Mutagenetix > Incidental Mutation

Incidental Mutation 'R6187:Pcdhb14'

502280

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb14

Ensembl Gene

ENSMUSG00000044043

Gene Name

protocadherin beta 14

Synonyms

Pcdhb17, 2210006M07Rik, PcdhbN

MMRRC Submission

044327-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R6187 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37580710-37584147 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37581497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 201 (D201V)

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: D201V

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

SMART Domains

Protein: ENSMUSP00000054111
Gene: ENSMUSG00000044043
AA Change: D201V

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

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (79/80)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,259,085 (GRCm39)	L2937H	probably damaging	Het
Abca3	A	G	17: 24,627,141 (GRCm39)	I1281V	possibly damaging	Het
Adam2	A	T	14: 66,306,068 (GRCm39)	S138T	possibly damaging	Het
Adamts4	C	T	1: 171,078,562 (GRCm39)	P61S	probably damaging	Het
Adamts6	C	T	13: 104,433,933 (GRCm39)	P121S	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ak1	G	A	2: 32,523,489 (GRCm39)	V186M	probably damaging	Het
Alpk1	T	C	3: 127,466,991 (GRCm39)	Y1096C	probably damaging	Het
Ankrd29	A	C	18: 12,412,747 (GRCm39)	Y73*	probably null	Het
Asah2	A	T	19: 32,002,267 (GRCm39)	S292R	probably damaging	Het
Atp6v1b1	A	T	6: 83,729,377 (GRCm39)	T105S	probably damaging	Het
Axdnd1	T	A	1: 156,193,182 (GRCm39)		probably null	Het
Bub1b	T	G	2: 118,461,481 (GRCm39)	S678A	probably damaging	Het
Cdcp3	G	A	7: 130,872,328 (GRCm39)		probably benign	Het
Cenpq	T	A	17: 41,238,089 (GRCm39)	M142L	probably benign	Het
Ciz1	T	A	2: 32,260,063 (GRCm39)	V203E	possibly damaging	Het
Cmklr2	T	C	1: 63,222,434 (GRCm39)	E267G	probably damaging	Het
Col2a1	G	T	15: 97,886,671 (GRCm39)	T378N	unknown	Het
Cyp2c68	A	T	19: 39,729,452 (GRCm39)	S12T	probably benign	Het
Cyp4f18	C	A	8: 72,747,030 (GRCm39)	A322S	probably damaging	Het
Disp2	A	G	2: 118,622,624 (GRCm39)	S1119G	probably damaging	Het
Eif2ak4	C	T	2: 118,287,638 (GRCm39)	T1081M	probably damaging	Het
Faxc	A	G	4: 21,958,445 (GRCm39)	T201A	possibly damaging	Het
Fbxw14	A	G	9: 109,105,332 (GRCm39)	S278P	probably damaging	Het
Fpr1	G	T	17: 18,097,190 (GRCm39)	C266*	probably null	Het
Fsip2	T	C	2: 82,812,798 (GRCm39)	I3039T	probably benign	Het
Gas1	G	T	13: 60,324,186 (GRCm39)	S190R	possibly damaging	Het
Gemin2	A	G	12: 59,060,371 (GRCm39)	T37A	probably damaging	Het
Gm21370	T	C	13: 120,488,403 (GRCm39)	I49V	probably benign	Het
Gm8444	T	C	15: 81,727,807 (GRCm39)		probably benign	Het
Gria1	A	G	11: 57,128,936 (GRCm39)	D401G	possibly damaging	Het
Gstk1	G	A	6: 42,226,794 (GRCm39)	V187I	possibly damaging	Het
Hmcn1	T	C	1: 150,506,479 (GRCm39)	D3776G	probably damaging	Het
Itfg1	A	C	8: 86,563,094 (GRCm39)	V102G	probably damaging	Het
Kidins220	A	G	12: 25,101,307 (GRCm39)		probably null	Het
Kif13b	A	C	14: 64,973,664 (GRCm39)	D338A	probably damaging	Het
Mab21l2	T	C	3: 86,454,565 (GRCm39)	Y145C	probably damaging	Het
Magel2	A	G	7: 62,027,389 (GRCm39)	M98V	unknown	Het
Mdfic	T	C	6: 15,721,196 (GRCm39)		probably benign	Het
Minar1	A	G	9: 89,473,220 (GRCm39)	I897T	probably damaging	Het
Mlip	G	A	9: 77,137,764 (GRCm39)	S381L	probably damaging	Het
Mycbp2	A	G	14: 103,384,453 (GRCm39)	L3475P	probably damaging	Het
Myh14	G	A	7: 44,276,457 (GRCm39)	T1216I	probably damaging	Het
Nfatc2	T	A	2: 168,322,158 (GRCm39)	I914F	probably benign	Het
Nup58	T	C	14: 60,478,256 (GRCm39)		probably null	Het
Or10ag53	T	A	2: 87,083,042 (GRCm39)	S254T	probably damaging	Het
Or10al4	T	C	17: 38,037,032 (GRCm39)	L48P	probably damaging	Het
Or13a22	A	G	7: 140,072,529 (GRCm39)		probably benign	Het
Or2y13	G	T	11: 49,414,338 (GRCm39)		probably benign	Het
Or4l15	A	G	14: 50,198,526 (GRCm39)	M1T	probably null	Het
Or5p50	A	T	7: 107,421,781 (GRCm39)	N298K	probably benign	Het
Or7g20	A	C	9: 18,946,689 (GRCm39)	Q90P	probably benign	Het
Otx1	A	T	11: 21,949,406 (GRCm39)	L24H	probably damaging	Het
Oxr1	A	G	15: 41,689,315 (GRCm39)	Q513R	probably damaging	Het
Padi1	C	T	4: 140,554,276 (GRCm39)	V310M	probably damaging	Het
Pard3	T	C	8: 127,800,023 (GRCm39)	L11S	probably benign	Het
Pcdhb7	A	G	18: 37,475,622 (GRCm39)	R253G	probably benign	Het
Plxnb2	C	T	15: 89,051,461 (GRCm39)	D253N	probably damaging	Het
Ppp2cb	T	C	8: 34,105,502 (GRCm39)	S171P	probably damaging	Het
Prr5	C	T	15: 84,577,973 (GRCm39)	T94M	probably damaging	Het
Rp1	A	G	1: 4,420,092 (GRCm39)	F340S	probably damaging	Het
Rpa1	C	G	11: 75,201,062 (GRCm39)	G433A	probably benign	Het
Smg1	A	T	7: 117,788,386 (GRCm39)		probably benign	Het
Sry	C	G	Y: 2,662,975 (GRCm39)	Q228H	unknown	Homo
Svep1	C	T	4: 58,072,872 (GRCm39)	G2146R	probably damaging	Het
Tas2r106	A	G	6: 131,655,173 (GRCm39)	M226T	probably damaging	Het
Tbk1	T	C	10: 121,420,148 (GRCm39)	I14V	probably benign	Het
Tekt4	G	C	17: 25,691,197 (GRCm39)	V168L	probably damaging	Het
Tnfaip1	T	A	11: 78,418,372 (GRCm39)	T232S	probably damaging	Het
Trio	C	T	15: 27,744,038 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,774,781 (GRCm39)	Y2133F	unknown	Het
Uap1l1	C	T	2: 25,252,741 (GRCm39)	R433H	probably damaging	Het
Ugt2b35	T	C	5: 87,155,181 (GRCm39)	F339L	probably damaging	Het
Unc5b	T	C	10: 60,608,003 (GRCm39)	Y699C	probably damaging	Het
Vcpip1	T	C	1: 9,795,005 (GRCm39)	H1122R	probably damaging	Het
Vmn2r91	T	C	17: 18,326,888 (GRCm39)	V391A	probably benign	Het
Vps13c	C	T	9: 67,822,939 (GRCm39)	R1327W	probably damaging	Het
Yes1	A	G	5: 32,802,385 (GRCm39)	Y100C	probably damaging	Het
Zfp407	A	T	18: 84,577,134 (GRCm39)	N1326K	possibly damaging	Het
Zfp518a	G	A	19: 40,903,890 (GRCm39)	C1273Y	probably benign	Het
Zfr	AGCAGCAGCAGCAGCTGCTGCTGCAGCAGCA	AGCAGCAGCA	15: 12,146,317 (GRCm39)		probably benign	Het

Other mutations in Pcdhb14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02260:Pcdhb14	APN	18	37,583,086 (GRCm39)	missense	probably benign	0.28
IGL02314:Pcdhb14	APN	18	37,583,248 (GRCm39)	missense	probably benign	0.03
IGL02411:Pcdhb14	APN	18	37,582,823 (GRCm39)	missense	possibly damaging	0.78
IGL02553:Pcdhb14	APN	18	37,581,071 (GRCm39)	nonsense	probably null
IGL02797:Pcdhb14	APN	18	37,582,904 (GRCm39)	missense	probably damaging	1.00
IGL03184:Pcdhb14	APN	18	37,582,085 (GRCm39)	missense	probably benign	0.00
IGL03352:Pcdhb14	APN	18	37,582,057 (GRCm39)	missense	possibly damaging	0.67
R0166:Pcdhb14	UTSW	18	37,581,542 (GRCm39)	splice site	probably null
R0467:Pcdhb14	UTSW	18	37,582,277 (GRCm39)	missense	probably damaging	0.98
R0675:Pcdhb14	UTSW	18	37,581,392 (GRCm39)	missense	possibly damaging	0.91
R0730:Pcdhb14	UTSW	18	37,581,921 (GRCm39)	missense	probably damaging	1.00
R1119:Pcdhb14	UTSW	18	37,581,640 (GRCm39)	missense	probably damaging	0.99
R1121:Pcdhb14	UTSW	18	37,582,645 (GRCm39)	missense	probably damaging	1.00
R1338:Pcdhb14	UTSW	18	37,582,943 (GRCm39)	missense	probably benign	0.00
R1726:Pcdhb14	UTSW	18	37,582,647 (GRCm39)	nonsense	probably null
R1743:Pcdhb14	UTSW	18	37,581,231 (GRCm39)	missense	probably benign	0.01
R1779:Pcdhb14	UTSW	18	37,582,535 (GRCm39)	missense	probably damaging	1.00
R1795:Pcdhb14	UTSW	18	37,582,588 (GRCm39)	missense	probably benign
R2131:Pcdhb14	UTSW	18	37,580,923 (GRCm39)	missense	probably benign	0.00
R2133:Pcdhb14	UTSW	18	37,580,923 (GRCm39)	missense	probably benign	0.00
R3792:Pcdhb14	UTSW	18	37,582,715 (GRCm39)	missense	probably damaging	1.00
R3916:Pcdhb14	UTSW	18	37,581,598 (GRCm39)	missense	possibly damaging	0.48
R4197:Pcdhb14	UTSW	18	37,581,358 (GRCm39)	missense	probably benign	0.01
R4282:Pcdhb14	UTSW	18	37,583,195 (GRCm39)	missense	probably damaging	1.00
R4657:Pcdhb14	UTSW	18	37,581,900 (GRCm39)	missense	possibly damaging	0.92
R4801:Pcdhb14	UTSW	18	37,581,331 (GRCm39)	missense	probably benign	0.28
R4802:Pcdhb14	UTSW	18	37,581,331 (GRCm39)	missense	probably benign	0.28
R5022:Pcdhb14	UTSW	18	37,583,223 (GRCm39)	missense	probably benign	0.03
R5034:Pcdhb14	UTSW	18	37,581,859 (GRCm39)	missense	probably damaging	0.98
R5664:Pcdhb14	UTSW	18	37,582,049 (GRCm39)	missense	possibly damaging	0.54
R5840:Pcdhb14	UTSW	18	37,581,803 (GRCm39)	missense	probably benign	0.23
R5966:Pcdhb14	UTSW	18	37,581,295 (GRCm39)	missense	probably benign
R6090:Pcdhb14	UTSW	18	37,581,659 (GRCm39)	missense	probably benign	0.45
R6148:Pcdhb14	UTSW	18	37,582,283 (GRCm39)	missense	probably damaging	1.00
R6972:Pcdhb14	UTSW	18	37,582,745 (GRCm39)	missense	probably damaging	1.00
R7394:Pcdhb14	UTSW	18	37,581,961 (GRCm39)	missense	probably benign	0.29
R7510:Pcdhb14	UTSW	18	37,582,645 (GRCm39)	missense	probably damaging	0.97
R7724:Pcdhb14	UTSW	18	37,581,937 (GRCm39)	missense	possibly damaging	0.62
R7757:Pcdhb14	UTSW	18	37,582,887 (GRCm39)	missense	possibly damaging	0.95
R8305:Pcdhb14	UTSW	18	37,583,075 (GRCm39)	missense	possibly damaging	0.48
R8338:Pcdhb14	UTSW	18	37,582,175 (GRCm39)	missense	probably damaging	1.00
R8497:Pcdhb14	UTSW	18	37,582,349 (GRCm39)	missense	probably benign	0.02
R8700:Pcdhb14	UTSW	18	37,582,652 (GRCm39)	missense	probably damaging	1.00
R8792:Pcdhb14	UTSW	18	37,582,541 (GRCm39)	missense	probably damaging	0.99
R8891:Pcdhb14	UTSW	18	37,582,692 (GRCm39)	missense	probably damaging	1.00
R8992:Pcdhb14	UTSW	18	37,582,231 (GRCm39)	missense	probably damaging	1.00
R9043:Pcdhb14	UTSW	18	37,581,851 (GRCm39)	missense	probably damaging	0.98
R9069:Pcdhb14	UTSW	18	37,583,157 (GRCm39)	nonsense	probably null
R9127:Pcdhb14	UTSW	18	37,582,091 (GRCm39)	missense	probably damaging	0.99
R9345:Pcdhb14	UTSW	18	37,581,281 (GRCm39)	missense	probably damaging	0.98
R9470:Pcdhb14	UTSW	18	37,581,076 (GRCm39)	missense	probably benign
R9626:Pcdhb14	UTSW	18	37,581,787 (GRCm39)	missense	probably damaging	1.00
R9758:Pcdhb14	UTSW	18	37,582,040 (GRCm39)	missense	probably benign	0.08
X0065:Pcdhb14	UTSW	18	37,583,037 (GRCm39)	nonsense	probably null
X0065:Pcdhb14	UTSW	18	37,582,474 (GRCm39)	missense	possibly damaging	0.95
Z1177:Pcdhb14	UTSW	18	37,582,907 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTTTGGAAAGCAGCCTTCCAG -3'
(R):5'- CGTGTGTCCCAGCATCTAAATC -3'

Sequencing Primer
(F):5'- AGGTGCCGTGTTTCCATTGAAAATAG -3'
(R):5'- CTAAATCTCTTGCGGATACAGTGAGG -3'

Posted On

2018-02-27