Mutagenetix > Incidental Mutation

Incidental Mutation 'R1338:Pcdhb14'

156952

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb14

Ensembl Gene

ENSMUSG00000044043

Gene Name

protocadherin beta 14

Synonyms

Pcdhb17, 2210006M07Rik, PcdhbN

MMRRC Submission

039403-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R1338 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37580710-37584147 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37582943 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 683 (E683V)

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 benign
Transcript: ENSMUST00000052387
AA Change: E683V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000054111
Gene: ENSMUSG00000044043
AA Change: E683V

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

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.7%
20x: 88.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap12	G	T	10: 4,263,773 (GRCm39)	V61F	possibly damaging	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Ap4e1	T	A	2: 126,888,829 (GRCm39)	D459E	probably damaging	Het
Bltp1	C	T	3: 37,106,684 (GRCm39)	H5005Y	unknown	Het
Brdt	C	A	5: 107,498,054 (GRCm39)	P243Q	probably benign	Het
C5ar1	A	C	7: 15,982,260 (GRCm39)	F253L	probably damaging	Het
Cep104	T	G	4: 154,078,965 (GRCm39)	V323G	probably benign	Het
Col11a1	A	T	3: 114,010,644 (GRCm39)		probably benign	Het
Fat3	T	A	9: 15,836,387 (GRCm39)	Y4039F	probably benign	Het
Lmcd1	A	C	6: 112,282,089 (GRCm39)	H41P	probably damaging	Het
Or9s18	T	C	13: 65,300,197 (GRCm39)	L53P	probably damaging	Het
P2ry13	T	C	3: 59,117,710 (GRCm39)	T23A	probably benign	Het
Pck1	G	A	2: 173,000,203 (GRCm39)	E545K	probably benign	Het
Pkhd1l1	T	C	15: 44,390,120 (GRCm39)	V1412A	probably damaging	Het
Rnf139	T	C	15: 58,771,064 (GRCm39)	V363A	probably damaging	Het
Serpinh1	A	G	7: 98,998,118 (GRCm39)	S171P	probably damaging	Het
Skint6	T	C	4: 112,870,158 (GRCm39)	K600R	possibly damaging	Het
Slc7a1	C	T	5: 148,282,746 (GRCm39)	E34K	probably damaging	Het
Spata31d1b	AGGG	AGG	13: 59,865,975 (GRCm39)		probably null	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Ttc6	A	T	12: 57,663,155 (GRCm39)	N317I	probably benign	Het
Zan	A	T	5: 137,391,913 (GRCm39)	C4627*	probably null	Het
Zfhx4	T	C	3: 5,462,021 (GRCm39)	V1232A	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
R0730:Pcdhb14	UTSW	18	37,581,921 (GRCm39)	missense	probably damaging	1.00
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
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'- TTCCAACTGCTCAAGACCACGG -3'
(R):5'- GCAGACCTCTTTCCACGAGTGAATG -3'

Sequencing Primer
(F):5'- TCAAGACCACGGAGCCTG -3'
(R):5'- ACTGGTAGCTCTGGGACAG -3'

Posted On

2014-02-11