Mutagenetix > Incidental Mutation

Incidental Mutation 'R3077:Pcdhb11'

265268

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb11

Ensembl Gene

ENSMUSG00000051486

Gene Name

protocadherin beta 11

Synonyms

PcdhbK, Pcdhb5E

MMRRC Submission

040567-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R3077 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37554471-37558085 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37555297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 209 (T209I)

Ref Sequence

ENSEMBL: ENSMUSP00000056148 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053073] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

Q91UZ8

Predicted Effect

probably benign
Transcript: ENSMUST00000053073
AA Change: T209I

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000056148
Gene: ENSMUSG00000051486
AA Change: T209I

Domain	Start	End	E-Value	Type
CA	54	131	3.51e-1	SMART
CA	155	240	4.11e-21	SMART
CA	264	344	6.37e-27	SMART
CA	367	448	4.79e-22	SMART
CA	472	558	7.31e-27	SMART
CA	588	669	2.46e-10	SMART
Pfam:Cadherin_C_2	686	769	3.4e-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: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,306,764 (GRCm39)	I1981V	probably benign	Het
Adgrd1	A	T	5: 129,206,169 (GRCm39)	I248F	probably benign	Het
Arfgef3	T	C	10: 18,479,278 (GRCm39)	I1446V	probably damaging	Het
Cabcoco1	T	G	10: 68,361,475 (GRCm39)	Y8S	possibly damaging	Het
Champ1	T	C	8: 13,928,832 (GRCm39)	V330A	probably benign	Het
Dnajc8	A	G	4: 132,271,974 (GRCm39)	D70G	probably damaging	Het
Kif14	T	G	1: 136,447,383 (GRCm39)	I1396S	possibly damaging	Het
Mnt	G	C	11: 74,733,936 (GRCm39)		probably benign	Het
Nhsl2	C	T	X: 101,121,201 (GRCm39)	R62W	probably damaging	Het
Or1e29	G	A	11: 73,667,466 (GRCm39)	P229L	possibly damaging	Het
Or51a7	G	T	7: 102,615,223 (GRCm39)	K305N	probably benign	Het
Pdzd8	A	G	19: 59,293,588 (GRCm39)		probably null	Het
Phactr4	A	G	4: 132,125,307 (GRCm39)	M1T	probably null	Het
Pwwp2a	A	G	11: 43,596,212 (GRCm39)	N184S	probably damaging	Het
Shprh	T	C	10: 11,046,157 (GRCm39)	V958A	probably damaging	Het
Smc3	A	G	19: 53,616,322 (GRCm39)	E449G	probably benign	Het
Snap91	T	A	9: 86,720,907 (GRCm39)	Y96F	possibly damaging	Het
Trim34b	A	G	7: 103,980,508 (GRCm39)	R199G	possibly damaging	Het
Unc45a	A	C	7: 79,988,680 (GRCm39)	V112G	probably damaging	Het
Vwa8	A	T	14: 79,335,782 (GRCm39)	N1413Y	probably benign	Het
Zcchc9	A	T	13: 91,954,101 (GRCm39)	N51K	probably benign	Het
Zfp628	A	G	7: 4,924,199 (GRCm39)	E807G	possibly damaging	Het
Zfp647	A	T	15: 76,802,209 (GRCm39)	M1K	probably null	Het

Other mutations in Pcdhb11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Pcdhb11	APN	18	37,555,026 (GRCm39)	missense	probably benign	0.00
IGL00906:Pcdhb11	APN	18	37,555,174 (GRCm39)	missense	possibly damaging	0.67
IGL01610:Pcdhb11	APN	18	37,556,412 (GRCm39)	missense	probably benign	0.00
IGL01973:Pcdhb11	APN	18	37,556,565 (GRCm39)	missense	probably damaging	1.00
IGL01977:Pcdhb11	APN	18	37,555,344 (GRCm39)	missense	possibly damaging	0.49
IGL02164:Pcdhb11	APN	18	37,556,412 (GRCm39)	missense	probably benign	0.00
IGL02282:Pcdhb11	APN	18	37,556,881 (GRCm39)	missense	probably damaging	1.00
IGL02674:Pcdhb11	APN	18	37,556,667 (GRCm39)	missense	probably damaging	1.00
IGL02965:Pcdhb11	APN	18	37,557,021 (GRCm39)	missense	probably benign
IGL03197:Pcdhb11	APN	18	37,555,477 (GRCm39)	nonsense	probably null
1mM(1):Pcdhb11	UTSW	18	37,557,010 (GRCm39)	missense	probably benign	0.00
R0001:Pcdhb11	UTSW	18	37,557,042 (GRCm39)	missense	probably benign	0.06
R0383:Pcdhb11	UTSW	18	37,556,446 (GRCm39)	missense	probably damaging	1.00
R0421:Pcdhb11	UTSW	18	37,555,533 (GRCm39)	missense	probably benign	0.04
R0422:Pcdhb11	UTSW	18	37,554,923 (GRCm39)	missense	probably damaging	1.00
R0427:Pcdhb11	UTSW	18	37,555,818 (GRCm39)	missense	probably damaging	1.00
R0542:Pcdhb11	UTSW	18	37,556,887 (GRCm39)	missense	probably damaging	1.00
R0620:Pcdhb11	UTSW	18	37,554,864 (GRCm39)	nonsense	probably null
R1014:Pcdhb11	UTSW	18	37,556,422 (GRCm39)	missense	probably damaging	1.00
R1277:Pcdhb11	UTSW	18	37,554,769 (GRCm39)	missense	possibly damaging	0.79
R2034:Pcdhb11	UTSW	18	37,555,546 (GRCm39)	missense	probably benign	0.00
R2142:Pcdhb11	UTSW	18	37,555,176 (GRCm39)	missense	probably benign	0.28
R2496:Pcdhb11	UTSW	18	37,555,375 (GRCm39)	missense	probably benign	0.30
R4560:Pcdhb11	UTSW	18	37,556,787 (GRCm39)	missense	possibly damaging	0.61
R4590:Pcdhb11	UTSW	18	37,555,549 (GRCm39)	missense	probably damaging	0.98
R4642:Pcdhb11	UTSW	18	37,555,021 (GRCm39)	missense	probably benign	0.01
R4729:Pcdhb11	UTSW	18	37,555,419 (GRCm39)	nonsense	probably null
R5012:Pcdhb11	UTSW	18	37,556,029 (GRCm39)	missense	possibly damaging	0.48
R5364:Pcdhb11	UTSW	18	37,555,232 (GRCm39)	missense	probably benign	0.06
R5910:Pcdhb11	UTSW	18	37,556,796 (GRCm39)	missense	probably benign	0.43
R6023:Pcdhb11	UTSW	18	37,555,978 (GRCm39)	missense	possibly damaging	0.94
R6106:Pcdhb11	UTSW	18	37,556,056 (GRCm39)	missense	probably damaging	1.00
R6254:Pcdhb11	UTSW	18	37,554,771 (GRCm39)	missense	probably damaging	0.99
R6276:Pcdhb11	UTSW	18	37,554,813 (GRCm39)	missense	probably benign	0.36
R6360:Pcdhb11	UTSW	18	37,555,212 (GRCm39)	missense	probably benign
R6699:Pcdhb11	UTSW	18	37,555,990 (GRCm39)	missense	probably damaging	1.00
R6732:Pcdhb11	UTSW	18	37,555,197 (GRCm39)	missense	probably benign
R6760:Pcdhb11	UTSW	18	37,554,637 (GRCm39)	intron	probably benign
R6916:Pcdhb11	UTSW	18	37,555,434 (GRCm39)	missense	possibly damaging	0.52
R7130:Pcdhb11	UTSW	18	37,556,559 (GRCm39)	missense	probably benign	0.04
R7267:Pcdhb11	UTSW	18	37,555,006 (GRCm39)	missense	possibly damaging	0.61
R7426:Pcdhb11	UTSW	18	37,556,313 (GRCm39)	missense	probably damaging	0.99
R7444:Pcdhb11	UTSW	18	37,555,672 (GRCm39)	missense	probably damaging	0.98
R7492:Pcdhb11	UTSW	18	37,556,497 (GRCm39)	missense	probably damaging	1.00
R7504:Pcdhb11	UTSW	18	37,554,852 (GRCm39)	missense	probably benign
R7537:Pcdhb11	UTSW	18	37,554,672 (GRCm39)	start codon destroyed	possibly damaging	0.88
R7728:Pcdhb11	UTSW	18	37,556,530 (GRCm39)	missense	probably damaging	1.00
R7817:Pcdhb11	UTSW	18	37,556,962 (GRCm39)	missense	probably damaging	1.00
R8071:Pcdhb11	UTSW	18	37,555,422 (GRCm39)	missense	probably benign	0.02
R8229:Pcdhb11	UTSW	18	37,555,671 (GRCm39)	missense	probably benign	0.00
R8254:Pcdhb11	UTSW	18	37,555,242 (GRCm39)	missense	probably benign	0.45
R8356:Pcdhb11	UTSW	18	37,555,252 (GRCm39)	missense	probably damaging	1.00
R8739:Pcdhb11	UTSW	18	37,555,549 (GRCm39)	missense	probably damaging	1.00
R8957:Pcdhb11	UTSW	18	37,555,872 (GRCm39)	missense	probably benign	0.09
R8957:Pcdhb11	UTSW	18	37,554,692 (GRCm39)	missense	probably benign	0.43
R8964:Pcdhb11	UTSW	18	37,556,660 (GRCm39)	missense	probably benign	0.00
R8966:Pcdhb11	UTSW	18	37,556,037 (GRCm39)	missense	possibly damaging	0.67
R9188:Pcdhb11	UTSW	18	37,556,188 (GRCm39)	missense	probably damaging	1.00
R9253:Pcdhb11	UTSW	18	37,554,529 (GRCm39)	intron	probably benign
R9632:Pcdhb11	UTSW	18	37,556,019 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGTGTTTCCTCTGAAGGCAG -3'
(R):5'- TGAAACAGAGAATAGGCTACATTGC -3'

Sequencing Primer
(F):5'- AGCCCAGGACTCTGACATAGG -3'
(R):5'- TCTAAATCCCTGGCAGAGACTG -3'

Posted On

2015-02-05