Mutagenetix > Incidental Mutation

Incidental Mutation 'R1945:Pcdhb4'

216629

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb4

Ensembl Gene

ENSMUSG00000045689

Gene Name

protocadherin beta 4

Synonyms

PcdhbD, Pcdhb5A

MMRRC Submission

039963-MU

Accession Numbers

Ncbi RefSeq: NM_053129.3; MGI:2136738

Essential gene?

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

Stock #

R1945 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37307455-37311172 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37308868 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 410 (R410S)

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 damaging
Transcript: ENSMUST00000056712
AA Change: R410S

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

SMART Domains

Protein: ENSMUSP00000059770
Gene: ENSMUSG00000045689
AA Change: R410S

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

noncoding transcript
Transcript: ENSMUST00000193025

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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	T	A	14: 49,768,483	E585V	probably damaging	Het
4930562C15Rik	A	G	16: 4,835,685	I33V	unknown	Het
4931408C20Rik	C	A	1: 26,682,314	V1262F	probably benign	Het
Abca1	ACGTCTTCACCAGGTAATC	AC	4: 53,061,509		probably null	Het
Amotl2	T	C	9: 102,720,554	S171P	probably benign	Het
Atf6	A	T	1: 170,855,141	V34E	probably benign	Het
Atrip	T	A	9: 109,071,867	I135F	probably damaging	Het
Bglap	A	G	3: 88,383,664	Y87H	probably damaging	Het
Camk2n1	G	A	4: 138,456,783	V78I	possibly damaging	Het
Ccdc92b	A	G	11: 74,630,009	I46V	probably benign	Het
Cdc14b	T	C	13: 64,219,890	Y208C	probably damaging	Het
Cdc42bpb	C	T	12: 111,299,133	R1455Q	probably damaging	Het
Cep170	C	A	1: 176,793,534	G26*	probably null	Het
Cfap46	A	G	7: 139,679,903	F217S	probably damaging	Het
Col11a2	A	T	17: 34,059,168	D691V	probably damaging	Het
Col7a1	G	A	9: 108,960,010	V798I	unknown	Het
Coq8b	CGCA	CGCAGCA	7: 27,233,980		probably benign	Het
Coq8b	GCA	GCAACA	7: 27,233,981		probably benign	Het
Dcaf5	T	C	12: 80,338,694	D886G	probably benign	Het
Ern1	A	G	11: 106,421,950	S202P	probably damaging	Het
Etaa1	A	G	11: 17,947,233	C295R	probably damaging	Het
Fam129a	T	C	1: 151,696,228	I308T	probably damaging	Het
Ghdc	C	T	11: 100,769,205	A239T	probably benign	Het
Gm906	C	T	13: 50,245,491	G933E	probably damaging	Het
Grik4	T	C	9: 42,521,004	D899G	possibly damaging	Het
Hacd2	C	A	16: 35,101,984	T181K	possibly damaging	Het
Havcr2	T	C	11: 46,455,050	L17P	unknown	Het
Herc3	T	C	6: 58,887,439	V686A	probably damaging	Het
Hyal3	T	C	9: 107,585,472	L235P	probably damaging	Het
Itgb4	C	T	11: 115,993,453	Q988*	probably null	Het
Krt32	T	A	11: 100,084,844		probably null	Het
Krt33a	T	C	11: 100,012,709	N199S	probably benign	Het
Lama1	T	A	17: 67,745,853	S394T	probably benign	Het
Lamp1	T	C	8: 13,172,545	V243A	probably benign	Het
Loxhd1	A	G	18: 77,404,808	Y1315C	probably damaging	Het
Macf1	A	T	4: 123,490,660	L1148*	probably null	Het
Mill2	A	G	7: 18,841,494	H42R	probably benign	Het
Myo15	T	C	11: 60,502,083	F2194L	probably damaging	Het
Myo15b	A	T	11: 115,878,398	I1472F	probably damaging	Het
Nasp	T	C	4: 116,622,768	S36G	possibly damaging	Het
Nav2	A	G	7: 49,464,872	Y868C	probably damaging	Het
Nono	T	C	X: 101,441,823		probably null	Het
Npc1l1	T	A	11: 6,214,588	I1154F	possibly damaging	Het
Npc1l1	C	T	11: 6,225,199	W592*	probably null	Het
Nsg2	T	C	11: 32,055,068	V90A	probably damaging	Het
Odf4	T	C	11: 68,922,157	N225S	possibly damaging	Het
Olfr1230	T	C	2: 89,296,784	Y162C	probably damaging	Het
Olfr340	T	C	2: 36,453,031	W149R	probably damaging	Het
Oosp2	C	T	19: 11,649,595		probably null	Het
Pde6c	T	A	19: 38,157,519	D418E	probably damaging	Het
Pik3ap1	A	T	19: 41,274,337	S799T	probably benign	Het
Pitx2	A	G	3: 129,218,536	N198S	probably damaging	Het
Psmb3	T	C	11: 97,711,155	F117S	probably benign	Het
Ptprq	A	T	10: 107,582,388	M1709K	probably benign	Het
Recql5	G	A	11: 115,928,297	R148*	probably null	Het
Reep3	A	G	10: 67,035,899	S97P	probably damaging	Het
Rnase12	T	A	14: 51,057,006	Q72L	possibly damaging	Het
Scd3	T	C	19: 44,235,780	Y151H	probably benign	Het
Scn10a	A	T	9: 119,691,454	S127T	possibly damaging	Het
Scn7a	A	T	2: 66,675,980	W1522R	probably damaging	Het
Senp7	A	G	16: 56,123,946	H211R	probably damaging	Het
Sept10	C	T	10: 59,181,019		probably null	Het
Serpinb6d	T	C	13: 33,667,680	V140A	possibly damaging	Het
Sned1	A	G	1: 93,271,238	E457G	probably benign	Het
Spag17	A	C	3: 99,939,982	M76L	probably benign	Het
Ssfa2	T	C	2: 79,662,652	V1181A	probably benign	Het
Sspo	A	T	6: 48,489,773	E105V	possibly damaging	Het
Stoml3	T	A	3: 53,505,445	D173E	possibly damaging	Het
Sun3	T	C	11: 9,038,296	I9V	probably benign	Het
Svil	T	C	18: 5,117,059	W2165R	probably damaging	Het
Tbl2	T	A	5: 135,157,600	S184T	possibly damaging	Het
Tdrd7	A	T	4: 45,965,474	T31S	probably benign	Het
Tmeff1	A	G	4: 48,614,960	N139S	possibly damaging	Het
Trip13	T	C	13: 73,927,924	R199G	probably damaging	Het
Tshb	G	T	3: 102,777,515	Y124*	probably null	Het
Ttn	T	C	2: 76,730,022	E29345G	probably damaging	Het
Usp33	T	A	3: 152,379,586	S620T	probably benign	Het
Vipr1	G	A	9: 121,668,474	G353R	probably damaging	Het
Vipr1	G	T	9: 121,668,475	G353V	probably damaging	Het
Vps13c	A	T	9: 67,886,276	D437V	probably damaging	Het
Ylpm1	T	A	12: 85,015,418	S240T	probably damaging	Het
Zfp772	A	G	7: 7,203,630	I354T	probably benign	Het
Zfp959	T	A	17: 55,897,231	Y86*	probably null	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
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
R8697:Pcdhb4	UTSW	18	37308779	missense	probably benign	0.15
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'- GATAACGCCCCAGAGTTGAC -3'
(R):5'- CACTGATGGTGCCTATGTGC -3'

Sequencing Primer
(F):5'- AGAGTTGACGGTCTCTACGCTC -3'
(R):5'- TGCCTATGTGCAGGGCG -3'

Posted On

2014-08-01