Mutagenetix > Incidental Mutation

Incidental Mutation 'R8697:Pcdhb4'

668806

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb4

Ensembl Gene

ENSMUSG00000045689

Gene Name

protocadherin beta 4

Synonyms

PcdhbD, Pcdhb5A

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_053129.3; MGI:2136738

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R8697 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37307455-37311172 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37308779 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 381 (V381M)

Ref Sequence

ENSEMBL: ENSMUSP00000059770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051754] [ENSMUST00000056712] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

Q91XZ6

Predicted Effect

probably benign
Transcript: ENSMUST00000051754

SMART Domains

Protein: ENSMUSP00000059180
Gene: ENSMUSG00000045498

Domain	Start	End	E-Value	Type
low complexity region	14	28	N/A	INTRINSIC
CA	44	131	6.29e-1	SMART
CA	155	240	7.16e-21	SMART
CA	264	345	1.22e-23	SMART
CA	368	449	2.86e-20	SMART
CA	473	559	2.55e-26	SMART
CA	589	670	1.11e-8	SMART
Pfam:Cadherin_C_2	687	770	9.9e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056712
AA Change: V381M

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000059770
Gene: ENSMUSG00000045689
AA Change: V381M

Domain	Start	End	E-Value	Type
CA	54	131	1.66e0	SMART
CA	155	240	1.07e-19	SMART
CA	264	344	6.03e-28	SMART
CA	367	448	2.57e-22	SMART
CA	472	558	3.36e-26	SMART
CA	588	669	3.48e-10	SMART
Pfam:Cadherin_C_2	685	768	1e-25	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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930558K02Rik	C	T	1: 161,967,996	A8T	probably benign	Het
Acacb	T	C	5: 114,213,380	V1130A	probably damaging	Het
Ackr1	A	G	1: 173,332,208	F248S	probably damaging	Het
Alx4	G	A	2: 93,675,312	R253Q	probably damaging	Het
Ap3b2	T	C	7: 81,473,035	I485V	possibly damaging	Het
Aqp7	T	C	4: 41,045,305	E25G	probably damaging	Het
Cacna1g	T	C	11: 94,416,698	N1753D	probably benign	Het
Cacna2d1	T	A	5: 16,365,867	N1063K	possibly damaging	Het
Cad	T	C	5: 31,074,601	V1801A	probably benign	Het
Ccdc171	T	C	4: 83,682,340	W868R	probably damaging	Het
Cecr2	T	C	6: 120,733,818	Y165H	probably damaging	Het
Clip4	G	T	17: 71,856,275	G614V	possibly damaging	Het
Ctnnal1	T	A	4: 56,838,986	M236L	probably damaging	Het
Ctps	T	C	4: 120,542,750	D470G	probably benign	Het
Dmwd	A	C	7: 19,078,188	Q189P	probably damaging	Het
Dnah17	A	G	11: 118,086,159	I1869T	possibly damaging	Het
Eepd1	A	G	9: 25,586,702	N361S	probably benign	Het
Ephb6	C	T	6: 41,614,223	H105Y	probably damaging	Het
Fkbp15	A	T	4: 62,321,058	Y603*	probably null	Het
Flt3	T	C	5: 147,358,001	Y420C	possibly damaging	Het
Frem2	T	A	3: 53,525,828	T2692S	probably damaging	Het
Gna12	T	A	5: 140,785,445	R157S	probably benign	Het
Gsdmc	A	T	15: 63,780,034	S243T	probably benign	Het
Hectd1	A	G	12: 51,772,537		probably benign	Het
Hoxd11	G	A	2: 74,682,669	G93R	unknown	Het
Hydin	A	G	8: 110,532,883	I2496V	probably benign	Het
Igsf10	A	G	3: 59,318,887	I2455T	probably benign	Het
Ilvbl	A	T	10: 78,583,362	R482*	probably null	Het
Itpr1	A	G	6: 108,523,366	Y2640C	probably damaging	Het
Kif20a	C	G	18: 34,628,531	Q326E	probably benign	Het
Lamp1	A	T	8: 13,174,448	M371L	possibly damaging	Het
Lcn6	A	G	2: 25,677,154	N56D	probably benign	Het
Map3k10	A	G	7: 27,663,359	V434A	probably benign	Het
Mdga1	T	C	17: 29,846,641	N331S	probably damaging	Het
Mndal	C	A	1: 173,872,992	E138*	probably null	Het
Morc3	T	C	16: 93,871,020	V762A	probably benign	Het
Ngef	A	T	1: 87,489,737	F279Y	probably damaging	Het
Olfr1026	A	T	2: 85,923,856	K196I	possibly damaging	Het
Olfr455	A	G	6: 42,538,695	V109A	probably damaging	Het
Padi4	GGAGCTCCTGA	GGA	4: 140,757,919		probably null	Het
Ppm1d	T	C	11: 85,337,160	Y301H	possibly damaging	Het
Rasgrf1	A	G	9: 89,995,002	T807A	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Sipa1l2	T	C	8: 125,482,116	K518E	probably damaging	Het
Slc52a3	A	G	2: 152,004,476	D119G	probably damaging	Het
Srsf4	C	T	4: 131,900,731	H379Y	unknown	Het
Ssr1	G	T	13: 37,983,449	S246*	probably null	Het
Tars2	C	T	3: 95,746,062	E509K	possibly damaging	Het
Tcrg-C2	A	T	13: 19,307,344	M69K		Het
Tepsin	G	T	11: 120,097,528	Y34*	probably null	Het
Tmtc2	A	G	10: 105,369,970	I488T	probably damaging	Het
Ttc37	A	G	13: 76,180,155	S1441G	probably damaging	Het
Ttn	A	G	2: 76,744,776	W25258R	probably damaging	Het
Utp14b	T	C	1: 78,666,527	M714T	probably benign	Het
Vwa3b	T	A	1: 37,076,380	H308Q	probably benign	Het
Washc2	A	G	6: 116,229,259	D480G	probably benign	Het
Xcl1	C	T	1: 164,935,439	V18I	unknown	Het
Zcchc2	C	A	1: 106,030,764	N988K	probably damaging	Het

Other mutations in Pcdhb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Pcdhb4	APN	18	37309916	missense	possibly damaging	0.68
IGL01319:Pcdhb4	APN	18	37308513	missense	probably benign
IGL01325:Pcdhb4	APN	18	37309623	missense	probably damaging	1.00
IGL01608:Pcdhb4	APN	18	37308750	missense	probably damaging	1.00
IGL01808:Pcdhb4	APN	18	37309014	missense	probably damaging	1.00
IGL01962:Pcdhb4	APN	18	37309004	missense	possibly damaging	0.90
IGL02280:Pcdhb4	APN	18	37307682	missense	probably benign	0.00
IGL02622:Pcdhb4	APN	18	37309668	missense	probably benign	0.00
IGL03025:Pcdhb4	APN	18	37309977	missense	possibly damaging	0.62
IGL03137:Pcdhb4	APN	18	37308516	missense	probably damaging	0.98
P0031:Pcdhb4	UTSW	18	37308885	missense	probably damaging	1.00
R0385:Pcdhb4	UTSW	18	37309215	missense	probably damaging	1.00
R0611:Pcdhb4	UTSW	18	37308210	missense	probably damaging	1.00
R0671:Pcdhb4	UTSW	18	37307742	missense	probably benign	0.01
R0738:Pcdhb4	UTSW	18	37308711	missense	probably damaging	1.00
R0853:Pcdhb4	UTSW	18	37309885	nonsense	probably null
R0893:Pcdhb4	UTSW	18	37309370	splice site	probably null
R1932:Pcdhb4	UTSW	18	37309541	missense	probably benign	0.33
R1945:Pcdhb4	UTSW	18	37308868	missense	probably damaging	1.00
R2194:Pcdhb4	UTSW	18	37308735	missense	probably damaging	1.00
R2273:Pcdhb4	UTSW	18	37308926	missense	probably damaging	1.00
R3807:Pcdhb4	UTSW	18	37309314	missense	probably damaging	0.98
R3815:Pcdhb4	UTSW	18	37308012	missense	probably damaging	1.00
R3816:Pcdhb4	UTSW	18	37308012	missense	probably damaging	1.00
R3974:Pcdhb4	UTSW	18	37308848	missense	possibly damaging	0.55
R4558:Pcdhb4	UTSW	18	37309964	missense	probably benign
R4606:Pcdhb4	UTSW	18	37308652	missense	probably damaging	1.00
R4615:Pcdhb4	UTSW	18	37308500	missense	probably benign	0.02
R4840:Pcdhb4	UTSW	18	37308399	missense	possibly damaging	0.60
R5240:Pcdhb4	UTSW	18	37309926	missense	possibly damaging	0.78
R5272:Pcdhb4	UTSW	18	37307766	missense	probably benign	0.04
R5586:Pcdhb4	UTSW	18	37308981	missense	probably damaging	1.00
R5683:Pcdhb4	UTSW	18	37308989	missense	probably benign	0.45
R5917:Pcdhb4	UTSW	18	37309566	missense	probably damaging	1.00
R6110:Pcdhb4	UTSW	18	37308429	missense	possibly damaging	0.80
R6383:Pcdhb4	UTSW	18	37308021	missense	probably damaging	1.00
R6877:Pcdhb4	UTSW	18	37309572	missense	probably damaging	1.00
R7036:Pcdhb4	UTSW	18	37308782	missense	possibly damaging	0.95
R7204:Pcdhb4	UTSW	18	37309239	missense	probably damaging	1.00
R7271:Pcdhb4	UTSW	18	37308169	missense	possibly damaging	0.89
R7436:Pcdhb4	UTSW	18	37309275	missense	probably damaging	1.00
R7444:Pcdhb4	UTSW	18	37309452	missense	probably damaging	1.00
R7614:Pcdhb4	UTSW	18	37309549	missense	probably benign	0.40
R7650:Pcdhb4	UTSW	18	37309614	missense	probably damaging	1.00
R7664:Pcdhb4	UTSW	18	37309240	missense	probably damaging	1.00
R8080:Pcdhb4	UTSW	18	37309296	missense	probably benign	0.42
R8087:Pcdhb4	UTSW	18	37308664	missense	probably damaging	1.00
R8115:Pcdhb4	UTSW	18	37309400	missense	probably damaging	0.99
R8815:Pcdhb4	UTSW	18	37309002	missense	probably damaging	1.00
R9008:Pcdhb4	UTSW	18	37307661	missense	probably benign
R9225:Pcdhb4	UTSW	18	37308642	missense	possibly damaging	0.68
R9278:Pcdhb4	UTSW	18	37308872	missense	possibly damaging	0.61
R9299:Pcdhb4	UTSW	18	37309211	missense	probably benign	0.02
R9390:Pcdhb4	UTSW	18	37309728	missense	possibly damaging	0.80
R9582:Pcdhb4	UTSW	18	37308364	missense	probably damaging	1.00
R9686:Pcdhb4	UTSW	18	37309890	missense	probably damaging	0.98
R9721:Pcdhb4	UTSW	18	37309852	missense	possibly damaging	0.70
Z1177:Pcdhb4	UTSW	18	37309913	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ACTATAATGTGGAAATCGCAGCC -3'
(R):5'- GTTGTCGTTGATGTCAGACACC -3'

Sequencing Primer
(F):5'- AATCGCAGCCACGGATG -3'
(R):5'- GTTGATGTCAGACACCTGCAC -3'

Posted On

2021-04-30