Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01610:Pcdhb11'

91958

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcdhb11

Ensembl Gene

ENSMUSG00000051486

Gene Name

protocadherin beta 11

Synonyms

Pcdhb5E, PcdhbK

Accession Numbers

Genbank: NM_053136.3; Ensembl: ENSMUST00000053073

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

IGL01610

Quality Score

Status

Chromosome

Chromosomal Location

37421418-37425836 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 37423359 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 581 (S581A)

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: S581A

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

SMART Domains

Protein: ENSMUSP00000056148
Gene: ENSMUSG00000051486
AA Change: S581A

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018A14Rik	T	C	18: 46,199,566		probably benign	Het
2810474O19Rik	C	T	6: 149,328,951	T1165M	probably benign	Het
4921524J17Rik	T	C	8: 85,412,242	I73V	probably benign	Het
4930562C15Rik	T	A	16: 4,851,565		probably benign	Het
Abca15	T	A	7: 120,340,644	V323D	probably damaging	Het
Acot10	T	C	15: 20,665,695	Y320C	probably damaging	Het
Acp6	T	A	3: 97,175,720	V349D	possibly damaging	Het
Adcy9	G	T	16: 4,418,114	Q478K	probably damaging	Het
Akap13	A	G	7: 75,720,180	I1843V	possibly damaging	Het
Akap13	A	T	7: 75,747,605	I2528F	probably damaging	Het
Akap9	G	A	5: 4,032,839	A1988T	possibly damaging	Het
Alox5	C	T	6: 116,413,547	V490M	probably damaging	Het
Aspm	C	T	1: 139,489,670	R1537*	probably null	Het
Bmf	G	A	2: 118,549,158	P46S	probably benign	Het
Brf1	T	A	12: 112,988,083	H92L	probably benign	Het
Chchd1	A	G	14: 20,703,177	N35S	probably benign	Het
Cntnap3	C	T	13: 64,757,301	G889S	probably damaging	Het
Col6a4	T	C	9: 106,047,707		probably benign	Het
Crispld1	A	G	1: 17,746,725		probably null	Het
Ddx27	T	C	2: 167,022,044		probably benign	Het
Dennd1b	A	G	1: 139,169,766		probably benign	Het
Dennd4a	T	C	9: 64,906,884	V1461A	probably damaging	Het
Drc7	C	T	8: 95,077,802	R843W	probably damaging	Het
Dync2li1	A	G	17: 84,628,314	E13G	probably damaging	Het
Egf	A	G	3: 129,706,260		probably benign	Het
Hpse2	T	C	19: 43,384,789	S134G	probably benign	Het
Hydin	A	G	8: 110,557,713	T3206A	probably benign	Het
Ier5l	T	A	2: 30,473,954	S20C	probably damaging	Het
Il1r1	A	G	1: 40,302,400	E324G	probably benign	Het
Kdm4b	C	T	17: 56,353,522		probably benign	Het
Lztfl1	T	A	9: 123,700,091	E298D	probably benign	Het
Myo1b	A	T	1: 51,776,246	M647K	probably damaging	Het
Olfr1106	G	T	2: 87,048,288		probably benign	Het
Olfr539	C	T	7: 140,667,671	A128V	probably damaging	Het
Olfr619	A	T	7: 103,604,067	T138S	probably benign	Het
Parvb	A	T	15: 84,303,465	K258M	probably damaging	Het
Pcnx2	C	A	8: 125,839,633	A1024S	possibly damaging	Het
Pde4a	T	C	9: 21,211,350		probably benign	Het
Pgr	A	T	9: 8,903,691	H571L	possibly damaging	Het
Phf20	G	T	2: 156,302,889	E806*	probably null	Het
Pilra	T	A	5: 137,835,541	I85F	probably damaging	Het
Pla2g2f	C	T	4: 138,753,311	V125M	probably damaging	Het
Rb1cc1	A	G	1: 6,248,481	N708S	probably benign	Het
Rnase4	A	T	14: 51,104,921	Y34F	probably damaging	Het
Ropn1	A	T	16: 34,666,771	I26F	probably damaging	Het
Rpl9-ps6	T	A	19: 32,466,299	T85S	probably benign	Het
Scaf8	C	T	17: 3,195,849	P738S	probably damaging	Het
Sec31a	A	T	5: 100,402,358		probably benign	Het
Sel1l	C	T	12: 91,817,290	V459I	probably damaging	Het
Senp7	A	T	16: 56,175,823	D755V	possibly damaging	Het
Serpinb9d	A	T	13: 33,198,002	K151N	probably benign	Het
Slc8a3	A	G	12: 81,315,802	F81S	probably damaging	Het
Spire2	T	A	8: 123,356,763	L162Q	probably damaging	Het
Syt17	A	G	7: 118,433,993	I264T	possibly damaging	Het
Tbl3	A	T	17: 24,704,044	V379D	probably damaging	Het
Tenm3	A	T	8: 48,254,477	L1762Q	probably damaging	Het
Trerf1	A	T	17: 47,319,575		noncoding transcript	Het
Ttc13	T	C	8: 124,676,344	D552G	probably damaging	Het
Tuba3a	G	T	6: 125,278,566	T382K	possibly damaging	Het
Vmn1r210	A	T	13: 22,827,807	V103E	probably damaging	Het
Vmn1r80	A	G	7: 12,193,380	H139R	possibly damaging	Het
Xpo7	A	T	14: 70,703,230	F141Y	probably damaging	Het
Zfp143	T	A	7: 110,074,126	Y143*	probably null	Het
Zfp207	T	A	11: 80,385,970	C26S	probably damaging	Het

Other mutations in Pcdhb11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Pcdhb11	APN	18	37421973	missense	probably benign	0.00
IGL00906:Pcdhb11	APN	18	37422121	missense	possibly damaging	0.67
IGL01973:Pcdhb11	APN	18	37423512	missense	probably damaging	1.00
IGL01977:Pcdhb11	APN	18	37422291	missense	possibly damaging	0.49
IGL02164:Pcdhb11	APN	18	37423359	missense	probably benign	0.00
IGL02282:Pcdhb11	APN	18	37423828	missense	probably damaging	1.00
IGL02674:Pcdhb11	APN	18	37423614	missense	probably damaging	1.00
IGL02965:Pcdhb11	APN	18	37423968	missense	probably benign
IGL03197:Pcdhb11	APN	18	37422424	nonsense	probably null
1mM(1):Pcdhb11	UTSW	18	37423957	missense	probably benign	0.00
R0001:Pcdhb11	UTSW	18	37423989	missense	probably benign	0.06
R0383:Pcdhb11	UTSW	18	37423393	missense	probably damaging	1.00
R0421:Pcdhb11	UTSW	18	37422480	missense	probably benign	0.04
R0422:Pcdhb11	UTSW	18	37421870	missense	probably damaging	1.00
R0427:Pcdhb11	UTSW	18	37422765	missense	probably damaging	1.00
R0542:Pcdhb11	UTSW	18	37423834	missense	probably damaging	1.00
R0620:Pcdhb11	UTSW	18	37421811	nonsense	probably null
R1014:Pcdhb11	UTSW	18	37423369	missense	probably damaging	1.00
R1277:Pcdhb11	UTSW	18	37421716	missense	possibly damaging	0.79
R2034:Pcdhb11	UTSW	18	37422493	missense	probably benign	0.00
R2142:Pcdhb11	UTSW	18	37422123	missense	probably benign	0.28
R2496:Pcdhb11	UTSW	18	37422322	missense	probably benign	0.30
R3077:Pcdhb11	UTSW	18	37422244	missense	probably benign	0.08
R4560:Pcdhb11	UTSW	18	37423734	missense	possibly damaging	0.61
R4590:Pcdhb11	UTSW	18	37422496	missense	probably damaging	0.98
R4642:Pcdhb11	UTSW	18	37421968	missense	probably benign	0.01
R4729:Pcdhb11	UTSW	18	37422366	nonsense	probably null
R5012:Pcdhb11	UTSW	18	37422976	missense	possibly damaging	0.48
R5364:Pcdhb11	UTSW	18	37422179	missense	probably benign	0.06
R5910:Pcdhb11	UTSW	18	37423743	missense	probably benign	0.43
R6023:Pcdhb11	UTSW	18	37422925	missense	possibly damaging	0.94
R6106:Pcdhb11	UTSW	18	37423003	missense	probably damaging	1.00
R6254:Pcdhb11	UTSW	18	37421718	missense	probably damaging	0.99
R6276:Pcdhb11	UTSW	18	37421760	missense	probably benign	0.36
R6360:Pcdhb11	UTSW	18	37422159	missense	probably benign
R6699:Pcdhb11	UTSW	18	37422937	missense	probably damaging	1.00
R6732:Pcdhb11	UTSW	18	37422144	missense	probably benign
R6760:Pcdhb11	UTSW	18	37421584	intron	probably benign
R6916:Pcdhb11	UTSW	18	37422381	missense	possibly damaging	0.52
R7130:Pcdhb11	UTSW	18	37423506	missense	probably benign	0.04
R7267:Pcdhb11	UTSW	18	37421953	missense	possibly damaging	0.61
R7426:Pcdhb11	UTSW	18	37423260	missense	probably damaging	0.99
R7444:Pcdhb11	UTSW	18	37422619	missense	probably damaging	0.98
R7492:Pcdhb11	UTSW	18	37423444	missense	probably damaging	1.00
R7504:Pcdhb11	UTSW	18	37421799	missense	probably benign
R7537:Pcdhb11	UTSW	18	37421619	start codon destroyed	possibly damaging	0.88
R7728:Pcdhb11	UTSW	18	37423477	missense	probably damaging	1.00
R7817:Pcdhb11	UTSW	18	37423909	missense	probably damaging	1.00
R8071:Pcdhb11	UTSW	18	37422369	missense	probably benign	0.02
R8229:Pcdhb11	UTSW	18	37422618	missense	probably benign	0.00
R8254:Pcdhb11	UTSW	18	37422189	missense	probably benign	0.45
R8356:Pcdhb11	UTSW	18	37422199	missense	probably damaging	1.00
R8739:Pcdhb11	UTSW	18	37422496	missense	probably damaging	1.00
R8957:Pcdhb11	UTSW	18	37421639	missense	probably benign	0.43
R8957:Pcdhb11	UTSW	18	37422819	missense	probably benign	0.09
R8964:Pcdhb11	UTSW	18	37423607	missense	probably benign	0.00
R8966:Pcdhb11	UTSW	18	37422984	missense	possibly damaging	0.67
R9188:Pcdhb11	UTSW	18	37423135	missense	probably damaging	1.00
R9253:Pcdhb11	UTSW	18	37421476	intron	probably benign
R9632:Pcdhb11	UTSW	18	37422966	missense	probably damaging	1.00

Posted On

2013-12-09