Mutagenetix > Incidental Mutation

Incidental Mutation 'R4614:Pcdhb16'

344987

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb16

Ensembl Gene

ENSMUSG00000047910

Gene Name

protocadherin beta 16

Synonyms

Pcdhb8, PcdhbP

MMRRC Submission

041825-MU

Accession Numbers

Essential gene?

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

Stock #

R4614 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37610867-37616091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37613398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 786 (G786D)

Ref Sequence

ENSEMBL: ENSMUSP00000056347 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050034] [ENSMUST00000051442] [ENSMUST00000053856] [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 benign
Transcript: ENSMUST00000051442
AA Change: G786D

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000056347
Gene: ENSMUSG00000047910
AA Change: G786D

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: ENSMUST00000053856

SMART Domains

Protein: ENSMUSP00000055072
Gene: ENSMUSG00000046387

Domain	Start	End	E-Value	Type
Pfam:Cadherin_2	31	112	5.8e-35	PFAM
CA	155	240	2.42e-18	SMART
CA	264	345	8.03e-24	SMART
CA	368	449	5.81e-21	SMART
CA	473	559	8.15e-25	SMART
CA	589	670	6.34e-13	SMART
Pfam:Cadherin_C_2	686	770	1.8e-25	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: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (95/97)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	G	13: 77,402,375 (GRCm39)		probably null	Het
4932414N04Rik	C	A	2: 68,575,804 (GRCm39)	T701K	probably benign	Het
Abcb11	A	T	2: 69,115,025 (GRCm39)	H640Q	possibly damaging	Het
Ago2	C	T	15: 73,002,816 (GRCm39)	V139M	probably damaging	Het
Apol11a	A	T	15: 77,400,772 (GRCm39)	K86N	probably benign	Het
Ass1	T	C	2: 31,404,795 (GRCm39)	Y359H	probably damaging	Het
Bpifa3	A	T	2: 153,978,200 (GRCm39)	N34I	probably damaging	Het
Brwd1	A	T	16: 95,848,559 (GRCm39)	L540H	probably damaging	Het
C3ar1	G	A	6: 122,827,680 (GRCm39)	S179F	probably benign	Het
Ccnb1ip1	T	C	14: 51,029,652 (GRCm39)	T137A	probably benign	Het
Cd5l	A	G	3: 87,275,926 (GRCm39)	T299A	probably benign	Het
Cdk12	T	A	11: 98,140,603 (GRCm39)		probably benign	Het
Cep290	T	C	10: 100,344,602 (GRCm39)	M480T	probably benign	Het
Cep290	G	A	10: 100,395,549 (GRCm39)	R2112K	possibly damaging	Het
Chn2	G	A	6: 54,267,388 (GRCm39)	M292I	probably damaging	Het
Cic	TCCCCC	TCCCCCCC	7: 24,991,095 (GRCm39)		probably null	Het
Cpeb1	A	T	7: 81,086,018 (GRCm39)	D41E	possibly damaging	Het
Csf2rb2	C	G	15: 78,175,902 (GRCm39)	C184S	probably damaging	Het
Ctsc	G	A	7: 87,927,583 (GRCm39)		probably null	Het
Cyp2c40	G	A	19: 39,792,300 (GRCm39)	S191L	probably damaging	Het
Dagla	T	C	19: 10,225,641 (GRCm39)	E841G	probably damaging	Het
Dld	A	T	12: 31,383,944 (GRCm39)	Y386*	probably null	Het
Dpp8	G	A	9: 64,973,678 (GRCm39)	S634N	probably benign	Het
Duox2	A	T	2: 122,120,038 (GRCm39)	V824E	probably damaging	Het
Dync2h1	A	C	9: 7,011,290 (GRCm39)	S3634R	probably benign	Het
Eef1d	T	C	15: 75,775,425 (GRCm39)	N78S	probably benign	Het
Fcrl5	T	A	3: 87,355,733 (GRCm39)	I482N	probably damaging	Het
Fezf1	A	T	6: 23,247,857 (GRCm39)	C73S	possibly damaging	Het
Fgfr1	A	G	8: 26,047,813 (GRCm39)	D53G	probably benign	Het
Fmn1	T	C	2: 113,195,494 (GRCm39)	L398S	unknown	Het
Gm17175	T	C	14: 51,809,042 (GRCm39)	Q108R	probably benign	Het
Gm28042	G	A	2: 119,871,639 (GRCm39)	G669D	probably damaging	Het
Gm6185	A	G	1: 161,050,669 (GRCm39)		noncoding transcript	Het
Gucy2g	A	T	19: 55,190,579 (GRCm39)	C1018*	probably null	Het
H2-Q10	A	T	17: 35,784,917 (GRCm39)		probably benign	Het
H2-T22	T	G	17: 36,351,429 (GRCm39)	Q267P	probably benign	Het
Hibadh	A	G	6: 52,523,915 (GRCm39)	Y328H	possibly damaging	Het
Hsd3b3	T	A	3: 98,649,396 (GRCm39)	Y309F	probably benign	Het
Ighv1-37	C	T	12: 114,859,863 (GRCm39)	A116T	probably benign	Het
Ighv1-82	T	C	12: 115,916,280 (GRCm39)	T77A	probably benign	Het
Igkv8-21	A	T	6: 70,292,141 (GRCm39)	S34T	probably benign	Het
Insyn1	AGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGG	9: 58,406,715 (GRCm39)		probably benign	Het
Iqch	A	G	9: 63,389,863 (GRCm39)	M733T	probably benign	Het
Jakmip2	T	A	18: 43,695,657 (GRCm39)	D539V	probably damaging	Het
Lgi2	A	G	5: 52,695,775 (GRCm39)	S395P	probably damaging	Het
Lrrc40	A	T	3: 157,760,271 (GRCm39)	N344I	probably damaging	Het
Ltbp1	G	A	17: 75,596,989 (GRCm39)		probably benign	Het
Metap1d	C	T	2: 71,355,292 (GRCm39)	P332L	probably benign	Het
Mfap4	C	A	11: 61,376,335 (GRCm39)		probably benign	Het
Mis18bp1	T	A	12: 65,200,303 (GRCm39)		probably benign	Het
Mta2	T	C	19: 8,925,492 (GRCm39)		probably null	Het
Mtmr4	T	C	11: 87,501,761 (GRCm39)	L548S	probably damaging	Het
Muc4	A	G	16: 32,577,432 (GRCm39)	K241E	probably benign	Het
Mup18	T	A	4: 61,590,154 (GRCm39)	I125F	possibly damaging	Het
Nfs1	A	G	2: 155,985,970 (GRCm39)	S31P	probably benign	Het
Or10g6	T	A	9: 39,934,255 (GRCm39)	C189S	probably damaging	Het
Or10z1	A	G	1: 174,078,188 (GRCm39)	F102L	possibly damaging	Het
Or2f1b	G	T	6: 42,739,352 (GRCm39)	R122L	probably benign	Het
Otogl	A	T	10: 107,727,985 (GRCm39)	C245*	probably null	Het
Pdcd5	C	T	7: 35,346,472 (GRCm39)		probably benign	Het
Phkg2	C	T	7: 127,176,792 (GRCm39)	R61W	probably damaging	Het
Piezo1	A	T	8: 123,213,150 (GRCm39)	I1871N	probably benign	Het
Pkd2l1	C	A	19: 44,142,573 (GRCm39)	A490S	probably damaging	Het
Plxnd1	T	C	6: 115,949,486 (GRCm39)	T767A	possibly damaging	Het
Polr3c	T	G	3: 96,623,787 (GRCm39)	I322L	probably benign	Het
Ppp1r26	C	A	2: 28,340,860 (GRCm39)	H163Q	probably benign	Het
Prox1	T	G	1: 189,894,205 (GRCm39)	Y80S	probably damaging	Het
Pygl	T	C	12: 70,257,753 (GRCm39)		probably null	Het
Rab23	T	C	1: 33,778,466 (GRCm39)	V236A	probably benign	Het
Setd2	T	C	9: 110,398,881 (GRCm39)		probably null	Het
Slc5a7	A	G	17: 54,583,587 (GRCm39)	S568P	probably benign	Het
Smpd3	A	G	8: 106,986,371 (GRCm39)	L477P	probably damaging	Het
Spg21	A	G	9: 65,387,671 (GRCm39)		probably null	Het
Spta1	A	T	1: 174,020,543 (GRCm39)	I551F	probably damaging	Het
Supt5	A	T	7: 28,025,397 (GRCm39)	I135N	possibly damaging	Het
Tacstd2	A	G	6: 67,512,170 (GRCm39)	F174S	probably damaging	Het
Tas1r2	A	T	4: 139,387,098 (GRCm39)	T186S	probably damaging	Het
Tie1	A	G	4: 118,336,248 (GRCm39)	Y673H	probably damaging	Het
Tom1l1	A	T	11: 90,561,952 (GRCm39)	N190K	probably damaging	Het
Tox2	T	C	2: 163,162,567 (GRCm39)	L479P	probably damaging	Het
Tox4	C	T	14: 52,524,924 (GRCm39)	T249I	probably damaging	Het
Trmt1l	C	T	1: 151,329,799 (GRCm39)	Q581*	probably null	Het
Vmn1r49	A	G	6: 90,049,534 (GRCm39)	V156A	probably benign	Het
Vmn2r13	A	T	5: 109,323,065 (GRCm39)	F75I	probably benign	Het
Washc2	T	A	6: 116,215,135 (GRCm39)	S502T	possibly damaging	Het
Wnk4	A	T	11: 101,164,937 (GRCm39)	E755D	probably benign	Het
Zfp207	T	A	11: 80,286,016 (GRCm39)		probably benign	Het
Zfp352	A	G	4: 90,113,318 (GRCm39)	K486R	probably benign	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
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
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'- ATAGCCTTGGCTTCTGTGTC -3'
(R):5'- CCATGGAGAGAATAGCCTGC -3'

Sequencing Primer
(F):5'- AGAGCCAGGGAGGTCTCTC -3'
(R):5'- GCCTGCAAACAAGTTTTAAGTATG -3'

Posted On

2015-09-25