Mutagenetix > Incidental Mutation

Incidental Mutation 'R3916:Pcdhb14'

309782

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb14

Ensembl Gene

ENSMUSG00000044043

Gene Name

protocadherin beta 14

Synonyms

PcdhbN, 2210006M07Rik, Pcdhb17

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R3916 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37447656-37456350 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37448545 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 235 (I235F)

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: I235F

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000054111
Gene: ENSMUSG00000044043
AA Change: I235F

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	G	2: 68,731,985	F319V	possibly damaging	Het
Acad12	A	G	5: 121,599,214	V498A	probably damaging	Het
Adam19	A	G	11: 46,060,935	E37G	probably benign	Het
Anks3	A	G	16: 4,947,279	Y423H	probably damaging	Het
Arfgef1	A	T	1: 10,189,443	V600D	probably benign	Het
Arhgef18	T	C	8: 3,454,197	F939L	probably benign	Het
Arhgef2	A	G	3: 88,633,033	N127S	probably damaging	Het
Arid1b	A	G	17: 5,342,653	S2100G	probably benign	Het
Atp1b2	A	G	11: 69,603,075	V93A	probably damaging	Het
Atrnl1	T	C	19: 57,935,652	V1283A	possibly damaging	Het
Bpifb5	A	C	2: 154,228,181	K184Q	probably benign	Het
Cadps	C	T	14: 12,457,702	A1060T	probably benign	Het
Cant1	A	G	11: 118,408,746	V259A	probably damaging	Het
Ccdc89	A	G	7: 90,426,825	D81G	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cntnap4	C	G	8: 112,875,533	P1190A	probably benign	Het
Colgalt2	T	A	1: 152,508,611	Y567*	probably null	Het
Cyp4f18	A	T	8: 71,996,037	F256Y	probably benign	Het
Ddx41	G	A	13: 55,534,480	R205W	possibly damaging	Het
Dopey1	G	A	9: 86,521,133	R1462H	probably damaging	Het
Dync1i2	A	G	2: 71,249,372	T377A	probably damaging	Het
F2	G	A	2: 91,625,488	T600M	probably damaging	Het
Fam91a1	C	T	15: 58,430,734	H308Y	probably damaging	Het
Fkbp2	C	A	19: 6,978,557		probably null	Het
Gabarapl2	T	A	8: 111,952,396	F115L	probably benign	Het
Heatr3	T	G	8: 88,150,371		probably null	Het
Ifi204	T	G	1: 173,755,775	K292N	possibly damaging	Het
Itpkc	A	T	7: 27,228,303	I62N	probably benign	Het
Kcnab1	G	A	3: 65,304,164		probably null	Het
Krt88	G	A	15: 101,452,928		probably null	Het
Larp4	C	T	15: 99,990,403	T107I	probably benign	Het
Lmo7	T	C	14: 101,929,342		probably benign	Het
Lrrc37a	T	C	11: 103,455,518	Y3174C	possibly damaging	Het
Lyzl4	T	A	9: 121,583,035	D105V	probably damaging	Het
Mst1	A	G	9: 108,084,295	I575V	probably benign	Het
Myh7	C	A	14: 54,974,046	E1555D	probably damaging	Het
Nwd1	T	A	8: 72,667,811	C608*	probably null	Het
Obox3	C	A	7: 15,627,226	C38F	probably benign	Het
P4ha2	A	G	11: 54,126,248	D441G	probably benign	Het
Rasgrf2	A	G	13: 92,030,788	V259A	probably damaging	Het
Scn1a	T	C	2: 66,277,613	T1590A	probably damaging	Het
Sdk1	T	A	5: 142,051,244	D817E	probably damaging	Het
Sema3b	A	G	9: 107,600,458	F482S	probably damaging	Het
Slc35a5	G	C	16: 45,158,158		probably benign	Het
Slc6a3	A	G	13: 73,562,308	I346V	probably benign	Het
Slu7	G	T	11: 43,440,684		probably null	Het
Spns1	A	T	7: 126,371,539		probably null	Het
Supv3l1	T	C	10: 62,449,420	D89G	possibly damaging	Het
Taf1c	G	A	8: 119,600,505	R412W	probably damaging	Het
Tctn3	T	A	19: 40,607,649	T305S	possibly damaging	Het
Tekt1	A	G	11: 72,345,748	I296T	possibly damaging	Het
Tet2	T	C	3: 133,486,055	K873E	possibly damaging	Het
Thada	G	A	17: 84,441,782	A587V	possibly damaging	Het
Tmprss15	T	A	16: 78,985,996	N712Y	probably damaging	Het
Tnks	A	G	8: 34,853,361	S719P	probably damaging	Het
Tnrc6a	A	C	7: 123,181,384	Q1332H	probably damaging	Het
Trpv3	A	G	11: 73,283,734	D309G	possibly damaging	Het
Tti2	A	G	8: 31,153,519	K221E	possibly damaging	Het
Uba5	A	T	9: 104,054,190	C227S	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Unc80	T	C	1: 66,677,495	C2925R	probably benign	Het
Vmn2r83	G	A	10: 79,478,910	G331R	probably benign	Het
Xirp2	G	T	2: 67,511,422	V1336F	probably benign	Het
Zbed5	T	C	5: 129,902,277	Y356H	possibly damaging	Het

Other mutations in Pcdhb14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02260:Pcdhb14	APN	18	37450033	missense	probably benign	0.28
IGL02314:Pcdhb14	APN	18	37450195	missense	probably benign	0.03
IGL02411:Pcdhb14	APN	18	37449770	missense	possibly damaging	0.78
IGL02553:Pcdhb14	APN	18	37448018	nonsense	probably null
IGL02797:Pcdhb14	APN	18	37449851	missense	probably damaging	1.00
IGL03184:Pcdhb14	APN	18	37449032	missense	probably benign	0.00
IGL03352:Pcdhb14	APN	18	37449004	missense	possibly damaging	0.67
R0166:Pcdhb14	UTSW	18	37448489	splice site	probably null
R0467:Pcdhb14	UTSW	18	37449224	missense	probably damaging	0.98
R0675:Pcdhb14	UTSW	18	37448339	missense	possibly damaging	0.91
R0730:Pcdhb14	UTSW	18	37448868	missense	probably damaging	1.00
R1119:Pcdhb14	UTSW	18	37448587	missense	probably damaging	0.99
R1121:Pcdhb14	UTSW	18	37449592	missense	probably damaging	1.00
R1338:Pcdhb14	UTSW	18	37449890	missense	probably benign	0.00
R1726:Pcdhb14	UTSW	18	37449594	nonsense	probably null
R1743:Pcdhb14	UTSW	18	37448178	missense	probably benign	0.01
R1779:Pcdhb14	UTSW	18	37449482	missense	probably damaging	1.00
R1795:Pcdhb14	UTSW	18	37449535	missense	probably benign
R2131:Pcdhb14	UTSW	18	37447870	missense	probably benign	0.00
R2133:Pcdhb14	UTSW	18	37447870	missense	probably benign	0.00
R3792:Pcdhb14	UTSW	18	37449662	missense	probably damaging	1.00
R4197:Pcdhb14	UTSW	18	37448305	missense	probably benign	0.01
R4282:Pcdhb14	UTSW	18	37450142	missense	probably damaging	1.00
R4657:Pcdhb14	UTSW	18	37448847	missense	possibly damaging	0.92
R4801:Pcdhb14	UTSW	18	37448278	missense	probably benign	0.28
R4802:Pcdhb14	UTSW	18	37448278	missense	probably benign	0.28
R5022:Pcdhb14	UTSW	18	37450170	missense	probably benign	0.03
R5034:Pcdhb14	UTSW	18	37448806	missense	probably damaging	0.98
R5664:Pcdhb14	UTSW	18	37448996	missense	possibly damaging	0.54
R5840:Pcdhb14	UTSW	18	37448750	missense	probably benign	0.23
R5966:Pcdhb14	UTSW	18	37448242	missense	probably benign
R6090:Pcdhb14	UTSW	18	37448606	missense	probably benign	0.45
R6148:Pcdhb14	UTSW	18	37449230	missense	probably damaging	1.00
R6187:Pcdhb14	UTSW	18	37448444	missense	probably damaging	1.00
R6972:Pcdhb14	UTSW	18	37449692	missense	probably damaging	1.00
R7394:Pcdhb14	UTSW	18	37448908	missense	probably benign	0.29
R7510:Pcdhb14	UTSW	18	37449592	missense	probably damaging	0.97
R7724:Pcdhb14	UTSW	18	37448884	missense	possibly damaging	0.62
R7757:Pcdhb14	UTSW	18	37449834	missense	possibly damaging	0.95
R8305:Pcdhb14	UTSW	18	37450022	missense	possibly damaging	0.48
R8338:Pcdhb14	UTSW	18	37449122	missense	probably damaging	1.00
R8497:Pcdhb14	UTSW	18	37449296	missense	probably benign	0.02
R8700:Pcdhb14	UTSW	18	37449599	missense	probably damaging	1.00
R8792:Pcdhb14	UTSW	18	37449488	missense	probably damaging	0.99
R8891:Pcdhb14	UTSW	18	37449639	missense	probably damaging	1.00
R8992:Pcdhb14	UTSW	18	37449178	missense	probably damaging	1.00
R9043:Pcdhb14	UTSW	18	37448798	missense	probably damaging	0.98
R9069:Pcdhb14	UTSW	18	37450104	nonsense	probably null
R9127:Pcdhb14	UTSW	18	37449038	missense	probably damaging	0.99
R9345:Pcdhb14	UTSW	18	37448228	missense	probably damaging	0.98
R9470:Pcdhb14	UTSW	18	37448023	missense	probably benign
R9626:Pcdhb14	UTSW	18	37448734	missense	probably damaging	1.00
R9758:Pcdhb14	UTSW	18	37448987	missense	probably benign	0.08
X0065:Pcdhb14	UTSW	18	37449421	missense	possibly damaging	0.95
X0065:Pcdhb14	UTSW	18	37449984	nonsense	probably null
Z1177:Pcdhb14	UTSW	18	37449854	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGGATGTGGGGAGCAACAC -3'
(R):5'- CGGTGTCTGTATTTACTTCAAAAGC -3'

Sequencing Primer
(F):5'- TGTGGGGAGCAACACGGTTC -3'
(R):5'- ACTTCAAAAGCCTGTAGAACTTG -3'

Posted On

2015-04-17