Mutagenetix > Incidental Mutation

Incidental Mutation 'R8992:Pcdhb14'

684510

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb14

Ensembl Gene

ENSMUSG00000044043

Gene Name

protocadherin beta 14

Synonyms

PcdhbN, 2210006M07Rik, Pcdhb17

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R8992 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37447656-37456350 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 37449178 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 446 (D446Y)

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: D446Y

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

SMART Domains

Protein: ENSMUSP00000054111
Gene: ENSMUSG00000044043
AA Change: D446Y

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd14b	A	G	9: 106,451,618	D146G	probably benign	Het
Abhd6	T	A	14: 8,028,282	D4E	probably benign	Het
Atpif1	T	C	4: 132,533,374	D34G	probably benign	Het
Bcr	T	C	10: 75,131,572	F546S	probably damaging	Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Ccdc141	A	T	2: 77,014,395	W1443R	probably damaging	Het
Chd7	A	G	4: 8,839,589	D1375G	probably damaging	Het
Chil1	A	T	1: 134,187,924	Q223H	probably benign	Het
Clcn2	A	T	16: 20,712,330	F260I	probably damaging	Het
Cpq	A	T	15: 33,594,235	D464V	probably benign	Het
Crygb	T	C	1: 65,082,141	D9G	probably damaging	Het
Cyp2b10	A	G	7: 25,925,390	K438E	unknown	Het
Cyp46a1	A	T	12: 108,358,107	D381V	possibly damaging	Het
Dhx40	A	C	11: 86,776,756		probably benign	Het
Dnase2b	G	T	3: 146,586,962	P152Q	probably damaging	Het
Duox1	A	T	2: 122,344,705	H1328L	probably damaging	Het
Ephb6	C	T	6: 41,613,359	A15V	probably benign	Het
Fam168b	A	G	1: 34,819,781	F102L	probably benign	Het
Fam3b	T	A	16: 97,476,394	D128V	probably damaging	Het
Galnt11	T	G	5: 25,264,985	H527Q	possibly damaging	Het
Gbp2b	A	T	3: 142,610,969	R460S	probably benign	Het
Gm7534	G	A	4: 134,202,667	T109I	probably damaging	Het
Hdhd2	A	C	18: 76,970,670	S246R	possibly damaging	Het
Heatr1	T	C	13: 12,401,114	M189T	probably damaging	Het
Ino80	A	G	2: 119,379,578	S1411P	possibly damaging	Het
Jakmip1	A	G	5: 37,117,538	T467A	probably benign	Het
Kcnh2	A	G	5: 24,331,870	S239P	probably benign	Het
Lct	T	A	1: 128,300,562	T1065S	probably damaging	Het
Lrrc66	T	C	5: 73,629,884	D41G	probably benign	Het
Mfsd2b	A	T	12: 4,871,490	D26E	probably benign	Het
Myh1	A	T	11: 67,205,781	M333L	probably benign	Het
Neurl4	T	C	11: 69,908,132	V855A	possibly damaging	Het
Nfkb2	T	A	19: 46,306,865	V80D	probably damaging	Het
Nop9	T	C	14: 55,745,981	S70P	possibly damaging	Het
Olfr325	A	G	11: 58,580,912	S23G	probably benign	Het
Pclo	C	T	5: 14,669,311	A1154V	unknown	Het
Pdgfa	G	T	5: 138,986,222	Q141K	probably damaging	Het
Plekhh1	G	T	12: 79,075,533	L1133F	probably damaging	Het
Pole	A	T	5: 110,323,622	N1411Y	possibly damaging	Het
Primpol	A	G	8: 46,581,562		probably benign	Het
Psmc5	T	G	11: 106,261,961	V203G	probably damaging	Het
Ptgdr	C	T	14: 44,858,724	C177Y	probably damaging	Het
Ptgir	A	T	7: 16,907,295	I171F	probably damaging	Het
Ptprg	T	A	14: 12,154,170	H630Q	probably benign	Het
Ptrh2	A	G	11: 86,690,081	T175A	possibly damaging	Het
Ralgapb	A	G	2: 158,454,277	T857A	probably damaging	Het
Rnf24	A	G	2: 131,313,277	F10S	possibly damaging	Het
Rreb1	C	A	13: 37,930,376	S570R	probably benign	Het
Rttn	A	G	18: 88,977,708	N205S	probably benign	Het
Rusc1	T	C	3: 89,092,058	E139G	probably benign	Het
Scn2a	A	G	2: 65,763,898	N1697S	probably damaging	Het
Serpinb3a	T	A	1: 107,047,177	M209L	probably damaging	Het
Shank3	A	G	15: 89,548,685	D1211G	possibly damaging	Het
Slc22a12	C	A	19: 6,542,484	R90L	possibly damaging	Het
Slc6a13	G	A	6: 121,336,942	W548*	probably null	Het
Srfbp1	T	A	18: 52,476,320	L59*	probably null	Het
Ss18	A	T	18: 14,670,323	S73T	probably damaging	Het
Syne1	T	C	10: 5,185,508	K189R	probably benign	Het
Szt2	G	T	4: 118,382,788		probably benign	Het
Tbx1	T	A	16: 18,584,187	H183L	probably damaging	Het
Thop1	A	G	10: 81,080,138	E385G	possibly damaging	Het
Tmem168	C	A	6: 13,602,850	M172I	possibly damaging	Het
Tmem67	A	G	4: 12,058,559	Y513H	probably damaging	Het
Top1	A	G	2: 160,721,001	D709G	probably damaging	Het
Tprgl	A	C	4: 154,158,433	S247A	probably damaging	Het
Trim46	A	G	3: 89,236,385	S602P	probably damaging	Het
Ttc30a1	A	T	2: 75,979,907	C611S	probably benign	Het
Ttc7b	T	C	12: 100,500,174	K60E	probably benign	Het
Ttn	G	A	2: 76,884,471	S8053F	unknown	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Usp24	T	A	4: 106,377,565	H956Q	probably benign	Het
Vcp	T	C	4: 42,980,828	T761A	probably benign	Het
Xpc	G	A	6: 91,500,974	T309I	possibly damaging	Het
Zfp560	C	T	9: 20,349,599	M129I	probably benign	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
R3916:Pcdhb14	UTSW	18	37448545	missense	possibly damaging	0.48
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
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'- AAATGGTGTGCTCCGTCCAAG -3'
(R):5'- AACAGCTGCCCATTGTCTG -3'

Sequencing Primer
(F):5'- TGCTCCGTCCAAGACCGTC -3'
(R):5'- CCCATTGTCTGCGTTGATGGAG -3'

Posted On

2021-10-11