Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4445001:Pcdhb6'

555439

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb6

Ensembl Gene

ENSMUSG00000051678

Gene Name

protocadherin beta 6

Synonyms

Pcdhb5B, PcdhbF

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

PIT4445001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37466913-37470491 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 37468300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 407 (P407Q)

Ref Sequence

ENSEMBL: ENSMUSP00000058592 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061717] [ENSMUST00000115661] [ENSMUST00000194544] [ENSMUST00000194655]

AlphaFold

Q91XZ4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061717
AA Change: P407Q

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000058592
Gene: ENSMUSG00000051678
AA Change: P407Q

Domain	Start	End	E-Value	Type
Pfam:Cadherin_2	30	112	2.7e-33	PFAM
CA	155	240	1.48e-22	SMART
CA	264	344	3.02e-28	SMART
CA	367	448	1.69e-22	SMART
CA	472	558	1.65e-25	SMART
CA	588	669	6.24e-12	SMART
Pfam:Cadherin_C_2	685	768	4.7e-26	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

Predicted Effect

probably benign
Transcript: ENSMUST00000194655

SMART Domains

Protein: ENSMUSP00000141773
Gene: ENSMUSG00000051678

Domain	Start	End	E-Value	Type
Blast:CA	1	60	2e-11	BLAST

Coding Region Coverage

1x: 93.5%
3x: 90.8%
10x: 84.5%
20x: 70.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 109,966,377 (GRCm39)	K419E	probably damaging	Het
Adam7	T	A	14: 68,747,197 (GRCm39)	K587N	possibly damaging	Het
Agl	T	C	3: 116,565,109 (GRCm39)	M382V		Het
Agpat3	A	T	10: 78,109,927 (GRCm39)	F341I	possibly damaging	Het
Ampd2	A	T	3: 107,982,328 (GRCm39)	L767Q	probably damaging	Het
Arhgap28	A	T	17: 68,203,230 (GRCm39)	D124E	possibly damaging	Het
Arhgap32	T	C	9: 32,172,152 (GRCm39)	L1644P	probably damaging	Het
Asic4	T	C	1: 75,427,771 (GRCm39)	V99A	probably benign	Het
Asns	T	A	6: 7,689,277 (GRCm39)	N75I	probably damaging	Het
Atp10a	A	G	7: 58,453,215 (GRCm39)	D798G	probably damaging	Het
Atp8a1	A	G	5: 67,780,003 (GRCm39)	V1145A		Het
Ccdc171	A	G	4: 83,579,984 (GRCm39)	Q577R	probably damaging	Het
Cd247	T	A	1: 165,688,605 (GRCm39)	D154E	probably damaging	Het
Ceacam1	A	T	7: 25,175,881 (GRCm39)	N104K	probably damaging	Het
Chfr	A	G	5: 110,299,543 (GRCm39)	D312G	possibly damaging	Het
Ddb1	C	A	19: 10,603,334 (GRCm39)	L881I	probably damaging	Het
Dgkh	A	T	14: 78,813,382 (GRCm39)	I1032N	possibly damaging	Het
Efcab6	A	T	15: 83,788,468 (GRCm39)	V942D	probably benign	Het
Fmo5	A	G	3: 97,558,844 (GRCm39)	T435A	probably benign	Het
Fpr1	T	C	17: 18,097,155 (GRCm39)	Q278R	probably benign	Het
Fzr1	C	T	10: 81,205,228 (GRCm39)	W256*	probably null	Het
Gabrb1	T	C	5: 72,266,125 (GRCm39)	S261P	probably damaging	Het
Galr2	G	T	11: 116,172,474 (GRCm39)	A55S	probably benign	Het
Gbp2	A	T	3: 142,343,227 (GRCm39)	K581N	probably benign	Het
Gria1	A	T	11: 57,076,664 (GRCm39)	Y89F	probably damaging	Het
Ibsp	T	A	5: 104,450,170 (GRCm39)	I26N	possibly damaging	Het
Igf1r	T	C	7: 67,857,211 (GRCm39)	F1058L	probably damaging	Het
Ighv1-16	A	C	12: 114,629,680 (GRCm39)	C36G	probably benign	Het
Igll1	T	C	16: 16,678,783 (GRCm39)	T176A	probably benign	Het
Ilkap	T	C	1: 91,313,067 (GRCm39)	T143A	probably benign	Het
Kdm3b	A	T	18: 34,926,168 (GRCm39)	K103*	probably null	Het
Mphosph9	A	G	5: 124,436,853 (GRCm39)	I497T	possibly damaging	Het
Mrgpra3	G	A	7: 47,239,908 (GRCm39)	T6I	possibly damaging	Het
Mrpl38	T	C	11: 116,023,384 (GRCm39)		probably null	Het
Myo3a	A	T	2: 22,434,457 (GRCm39)	E813V	possibly damaging	Het
Myo7b	T	C	18: 32,095,405 (GRCm39)	K1851R	probably damaging	Het
Myo7b	G	T	18: 32,092,519 (GRCm39)	Q2093K	possibly damaging	Het
P3h2	T	A	16: 25,803,749 (GRCm39)	D339V	probably benign	Het
Plch2	C	A	4: 155,093,483 (GRCm39)	R153L	probably damaging	Het
Plppr4	G	A	3: 117,153,957 (GRCm39)		probably benign	Het
Ppp1r3a	A	G	6: 14,717,776 (GRCm39)	F1046S	probably damaging	Het
Pramel41	T	G	5: 94,596,366 (GRCm39)	W468G	probably benign	Het
Prkacb	A	T	3: 146,461,446 (GRCm39)	L107M	probably benign	Het
Ranbp17	A	G	11: 33,431,020 (GRCm39)		probably null	Het
Rasl11b	C	A	5: 74,357,994 (GRCm39)	P88Q	probably damaging	Het
Rcc2	A	G	4: 140,448,460 (GRCm39)	E503G	possibly damaging	Het
Rnf216	T	A	5: 143,071,758 (GRCm39)	K407N	probably damaging	Het
Rusf1	A	G	7: 127,875,706 (GRCm39)	V243A	probably benign	Het
Scrn3	G	A	2: 73,148,673 (GRCm39)	M81I	possibly damaging	Het
Scube2	T	C	7: 109,408,387 (GRCm39)	T687A	probably benign	Het
Serpinb10	T	A	1: 107,463,728 (GRCm39)	F3L	probably benign	Het
Sgcb	C	T	5: 73,797,155 (GRCm39)	V202I	probably damaging	Het
Sgce	A	G	6: 4,689,654 (GRCm39)	V429A	possibly damaging	Het
Sh3rf2	T	C	18: 42,286,229 (GRCm39)	V574A	probably benign	Het
Sncaip	T	C	18: 53,002,016 (GRCm39)	L179S	probably damaging	Het
Sntg2	A	T	12: 30,362,571 (GRCm39)	D58E	probably damaging	Het
Taar3	T	C	10: 23,825,586 (GRCm39)	I44T	possibly damaging	Het
Tmem87b	G	A	2: 128,673,391 (GRCm39)	V227I	probably benign	Het
Tnfsf9	T	C	17: 57,412,517 (GRCm39)	L29P	possibly damaging	Het
Tnip2	T	C	5: 34,654,215 (GRCm39)	H391R	probably benign	Het
Traf5	A	G	1: 191,729,768 (GRCm39)	Y125H		Het
Ttc23	T	G	7: 67,316,961 (GRCm39)	I77M	probably damaging	Het
Ube2l3	T	C	16: 16,978,036 (GRCm39)	N43S	probably benign	Het
Vars2	A	T	17: 35,977,103 (GRCm39)	C142*	probably null	Het
Vmn2r15	A	C	5: 109,435,008 (GRCm39)	D565E	probably damaging	Het
Vmn2r56	C	T	7: 12,449,153 (GRCm39)		probably null	Het
Vmn2r79	A	T	7: 86,651,408 (GRCm39)	D269V	possibly damaging	Het
Vmn2r85	A	T	10: 130,261,572 (GRCm39)	M255K	probably benign	Het
Wfdc6a	T	A	2: 164,421,746 (GRCm39)	*137C	probably null	Het
Wipi2	T	C	5: 142,652,639 (GRCm39)	V417A	probably benign	Het
Xirp2	G	T	2: 67,340,116 (GRCm39)	V786L	possibly damaging	Het
Zdhhc13	G	A	7: 48,445,697 (GRCm39)	G26S	probably benign	Het
Zscan25	T	A	5: 145,227,422 (GRCm39)	V362D	probably damaging	Het

Other mutations in Pcdhb6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Pcdhb6	APN	18	37,467,277 (GRCm39)	missense	probably damaging	1.00
IGL02123:Pcdhb6	APN	18	37,468,873 (GRCm39)	missense	probably damaging	1.00
IGL02491:Pcdhb6	APN	18	37,468,735 (GRCm39)	missense	probably damaging	1.00
IGL02496:Pcdhb6	APN	18	37,468,507 (GRCm39)	missense	probably damaging	1.00
IGL02608:Pcdhb6	APN	18	37,467,747 (GRCm39)	missense	probably damaging	0.99
IGL03130:Pcdhb6	APN	18	37,468,640 (GRCm39)	nonsense	probably null
IGL03144:Pcdhb6	APN	18	37,467,459 (GRCm39)	missense	probably damaging	1.00
IGL03189:Pcdhb6	APN	18	37,469,205 (GRCm39)	missense	probably damaging	0.98
IGL03203:Pcdhb6	APN	18	37,467,585 (GRCm39)	missense	possibly damaging	0.95
IGL03388:Pcdhb6	APN	18	37,469,190 (GRCm39)	missense	probably damaging	0.99
R0571:Pcdhb6	UTSW	18	37,468,167 (GRCm39)	missense	probably benign	0.01
R0734:Pcdhb6	UTSW	18	37,468,387 (GRCm39)	missense	probably damaging	0.99
R1727:Pcdhb6	UTSW	18	37,467,640 (GRCm39)	missense	probably damaging	1.00
R2206:Pcdhb6	UTSW	18	37,468,633 (GRCm39)	missense	probably benign	0.10
R2207:Pcdhb6	UTSW	18	37,468,633 (GRCm39)	missense	probably benign	0.10
R2303:Pcdhb6	UTSW	18	37,469,284 (GRCm39)	missense	probably damaging	1.00
R2401:Pcdhb6	UTSW	18	37,468,222 (GRCm39)	missense	probably benign	0.35
R3409:Pcdhb6	UTSW	18	37,468,945 (GRCm39)	missense	probably damaging	1.00
R3411:Pcdhb6	UTSW	18	37,468,945 (GRCm39)	missense	probably damaging	1.00
R3625:Pcdhb6	UTSW	18	37,469,193 (GRCm39)	missense	probably damaging	1.00
R3716:Pcdhb6	UTSW	18	37,469,259 (GRCm39)	missense	probably benign	0.01
R4745:Pcdhb6	UTSW	18	37,468,426 (GRCm39)	missense	possibly damaging	0.86
R4821:Pcdhb6	UTSW	18	37,467,381 (GRCm39)	missense	probably damaging	1.00
R5218:Pcdhb6	UTSW	18	37,467,388 (GRCm39)	missense	possibly damaging	0.95
R5465:Pcdhb6	UTSW	18	37,467,783 (GRCm39)	missense	probably damaging	0.97
R5522:Pcdhb6	UTSW	18	37,467,402 (GRCm39)	missense	probably benign
R5556:Pcdhb6	UTSW	18	37,467,442 (GRCm39)	missense	probably damaging	1.00
R5703:Pcdhb6	UTSW	18	37,467,753 (GRCm39)	missense	probably benign	0.15
R6154:Pcdhb6	UTSW	18	37,467,966 (GRCm39)	missense	probably benign	0.00
R6256:Pcdhb6	UTSW	18	37,468,978 (GRCm39)	missense	probably damaging	0.98
R6304:Pcdhb6	UTSW	18	37,468,974 (GRCm39)	nonsense	probably null
R6528:Pcdhb6	UTSW	18	37,467,556 (GRCm39)	missense	probably damaging	1.00
R6883:Pcdhb6	UTSW	18	37,468,198 (GRCm39)	missense	probably damaging	1.00
R7045:Pcdhb6	UTSW	18	37,469,329 (GRCm39)	missense	possibly damaging	0.88
R7307:Pcdhb6	UTSW	18	37,468,531 (GRCm39)	missense	probably benign
R7313:Pcdhb6	UTSW	18	37,468,261 (GRCm39)	missense	probably damaging	0.99
R7378:Pcdhb6	UTSW	18	37,468,225 (GRCm39)	missense	probably damaging	1.00
R7555:Pcdhb6	UTSW	18	37,468,332 (GRCm39)	missense	possibly damaging	0.60
R7606:Pcdhb6	UTSW	18	37,468,659 (GRCm39)	missense	probably damaging	0.99
R7701:Pcdhb6	UTSW	18	37,467,562 (GRCm39)	missense	probably damaging	1.00
R7830:Pcdhb6	UTSW	18	37,469,365 (GRCm39)	missense	probably benign	0.05
R7905:Pcdhb6	UTSW	18	37,467,607 (GRCm39)	missense	probably benign	0.00
R7982:Pcdhb6	UTSW	18	37,467,273 (GRCm39)	nonsense	probably null
R8818:Pcdhb6	UTSW	18	37,468,837 (GRCm39)	missense	probably benign	0.06
R8917:Pcdhb6	UTSW	18	37,468,431 (GRCm39)	missense	possibly damaging	0.92
R9397:Pcdhb6	UTSW	18	37,469,353 (GRCm39)	missense	probably benign	0.00
Z1088:Pcdhb6	UTSW	18	37,468,199 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGTGAACGACAATGCCCC -3'
(R):5'- CTGATGGTGCCTATGTGCAG -3'

Sequencing Primer
(F):5'- TGTGAACGACAATGCCCCTAAAC -3'
(R):5'- TGCCTATGTGCAGGGCGG -3'

Posted On

2019-06-07