Mutagenetix > Incidental Mutation

Incidental Mutation 'R4880:Pcdhb7'

375257

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb7

Ensembl Gene

ENSMUSG00000045062

Gene Name

protocadherin beta 7

Synonyms

PcdhbG, Pcdhb4B

MMRRC Submission

042489-MU

Accession Numbers

Essential gene?

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

Stock #

R4880 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37474755-37478255 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37475284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 140 (T140I)

Ref Sequence

ENSEMBL: ENSMUSP00000051041 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053037] [ENSMUST00000061717] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

Q8CDY9

Predicted Effect

probably benign
Transcript: ENSMUST00000053037
AA Change: T140I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000051041
Gene: ENSMUSG00000045062
AA Change: T140I

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: ENSMUST00000061717

SMART Domains

Protein: ENSMUSP00000058592
Gene: ENSMUSG00000051678

Domain	Start	End	E-Value	Type
Pfam:Cadherin_2	30	112	2.7e-33	PFAM
CA	155	240	1.48e-22	SMART
CA	264	344	3.02e-28	SMART
CA	367	448	1.69e-22	SMART
CA	472	558	1.65e-25	SMART
CA	588	669	6.24e-12	SMART
Pfam:Cadherin_C_2	685	768	4.7e-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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

98% (89/91)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	C	7: 41,276,529 (GRCm39)	I744T	possibly damaging	Het
Adgrb1	T	A	15: 74,458,871 (GRCm39)	F1324L	possibly damaging	Het
Adm	A	G	7: 110,228,326 (GRCm39)	H230R	probably benign	Het
Ank2	A	T	3: 126,840,475 (GRCm39)		probably null	Het
Arih1	A	T	9: 59,344,168 (GRCm39)	F156L	possibly damaging	Het
Atf6b	A	G	17: 34,873,529 (GRCm39)	H660R	probably damaging	Het
Bcl9l	C	A	9: 44,420,007 (GRCm39)	Q1101K	probably benign	Het
Ccdc174	G	A	6: 91,876,572 (GRCm39)		probably benign	Het
Ccdc65	A	C	15: 98,620,538 (GRCm39)		probably null	Het
Cela2a	T	C	4: 141,549,598 (GRCm39)	N59S	probably benign	Het
Cfap157	A	T	2: 32,668,261 (GRCm39)	V393E	probably damaging	Het
Chd1	T	C	17: 17,594,916 (GRCm39)	F17S	probably damaging	Het
Cpne3	T	C	4: 19,540,827 (GRCm39)	I183V	probably benign	Het
Cyp2d11	C	A	15: 82,276,306 (GRCm39)	V122L	probably benign	Het
Dcaf8	C	A	1: 172,015,056 (GRCm39)		probably benign	Het
Dchs1	T	A	7: 105,404,937 (GRCm39)	D2535V	probably benign	Het
Eif4a2	G	T	16: 22,927,650 (GRCm39)		probably benign	Het
Fzd4	T	A	7: 89,057,109 (GRCm39)	D385E	probably benign	Het
Galnt13	C	A	2: 54,950,584 (GRCm39)	Q422K	probably damaging	Het
Gnptab	C	T	10: 88,268,413 (GRCm39)	Q507*	probably null	Het
Hoxa7	A	G	6: 52,194,014 (GRCm39)		probably benign	Het
Htra1	T	A	7: 130,563,813 (GRCm39)	V228D	probably damaging	Het
Idi2l	A	T	13: 8,990,702 (GRCm39)		probably null	Het
Ifi203	T	A	1: 173,756,716 (GRCm39)		probably benign	Het
Iqca1l	T	C	5: 24,754,750 (GRCm39)	D340G	probably benign	Het
Irs1	TGGGGTGGACATCGAACTGAAGGAG	TG	1: 82,265,453 (GRCm39)	913	probably null	Het
Itga2b	G	T	11: 102,348,548 (GRCm39)		probably benign	Het
Itgb1	G	T	8: 129,442,631 (GRCm39)	R272L	probably damaging	Het
Kif9	A	G	9: 110,330,703 (GRCm39)	E343G	probably damaging	Het
Klhl5	T	C	5: 65,316,244 (GRCm39)	V97A	probably damaging	Het
Lama5	C	A	2: 179,818,861 (GRCm39)		probably benign	Het
Lamb2	A	G	9: 108,361,226 (GRCm39)		probably null	Het
Lrp1b	T	A	2: 41,660,931 (GRCm39)	Y59F	probably benign	Het
Mmrn1	A	G	6: 60,953,423 (GRCm39)	E568G	probably benign	Het
Mreg	A	G	1: 72,201,495 (GRCm39)	Y166H	probably damaging	Het
Myh7	C	A	14: 55,216,045 (GRCm39)	V1323F	probably benign	Het
Nr1i3	T	A	1: 171,043,951 (GRCm39)	I91K	probably damaging	Het
Nsfl1c	T	A	2: 151,348,230 (GRCm39)	D206E	probably damaging	Het
Or11g24	T	C	14: 50,662,758 (GRCm39)	Y261H	possibly damaging	Het
Or13c3	A	T	4: 52,856,411 (GRCm39)	M34K	probably damaging	Het
Or2ak5	G	A	11: 58,611,107 (GRCm39)	L256F	probably benign	Het
Or4k44	A	T	2: 111,367,698 (GRCm39)	L312*	probably null	Het
Or5k17	A	C	16: 58,746,463 (GRCm39)	L157W	probably damaging	Het
Or8b54	T	A	9: 38,686,843 (GRCm39)	C97*	probably null	Het
Pcdhgb5	T	G	18: 37,865,641 (GRCm39)	S479A	probably benign	Het
Pcsk5	T	A	19: 17,425,054 (GRCm39)	Y1583F	probably damaging	Het
Pias1	T	C	9: 62,820,080 (GRCm39)	R296G	probably benign	Het
Plscr1l1	A	G	9: 92,236,665 (GRCm39)	E108G	probably damaging	Het
Polr1e	T	A	4: 45,022,280 (GRCm39)	C100S	probably damaging	Het
Rpap1	C	A	2: 119,614,346 (GRCm39)	R17L	probably damaging	Het
Rtn1	C	T	12: 72,264,232 (GRCm39)	V192I	possibly damaging	Het
Ryr2	G	A	13: 11,767,104 (GRCm39)	P1262L	probably damaging	Het
Slc4a7	G	T	14: 14,757,342 (GRCm38)	D396Y	probably damaging	Het
Slc5a8	T	C	10: 88,727,886 (GRCm39)	Y118H	probably damaging	Het
Slc7a6os	T	A	8: 106,937,247 (GRCm39)	Q71L	probably benign	Het
Sphkap	A	G	1: 83,266,538 (GRCm39)	V127A	probably damaging	Het
Srpk1	A	G	17: 28,810,199 (GRCm39)	S580P	probably damaging	Het
Syne2	A	G	12: 76,026,593 (GRCm39)	I3474V	probably damaging	Het
Tchh	A	G	3: 93,351,130 (GRCm39)	D190G	possibly damaging	Het
Tenm4	T	A	7: 96,555,025 (GRCm39)		probably null	Het
Tex14	T	A	11: 87,377,121 (GRCm39)	I155N	possibly damaging	Het
Tm7sf3	A	T	6: 146,511,358 (GRCm39)	V377E	possibly damaging	Het
Tnfsf9	T	A	17: 57,412,433 (GRCm39)	M1K	probably null	Het
Tns2	C	T	15: 102,020,474 (GRCm39)	T780I	probably damaging	Het
Trdn	T	A	10: 33,347,575 (GRCm39)	D639E	probably benign	Het
Trmt10a	A	G	3: 137,857,972 (GRCm39)	E173G	possibly damaging	Het
Ttn	G	A	2: 76,649,119 (GRCm39)	P10984S	possibly damaging	Het
Tubb6	C	T	18: 67,534,386 (GRCm39)	T95M	possibly damaging	Het
Uroc1	G	T	6: 90,334,519 (GRCm39)	R577L	probably damaging	Het
Vmn2r86	T	A	10: 130,289,484 (GRCm39)	D137V	probably benign	Het
Xkr7	T	C	2: 152,896,873 (GRCm39)	Y576H	probably damaging	Het
Zfp410	A	G	12: 84,384,449 (GRCm39)	N355D	probably damaging	Het
Zfp59	C	A	7: 27,543,742 (GRCm39)	D22E	probably damaging	Het
Zfp64	C	T	2: 168,736,297 (GRCm39)	R460H	probably damaging	Het
Zfp655	T	C	5: 145,181,168 (GRCm39)	V342A	probably damaging	Het
Zfp990	G	A	4: 145,264,490 (GRCm39)	G496E	probably benign	Het

Other mutations in Pcdhb7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01668:Pcdhb7	APN	18	37,476,205 (GRCm39)	missense	probably benign	0.35
IGL01806:Pcdhb7	APN	18	37,475,548 (GRCm39)	missense	possibly damaging	0.60
IGL01862:Pcdhb7	APN	18	37,476,915 (GRCm39)	missense	possibly damaging	0.81
IGL01961:Pcdhb7	APN	18	37,475,526 (GRCm39)	missense	probably damaging	1.00
R0184:Pcdhb7	UTSW	18	37,476,443 (GRCm39)	missense	probably benign	0.44
R0426:Pcdhb7	UTSW	18	37,475,857 (GRCm39)	missense	probably damaging	0.99
R0576:Pcdhb7	UTSW	18	37,475,410 (GRCm39)	missense	probably benign	0.01
R0646:Pcdhb7	UTSW	18	37,476,442 (GRCm39)	missense	probably damaging	1.00
R0656:Pcdhb7	UTSW	18	37,474,954 (GRCm39)	missense	probably benign	0.01
R1216:Pcdhb7	UTSW	18	37,476,927 (GRCm39)	missense	probably damaging	0.99
R1851:Pcdhb7	UTSW	18	37,475,631 (GRCm39)	missense	possibly damaging	0.69
R2168:Pcdhb7	UTSW	18	37,476,335 (GRCm39)	missense	probably benign	0.05
R2312:Pcdhb7	UTSW	18	37,475,250 (GRCm39)	missense	probably benign
R3153:Pcdhb7	UTSW	18	37,476,126 (GRCm39)	missense	probably damaging	1.00
R3758:Pcdhb7	UTSW	18	37,476,079 (GRCm39)	missense	possibly damaging	0.84
R3763:Pcdhb7	UTSW	18	37,474,936 (GRCm39)	missense	probably benign
R3940:Pcdhb7	UTSW	18	37,477,021 (GRCm39)	missense	probably damaging	1.00
R3949:Pcdhb7	UTSW	18	37,476,141 (GRCm39)	missense	probably benign	0.00
R4418:Pcdhb7	UTSW	18	37,476,535 (GRCm39)	missense	probably benign	0.08
R4580:Pcdhb7	UTSW	18	37,475,188 (GRCm39)	missense	probably damaging	1.00
R4936:Pcdhb7	UTSW	18	37,475,203 (GRCm39)	missense	probably damaging	1.00
R4936:Pcdhb7	UTSW	18	37,475,202 (GRCm39)	nonsense	probably null
R5086:Pcdhb7	UTSW	18	37,476,162 (GRCm39)	missense	possibly damaging	0.56
R5517:Pcdhb7	UTSW	18	37,474,846 (GRCm39)	intron	probably benign
R5570:Pcdhb7	UTSW	18	37,477,224 (GRCm39)	missense	probably benign	0.35
R5827:Pcdhb7	UTSW	18	37,475,077 (GRCm39)	missense	probably benign	0.14
R6187:Pcdhb7	UTSW	18	37,475,622 (GRCm39)	missense	probably benign	0.23
R6194:Pcdhb7	UTSW	18	37,475,199 (GRCm39)	missense	probably damaging	0.98
R6195:Pcdhb7	UTSW	18	37,475,709 (GRCm39)	missense	probably benign	0.33
R6373:Pcdhb7	UTSW	18	37,475,264 (GRCm39)	nonsense	probably null
R6398:Pcdhb7	UTSW	18	37,476,487 (GRCm39)	missense	possibly damaging	0.86
R6437:Pcdhb7	UTSW	18	37,475,743 (GRCm39)	missense	probably damaging	0.96
R6587:Pcdhb7	UTSW	18	37,477,156 (GRCm39)	missense	probably benign
R6596:Pcdhb7	UTSW	18	37,476,414 (GRCm39)	missense	probably damaging	0.97
R6646:Pcdhb7	UTSW	18	37,477,027 (GRCm39)	missense	possibly damaging	0.90
R6702:Pcdhb7	UTSW	18	37,474,959 (GRCm39)	missense	probably benign	0.03
R6923:Pcdhb7	UTSW	18	37,475,522 (GRCm39)	splice site	probably null
R6976:Pcdhb7	UTSW	18	37,476,631 (GRCm39)	missense	probably benign	0.12
R7038:Pcdhb7	UTSW	18	37,475,257 (GRCm39)	missense	possibly damaging	0.90
R7325:Pcdhb7	UTSW	18	37,476,440 (GRCm39)	missense	probably benign	0.00
R7509:Pcdhb7	UTSW	18	37,475,074 (GRCm39)	missense	possibly damaging	0.68
R7598:Pcdhb7	UTSW	18	37,475,833 (GRCm39)	missense	probably damaging	1.00
R7622:Pcdhb7	UTSW	18	37,475,514 (GRCm39)	missense	probably benign	0.06
R7828:Pcdhb7	UTSW	18	37,476,915 (GRCm39)	missense	probably damaging	1.00
R9598:Pcdhb7	UTSW	18	37,475,434 (GRCm39)	missense	probably damaging	1.00
Z1177:Pcdhb7	UTSW	18	37,476,261 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- AAAGTGGCTCCTTTGTAGCC -3'
(R):5'- CTGACTGTGTATTGTTGAAGCC -3'

Sequencing Primer
(F):5'- TGGCCAAGGATCTGGGTC -3'
(R):5'- ACTGTGTATTGTTGAAGCCCATTGC -3'

Posted On

2016-03-17