Mutagenetix > Incidental Mutations

Incidental Mutation 'R0184:Pcdhb7'

24005

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb7

Ensembl Gene

ENSMUSG00000045062

Gene Name

protocadherin beta 7

Synonyms

Pcdhb4B, PcdhbG

MMRRC Submission

038449-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R0184 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37341702-37345202 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37343390 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 526 (D526E)

Ref Sequence

ENSEMBL: ENSMUSP00000051041 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053037] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

Q8CDY9

Predicted Effect

probably benign
Transcript: ENSMUST00000053037
AA Change: D526E

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000051041
Gene: ENSMUSG00000045062
AA Change: D526E

Domain	Start	End	E-Value	Type
Pfam:Cadherin_2	61	143	1.4e-32	PFAM
CA	186	271	5.47e-17	SMART
CA	295	376	4.43e-26	SMART
CA	399	480	1.04e-22	SMART
CA	504	590	2.12e-23	SMART
CA	620	701	5.73e-11	SMART
Pfam:Cadherin_C_2	718	801	5.5e-26	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: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.9%

Validation Efficiency

66% (50/76)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	A	3: 124,419,250	V131F	probably damaging	Het
Adam28	T	C	14: 68,637,373	D285G	probably benign	Het
Akr1c13	A	G	13: 4,194,056	E36G	probably damaging	Het
Antxr2	A	G	5: 97,980,030	L214S	probably damaging	Het
Arhgap26	T	A	18: 38,617,673	D46E	unknown	Het
Armc9	T	C	1: 86,198,370	L61P	probably damaging	Het
Bicc1	C	A	10: 71,079,215	R73L	probably benign	Het
Calm2	T	C	17: 87,435,841	N43S	probably benign	Het
Cct7	A	G	6: 85,461,554	D105G	probably null	Het
Cdk18	T	C	1: 132,118,538	N215D	probably benign	Het
Cep126	T	C	9: 8,103,395	T205A	probably benign	Het
Cfap57	A	T	4: 118,599,012	I495N	probably damaging	Het
Cyp2b9	T	A	7: 26,187,007	C152*	probably null	Het
Dab2ip	G	A	2: 35,718,791	R579H	probably damaging	Het
Dnah8	T	C	17: 30,683,683	V905A	probably benign	Het
Eif4h	C	A	5: 134,625,375	D134Y	possibly damaging	Het
Espl1	T	A	15: 102,299,216	S372T	probably benign	Het
Fat2	T	A	11: 55,296,288	H1244L	probably damaging	Het
Fbxo11	T	A	17: 88,008,673	N443I	probably benign	Het
Git2	G	A	5: 114,739,037	T128M	possibly damaging	Het
Gm10985	T	A	3: 53,845,258	Y21N	probably damaging	Het
Gm12790	A	T	4: 101,967,614	Y152*	probably null	Het
Heatr5a	T	C	12: 51,909,969	D1115G	probably benign	Het
Hipk2	T	C	6: 38,718,931	N726S	possibly damaging	Het
Hrg	T	C	16: 22,953,771		probably null	Het
Iars	T	G	13: 49,722,212	S792A	probably benign	Het
Igf1r	A	G	7: 68,226,193	N1301S	possibly damaging	Het
Il22	A	T	10: 118,205,606	I75F	probably damaging	Het
Ilkap	T	C	1: 91,376,305		probably benign	Het
Ints13	A	T	6: 146,555,044	Y435N	probably benign	Het
Ints8	A	C	4: 11,218,637	S797A	probably benign	Het
Itgad	T	A	7: 128,189,231	D405E	probably benign	Het
Itgam	A	T	7: 128,086,058	I448F	probably damaging	Het
Klk1	C	T	7: 44,228,749	T41I	possibly damaging	Het
Mcrip1	T	C	11: 120,544,884	M1V	probably null	Het
Mdga1	A	G	17: 29,852,442	Y128H	probably damaging	Het
Mtor	G	T	4: 148,464,971	R604L	probably benign	Het
Olfr1170	A	T	2: 88,224,780	L84*	probably null	Het
Olfr656	T	C	7: 104,618,240	V187A	probably damaging	Het
Pip4k2a	T	C	2: 18,889,128	D139G	probably damaging	Het
Pkp3	A	C	7: 141,088,367	N536T	probably benign	Het
Pla2g4c	T	A	7: 13,356,220	S524T	probably benign	Het
Pno1	T	C	11: 17,211,127	E69G	probably benign	Het
Pold1	C	T	7: 44,541,715	V231M	probably benign	Het
Poli	A	G	18: 70,522,731	S248P	probably damaging	Het
Ppox	C	T	1: 171,279,552	S138N	probably damaging	Het
Psg20	T	C	7: 18,685,976	E6G	probably null	Het
Rbmx	C	T	X: 57,391,566		probably null	Het
Rln1	T	A	19: 29,331,936	K148*	probably null	Het
Rnf213	C	T	11: 119,414,521	T526I	probably damaging	Het
Rps6kc1	A	T	1: 190,799,093	V904E	probably null	Het
Sf3b2	T	A	19: 5,283,672	I633F	probably damaging	Het
Sfswap	T	A	5: 129,507,189	I189N	probably damaging	Het
Smarca2	T	A	19: 26,692,249	Y973*	probably null	Het
Spink5	G	A	18: 44,003,198	D559N	probably benign	Het
Spty2d1	C	T	7: 46,997,574	V536I	possibly damaging	Het
Tbx3	T	C	5: 119,675,562	I221T	probably damaging	Het
Tcf20	T	A	15: 82,852,300	D1650V	probably damaging	Het
Thsd7b	A	G	1: 129,430,964	K45R	probably benign	Het
Tirap	A	G	9: 35,189,194	S65P	probably benign	Het
Trim25	C	T	11: 88,999,640	P51L	probably damaging	Het
Trim61	T	C	8: 65,014,417	N64S	probably benign	Het
Twf1	T	A	15: 94,581,067		probably null	Het
Ubr4	A	C	4: 139,445,262	T1692P	probably damaging	Het
Usp3	A	G	9: 66,562,581	M86T	probably damaging	Het
Utrn	T	C	10: 12,667,618	D1762G	probably benign	Het
V1rd19	T	A	7: 24,003,207	F33I	probably benign	Het
Vmn2r52	T	C	7: 10,159,338	S625G	probably damaging	Het
Vmn2r90	G	A	17: 17,726,877	W472*	probably null	Het
Vrk2	C	A	11: 26,550,046	A56S	probably damaging	Het
Yeats2	C	T	16: 20,203,685	P620S	possibly damaging	Het
Zbtb21	C	T	16: 97,950,513	D171N	probably damaging	Het
Zeb1	A	T	18: 5,766,808	I440F	probably damaging	Het
Zfp292	A	G	4: 34,819,563	I253T	probably damaging	Het

Other mutations in Pcdhb7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01668:Pcdhb7	APN	18	37343152	missense	probably benign	0.35
IGL01806:Pcdhb7	APN	18	37342495	missense	possibly damaging	0.60
IGL01862:Pcdhb7	APN	18	37343862	missense	possibly damaging	0.81
IGL01961:Pcdhb7	APN	18	37342473	missense	probably damaging	1.00
R0426:Pcdhb7	UTSW	18	37342804	missense	probably damaging	0.99
R0576:Pcdhb7	UTSW	18	37342357	missense	probably benign	0.01
R0646:Pcdhb7	UTSW	18	37343389	missense	probably damaging	1.00
R0656:Pcdhb7	UTSW	18	37341901	missense	probably benign	0.01
R1216:Pcdhb7	UTSW	18	37343874	missense	probably damaging	0.99
R1851:Pcdhb7	UTSW	18	37342578	missense	possibly damaging	0.69
R2168:Pcdhb7	UTSW	18	37343282	missense	probably benign	0.05
R2312:Pcdhb7	UTSW	18	37342197	missense	probably benign
R3153:Pcdhb7	UTSW	18	37343073	missense	probably damaging	1.00
R3758:Pcdhb7	UTSW	18	37343026	missense	possibly damaging	0.84
R3763:Pcdhb7	UTSW	18	37341883	missense	probably benign
R3940:Pcdhb7	UTSW	18	37343968	missense	probably damaging	1.00
R3949:Pcdhb7	UTSW	18	37343088	missense	probably benign	0.00
R4418:Pcdhb7	UTSW	18	37343482	missense	probably benign	0.08
R4580:Pcdhb7	UTSW	18	37342135	missense	probably damaging	1.00
R4880:Pcdhb7	UTSW	18	37342231	missense	probably benign	0.00
R4936:Pcdhb7	UTSW	18	37342149	nonsense	probably null
R4936:Pcdhb7	UTSW	18	37342150	missense	probably damaging	1.00
R5086:Pcdhb7	UTSW	18	37343109	missense	possibly damaging	0.56
R5517:Pcdhb7	UTSW	18	37341793	intron	probably benign
R5570:Pcdhb7	UTSW	18	37344171	missense	probably benign	0.35
R5827:Pcdhb7	UTSW	18	37342024	missense	probably benign	0.14
R6187:Pcdhb7	UTSW	18	37342569	missense	probably benign	0.23
R6194:Pcdhb7	UTSW	18	37342146	missense	probably damaging	0.98
R6195:Pcdhb7	UTSW	18	37342656	missense	probably benign	0.33
R6373:Pcdhb7	UTSW	18	37342211	nonsense	probably null
R6398:Pcdhb7	UTSW	18	37343434	missense	possibly damaging	0.86
R6437:Pcdhb7	UTSW	18	37342690	missense	probably damaging	0.96
R6587:Pcdhb7	UTSW	18	37344103	missense	probably benign
R6596:Pcdhb7	UTSW	18	37343361	missense	probably damaging	0.97
R6646:Pcdhb7	UTSW	18	37343974	missense	possibly damaging	0.90
R6702:Pcdhb7	UTSW	18	37341906	missense	probably benign	0.03
R6923:Pcdhb7	UTSW	18	37342469	splice site	probably null
R6976:Pcdhb7	UTSW	18	37343578	missense	probably benign	0.12
R7038:Pcdhb7	UTSW	18	37342204	missense	possibly damaging	0.90
R7325:Pcdhb7	UTSW	18	37343387	missense	probably benign	0.00
R7509:Pcdhb7	UTSW	18	37342021	missense	possibly damaging	0.68
R7598:Pcdhb7	UTSW	18	37342780	missense	probably damaging	1.00
R7622:Pcdhb7	UTSW	18	37342461	missense	probably benign	0.06
R7828:Pcdhb7	UTSW	18	37343862	missense	probably damaging	1.00
Z1177:Pcdhb7	UTSW	18	37343208	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- AGTGCAGGTGTCCGATGTCAAC -3'
(R):5'- TGACAGCCAGGCATTTTGACCAG -3'

Sequencing Primer
(F):5'- TGTCCGATGTCAACGACAATG -3'
(R):5'- GCATTTTGACCAGAGTCGC -3'

Posted On

2013-04-16