M327K	probably benign	Het
Gm10715	A	C	9: 3,038,062		probably benign	Het
Gm10787	G	A	10: 77,022,007		noncoding transcript	Het
Gm1123	T	A	9: 99,018,569	D78V	probably damaging	Het
Gm27013	T	C	6: 130,678,116	T128A	probably benign	Het
Gm8979	T	C	7: 106,081,420		noncoding transcript	Het
Gpbp1	A	G	13: 111,440,630		probably null	Het
Gphn	G	A	12: 78,522,955		probably null	Het
Gpr157	A	G	4: 150,102,366	E317G	probably benign	Het
Gsdmc4	T	A	15: 63,893,747	M318L	probably benign	Het
Gtf2f2	A	T	14: 76,010,691	W19R	probably damaging	Het
Helb	A	G	10: 120,084,858	V1060A	probably benign	Het
Igfn1	C	T	1: 135,968,040	G1596D	probably benign	Het
Il1rl2	T	C	1: 40,327,387	I27T	possibly damaging	Het
Inpp5j	A	G	11: 3,499,676	V702A	probably damaging	Het
Kmt2d	A	C	15: 98,861,894	V1161G	unknown	Het
Krtap1-3	T	G	11: 99,590,889	Y144S	possibly damaging	Het
Layn	C	T	9: 51,057,382	V354M	probably damaging	Het
Lrba	G	A	3: 86,619,509		probably null	Het
Lrp8	T	A	4: 107,870,037	L893Q	possibly damaging	Het
Mrps9	T	A	1: 42,898,415		probably benign	Het
Mug1	T	A	6: 121,885,854	M1387K	probably damaging	Het
Myo18b	A	C	5: 112,874,029	V499G	probably benign	Het
Nbea	T	C	3: 55,710,670	E2321G	probably benign	Het
Nrsn2	C	T	2: 152,369,632	V160I	probably benign	Het
Nup210	G	A	6: 91,031,668	Q510*	probably null	Het
Ofcc1	G	A	13: 40,015,388	T841I	probably damaging	Het
Olfr693	T	G	7: 106,678,123	D121A	probably damaging	Het
P3h3	G	T	6: 124,850,637	Q479K	possibly damaging	Het
Paqr9	T	A	9: 95,560,670	F238I	probably damaging	Het
Parp3	A	T	9: 106,473,109	L343H	probably damaging	Het
Pcdh18	A	C	3: 49,744,668	M1115R	probably damaging	Het
Pcdh8	A	G	14: 79,770,868	V85A	possibly damaging	Het
Pld1	T	C	3: 28,076,551	V500A	probably benign	Het
Prkg2	A	T	5: 98,981,143	D311E	probably benign	Het
Prss42	T	C	9: 110,799,301	L171P	probably damaging	Het
Pth2	T	A	7: 45,181,343	L17H	probably damaging	Het
Reln	A	T	5: 22,018,846		probably null	Het
Rmi2	G	T	16: 10,839,837	V104L	probably damaging	Het
Rpusd4	T	A	9: 35,268,535	V108D	probably damaging	Het
Rufy4	C	A	1: 74,129,039	T82K	possibly damaging	Het
Scimp	G	A	11: 70,791,468	Q141*	probably null	Het
Sel1l2	T	C	2: 140,263,470	T267A	probably benign	Het
Sema5a	T	A	15: 32,550,254	S146R	possibly damaging	Het
Sh2d3c	T	C	2: 32,721,160	M1T	probably null	Het
Slc30a6	T	C	17: 74,405,721	L71P	probably damaging	Het
Srrm3	A	G	5: 135,854,595	Y224C	possibly damaging	Het
Tacr3	A	T	3: 134,854,854	T185S	possibly damaging	Het
Tas2r140	T	A	6: 133,055,565	T77S	probably benign	Het
Thsd7b	T	C	1: 129,595,844	V128A	probably benign	Het
Tnfrsf10b	T	G	14: 69,776,159	H179Q	probably damaging	Het
Tonsl	A	G	15: 76,633,209	V770A	probably benign	Het
Trim42	G	A	9: 97,362,929	P606L	probably benign	Het
Trim45	A	T	3: 100,925,488	T346S	possibly damaging	Het
Ttc28	C	A	5: 111,286,081	S2296Y	probably damaging	Het
Ttc41	C	T	10: 86,731,125	R552C	probably benign	Het
Tube1	A	G	10: 39,144,846	N243D	probably benign	Het
Tvp23b	G	T	11: 62,879,598		probably null	Het
Ubxn11	T	A	4: 134,109,608	I49N	probably damaging	Het
Usp17le	T	A	7: 104,769,770	E55V	probably benign	Het
Vmn2r114	A	T	17: 23,291,379	V709D	probably damaging	Het
Vmn2r23	C	T	6: 123,713,074	T303M	probably damaging	Het
Vmn2r60	C	T	7: 42,135,861	P166S	probably damaging	Het
Vmn2r83	A	G	10: 79,477,848	I97V	possibly damaging	Het
Vmn2r-ps159	G	C	4: 156,333,438		noncoding transcript	Het
Wbp2nl	A	T	15: 82,314,336	K358M	possibly damaging	Het
Xpo1	T	A	11: 23,278,183	I150N	probably damaging	Het
Zfp113	G	A	5: 138,145,425	L188F	probably damaging	Het
Zfp189	T	G	4: 49,529,984	S362R	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
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'- TGGCAGGAAATACCCAGAGC -3'
(R):5'- TGGCTGCGATTTCCACATTATAG -3'

Sequencing Primer
(F):5'- CTGGTGCTGGACAGAGC -3'
(R):5'- AGTATGGAGTTACCTCAAAGTCC -3'

Posted On

2016-03-01