Mutagenetix > Incidental Mutation

Incidental Mutation 'R9225:Pcdhb4'

699826

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 #

R9225 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37307455-37311172 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37308642 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 335 (Q335L)

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

possibly damaging
Transcript: ENSMUST00000056712
AA Change: Q335L

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000059770
Gene: ENSMUSG00000045689
AA Change: Q335L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	G	T	5: 87,972,574	V397L	probably benign	Het
Adam26b	G	T	8: 43,520,416	Y516*	probably null	Het
Afap1	A	G	5: 35,976,624	K468E	possibly damaging	Het
Ank2	A	G	3: 126,942,462	S3258P	unknown	Het
Ap1g1	A	G	8: 109,858,877	K783E	probably benign	Het
Apbb1	A	G	7: 105,568,856	S20P		Het
Atg13	T	C	2: 91,688,783		probably null	Het
Atg16l2	A	G	7: 101,301,981	V16A	probably benign	Het
Atp11a	G	A	8: 12,817,005	R144Q	probably benign	Het
Avpr1a	A	T	10: 122,449,561	T253S	probably benign	Het
B4galnt3	T	C	6: 120,218,967	T300A	probably damaging	Het
Bag4	A	G	8: 25,771,242	V157A	probably benign	Het
Brsk2	A	G	7: 141,993,302	H494R	probably damaging	Het
Cacna2d2	G	A	9: 107,526,204	G955S	probably benign	Het
Ccdc42	A	T	11: 68,588,235	E83V	probably damaging	Het
Cep120	T	C	18: 53,706,824	Q788R	probably benign	Het
Cnbd1	A	G	4: 18,907,010	I188T	probably benign	Het
Col6a6	C	T	9: 105,782,238	E503K	possibly damaging	Het
Cpt1c	A	T	7: 44,960,789	L661H	probably damaging	Het
Cyp2a22	T	C	7: 26,937,777	D194G	possibly damaging	Het
Cyp2c70	C	A	19: 40,180,468	R125L	probably damaging	Het
Cyp3a41a	A	T	5: 145,713,604	D76E	probably benign	Het
Cyp4f13	A	T	17: 32,925,345	I458N	probably damaging	Het
Cyp4f13	T	C	17: 32,929,201	Q350R	probably damaging	Het
Ddx60	G	A	8: 62,017,841	V1456I	probably benign	Het
Dgkh	T	C	14: 78,725,067	H8R	probably damaging	Het
Diaph3	A	G	14: 87,007,324		probably null	Het
Dnah8	A	C	17: 30,635,673	D103A	probably benign	Het
Dock4	G	A	12: 40,829,670	R1551Q	probably benign	Het
Eps8	A	T	6: 137,530,563	S56T	probably benign	Het
Fam171b	T	A	2: 83,880,042	L686Q	probably damaging	Het
Fndc3b	A	C	3: 27,456,531	L814*	probably null	Het
Gcnt2	T	A	13: 40,860,860	L169Q	probably damaging	Het
Gm21103	T	A	14: 6,303,883	I56F	possibly damaging	Het
Gpc1	A	T	1: 92,856,020	K276N	probably damaging	Het
Hivep1	T	A	13: 42,183,708	V2421D	probably damaging	Het
Hoxb1	T	C	11: 96,366,293	L156P	probably benign	Het
Ifi208	A	G	1: 173,690,728	D467G	possibly damaging	Het
Klhl22	A	G	16: 17,776,753	M249V	probably damaging	Het
Kmt2b	A	G	7: 30,586,747	V240A	unknown	Het
Lacc1	A	T	14: 77,034,974	Y127*	probably null	Het
Lgr4	C	A	2: 110,012,140	H823Q	probably benign	Het
Llgl1	T	C	11: 60,710,063	S662P	probably damaging	Het
Lrrc1	G	A	9: 77,452,673	T279I	probably benign	Het
Lrrc8e	T	A	8: 4,234,561	V262E	probably damaging	Het
Magi1	G	T	6: 93,785,530	P292T	possibly damaging	Het
Mccc1	T	A	3: 35,964,362	I608F	probably benign	Het
Mroh8	T	A	2: 157,265,090	I220L	probably damaging	Het
Mycn	C	A	12: 12,937,608	D263Y	probably damaging	Het
Myrip	A	G	9: 120,464,784	K782E	probably damaging	Het
Ncoa6	T	A	2: 155,407,521	I1288F	possibly damaging	Het
Nebl	A	G	2: 17,400,511	I399T	possibly damaging	Het
Neurod1	A	T	2: 79,454,387	H217Q	probably benign	Het
Nlrp5	T	C	7: 23,417,946	V365A	probably benign	Het
Olfr1452-ps1	A	G	19: 13,017,006	*261W	probably null	Het
Olfr1452-ps1	G	C	19: 13,017,007	*261Y	probably null	Het
Olfr20	C	A	11: 73,353,769	N5K	probably damaging	Het
Olfr693	A	G	7: 106,677,769	V239A	probably benign	Het
Otud7a	A	G	7: 63,757,721	T591A	possibly damaging	Het
Pbx3	T	C	2: 34,370,926		probably benign	Het
Plxnc1	C	A	10: 94,793,199	C1571F	probably damaging	Het
Pola2	G	A	19: 5,950,464	P330S	probably benign	Het
Ppm1l	A	T	3: 69,552,911	N274Y	probably benign	Het
Ppp4r3b	A	G	11: 29,205,648	D538G	possibly damaging	Het
Ptx4	C	T	17: 25,122,722	T57I	probably benign	Het
Rchy1	A	T	5: 91,957,537	C108*	probably null	Het
Rif1	A	G	2: 52,111,850	E130G	probably benign	Het
Rmdn1	A	T	4: 19,601,385	Y219F	probably damaging	Het
Rnf144a	A	G	12: 26,327,607	C46R	probably damaging	Het
Rpl13a	C	A	7: 45,126,203	G146V	probably damaging	Het
Rpl13a	C	A	7: 45,126,204	G146W	probably damaging	Het
Rtn3	A	T	19: 7,457,489	N379K	probably damaging	Het
Sdc1	G	T	12: 8,771,817	R19L	unknown	Het
Shank1	A	G	7: 44,334,046	I651V	unknown	Het
Slamf6	T	C	1: 171,936,703	V221A	probably benign	Het
Soga3	A	T	10: 29,196,331	K540*	probably null	Het
Sp9	C	A	2: 73,273,495	S131*	probably null	Het
Spen	T	C	4: 141,475,632	T1895A	possibly damaging	Het
Taf6l	CGCAGCCGCACCTG	CG	19: 8,774,324		probably benign	Het
Thada	G	T	17: 84,441,744	H600N	possibly damaging	Het
Trmt11	G	T	10: 30,547,757	P384Q	probably damaging	Het
Tsnaxip1	T	C	8: 105,840,027	L165P	probably damaging	Het
Ttc7	A	G	17: 87,330,074	Y419C	probably damaging	Het
Ugt1a6a	T	C	1: 88,138,838	F122S	probably benign	Het
Vmn1r218	G	A	13: 23,136,654	C57Y	probably benign	Het
Vmn2r14	T	C	5: 109,221,422	N95S	probably damaging	Het
Vmn2r2	G	T	3: 64,126,600	H500Q	probably benign	Het
Vmn2r70	T	A	7: 85,559,034	Y745F	probably damaging	Het
Zfp189	C	T	4: 49,530,193	S432F	probably benign	Het
Zscan2	C	T	7: 80,863,273	A2V	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
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
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'- TTGTCACGGTCTCTGCTAGG -3'
(R):5'- TGGCCTCTCTGTCGCTAAAG -3'

Sequencing Primer
(F):5'- TGCTGGGATATATGGCAATATAGC -3'
(R):5'- GCCTCTCTGTCGCTAAAGTATAATAG -3'

Posted On

2022-02-07