Mutagenetix > Incidental Mutation

Incidental Mutation 'R8305:Pcdhb14'

641035

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb14

Ensembl Gene

ENSMUSG00000044043

Gene Name

protocadherin beta 14

Synonyms

PcdhbN, 2210006M07Rik, Pcdhb17

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R8305 (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 37450022 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 727 (V727E)

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: V727E

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000054111
Gene: ENSMUSG00000044043
AA Change: V727E

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: 99.6%
20x: 98.9%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	T	14: 63,971,395	E243K	possibly damaging	Het
Accsl	A	T	2: 93,866,078	H58Q	probably benign	Het
Actl7a	T	A	4: 56,743,744	F90L	probably benign	Het
Adam5	G	A	8: 24,810,703	A270V	possibly damaging	Het
Angptl3	A	G	4: 99,031,311	T103A	probably damaging	Het
Ankhd1	T	C	18: 36,647,166	L1757P	possibly damaging	Het
Apoa4	T	A	9: 46,241,155	M1K	probably null	Het
Arih1	T	A	9: 59,396,487	Q445L	probably benign	Het
Asb14	A	T	14: 26,912,097	I420L	probably benign	Het
Bbs2	A	C	8: 94,074,325	V626G	probably damaging	Het
BC089597	T	A	10: 127,876,995	D287E	probably damaging	Het
Cep290	C	A	10: 100,544,934	A1678D	probably benign	Het
Cilp	G	A	9: 65,279,004	G794S	probably damaging	Het
Clca3a1	C	T	3: 144,759,166		probably benign	Het
Clca3b	T	A	3: 144,825,937	N702I	probably damaging	Het
Col24a1	T	C	3: 145,474,182	V1143A	probably benign	Het
Cux1	T	C	5: 136,360,009	T223A	probably benign	Het
Defa30	A	T	8: 21,135,459	T80S	probably benign	Het
Dennd1a	G	A	2: 37,858,081	L375F	probably damaging	Het
Dnajc6	C	T	4: 101,623,787	T675I	probably damaging	Het
Emc9	A	G	14: 55,585,099	V4A	probably damaging	Het
Enpp3	C	G	10: 24,824,929		probably null	Het
Fam117b	A	G	1: 59,913,623	T154A	probably benign	Het
Filip1	G	T	9: 79,820,475	Y287*	probably null	Het
Flt3	T	C	5: 147,348,054	D751G	probably damaging	Het
Frem1	T	A	4: 82,999,989	Q572L	probably benign	Het
Gja10	G	A	4: 32,602,441		probably benign	Het
Gm7356	T	A	17: 14,001,437	Y110F	probably benign	Het
Igf2r	T	C	17: 12,733,860	K233R	probably benign	Het
Igkv9-129	A	T	6: 67,840,222	E103D	probably benign	Het
Igsf11	C	A	16: 39,007,224	T48N	probably damaging	Het
Itpkc	A	T	7: 27,214,519	Y506N	probably damaging	Het
Kat2a	A	C	11: 100,709,478	M357R	possibly damaging	Het
Kbtbd12	T	C	6: 88,618,150	R233G	possibly damaging	Het
Kcnd2	T	A	6: 21,726,198	C563*	probably null	Het
Kcnu1	T	C	8: 25,891,990	V456A	probably benign	Het
Kif24	A	G	4: 41,428,825	V45A	probably damaging	Het
Macf1	A	T	4: 123,395,621		probably benign	Het
Map3k19	T	A	1: 127,817,270	E1177D		Het
Mdn1	G	T	4: 32,725,107	L2575F	probably benign	Het
Mga	T	A	2: 119,946,319	M1569K	possibly damaging	Het
Mvk	T	C	5: 114,450,779	Y161H	probably damaging	Het
Olfr119	T	A	17: 37,701,498	M276K	probably benign	Het
Olfr134	C	A	17: 38,175,573	T163K	probably damaging	Het
Olfr301	G	T	7: 86,412,779	C139F	probably damaging	Het
Pcsk7	T	G	9: 45,910,409	V167G	probably damaging	Het
Plin5	T	C	17: 56,115,221	D146G	probably benign	Het
Plxna4	C	T	6: 32,211,065	G879R	possibly damaging	Het
Prss58	C	T	6: 40,895,660	A171T	probably benign	Het
Pum1	A	G	4: 130,771,920	I1016V	probably benign	Het
Rbm43	A	G	2: 51,926,700	V85A	probably damaging	Het
RP23-56A14.9	A	G	7: 142,135,623	C138R	unknown	Het
Rptor	T	A	11: 119,811,986	L393Q	probably damaging	Het
Sbf2	T	G	7: 110,371,618	H857P	possibly damaging	Het
Scn8a	A	C	15: 101,040,506	T1919P	probably benign	Het
Sema6b	C	T	17: 56,127,084	G377E	probably damaging	Het
Senp7	T	A	16: 56,155,240	D436E	probably damaging	Het
Slc6a17	T	A	3: 107,473,585	I535F	probably benign	Het
Sptbn2	T	A	19: 4,729,130	S281T	possibly damaging	Het
Stt3b	T	C	9: 115,254,931	I392M	probably damaging	Het
Tfap2b	T	C	1: 19,226,436	V201A	possibly damaging	Het
Timm10b	T	C	7: 105,640,669		probably benign	Het
Ttc23	A	C	7: 67,662,387	D14A	probably damaging	Het
Usp32	A	T	11: 85,032,185	L636I	possibly damaging	Het
Vgll4	G	T	6: 114,890,652	H79Q	probably damaging	Het
Vps13d	A	G	4: 145,092,288	I3047T		Het
Zan	T	C	5: 137,450,551	E1680G	unknown	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
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'- AGTGTCACACTGCATGTATTGC -3'
(R):5'- CCCTAAAATTGGAATTCTCCTCCG -3'

Sequencing Primer
(F):5'- GGTCGATGGTTTCTCTCAGCC -3'
(R):5'- AAAATTGGAATTCTCCTCCGTGTTTC -3'

Posted On

2020-07-28