Mutagenetix > Incidental Mutation

Incidental Mutation 'R1809:Pcdhb16'

203753

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb16

Ensembl Gene

ENSMUSG00000047910

Gene Name

protocadherin beta 16

Synonyms

Pcdhb8, PcdhbP

MMRRC Submission

039838-MU

Accession Numbers

Essential gene?

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

Stock #

R1809 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37610867-37616091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37611441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 134 (F134L)

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: F134L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000056347
Gene: ENSMUSG00000047910
AA Change: F134L

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

0.2514

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.9%
20x: 91.2%

Validation Efficiency

96% (107/111)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	A	G	5: 36,000,614 (GRCm39)		probably benign	Het
Adamts20	C	T	15: 94,238,968 (GRCm39)	S750N	probably damaging	Het
Adh6a	G	A	3: 138,036,722 (GRCm39)	R370H	possibly damaging	Het
Akr1b7	A	G	6: 34,396,046 (GRCm39)	N183D	probably damaging	Het
Aktip	A	T	8: 91,856,348 (GRCm39)	I43N	probably damaging	Het
Ankrd26	A	T	6: 118,502,883 (GRCm39)		probably benign	Het
Ano9	G	A	7: 140,688,717 (GRCm39)	T144I	possibly damaging	Het
Anpep	G	T	7: 79,491,571 (GRCm39)	D143E	probably benign	Het
Aox1	C	A	1: 58,333,484 (GRCm39)	Q234K	probably benign	Het
Ap1g1	C	G	8: 110,559,814 (GRCm39)		probably benign	Het
Arhgef4	G	A	1: 34,849,636 (GRCm39)		probably null	Het
Arsj	A	G	3: 126,231,944 (GRCm39)	Y230C	possibly damaging	Het
Asmt	C	T	X: 169,109,480 (GRCm39)		probably benign	Het
Astl	A	T	2: 127,187,405 (GRCm39)	K72N	probably damaging	Het
Atp2b2	G	A	6: 113,780,704 (GRCm39)		probably benign	Het
Baiap2l1	A	C	5: 144,261,365 (GRCm39)		probably null	Het
C7	A	T	15: 5,063,821 (GRCm39)	N193K	probably damaging	Het
Cacna2d4	G	T	6: 119,247,785 (GRCm39)	R362L	probably damaging	Het
Cct4	T	A	11: 22,947,615 (GRCm39)	D189E	probably benign	Het
Cd300lg	G	A	11: 101,933,938 (GRCm39)	G62S	probably benign	Het
Cdk14	T	A	5: 5,060,901 (GRCm39)	M307L	probably damaging	Het
Cfi	G	A	3: 129,666,768 (GRCm39)		probably null	Het
Clec2g	G	T	6: 128,957,273 (GRCm39)		probably null	Het
Cntnap2	T	C	6: 46,965,609 (GRCm39)	S807P	probably damaging	Het
Col6a3	T	A	1: 90,755,671 (GRCm39)	H206L	probably damaging	Het
Ct55	A	G	X: 52,735,716 (GRCm39)	E99G	probably benign	Het
Cyp2c23	A	T	19: 44,009,997 (GRCm39)		probably benign	Het
Degs1l	T	C	1: 180,887,252 (GRCm39)	I279T	probably damaging	Het
Dlec1	T	C	9: 118,965,767 (GRCm39)	V1058A	probably benign	Het
Dpp9	A	G	17: 56,506,038 (GRCm39)	Y454H	probably damaging	Het
Drosha	G	A	15: 12,890,198 (GRCm39)	G920R	probably null	Het
Duox2	A	G	2: 122,114,378 (GRCm39)	S1142P	possibly damaging	Het
Fam13a	C	T	6: 58,942,045 (GRCm39)		probably null	Het
Filip1l	A	G	16: 57,327,023 (GRCm39)	R18G	probably benign	Het
Foxa1	A	G	12: 57,589,527 (GRCm39)	V231A	probably damaging	Het
Gm4787	A	T	12: 81,425,303 (GRCm39)	M285K	possibly damaging	Het
Gm5084	T	A	13: 60,360,320 (GRCm39)		noncoding transcript	Het
Gm6788	G	A	19: 28,740,586 (GRCm39)		noncoding transcript	Het
Gm9922	G	T	14: 101,966,841 (GRCm39)		probably benign	Het
Gtf3c4	A	T	2: 28,723,988 (GRCm39)	Y440*	probably null	Het
Helq	A	G	5: 100,921,820 (GRCm39)	S795P	probably damaging	Het
Helz	T	A	11: 107,489,997 (GRCm39)	S151T	possibly damaging	Het
Irgm1	T	C	11: 48,757,440 (GRCm39)	T124A	probably benign	Het
Itgam	C	T	7: 127,670,109 (GRCm39)	P134S	possibly damaging	Het
Kdm6a	T	C	X: 18,102,923 (GRCm39)	Y217H	probably benign	Het
Kif6	T	C	17: 50,208,812 (GRCm39)	L744P	probably benign	Het
Kmt2c	C	T	5: 25,489,190 (GRCm39)	R1203H	probably damaging	Het
Ksr2	A	G	5: 117,693,535 (GRCm39)	T328A	probably damaging	Het
Lig1	T	C	7: 13,034,281 (GRCm39)		probably benign	Het
Lpar3	G	A	3: 145,946,303 (GRCm39)		probably benign	Het
Lrrk2	T	C	15: 91,584,095 (GRCm39)	F285S	possibly damaging	Het
Marchf7	A	G	2: 60,062,637 (GRCm39)	D148G	probably benign	Het
Mcee	T	C	7: 64,050,049 (GRCm39)	L60S	probably damaging	Het
Mob2	A	G	7: 141,570,111 (GRCm39)	I81T	probably damaging	Het
Mphosph8	T	A	14: 56,909,909 (GRCm39)	D87E	probably damaging	Het
Msantd5f9	A	G	4: 73,835,754 (GRCm39)	F237L	probably benign	Het
Myo1g	T	C	11: 6,462,283 (GRCm39)	T560A	probably benign	Het
Nagk	C	T	6: 83,774,169 (GRCm39)	T42I	probably benign	Het
Naip1	G	T	13: 100,562,747 (GRCm39)	T806K	probably benign	Het
Ncor2	A	G	5: 125,195,857 (GRCm39)		probably benign	Het
Ocln	G	T	13: 100,647,967 (GRCm39)	Y401*	probably null	Het
Odad2	T	A	18: 7,211,630 (GRCm39)	Y748F	probably benign	Het
Oma1	T	A	4: 103,182,374 (GRCm39)	N292K	probably damaging	Het
Or8b55	G	A	9: 38,727,443 (GRCm39)	V215I	probably benign	Het
Ovch2	T	A	7: 107,389,412 (GRCm39)		probably null	Het
Pipox	A	T	11: 77,772,360 (GRCm39)	Y337N	probably benign	Het
Polr3b	A	G	10: 84,528,865 (GRCm39)	D763G	probably damaging	Het
Pygo1	T	A	9: 72,852,078 (GRCm39)	N88K	probably damaging	Het
Rab3gap1	T	C	1: 127,862,251 (GRCm39)	M674T	probably damaging	Het
Rbm25	T	C	12: 83,719,501 (GRCm39)		probably benign	Het
Rbm26	C	T	14: 105,354,542 (GRCm39)		probably benign	Het
Rbms2	G	A	10: 127,974,055 (GRCm39)	T187I	possibly damaging	Het
Rnase11	T	A	14: 51,287,184 (GRCm39)	R123S	probably benign	Het
Rngtt	A	G	4: 33,443,614 (GRCm39)	N485D	probably benign	Het
Rp1l1	A	T	14: 64,265,415 (GRCm39)	M334L	probably benign	Het
Rps9	T	A	7: 3,707,726 (GRCm39)	L56Q	probably damaging	Het
Saysd1	C	A	14: 20,133,170 (GRCm39)		probably benign	Het
Sema4d	C	T	13: 51,867,727 (GRCm39)		probably null	Het
Shisa5	A	T	9: 108,869,998 (GRCm39)	D34V	probably damaging	Het
Skil	A	G	3: 31,171,655 (GRCm39)	D547G	probably damaging	Het
Slc2a5	T	A	4: 150,227,514 (GRCm39)	F444L	probably damaging	Het
Slc9b2	T	G	3: 135,022,892 (GRCm39)	C10G	possibly damaging	Het
Sorcs2	G	T	5: 36,386,564 (GRCm39)		probably benign	Het
Stk17b	T	G	1: 53,805,140 (GRCm39)	K140N	possibly damaging	Het
Stradb	T	A	1: 59,033,549 (GRCm39)	L404Q	possibly damaging	Het
Synj2	T	C	17: 6,076,826 (GRCm39)	M432T	possibly damaging	Het
Tanc1	G	T	2: 59,630,441 (GRCm39)	R800L	probably damaging	Het
Tenm4	A	G	7: 96,522,987 (GRCm39)	M1473V	probably benign	Het
Tesc	A	G	5: 118,199,667 (GRCm39)	I190V	probably benign	Het
Tex15	T	C	8: 34,064,262 (GRCm39)	F1231L	probably benign	Het
Thrsp	T	C	7: 97,066,332 (GRCm39)	I127V	probably benign	Het
Tlr6	A	T	5: 65,111,055 (GRCm39)	C617*	probably null	Het
Trank1	A	T	9: 111,221,893 (GRCm39)	I2877F	probably benign	Het
Tut4	T	A	4: 108,406,552 (GRCm39)	H1373Q	probably damaging	Het
Ucp1	T	C	8: 84,024,496 (GRCm39)	S274P	probably damaging	Het
Ucp2	T	A	7: 100,147,606 (GRCm39)	V195E	probably damaging	Het
Vars2	T	C	17: 35,973,108 (GRCm39)	T394A	probably damaging	Het
Vmn1r1	A	G	1: 181,985,371 (GRCm39)	V98A	possibly damaging	Het
Vmn1r225	A	G	17: 20,722,918 (GRCm39)	I120V	probably benign	Het
Vmn2r102	A	T	17: 19,897,881 (GRCm39)	M299L	probably benign	Het
Vmn2r25	A	G	6: 123,802,337 (GRCm39)	V522A	probably benign	Het
Vmn2r70	T	C	7: 85,215,130 (GRCm39)	I135V	probably benign	Het
Vwf	T	C	6: 125,567,138 (GRCm39)		probably benign	Het
Zfp446	T	C	7: 12,713,048 (GRCm39)	F29L	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
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
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'- CATTTGCAGCTGGATCAGGAG -3'
(R):5'- TTCCAGACCTAGGCAGAGAG -3'

Sequencing Primer
(F):5'- AGACAGGGGATTTGCTGTTAAATG -3'
(R):5'- AGTGCTCTGTCTAGTACCAGTTCAG -3'

Posted On

2014-06-23