Mutagenetix > Incidental Mutation

Incidental Mutation 'R1468:Pcdhb16'

164720

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb16

Ensembl Gene

ENSMUSG00000047910

Gene Name

protocadherin beta 16

Synonyms

Pcdhb8, PcdhbP

MMRRC Submission

039521-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R1468 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37610867-37616091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37611142 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 34 (Y34F)

Ref Sequence

ENSEMBL: ENSMUSP00000056347 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050034] [ENSMUST00000051442] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

Q91Y03

Predicted Effect

probably benign
Transcript: ENSMUST00000050034

SMART Domains

Protein: ENSMUSP00000059598
Gene: ENSMUSG00000047033

Domain	Start	End	E-Value	Type
Pfam:Cadherin_2	30	112	2.6e-33	PFAM
CA	155	240	7.79e-22	SMART
CA	264	345	4.37e-25	SMART
CA	368	449	4.4e-21	SMART
CA	473	559	7.38e-23	SMART
CA	589	670	4.48e-13	SMART
Pfam:Cadherin_C_2	686	770	5.3e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000051442
AA Change: Y34F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000056347
Gene: ENSMUSG00000047910
AA Change: Y34F

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
CA	46	132	7.7e-1	SMART
CA	156	241	1.93e-17	SMART
CA	265	346	4.2e-27	SMART
CA	369	450	1.08e-24	SMART
CA	474	560	3.31e-25	SMART
CA	590	671	2.87e-11	SMART
Pfam:Cadherin_C_2	687	770	4.1e-27	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

0.5116

Coding Region Coverage

1x: 99.7%
3x: 98.4%
10x: 90.8%
20x: 69.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	T	G	7: 12,246,507 (GRCm39)	M1R	probably null	Het
5031439G07Rik	G	T	15: 84,837,345 (GRCm39)	P280T	probably damaging	Het
Abca2	C	T	2: 25,331,308 (GRCm39)	S1267L	probably damaging	Het
Acsl3	A	T	1: 78,684,126 (GRCm39)	R719S	probably benign	Het
Adam1a	A	T	5: 121,657,839 (GRCm39)		probably null	Het
Aldh6a1	T	C	12: 84,488,544 (GRCm39)	E89G	possibly damaging	Het
Ankrd36	A	G	11: 5,525,752 (GRCm39)	Y238C	probably damaging	Het
Ankrd65	G	A	4: 155,877,362 (GRCm39)	R291Q	probably benign	Het
Ano2	C	T	6: 125,773,227 (GRCm39)	R287W	probably damaging	Het
Ap1ar	A	G	3: 127,606,215 (GRCm39)	I125T	probably benign	Het
Arid1b	A	G	17: 5,293,197 (GRCm39)	D705G	probably damaging	Het
Asb18	T	A	1: 89,924,005 (GRCm39)	N86I	probably damaging	Het
Bicral	A	T	17: 47,135,519 (GRCm39)	S564T	probably benign	Het
Bpifa6	A	G	2: 153,831,192 (GRCm39)	M253V	probably benign	Het
Braf	T	C	6: 39,642,017 (GRCm39)	D194G	probably damaging	Het
Brinp3	C	A	1: 146,777,700 (GRCm39)	P716T	probably benign	Het
C7	T	A	15: 5,041,631 (GRCm39)	Y425F	probably damaging	Het
Ccdc102a	T	C	8: 95,632,714 (GRCm39)	K421R	probably benign	Het
Cep89	G	A	7: 35,120,388 (GRCm39)		probably null	Het
Chgb	A	T	2: 132,634,720 (GRCm39)	M221L	probably benign	Het
Chst14	A	G	2: 118,758,145 (GRCm39)	Y313C	probably damaging	Het
Ciita	G	A	16: 10,331,152 (GRCm39)		probably null	Het
Clec12b	A	T	6: 129,357,603 (GRCm39)	I85N	probably damaging	Het
Clec2e	G	T	6: 129,070,459 (GRCm39)	Y187*	probably null	Het
Crbn	T	C	6: 106,767,804 (GRCm39)	K229E	probably benign	Het
Ctdspl2	A	T	2: 121,811,762 (GRCm39)	Q201L	probably benign	Het
Cyp2c55	T	A	19: 38,999,525 (GRCm39)	V77E	probably damaging	Het
Cyp2c69	A	C	19: 39,837,839 (GRCm39)	D414E	probably damaging	Het
Dlg1	A	G	16: 31,661,640 (GRCm39)		probably null	Het
Dnah5	C	A	15: 28,230,609 (GRCm39)	S169*	probably null	Het
Dock4	C	A	12: 40,805,809 (GRCm39)	T927K	probably benign	Het
Esrp2	T	G	8: 106,860,453 (GRCm39)	D259A	probably damaging	Het
Fam169a	A	G	13: 97,255,038 (GRCm39)	K418R	probably benign	Het
Fancm	A	T	12: 65,146,067 (GRCm39)	I597F	probably damaging	Het
Fat1	G	A	8: 45,463,582 (GRCm39)	V1375M	probably damaging	Het
Fbxw10	A	T	11: 62,753,464 (GRCm39)	D486V	probably damaging	Het
Fermt1	C	T	2: 132,766,942 (GRCm39)	E342K	probably benign	Het
Foxp1	T	A	6: 98,955,181 (GRCm39)	H195L	possibly damaging	Het
Gfra1	T	A	19: 58,440,407 (GRCm39)	I138L	probably benign	Het
Gm12185	T	C	11: 48,806,501 (GRCm39)	D230G	possibly damaging	Het
Gpd2	A	C	2: 57,245,786 (GRCm39)	T439P	probably damaging	Het
Gpm6a	A	T	8: 55,490,385 (GRCm39)	K20N	probably damaging	Het
Hc	A	T	2: 34,873,819 (GRCm39)	Y158*	probably null	Het
Hectd4	A	T	5: 121,487,235 (GRCm39)	D3410V	possibly damaging	Het
Il17b	G	A	18: 61,823,483 (GRCm39)		probably null	Het
Irx4	G	T	13: 73,413,695 (GRCm39)	R55L	possibly damaging	Het
Lama3	T	C	18: 12,574,164 (GRCm39)	V582A	probably benign	Het
Ldhd	G	T	8: 112,353,925 (GRCm39)	A425E	possibly damaging	Het
Lrp1b	C	T	2: 40,817,841 (GRCm39)		probably null	Het
Lrp5	T	C	19: 3,670,191 (GRCm39)	T638A	possibly damaging	Het
Lrrk1	A	C	7: 65,909,722 (GRCm39)	F1996C	probably damaging	Het
Ly6h	G	A	15: 75,437,986 (GRCm39)	S21L	probably benign	Het
Mctp1	T	C	13: 76,973,392 (GRCm39)	V431A	probably benign	Het
Metap2	C	T	10: 93,707,345 (GRCm39)		probably null	Het
Mfsd2b	T	A	12: 4,920,536 (GRCm39)	K94*	probably null	Het
Micall2	A	G	5: 139,705,097 (GRCm39)	L79P	probably damaging	Het
Mucl2	T	C	15: 103,927,673 (GRCm39)	T95A	possibly damaging	Het
Myo15a	A	T	11: 60,396,832 (GRCm39)	T2634S	probably damaging	Het
Myo5b	G	T	18: 74,873,574 (GRCm39)	V1467L	probably damaging	Het
Nfic	G	T	10: 81,256,414 (GRCm39)	D105E	probably damaging	Het
Nrdc	T	A	4: 108,873,865 (GRCm39)	F227Y	probably benign	Het
Nrp2	A	T	1: 62,777,458 (GRCm39)	I88F	probably damaging	Het
Nup160	A	T	2: 90,530,887 (GRCm39)	H515L	probably benign	Het
Nup205	G	A	6: 35,202,917 (GRCm39)		probably null	Het
Oas1g	G	A	5: 121,020,069 (GRCm39)	T179I	probably benign	Het
Ogfr	A	T	2: 180,236,543 (GRCm39)	E376V	probably damaging	Het
Or2l13	T	G	16: 19,306,378 (GRCm39)	S263R	probably benign	Het
Or4a69	A	T	2: 89,312,855 (GRCm39)	V208D	possibly damaging	Het
Or4c107	T	G	2: 88,789,387 (GRCm39)	Y192*	probably null	Het
Or52d1	G	T	7: 103,755,896 (GRCm39)	V137F	possibly damaging	Het
Or5p6	C	T	7: 107,631,595 (GRCm39)		probably null	Het
Pard3b	T	C	1: 62,384,188 (GRCm39)	V851A	probably benign	Het
Pikfyve	T	C	1: 65,290,825 (GRCm39)	Y1215H	probably damaging	Het
Pkhd1	A	T	1: 20,593,565 (GRCm39)	V1516E	probably damaging	Het
Ptprg	A	T	14: 12,190,767 (GRCm38)	I818F	probably benign	Het
Ralgapb	A	G	2: 158,304,173 (GRCm39)	E644G	possibly damaging	Het
Rbm45	A	G	2: 76,202,459 (GRCm39)	I127M	probably damaging	Het
Rtp2	T	C	16: 23,746,220 (GRCm39)	Y157C	probably damaging	Het
Sf3b3	A	T	8: 111,564,006 (GRCm39)	Y329N	probably damaging	Het
Sfxn1	A	G	13: 54,239,646 (GRCm39)		probably null	Het
Shkbp1	A	T	7: 27,044,751 (GRCm39)	C447S	probably damaging	Het
Sipa1l3	A	G	7: 29,021,685 (GRCm39)	S689P	possibly damaging	Het
Slc7a8	A	G	14: 54,970,656 (GRCm39)	S332P	probably damaging	Het
Slit1	C	A	19: 41,596,823 (GRCm39)	C1092F	probably damaging	Het
Stard9	A	G	2: 120,533,678 (GRCm39)	I619V	possibly damaging	Het
Sycp3	T	C	10: 88,305,454 (GRCm39)	V185A	possibly damaging	Het
Taar9	A	T	10: 23,985,382 (GRCm39)	N17K	possibly damaging	Het
Tbkbp1	T	C	11: 97,039,814 (GRCm39)	E102G	probably damaging	Het
Tex44	A	G	1: 86,354,834 (GRCm39)	N248D	probably benign	Het
Tmem63b	C	G	17: 45,989,904 (GRCm39)	R88P	possibly damaging	Het
Tnpo1	C	T	13: 98,986,665 (GRCm39)	V781I	probably benign	Het
Tonsl	C	T	15: 76,520,761 (GRCm39)		probably null	Het
Ttc6	A	G	12: 57,721,463 (GRCm39)	K984R	possibly damaging	Het
Usp34	A	G	11: 23,391,171 (GRCm39)	E2263G	probably damaging	Het
Usp8	A	G	2: 126,596,847 (GRCm39)	K875E	probably damaging	Het
Vmn1r223	A	G	13: 23,434,038 (GRCm39)	I211V	possibly damaging	Het
Vmn2r81	G	A	10: 79,129,496 (GRCm39)	V796I	probably damaging	Het
Wdr90	A	T	17: 26,073,027 (GRCm39)	V856D	probably damaging	Het
Wnk2	T	A	13: 49,235,571 (GRCm39)	T615S	probably damaging	Het

Other mutations in Pcdhb16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Pcdhb16	APN	18	37,611,623 (GRCm39)	missense	possibly damaging	0.95
IGL00540:Pcdhb16	APN	18	37,612,851 (GRCm39)	missense	probably damaging	1.00
IGL01380:Pcdhb16	APN	18	37,612,498 (GRCm39)	missense	probably benign	0.30
IGL02043:Pcdhb16	APN	18	37,612,248 (GRCm39)	missense	probably benign	0.05
IGL02103:Pcdhb16	APN	18	37,613,161 (GRCm39)	missense	probably benign	0.19
IGL02151:Pcdhb16	APN	18	37,611,411 (GRCm39)	missense	possibly damaging	0.80
IGL02619:Pcdhb16	APN	18	37,611,270 (GRCm39)	nonsense	probably null
IGL02832:Pcdhb16	APN	18	37,611,527 (GRCm39)	missense	probably damaging	1.00
IGL03190:Pcdhb16	APN	18	37,612,396 (GRCm39)	missense	probably damaging	1.00
IGL03274:Pcdhb16	APN	18	37,612,285 (GRCm39)	missense	probably benign	0.04
IGL03292:Pcdhb16	APN	18	37,613,437 (GRCm39)	missense	probably damaging	0.99
BB008:Pcdhb16	UTSW	18	37,611,510 (GRCm39)	missense	possibly damaging	0.90
BB018:Pcdhb16	UTSW	18	37,611,510 (GRCm39)	missense	possibly damaging	0.90
R0076:Pcdhb16	UTSW	18	37,611,412 (GRCm39)	missense	probably damaging	1.00
R0423:Pcdhb16	UTSW	18	37,613,422 (GRCm39)	missense	probably benign	0.00
R1191:Pcdhb16	UTSW	18	37,612,926 (GRCm39)	missense	probably damaging	1.00
R1254:Pcdhb16	UTSW	18	37,612,348 (GRCm39)	missense	possibly damaging	0.67
R1417:Pcdhb16	UTSW	18	37,611,180 (GRCm39)	missense	probably benign	0.00
R1468:Pcdhb16	UTSW	18	37,611,142 (GRCm39)	missense	probably damaging	1.00
R1517:Pcdhb16	UTSW	18	37,611,151 (GRCm39)	missense	probably benign	0.03
R1645:Pcdhb16	UTSW	18	37,612,423 (GRCm39)	missense	probably benign	0.05
R1706:Pcdhb16	UTSW	18	37,612,705 (GRCm39)	missense	probably benign	0.26
R1770:Pcdhb16	UTSW	18	37,612,233 (GRCm39)	missense	probably damaging	1.00
R1809:Pcdhb16	UTSW	18	37,611,441 (GRCm39)	missense	probably damaging	0.99
R1946:Pcdhb16	UTSW	18	37,611,952 (GRCm39)	nonsense	probably null
R1967:Pcdhb16	UTSW	18	37,612,715 (GRCm39)	missense	probably damaging	1.00
R2008:Pcdhb16	UTSW	18	37,611,316 (GRCm39)	missense	probably damaging	1.00
R2220:Pcdhb16	UTSW	18	37,612,020 (GRCm39)	missense	probably benign	0.16
R2432:Pcdhb16	UTSW	18	37,612,983 (GRCm39)	missense	probably damaging	0.98
R3121:Pcdhb16	UTSW	18	37,611,271 (GRCm39)	missense	possibly damaging	0.55
R3692:Pcdhb16	UTSW	18	37,611,340 (GRCm39)	missense	probably benign	0.28
R3766:Pcdhb16	UTSW	18	37,611,249 (GRCm39)	nonsense	probably null
R3891:Pcdhb16	UTSW	18	37,612,422 (GRCm39)	missense	probably benign	0.19
R3892:Pcdhb16	UTSW	18	37,612,422 (GRCm39)	missense	probably benign	0.19
R4551:Pcdhb16	UTSW	18	37,612,887 (GRCm39)	missense	probably damaging	1.00
R4614:Pcdhb16	UTSW	18	37,613,398 (GRCm39)	missense	probably benign	0.22
R4716:Pcdhb16	UTSW	18	37,612,458 (GRCm39)	missense	probably benign	0.02
R4908:Pcdhb16	UTSW	18	37,612,894 (GRCm39)	splice site	probably null
R5185:Pcdhb16	UTSW	18	37,613,142 (GRCm39)	missense	possibly damaging	0.96
R5225:Pcdhb16	UTSW	18	37,613,011 (GRCm39)	missense	probably benign	0.02
R5422:Pcdhb16	UTSW	18	37,612,920 (GRCm39)	missense	probably damaging	1.00
R5939:Pcdhb16	UTSW	18	37,611,117 (GRCm39)	missense	probably benign
R6149:Pcdhb16	UTSW	18	37,612,208 (GRCm39)	missense	possibly damaging	0.95
R6647:Pcdhb16	UTSW	18	37,612,225 (GRCm39)	missense	possibly damaging	0.57
R7080:Pcdhb16	UTSW	18	37,611,516 (GRCm39)	nonsense	probably null
R7354:Pcdhb16	UTSW	18	37,611,177 (GRCm39)	missense	possibly damaging	0.79
R7413:Pcdhb16	UTSW	18	37,611,975 (GRCm39)	nonsense	probably null
R7459:Pcdhb16	UTSW	18	37,612,606 (GRCm39)	missense	probably benign	0.26
R7655:Pcdhb16	UTSW	18	37,612,458 (GRCm39)	missense	probably benign	0.02
R7656:Pcdhb16	UTSW	18	37,612,458 (GRCm39)	missense	probably benign	0.02
R7827:Pcdhb16	UTSW	18	37,611,904 (GRCm39)	missense	possibly damaging	0.95
R7921:Pcdhb16	UTSW	18	37,611,298 (GRCm39)	missense	probably damaging	1.00
R7931:Pcdhb16	UTSW	18	37,611,510 (GRCm39)	missense	possibly damaging	0.90
R8133:Pcdhb16	UTSW	18	37,611,185 (GRCm39)	missense	probably damaging	0.99
R8749:Pcdhb16	UTSW	18	37,612,392 (GRCm39)	missense	possibly damaging	0.66
R9468:Pcdhb16	UTSW	18	37,611,482 (GRCm39)	missense	probably damaging	0.99
R9540:Pcdhb16	UTSW	18	37,613,320 (GRCm39)	missense	probably benign	0.00
Z1176:Pcdhb16	UTSW	18	37,612,213 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTTGTCTGCCCAAGAAGGCAC -3'
(R):5'- AAGCATGGCTCTGTATGCCCAC -3'

Sequencing Primer
(F):5'- CACTGCCAGATAAAGGTAGCTTTAG -3'
(R):5'- TGTATGCCCACACAGTTTTTC -3'

Posted On

2014-03-28