Mutagenetix > Incidental Mutation

Incidental Mutation 'R5664:Pcdhb14'

444301

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb14

Ensembl Gene

ENSMUSG00000044043

Gene Name

protocadherin beta 14

Synonyms

PcdhbN, 2210006M07Rik, Pcdhb17

MMRRC Submission

043307-MU

Accession Numbers

Essential gene?

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

Stock #

R5664 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37447656-37456350 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37448996 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 385 (V385D)

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: V385D

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000054111
Gene: ENSMUSG00000044043
AA Change: V385D

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: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	T	A	6: 72,348,994		probably null	Het
1810032O08Rik	A	T	11: 116,672,664	T27S	possibly damaging	Het
4930432K21Rik	A	T	8: 84,166,659	I152F	probably benign	Het
9430015G10Rik	T	A	4: 156,123,559	L112H	probably damaging	Het
Acaca	T	C	11: 84,243,384	L441P	probably damaging	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Arsj	A	T	3: 126,438,657	I351F	probably damaging	Het
Atp6v1b2	A	G	8: 69,107,620	T373A	probably damaging	Het
Atr	C	A	9: 95,905,813	N1486K	probably benign	Het
Avl9	T	C	6: 56,753,839	S583P	probably damaging	Het
Bptf	A	T	11: 107,073,699	D1493E	probably benign	Het
C2cd2l	T	C	9: 44,313,772	E548G	probably damaging	Het
Capn3	G	A	2: 120,477,025	R15Q	probably benign	Het
Ccl3	A	G	11: 83,649,213	F22S	probably benign	Het
Clcf1	T	C	19: 4,222,096	F69S	probably damaging	Het
Col13a1	T	C	10: 61,851,116	E170G	probably damaging	Het
Dhx29	T	A	13: 112,946,879	F489L	probably damaging	Het
Dhx8	A	T	11: 101,740,751	N390I	probably damaging	Het
Dkk1	T	A	19: 30,548,789	Y135F	probably benign	Het
Edil3	G	T	13: 89,319,713	V446F	probably damaging	Het
Epha5	T	A	5: 84,331,866	E93V	probably damaging	Het
Epsti1	C	T	14: 77,963,664	T196I	possibly damaging	Het
Fras1	T	C	5: 96,728,535	S2376P	possibly damaging	Het
Frem2	A	G	3: 53,652,490	V1532A	probably benign	Het
Fsip2	T	A	2: 82,988,095	M4724K	probably benign	Het
Gcat	T	A	15: 79,043,073	L238Q	probably damaging	Het
Gimap6	T	C	6: 48,702,275	K276E	probably benign	Het
Gjb5	T	A	4: 127,355,929	I141F	probably benign	Het
Glt6d1	T	C	2: 25,814,180	I7V	probably benign	Het
Gm37596	A	G	3: 93,692,687	F125S	probably benign	Het
Gm5771	C	T	6: 41,394,671	P17L	probably benign	Het
Gm6169	C	A	13: 97,099,121	L39F	probably damaging	Het
Gtf2h5	G	A	17: 6,084,524	G30R	probably damaging	Het
Herc6	C	A	6: 57,618,684	T449K	probably benign	Het
Hpn	A	T	7: 31,099,262	Y132N	probably damaging	Het
Hpx	A	T	7: 105,595,148	M190K	probably benign	Het
Inf2	A	G	12: 112,611,728	H1151R	unknown	Het
Krt74	A	G	15: 101,760,579		noncoding transcript	Het
Loxl3	G	A	6: 83,049,882	S564N	probably benign	Het
Map7	T	A	10: 20,267,359	V418E	unknown	Het
Mrpl37	T	C	4: 107,064,391	N214D	probably benign	Het
Mthfr	T	C	4: 148,055,466	Y656H	probably damaging	Het
Myo9b	A	G	8: 71,359,882	D2099G	probably benign	Het
Nktr	T	A	9: 121,749,417	C825*	probably null	Het
Nomo1	A	G	7: 46,076,157	E1029G	probably benign	Het
Nup133	T	C	8: 123,906,281	D1037G	probably benign	Het
Olfr1271	A	G	2: 90,265,615	F272L	probably damaging	Het
Olfr153	T	C	2: 87,532,834	L267P	probably benign	Het
Pik3c2g	T	C	6: 139,737,007	L38P	probably damaging	Het
Pkd1	A	T	17: 24,569,371	D701V	probably damaging	Het
Pnpla6	A	G	8: 3,537,478	T1070A	probably damaging	Het
Ppl	T	C	16: 5,106,055	D185G	probably benign	Het
Prune1	A	T	3: 95,258,178	L261Q	probably damaging	Het
Qser1	A	T	2: 104,778,196	L1444I	probably damaging	Het
Serpina6	A	C	12: 103,654,467	C8G	probably damaging	Het
Sla2	A	T	2: 156,874,999	D180E	probably benign	Het
Slc4a4	C	T	5: 89,028,244	L25F	probably damaging	Het
Tbx3	A	G	5: 119,678,731	K311R	possibly damaging	Het
Thbs2	A	T	17: 14,689,837	C167S	probably damaging	Het
Trak1	T	A	9: 121,472,307	C710S	possibly damaging	Het
Tsks	G	A	7: 44,953,784	E337K	probably damaging	Het
Vcpip1	A	G	1: 9,746,379	I593T	probably damaging	Het
Vmn2r118	A	G	17: 55,592,765	I713T	possibly damaging	Het
Vmn2r23	C	T	6: 123,713,074	T303M	probably damaging	Het
Vmn2r68	A	T	7: 85,233,770	M258K	probably benign	Het
Vmn2r76	A	G	7: 86,245,994		probably null	Het
Wap	A	G	11: 6,638,609	I5T	possibly damaging	Het
Zfp235	A	C	7: 24,142,151	H665P	probably 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
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
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'- TACCGCATGGAAATCGAGGC -3'
(R):5'- CGTTGTCATTGATGTCAGACAC -3'

Sequencing Primer
(F):5'- CATGGAAATCGAGGCCTCTG -3'
(R):5'- AGACACCTGCACTGTTATGG -3'

Posted On

2016-11-09