Mutagenetix > Incidental Mutation

Incidental Mutation 'R7204:Pcdhb4'

560482

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb4

Ensembl Gene

ENSMUSG00000045689

Gene Name

protocadherin beta 4

Synonyms

PcdhbD, Pcdhb5A

MMRRC Submission

045282-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R7204 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37440508-37444225 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37442292 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 534 (D534V)

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: D534V

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

SMART Domains

Protein: ENSMUSP00000059770
Gene: ENSMUSG00000045689
AA Change: D534V

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (75/76)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067K01Rik	T	C	8: 84,730,636 (GRCm39)	S227P	probably damaging	Het
Acot6	A	G	12: 84,153,301 (GRCm39)	H181R	probably benign	Het
Adam15	A	T	3: 89,254,244 (GRCm39)	H184Q	probably benign	Het
Agl	A	G	3: 116,587,469 (GRCm39)	F29L	probably benign	Het
Ak7	A	G	12: 105,708,502 (GRCm39)	Y319C	probably benign	Het
Ano8	C	A	8: 71,931,669 (GRCm39)	V813L	probably benign	Het
Apbb2	T	G	5: 66,608,946 (GRCm39)	K234Q	probably damaging	Het
Arfgef3	A	T	10: 18,522,210 (GRCm39)	D605E	probably damaging	Het
Bfsp2	C	A	9: 103,309,865 (GRCm39)	R340L	probably damaging	Het
Birc6	C	A	17: 74,947,103 (GRCm39)	P2956T	probably damaging	Het
C1rb	T	C	6: 124,554,386 (GRCm39)	I389T	probably benign	Het
Ccdc146	A	G	5: 21,513,624 (GRCm39)	F498S	probably benign	Het
Cdc14b	A	C	13: 64,358,012 (GRCm39)	V361G	possibly damaging	Het
Cdc25b	A	T	2: 131,033,552 (GRCm39)	I164F	probably damaging	Het
Col18a1	A	G	10: 76,921,110 (GRCm39)	S297P	unknown	Het
Col3a1	A	T	1: 45,361,578 (GRCm39)	I117F	unknown	Het
Cox4i2	AG	A	2: 152,602,618 (GRCm39)		probably null	Het
Crybg3	C	A	16: 59,379,253 (GRCm39)	G667V	probably benign	Het
Ctc1	A	G	11: 68,920,567 (GRCm39)	D623G	probably damaging	Het
Dennd1a	A	T	2: 37,929,215 (GRCm39)	H152Q	probably damaging	Het
Dgke	G	A	11: 88,932,306 (GRCm39)	P495S	probably damaging	Het
Dll3	A	T	7: 27,998,330 (GRCm39)	C212S	possibly damaging	Het
Dll4	A	T	2: 119,159,054 (GRCm39)	S235C	probably damaging	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Dnah12	A	T	14: 26,503,442 (GRCm39)	T1599S	probably damaging	Het
Elavl1	G	A	8: 4,361,712 (GRCm39)	T20M	probably damaging	Het
Epha3	T	C	16: 63,472,695 (GRCm39)	T397A	probably benign	Het
Fanca	A	T	8: 124,013,216 (GRCm39)	I859N	probably damaging	Het
Fzd1	A	T	5: 4,805,980 (GRCm39)	V534D	probably damaging	Het
Glmp	A	G	3: 88,233,917 (GRCm39)	Y258C	probably damaging	Het
Gm9195	G	A	14: 72,711,626 (GRCm39)	P329S	probably damaging	Het
Gpt	A	G	15: 76,583,199 (GRCm39)	R379G	probably benign	Het
Gsdmc2	T	C	15: 63,696,903 (GRCm39)	T423A	probably damaging	Het
Hemgn	T	C	4: 46,397,054 (GRCm39)	K61E	possibly damaging	Het
Ikzf4	A	T	10: 128,479,759 (GRCm39)	S56T	possibly damaging	Het
Jak1	T	C	4: 101,032,332 (GRCm39)	T425A	probably benign	Het
Jsrp1	T	C	10: 80,646,319 (GRCm39)	T80A	probably benign	Het
Klra9	T	A	6: 130,165,643 (GRCm39)	D124V	possibly damaging	Het
Lama5	A	T	2: 179,843,970 (GRCm39)	V397D	probably damaging	Het
Lrp2	A	G	2: 69,302,877 (GRCm39)	S2951P	probably benign	Het
Map7d1	A	G	4: 126,149,808 (GRCm39)		probably null	Het
Mcm6	A	T	1: 128,265,864 (GRCm39)	C636S	probably damaging	Het
Mia	T	C	7: 26,880,358 (GRCm39)	E39G	possibly damaging	Het
Mpeg1	T	A	19: 12,440,258 (GRCm39)	I572N	probably damaging	Het
Muc21	AGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCAGTGCTGGATACAGTGGTGGTC	AGCTGGATACAGTGGTGGTC	17: 35,932,105 (GRCm39)		probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Mup5	A	G	4: 61,751,992 (GRCm39)	Y86H	probably damaging	Het
Nckap5	A	T	1: 125,954,104 (GRCm39)	V816D	probably benign	Het
Nfib	T	C	4: 82,215,052 (GRCm39)		probably null	Het
Nlrc5	T	A	8: 95,218,153 (GRCm39)	V1056D	possibly damaging	Het
Nynrin	G	C	14: 56,110,190 (GRCm39)	E1766Q	probably damaging	Het
Or7d9	A	T	9: 20,197,100 (GRCm39)	Y43F	probably benign	Het
Oxct1	T	A	15: 4,123,524 (GRCm39)	L328Q	probably damaging	Het
Pax5	T	A	4: 44,679,485 (GRCm39)	I187F	possibly damaging	Het
Pebp4	C	T	14: 70,085,046 (GRCm39)	P35S	probably benign	Het
Pkhd1l1	T	A	15: 44,386,949 (GRCm39)	V1274E	possibly damaging	Het
Plcz1	A	T	6: 139,956,150 (GRCm39)	V373D	probably benign	Het
Plxnb1	C	T	9: 108,929,243 (GRCm39)	T33I	probably damaging	Het
Prag1	T	C	8: 36,613,915 (GRCm39)	C1156R	probably benign	Het
Ptprc	T	A	1: 138,045,600 (GRCm39)	I87F	probably benign	Het
Rbp4	G	A	19: 38,112,551 (GRCm39)	T138I	possibly damaging	Het
Semp2l2b	A	G	10: 21,943,785 (GRCm39)	L65P	probably damaging	Het
Slc12a1	A	T	2: 125,042,542 (GRCm39)	N733Y	possibly damaging	Het
Slc27a3	A	G	3: 90,297,033 (GRCm39)	V22A	probably benign	Het
Tcaf1	T	C	6: 42,651,973 (GRCm39)		probably null	Het
Tnc	T	C	4: 63,889,392 (GRCm39)		probably null	Het
Tspan31	A	T	10: 126,903,987 (GRCm39)	*211R	probably null	Het
Ttc17	A	T	2: 94,192,773 (GRCm39)	V86D	possibly damaging	Het
Ubr1	T	A	2: 120,734,558 (GRCm39)	N1114I	possibly damaging	Het
Ulk2	C	T	11: 61,674,457 (GRCm39)	G850R	probably benign	Het
Vmn1r13	T	A	6: 57,187,141 (GRCm39)	I100N	probably benign	Het
Zan	T	C	5: 137,426,240 (GRCm39)	D2512G	unknown	Het
Zc3h14	A	T	12: 98,737,615 (GRCm39)	N34I	probably damaging	Het
Zcwpw1	T	G	5: 137,810,346 (GRCm39)	L374R	probably damaging	Het
Zfp747l1	A	T	7: 126,983,518 (GRCm39)	I528K	possibly damaging	Het

Other mutations in Pcdhb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Pcdhb4	APN	18	37,442,969 (GRCm39)	missense	possibly damaging	0.68
IGL01319:Pcdhb4	APN	18	37,441,566 (GRCm39)	missense	probably benign
IGL01325:Pcdhb4	APN	18	37,442,676 (GRCm39)	missense	probably damaging	1.00
IGL01608:Pcdhb4	APN	18	37,441,803 (GRCm39)	missense	probably damaging	1.00
IGL01808:Pcdhb4	APN	18	37,442,067 (GRCm39)	missense	probably damaging	1.00
IGL01962:Pcdhb4	APN	18	37,442,057 (GRCm39)	missense	possibly damaging	0.90
IGL02280:Pcdhb4	APN	18	37,440,735 (GRCm39)	missense	probably benign	0.00
IGL02622:Pcdhb4	APN	18	37,442,721 (GRCm39)	missense	probably benign	0.00
IGL03025:Pcdhb4	APN	18	37,443,030 (GRCm39)	missense	possibly damaging	0.62
IGL03137:Pcdhb4	APN	18	37,441,569 (GRCm39)	missense	probably damaging	0.98
P0031:Pcdhb4	UTSW	18	37,441,938 (GRCm39)	missense	probably damaging	1.00
R0385:Pcdhb4	UTSW	18	37,442,268 (GRCm39)	missense	probably damaging	1.00
R0611:Pcdhb4	UTSW	18	37,441,263 (GRCm39)	missense	probably damaging	1.00
R0671:Pcdhb4	UTSW	18	37,440,795 (GRCm39)	missense	probably benign	0.01
R0738:Pcdhb4	UTSW	18	37,441,764 (GRCm39)	missense	probably damaging	1.00
R0853:Pcdhb4	UTSW	18	37,442,938 (GRCm39)	nonsense	probably null
R0893:Pcdhb4	UTSW	18	37,442,423 (GRCm39)	splice site	probably null
R1932:Pcdhb4	UTSW	18	37,442,594 (GRCm39)	missense	probably benign	0.33
R1945:Pcdhb4	UTSW	18	37,441,921 (GRCm39)	missense	probably damaging	1.00
R2194:Pcdhb4	UTSW	18	37,441,788 (GRCm39)	missense	probably damaging	1.00
R2273:Pcdhb4	UTSW	18	37,441,979 (GRCm39)	missense	probably damaging	1.00
R3807:Pcdhb4	UTSW	18	37,442,367 (GRCm39)	missense	probably damaging	0.98
R3815:Pcdhb4	UTSW	18	37,441,065 (GRCm39)	missense	probably damaging	1.00
R3816:Pcdhb4	UTSW	18	37,441,065 (GRCm39)	missense	probably damaging	1.00
R3974:Pcdhb4	UTSW	18	37,441,901 (GRCm39)	missense	possibly damaging	0.55
R4558:Pcdhb4	UTSW	18	37,443,017 (GRCm39)	missense	probably benign
R4606:Pcdhb4	UTSW	18	37,441,705 (GRCm39)	missense	probably damaging	1.00
R4615:Pcdhb4	UTSW	18	37,441,553 (GRCm39)	missense	probably benign	0.02
R4840:Pcdhb4	UTSW	18	37,441,452 (GRCm39)	missense	possibly damaging	0.60
R5240:Pcdhb4	UTSW	18	37,442,979 (GRCm39)	missense	possibly damaging	0.78
R5272:Pcdhb4	UTSW	18	37,440,819 (GRCm39)	missense	probably benign	0.04
R5586:Pcdhb4	UTSW	18	37,442,034 (GRCm39)	missense	probably damaging	1.00
R5683:Pcdhb4	UTSW	18	37,442,042 (GRCm39)	missense	probably benign	0.45
R5917:Pcdhb4	UTSW	18	37,442,619 (GRCm39)	missense	probably damaging	1.00
R6110:Pcdhb4	UTSW	18	37,441,482 (GRCm39)	missense	possibly damaging	0.80
R6383:Pcdhb4	UTSW	18	37,441,074 (GRCm39)	missense	probably damaging	1.00
R6877:Pcdhb4	UTSW	18	37,442,625 (GRCm39)	missense	probably damaging	1.00
R7036:Pcdhb4	UTSW	18	37,441,835 (GRCm39)	missense	possibly damaging	0.95
R7271:Pcdhb4	UTSW	18	37,441,222 (GRCm39)	missense	possibly damaging	0.89
R7436:Pcdhb4	UTSW	18	37,442,328 (GRCm39)	missense	probably damaging	1.00
R7444:Pcdhb4	UTSW	18	37,442,505 (GRCm39)	missense	probably damaging	1.00
R7614:Pcdhb4	UTSW	18	37,442,602 (GRCm39)	missense	probably benign	0.40
R7650:Pcdhb4	UTSW	18	37,442,667 (GRCm39)	missense	probably damaging	1.00
R7664:Pcdhb4	UTSW	18	37,442,293 (GRCm39)	missense	probably damaging	1.00
R8080:Pcdhb4	UTSW	18	37,442,349 (GRCm39)	missense	probably benign	0.42
R8087:Pcdhb4	UTSW	18	37,441,717 (GRCm39)	missense	probably damaging	1.00
R8115:Pcdhb4	UTSW	18	37,442,453 (GRCm39)	missense	probably damaging	0.99
R8697:Pcdhb4	UTSW	18	37,441,832 (GRCm39)	missense	probably benign	0.15
R8815:Pcdhb4	UTSW	18	37,442,055 (GRCm39)	missense	probably damaging	1.00
R9008:Pcdhb4	UTSW	18	37,440,714 (GRCm39)	missense	probably benign
R9225:Pcdhb4	UTSW	18	37,441,695 (GRCm39)	missense	possibly damaging	0.68
R9278:Pcdhb4	UTSW	18	37,441,925 (GRCm39)	missense	possibly damaging	0.61
R9299:Pcdhb4	UTSW	18	37,442,264 (GRCm39)	missense	probably benign	0.02
R9390:Pcdhb4	UTSW	18	37,442,781 (GRCm39)	missense	possibly damaging	0.80
R9582:Pcdhb4	UTSW	18	37,441,417 (GRCm39)	missense	probably damaging	1.00
R9686:Pcdhb4	UTSW	18	37,442,943 (GRCm39)	missense	probably damaging	0.98
R9721:Pcdhb4	UTSW	18	37,442,905 (GRCm39)	missense	possibly damaging	0.70
Z1177:Pcdhb4	UTSW	18	37,442,966 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGCACATAGGCACCATCAG -3'
(R):5'- ATGACAGCCAGGCATTCTG -3'

Sequencing Primer
(F):5'- GTGCCACAGACTCAGACTCG -3'
(R):5'- AGGCATTCTGACCAGAGTCG -3'

Posted On

2019-06-26