Mutagenetix > Incidental Mutation

Incidental Mutation 'R7757:Pcdhb14'

597647

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb14

Ensembl Gene

ENSMUSG00000044043

Gene Name

protocadherin beta 14

Synonyms

PcdhbN, 2210006M07Rik, Pcdhb17

MMRRC Submission

045813-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R7757 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37447656-37456350 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37449834 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 664 (D664E)

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

possibly damaging
Transcript: ENSMUST00000052387
AA Change: D664E

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000054111
Gene: ENSMUSG00000044043
AA Change: D664E

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

0.1795

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (70/73)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	T	15: 8,252,227	E2850V	unknown	Het
2700049A03Rik	G	A	12: 71,189,413	M1179I	probably benign	Het
6430550D23Rik	T	C	2: 156,003,431	T18A	possibly damaging	Het
Acox2	T	C	14: 8,230,166	N659S	probably damaging	Het
Agk	T	C	6: 40,376,278	V192A	possibly damaging	Het
Ap3b1	T	A	13: 94,528,158		probably null	Het
Bche	T	A	3: 73,701,121	D324V	probably damaging	Het
Bsn	A	G	9: 108,114,740	I1271T	possibly damaging	Het
Capn12	T	C	7: 28,882,821	L120P	probably damaging	Het
Cep290	T	A	10: 100,563,434	S2273T	probably benign	Het
Ckap4	T	C	10: 84,528,467	E244G	probably damaging	Het
Clcn7	T	C	17: 25,156,822	Y545H	probably damaging	Het
Cmya5	T	A	13: 93,098,272	T103S	possibly damaging	Het
Cpne9	G	A	6: 113,284,445	V121M	possibly damaging	Het
Csmd2	T	A	4: 128,483,456	I2043N		Het
Disc1	A	G	8: 125,087,504	T36A	probably benign	Het
Disp2	T	C	2: 118,790,910	Y708H	probably damaging	Het
Dnah3	A	G	7: 120,071,570	V635A	probably benign	Het
Dnah3	A	T	7: 119,971,215		probably null	Het
Dync1li1	A	G	9: 114,709,277	H234R	possibly damaging	Het
Egfr	T	C	11: 16,889,966	V660A	possibly damaging	Het
Epb42	T	C	2: 121,027,719	R253G	possibly damaging	Het
Fat2	T	A	11: 55,311,421	T276S	probably benign	Het
Fcho2	A	G	13: 98,764,503		probably null	Het
Ginm1	A	T	10: 7,779,355	I41N	probably damaging	Het
Gm4744	A	G	6: 40,950,433		probably benign	Het
Gm49368	C	T	7: 128,112,226	R701C	probably damaging	Het
Gpr37	T	A	6: 25,688,208	I297F	probably benign	Het
Gprc5a	T	A	6: 135,079,344	I263N	possibly damaging	Het
Gys2	A	T	6: 142,454,451	S345T	probably benign	Het
Hk2	T	C	6: 82,742,915	M255V	possibly damaging	Het
Ibtk	A	C	9: 85,697,237	S1202A	possibly damaging	Het
Il23r	T	G	6: 67,423,981	D455A	probably benign	Het
Irs2	T	A	8: 11,006,522	K637*	probably null	Het
Jak2	T	C	19: 29,283,546	V314A	probably benign	Het
Mei1	C	T	15: 82,082,623		probably benign	Het
Mill1	T	C	7: 18,262,466	M69T	probably benign	Het
Mms22l	T	C	4: 24,598,884		probably null	Het
Mup8	C	A	4: 60,220,332	Q133H	probably benign	Het
Mup8	T	A	4: 60,220,333	Q133L	probably benign	Het
Mycbp2	A	T	14: 103,191,619	Y2374N	probably damaging	Het
Nbeal1	A	T	1: 60,257,450	K1166N	probably damaging	Het
Nlrc4	T	A	17: 74,448,196	R8S	probably benign	Het
Nrcam	C	T	12: 44,549,898	Q25*	probably null	Het
Nudt16	A	C	9: 105,131,561	M47R	probably damaging	Het
Nup62	T	C	7: 44,828,995	S145P	probably benign	Het
Olfr1222	T	C	2: 89,124,989	I247M	possibly damaging	Het
Olfr959	A	G	9: 39,572,465	W265R	probably benign	Het
Osbpl1a	A	T	18: 12,933,600	V34D	probably benign	Het
Otogl	T	A	10: 107,876,921	N521Y	probably damaging	Het
Pex5l	T	C	3: 33,082,151		probably benign	Het
Pkhd1	A	G	1: 20,562,415	L592P	probably damaging	Het
Plxdc2	A	G	2: 16,729,376	H480R	probably benign	Het
Rnf216	T	A	5: 143,080,236	K532N	probably damaging	Het
Schip1	C	A	3: 68,617,695	Q358K	probably damaging	Het
Sdc2	A	T	15: 33,028,087	E117V	possibly damaging	Het
Sept11	A	T	5: 93,171,464		probably null	Het
Shprh	A	T	10: 11,162,180	E420V	probably benign	Het
Ska1	T	A	18: 74,196,973	H232L	probably benign	Het
Slc36a4	A	G	9: 15,719,660	N25S	possibly damaging	Het
Slitrk3	G	A	3: 73,050,839	T200M	probably damaging	Het
Smad2	C	T	18: 76,288,013	H138Y	probably benign	Het
Snx21	T	C	2: 164,786,165	S34P	probably damaging	Het
Sos2	A	G	12: 69,648,585	V126A	probably damaging	Het
Srcap	C	T	7: 127,530,794	T596I	probably damaging	Het
Stk31	T	G	6: 49,406,943		probably null	Het
Stox1	T	C	10: 62,663,964	D939G	probably damaging	Het
Syne2	G	T	12: 76,061,779	C979F	possibly damaging	Het
Tanc2	C	A	11: 105,776,858	N88K	possibly damaging	Het
Tll2	A	T	19: 41,096,008	V677E	probably damaging	Het
Ttn	T	C	2: 76,918,490	T4072A	probably benign	Het
Unc13b	CAGAGC	CAGAGCGAGAGC	4: 43,177,341		probably benign	Het
Unc13b	AGAGCC	AGAGCCCGAGCC	4: 43,177,330		probably benign	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312		probably benign	Het
Vmn2r43	A	T	7: 8,255,254	F320Y	possibly damaging	Het
Zscan4f	G	T	7: 11,401,278	G204*	probably null	Het

Other mutations in Pcdhb14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02260:Pcdhb14	APN	18	37,450,033 (GRCm38)	missense	probably benign	0.28
IGL02314:Pcdhb14	APN	18	37,450,195 (GRCm38)	missense	probably benign	0.03
IGL02411:Pcdhb14	APN	18	37,449,770 (GRCm38)	missense	possibly damaging	0.78
IGL02553:Pcdhb14	APN	18	37,448,018 (GRCm38)	nonsense	probably null
IGL02797:Pcdhb14	APN	18	37,449,851 (GRCm38)	missense	probably damaging	1.00
IGL03184:Pcdhb14	APN	18	37,449,032 (GRCm38)	missense	probably benign	0.00
IGL03352:Pcdhb14	APN	18	37,449,004 (GRCm38)	missense	possibly damaging	0.67
R0166:Pcdhb14	UTSW	18	37,448,489 (GRCm38)	splice site	probably null
R0467:Pcdhb14	UTSW	18	37,449,224 (GRCm38)	missense	probably damaging	0.98
R0675:Pcdhb14	UTSW	18	37,448,339 (GRCm38)	missense	possibly damaging	0.91
R0730:Pcdhb14	UTSW	18	37,448,868 (GRCm38)	missense	probably damaging	1.00
R1119:Pcdhb14	UTSW	18	37,448,587 (GRCm38)	missense	probably damaging	0.99
R1121:Pcdhb14	UTSW	18	37,449,592 (GRCm38)	missense	probably damaging	1.00
R1338:Pcdhb14	UTSW	18	37,449,890 (GRCm38)	missense	probably benign	0.00
R1726:Pcdhb14	UTSW	18	37,449,594 (GRCm38)	nonsense	probably null
R1743:Pcdhb14	UTSW	18	37,448,178 (GRCm38)	missense	probably benign	0.01
R1779:Pcdhb14	UTSW	18	37,449,482 (GRCm38)	missense	probably damaging	1.00
R1795:Pcdhb14	UTSW	18	37,449,535 (GRCm38)	missense	probably benign
R2131:Pcdhb14	UTSW	18	37,447,870 (GRCm38)	missense	probably benign	0.00
R2133:Pcdhb14	UTSW	18	37,447,870 (GRCm38)	missense	probably benign	0.00
R3792:Pcdhb14	UTSW	18	37,449,662 (GRCm38)	missense	probably damaging	1.00
R3916:Pcdhb14	UTSW	18	37,448,545 (GRCm38)	missense	possibly damaging	0.48
R4197:Pcdhb14	UTSW	18	37,448,305 (GRCm38)	missense	probably benign	0.01
R4282:Pcdhb14	UTSW	18	37,450,142 (GRCm38)	missense	probably damaging	1.00
R4657:Pcdhb14	UTSW	18	37,448,847 (GRCm38)	missense	possibly damaging	0.92
R4801:Pcdhb14	UTSW	18	37,448,278 (GRCm38)	missense	probably benign	0.28
R4802:Pcdhb14	UTSW	18	37,448,278 (GRCm38)	missense	probably benign	0.28
R5022:Pcdhb14	UTSW	18	37,450,170 (GRCm38)	missense	probably benign	0.03
R5034:Pcdhb14	UTSW	18	37,448,806 (GRCm38)	missense	probably damaging	0.98
R5664:Pcdhb14	UTSW	18	37,448,996 (GRCm38)	missense	possibly damaging	0.54
R5840:Pcdhb14	UTSW	18	37,448,750 (GRCm38)	missense	probably benign	0.23
R5966:Pcdhb14	UTSW	18	37,448,242 (GRCm38)	missense	probably benign
R6090:Pcdhb14	UTSW	18	37,448,606 (GRCm38)	missense	probably benign	0.45
R6148:Pcdhb14	UTSW	18	37,449,230 (GRCm38)	missense	probably damaging	1.00
R6187:Pcdhb14	UTSW	18	37,448,444 (GRCm38)	missense	probably damaging	1.00
R6972:Pcdhb14	UTSW	18	37,449,692 (GRCm38)	missense	probably damaging	1.00
R7394:Pcdhb14	UTSW	18	37,448,908 (GRCm38)	missense	probably benign	0.29
R7510:Pcdhb14	UTSW	18	37,449,592 (GRCm38)	missense	probably damaging	0.97
R7724:Pcdhb14	UTSW	18	37,448,884 (GRCm38)	missense	possibly damaging	0.62
R8305:Pcdhb14	UTSW	18	37,450,022 (GRCm38)	missense	possibly damaging	0.48
R8338:Pcdhb14	UTSW	18	37,449,122 (GRCm38)	missense	probably damaging	1.00
R8497:Pcdhb14	UTSW	18	37,449,296 (GRCm38)	missense	probably benign	0.02
R8700:Pcdhb14	UTSW	18	37,449,599 (GRCm38)	missense	probably damaging	1.00
R8792:Pcdhb14	UTSW	18	37,449,488 (GRCm38)	missense	probably damaging	0.99
R8891:Pcdhb14	UTSW	18	37,449,639 (GRCm38)	missense	probably damaging	1.00
R8992:Pcdhb14	UTSW	18	37,449,178 (GRCm38)	missense	probably damaging	1.00
R9043:Pcdhb14	UTSW	18	37,448,798 (GRCm38)	missense	probably damaging	0.98
R9069:Pcdhb14	UTSW	18	37,450,104 (GRCm38)	nonsense	probably null
R9127:Pcdhb14	UTSW	18	37,449,038 (GRCm38)	missense	probably damaging	0.99
R9345:Pcdhb14	UTSW	18	37,448,228 (GRCm38)	missense	probably damaging	0.98
R9470:Pcdhb14	UTSW	18	37,448,023 (GRCm38)	missense	probably benign
R9626:Pcdhb14	UTSW	18	37,448,734 (GRCm38)	missense	probably damaging	1.00
R9758:Pcdhb14	UTSW	18	37,448,987 (GRCm38)	missense	probably benign	0.08
X0065:Pcdhb14	UTSW	18	37,449,984 (GRCm38)	nonsense	probably null
X0065:Pcdhb14	UTSW	18	37,449,421 (GRCm38)	missense	possibly damaging	0.95
Z1177:Pcdhb14	UTSW	18	37,449,854 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAATGCCTGGCTGTCATTCC -3'
(R):5'- AAAGTGTCCCTCAGGCACAG -3'

Sequencing Primer
(F):5'- GGCTGTCATTCCAACTGCTCAAG -3'
(R):5'- GAGCAGCCACCCAGAGAAGTC -3'

Posted On

2019-11-26