Mutagenetix > Incidental Mutation

Incidental Mutation 'R0730:Pcdhb14'

67520

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb14

Ensembl Gene

ENSMUSG00000044043

Gene Name

protocadherin beta 14

Synonyms

Pcdhb17, 2210006M07Rik, PcdhbN

MMRRC Submission

038911-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R0730 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37580710-37584147 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 37581921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 342 (D342E)

Ref Sequence

ENSEMBL: ENSMUSP00000054111 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052387] [ENSMUST00000056915] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

Q6PB90

PDB Structure

Solution structure of mouse protocadherin beta 14 (26-137) [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000052387
AA Change: D342E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054111
Gene: ENSMUSG00000044043
AA Change: D342E

Domain	Start	End	E-Value	Type
Pfam:Cadherin_2	30	112	1.4e-35	PFAM
CA	155	240	1.53e-20	SMART
CA	264	345	3.52e-29	SMART
CA	368	449	2.24e-22	SMART
CA	473	559	2.38e-26	SMART
CA	589	670	4.12e-12	SMART
Pfam:Cadherin_C_2	685	768	4.9e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056915

SMART Domains

Protein: ENSMUSP00000061087
Gene: ENSMUSG00000047307

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
CA	58	130	5.5e-1	SMART
CA	154	239	8.55e-19	SMART
CA	263	343	3.36e-26	SMART
CA	366	447	2.24e-22	SMART
CA	471	557	1.08e-24	SMART
CA	587	668	1.25e-11	SMART
Pfam:Cadherin_C_2	685	768	2.4e-23	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

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.1%

Validation Efficiency

99% (99/100)

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam9	A	T	8: 25,486,774 (GRCm39)	I168N	probably benign	Het
Adamts20	G	A	15: 94,245,571 (GRCm39)	A577V	probably benign	Het
Agtr1a	A	T	13: 30,565,279 (GRCm39)	S115C	probably damaging	Het
Ankrd11	T	C	8: 123,618,692 (GRCm39)	Y1720C	probably damaging	Het
Ano6	A	T	15: 95,818,252 (GRCm39)	T353S	probably damaging	Het
App	A	G	16: 84,876,840 (GRCm39)	F184L	probably damaging	Het
Arhgef38	T	A	3: 132,843,232 (GRCm39)	Y446F	probably benign	Het
Aspg	T	A	12: 112,078,693 (GRCm39)	Y57*	probably null	Het
Atp1a4	G	A	1: 172,067,774 (GRCm39)		probably benign	Het
Bdp1	G	A	13: 100,195,459 (GRCm39)		probably benign	Het
Bicd2	T	A	13: 49,531,717 (GRCm39)	S246T	possibly damaging	Het
Brd10	T	A	19: 29,695,381 (GRCm39)	I1438F	probably benign	Het
Bsn	T	A	9: 107,984,011 (GRCm39)	M3348L	unknown	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Cacna2d3	T	C	14: 28,704,322 (GRCm39)	I820V	probably benign	Het
Cdc40	A	G	10: 40,720,952 (GRCm39)		probably benign	Het
Cdh23	T	C	10: 60,159,493 (GRCm39)	E2094G	probably damaging	Het
Celsr2	T	A	3: 108,305,922 (GRCm39)	N2061Y	probably damaging	Het
Cfap206	G	A	4: 34,711,391 (GRCm39)	A502V	probably benign	Het
Cfap54	T	C	10: 92,870,599 (GRCm39)	T29A	probably benign	Het
Cfap57	T	C	4: 118,470,117 (GRCm39)		probably null	Het
Chd5	A	G	4: 152,432,441 (GRCm39)	E43G	possibly damaging	Het
Clk1	G	A	1: 58,453,558 (GRCm39)	H343Y	probably benign	Het
Cntn4	A	C	6: 106,527,447 (GRCm39)	K443T	probably damaging	Het
Csn2	G	A	5: 87,842,811 (GRCm39)	A72V	possibly damaging	Het
Ctdp1	T	A	18: 80,493,457 (GRCm39)	H346L	probably benign	Het
Ctif	A	T	18: 75,698,083 (GRCm39)	N192K	probably damaging	Het
Ddr2	G	A	1: 169,823,135 (GRCm39)	A383V	probably benign	Het
Derl3	C	T	10: 75,731,076 (GRCm39)		probably benign	Het
Dgkh	T	C	14: 78,821,919 (GRCm39)	I865V	probably damaging	Het
Dip2b	C	T	15: 100,069,532 (GRCm39)	A619V	probably damaging	Het
Elapor1	T	A	3: 108,376,851 (GRCm39)	H509L	probably benign	Het
Eml1	A	G	12: 108,496,585 (GRCm39)	T614A	possibly damaging	Het
Eogt	G	C	6: 97,092,970 (GRCm39)	Y402*	probably null	Het
Erbb4	A	G	1: 68,298,449 (GRCm39)	V647A	probably damaging	Het
Esm1	G	T	13: 113,350,036 (GRCm39)		probably null	Het
Fbxo31	A	G	8: 122,282,103 (GRCm39)		probably benign	Het
Fbxw5	T	A	2: 25,394,630 (GRCm39)	D201E	possibly damaging	Het
Fgfr1	G	A	8: 26,045,760 (GRCm39)	D123N	probably benign	Het
G530012D18Rik	A	C	1: 85,504,757 (GRCm39)		probably benign	Het
Gnat1	G	A	9: 107,556,662 (GRCm39)	T29I	probably damaging	Het
Gtf2ird2	A	T	5: 134,221,597 (GRCm39)	R67*	probably null	Het
Il22b	A	T	10: 118,130,142 (GRCm39)	D87E	probably benign	Het
Kcnq3	T	C	15: 65,867,457 (GRCm39)	T729A	probably benign	Het
Klrc2	A	T	6: 129,635,659 (GRCm39)	S156R	probably damaging	Het
Krt76	A	T	15: 101,795,784 (GRCm39)	L462Q	probably damaging	Het
Lama3	C	A	18: 12,589,907 (GRCm39)		probably benign	Het
Lin28a	A	T	4: 133,735,319 (GRCm39)	S56T	probably damaging	Het
Macf1	A	G	4: 123,276,323 (GRCm39)		probably benign	Het
Macrod2	C	T	2: 142,059,594 (GRCm39)		probably benign	Het
Mansc1	C	T	6: 134,594,424 (GRCm39)		probably benign	Het
Map1b	G	T	13: 99,566,274 (GRCm39)	S2149*	probably null	Het
Mgst1	A	T	6: 138,124,667 (GRCm39)	T34S	probably benign	Het
Mlf2	C	T	6: 124,911,354 (GRCm39)	T123M	probably damaging	Het
Mospd2	C	T	X: 163,731,253 (GRCm39)		probably benign	Het
Mrpl15	A	T	1: 4,847,834 (GRCm39)	V155E	probably damaging	Het
Mstn	A	T	1: 53,100,953 (GRCm39)	Y10F	possibly damaging	Het
Myo1g	C	T	11: 6,470,794 (GRCm39)	V21M	probably damaging	Het
Myom2	T	C	8: 15,149,326 (GRCm39)	I599T	probably benign	Het
Ndc80	A	T	17: 71,803,241 (GRCm39)	N633K	probably benign	Het
Nhs	C	A	X: 160,620,296 (GRCm39)	V1487L	possibly damaging	Het
Npc1	T	C	18: 12,352,382 (GRCm39)	T106A	probably benign	Het
Nup133	C	T	8: 124,675,747 (GRCm39)	V57M	probably benign	Het
Nup98	T	A	7: 101,809,923 (GRCm39)	T536S	probably damaging	Het
Oprm1	T	C	10: 6,782,652 (GRCm39)		probably benign	Het
Or5j1	T	C	2: 86,879,492 (GRCm39)	I29M	probably benign	Het
Or6c219	T	A	10: 129,780,980 (GRCm39)	H317L	probably benign	Het
Or8j3	A	G	2: 86,029,069 (GRCm39)	V9A	probably benign	Het
Ostf1	C	T	19: 18,581,571 (GRCm39)	V14I	unknown	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pdpr	T	C	8: 111,852,387 (GRCm39)		probably null	Het
Plce1	G	A	19: 38,705,135 (GRCm39)	V847M	probably damaging	Het
Pon3	A	G	6: 5,230,444 (GRCm39)	M288T	probably benign	Het
Psd2	A	T	18: 36,111,627 (GRCm39)	D84V	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ralgapa1	T	C	12: 55,712,448 (GRCm39)	K1808E	probably damaging	Het
Ramp3	T	C	11: 6,626,476 (GRCm39)		probably benign	Het
Rasgrf1	T	A	9: 89,833,062 (GRCm39)		probably benign	Het
Rictor	A	G	15: 6,803,467 (GRCm39)		probably benign	Het
Rptor	A	T	11: 119,775,780 (GRCm39)	I984F	probably benign	Het
Slc1a6	C	T	10: 78,631,842 (GRCm39)	P223S	probably benign	Het
Taar8b	A	C	10: 23,967,924 (GRCm39)	V90G	probably damaging	Het
Tbc1d21	A	G	9: 58,267,160 (GRCm39)	V327A	probably benign	Het
Tex21	T	C	12: 76,250,940 (GRCm39)	T499A	probably benign	Het
Tg	A	T	15: 66,550,638 (GRCm39)	D256V	probably damaging	Het
Tmf1	A	G	6: 97,153,453 (GRCm39)	S207P	probably benign	Het
Tpr	A	G	1: 150,269,158 (GRCm39)		probably benign	Het
Ufd1	A	G	16: 18,633,637 (GRCm39)	T21A	probably damaging	Het
Unc13a	T	C	8: 72,108,929 (GRCm39)	D115G	possibly damaging	Het
Usb1	T	A	8: 96,070,669 (GRCm39)	F198L	probably damaging	Het
Utrn	A	T	10: 12,573,902 (GRCm39)		probably benign	Het
Vars1	A	G	17: 35,233,276 (GRCm39)	N954S	probably damaging	Het
Wdr17	C	T	8: 55,146,131 (GRCm39)	A90T	possibly damaging	Het
Wdr33	C	T	18: 31,968,429 (GRCm39)		probably benign	Het
Zfp236	A	G	18: 82,658,369 (GRCm39)		probably benign	Het
Zfp445	A	T	9: 122,690,823 (GRCm39)	V124E	probably damaging	Het
Zfp616	A	T	11: 73,975,648 (GRCm39)	H639L	probably damaging	Het
Zfyve16	C	A	13: 92,657,985 (GRCm39)	S642I	probably damaging	Het
Zswim5	C	T	4: 116,842,943 (GRCm39)	T896I	possibly damaging	Het

Other mutations in Pcdhb14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02260:Pcdhb14	APN	18	37,583,086 (GRCm39)	missense	probably benign	0.28
IGL02314:Pcdhb14	APN	18	37,583,248 (GRCm39)	missense	probably benign	0.03
IGL02411:Pcdhb14	APN	18	37,582,823 (GRCm39)	missense	possibly damaging	0.78
IGL02553:Pcdhb14	APN	18	37,581,071 (GRCm39)	nonsense	probably null
IGL02797:Pcdhb14	APN	18	37,582,904 (GRCm39)	missense	probably damaging	1.00
IGL03184:Pcdhb14	APN	18	37,582,085 (GRCm39)	missense	probably benign	0.00
IGL03352:Pcdhb14	APN	18	37,582,057 (GRCm39)	missense	possibly damaging	0.67
R0166:Pcdhb14	UTSW	18	37,581,542 (GRCm39)	splice site	probably null
R0467:Pcdhb14	UTSW	18	37,582,277 (GRCm39)	missense	probably damaging	0.98
R0675:Pcdhb14	UTSW	18	37,581,392 (GRCm39)	missense	possibly damaging	0.91
R1119:Pcdhb14	UTSW	18	37,581,640 (GRCm39)	missense	probably damaging	0.99
R1121:Pcdhb14	UTSW	18	37,582,645 (GRCm39)	missense	probably damaging	1.00
R1338:Pcdhb14	UTSW	18	37,582,943 (GRCm39)	missense	probably benign	0.00
R1726:Pcdhb14	UTSW	18	37,582,647 (GRCm39)	nonsense	probably null
R1743:Pcdhb14	UTSW	18	37,581,231 (GRCm39)	missense	probably benign	0.01
R1779:Pcdhb14	UTSW	18	37,582,535 (GRCm39)	missense	probably damaging	1.00
R1795:Pcdhb14	UTSW	18	37,582,588 (GRCm39)	missense	probably benign
R2131:Pcdhb14	UTSW	18	37,580,923 (GRCm39)	missense	probably benign	0.00
R2133:Pcdhb14	UTSW	18	37,580,923 (GRCm39)	missense	probably benign	0.00
R3792:Pcdhb14	UTSW	18	37,582,715 (GRCm39)	missense	probably damaging	1.00
R3916:Pcdhb14	UTSW	18	37,581,598 (GRCm39)	missense	possibly damaging	0.48
R4197:Pcdhb14	UTSW	18	37,581,358 (GRCm39)	missense	probably benign	0.01
R4282:Pcdhb14	UTSW	18	37,583,195 (GRCm39)	missense	probably damaging	1.00
R4657:Pcdhb14	UTSW	18	37,581,900 (GRCm39)	missense	possibly damaging	0.92
R4801:Pcdhb14	UTSW	18	37,581,331 (GRCm39)	missense	probably benign	0.28
R4802:Pcdhb14	UTSW	18	37,581,331 (GRCm39)	missense	probably benign	0.28
R5022:Pcdhb14	UTSW	18	37,583,223 (GRCm39)	missense	probably benign	0.03
R5034:Pcdhb14	UTSW	18	37,581,859 (GRCm39)	missense	probably damaging	0.98
R5664:Pcdhb14	UTSW	18	37,582,049 (GRCm39)	missense	possibly damaging	0.54
R5840:Pcdhb14	UTSW	18	37,581,803 (GRCm39)	missense	probably benign	0.23
R5966:Pcdhb14	UTSW	18	37,581,295 (GRCm39)	missense	probably benign
R6090:Pcdhb14	UTSW	18	37,581,659 (GRCm39)	missense	probably benign	0.45
R6148:Pcdhb14	UTSW	18	37,582,283 (GRCm39)	missense	probably damaging	1.00
R6187:Pcdhb14	UTSW	18	37,581,497 (GRCm39)	missense	probably damaging	1.00
R6972:Pcdhb14	UTSW	18	37,582,745 (GRCm39)	missense	probably damaging	1.00
R7394:Pcdhb14	UTSW	18	37,581,961 (GRCm39)	missense	probably benign	0.29
R7510:Pcdhb14	UTSW	18	37,582,645 (GRCm39)	missense	probably damaging	0.97
R7724:Pcdhb14	UTSW	18	37,581,937 (GRCm39)	missense	possibly damaging	0.62
R7757:Pcdhb14	UTSW	18	37,582,887 (GRCm39)	missense	possibly damaging	0.95
R8305:Pcdhb14	UTSW	18	37,583,075 (GRCm39)	missense	possibly damaging	0.48
R8338:Pcdhb14	UTSW	18	37,582,175 (GRCm39)	missense	probably damaging	1.00
R8497:Pcdhb14	UTSW	18	37,582,349 (GRCm39)	missense	probably benign	0.02
R8700:Pcdhb14	UTSW	18	37,582,652 (GRCm39)	missense	probably damaging	1.00
R8792:Pcdhb14	UTSW	18	37,582,541 (GRCm39)	missense	probably damaging	0.99
R8891:Pcdhb14	UTSW	18	37,582,692 (GRCm39)	missense	probably damaging	1.00
R8992:Pcdhb14	UTSW	18	37,582,231 (GRCm39)	missense	probably damaging	1.00
R9043:Pcdhb14	UTSW	18	37,581,851 (GRCm39)	missense	probably damaging	0.98
R9069:Pcdhb14	UTSW	18	37,583,157 (GRCm39)	nonsense	probably null
R9127:Pcdhb14	UTSW	18	37,582,091 (GRCm39)	missense	probably damaging	0.99
R9345:Pcdhb14	UTSW	18	37,581,281 (GRCm39)	missense	probably damaging	0.98
R9470:Pcdhb14	UTSW	18	37,581,076 (GRCm39)	missense	probably benign
R9626:Pcdhb14	UTSW	18	37,581,787 (GRCm39)	missense	probably damaging	1.00
R9758:Pcdhb14	UTSW	18	37,582,040 (GRCm39)	missense	probably benign	0.08
X0065:Pcdhb14	UTSW	18	37,583,037 (GRCm39)	nonsense	probably null
X0065:Pcdhb14	UTSW	18	37,582,474 (GRCm39)	missense	possibly damaging	0.95
Z1177:Pcdhb14	UTSW	18	37,582,907 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACAATGCCCCTGAATTTGCCC -3'
(R):5'- TCCAGTGCTCTTTCAGTTACCAACG -3'

Sequencing Primer
(F):5'- CTCTATGAGGTGCAAGTTCAAG -3'
(R):5'- CTCTTTCAGTTACCAACGTGTAGAAG -3'

Posted On

2013-09-03