Mutagenetix > Incidental Mutation

Incidental Mutation 'R7638:BC027072'

590104

Institutional Source

Beutler Lab

Gene Symbol

BC027072

Ensembl Gene

ENSMUSG00000044375

Gene Name

cDNA sequence BC027072

Synonyms

MMRRC Submission

045696-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R7638 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71743557-71752885 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71750885 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 599 (D599G)

Ref Sequence

ENSEMBL: ENSMUSP00000051871 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057405]

AlphaFold

Q6PAC4

Predicted Effect

probably damaging
Transcript: ENSMUST00000057405
AA Change: D599G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000051871
Gene: ENSMUSG00000044375
AA Change: D599G

Domain	Start	End	E-Value	Type
Pfam:Retinal	1	1255	N/A	PFAM

Meta Mutation Damage Score

0.1015

Coding Region Coverage

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

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a knock-out allele develop severe early-onset retinal degeneration associated with a disorganized outer segment, progressive thinning of the outer nuclear layer, microglia activation, decreased a- and b-wave amplitudes, and nearly undetectable ERG responses by 8 weeks of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563D23Rik	A	G	16: 92,320,917	V161A	probably damaging	Het
Abo	T	G	2: 26,843,843	T115P	probably damaging	Het
Aggf1	G	A	13: 95,356,413	R563*	probably null	Het
Amdhd1	A	T	10: 93,534,498	Y159*	probably null	Het
C77080	T	C	4: 129,221,941	T1022A	probably benign	Het
Camp	T	C	9: 109,848,393	E124G		Het
Casq2	A	G	3: 102,086,700	E21G	possibly damaging	Het
Cbln1	A	T	8: 87,471,729	F116Y	probably damaging	Het
Cklf	A	T	8: 104,263,364	K143*	probably null	Het
Clca3a1	A	G	3: 144,751,962	I387T	probably damaging	Het
Cndp1	T	A	18: 84,636,049	D130V	probably benign	Het
Cyp4a12a	T	A	4: 115,327,473	M317K	possibly damaging	Het
D13Ertd608e	A	T	13: 119,842,688		probably null	Het
Dmxl2	A	T	9: 54,457,794	I138K	unknown	Het
Eapp	A	G	12: 54,673,723	S236P	probably benign	Het
Efnb3	T	C	11: 69,557,220	H132R	possibly damaging	Het
Fbn2	A	T	18: 58,105,136	N596K	probably damaging	Het
Fzd9	A	G	5: 135,250,630	W134R	probably damaging	Het
Gga2	A	G	7: 122,003,934	S180P	probably damaging	Het
Gm11639	T	A	11: 105,036,799	M4798K	probably benign	Het
Gm30302	G	T	13: 49,786,975	Q420K	probably benign	Het
Golga3	A	G	5: 110,205,828	T911A	probably benign	Het
Gstm1	C	T	3: 108,014,550		probably null	Het
Heg1	A	G	16: 33,727,497	T909A	probably damaging	Het
Herc2	C	T	7: 56,220,525	R4349W	probably damaging	Het
Herc2	T	C	7: 56,157,438	S2455P	probably benign	Het
Hivep2	T	G	10: 14,143,851	M2122R	possibly damaging	Het
Itga10	T	A	3: 96,657,391		probably null	Het
Kbtbd13	G	T	9: 65,391,323	C110*	probably null	Het
Krt78	T	C	15: 101,950,883	E293G	probably damaging	Het
Lgals3bp	C	T	11: 118,398,169	V110M	possibly damaging	Het
Lrp2	A	G	2: 69,477,008		probably null	Het
Lrrc14	A	G	15: 76,713,973	D301G	probably benign	Het
Lrrc71	C	A	3: 87,741,806	G352W	probably damaging	Het
Map3k9	A	G	12: 81,724,732	V694A	probably benign	Het
Mboat2	T	C	12: 24,939,326	S162P	probably damaging	Het
Megf11	C	A	9: 64,679,253	N422K	probably damaging	Het
Miga1	C	T	3: 152,276,687	S584N	probably benign	Het
Mindy2	A	G	9: 70,616,859	Y403H	probably damaging	Het
Mmd	C	T	11: 90,276,757	A204V	possibly damaging	Het
Mta3	A	T	17: 83,800,143	Y262F	probably benign	Het
Ncoa7	G	A	10: 30,722,798	S43F	probably benign	Het
Nphp4	T	C	4: 152,554,534	V874A	probably benign	Het
Nsd1	A	G	13: 55,312,328	T2226A	probably benign	Het
Nt5dc1	T	C	10: 34,314,796	H302R	probably benign	Het
Odc1	A	G	12: 17,550,002	Y389C	probably damaging	Het
Olfr175-ps1	G	A	16: 58,824,595	T38I	probably damaging	Het
Olfr551	A	G	7: 102,587,918	I275T	probably damaging	Het
Olfr970	T	G	9: 39,819,893	F85V	probably damaging	Het
Pcdhb10	A	C	18: 37,412,312	Q147P	probably benign	Het
Pdcl2	A	C	5: 76,317,828	C182G	probably damaging	Het
Pigv	T	C	4: 133,665,451	D136G	possibly damaging	Het
Pramel5	T	C	4: 144,271,440	E411G	possibly damaging	Het
Prkce	T	C	17: 86,168,600	V3A	probably benign	Het
Pth1r	T	C	9: 110,722,393	N546S	probably benign	Het
Qrich2	C	T	11: 116,455,322	V1559I	probably benign	Het
Rbm20	A	C	19: 53,814,333	D424A	possibly damaging	Het
Rbm26	C	T	14: 105,150,848	D393N	probably damaging	Het
Sf3b3	G	A	8: 110,820,813	R728C	probably damaging	Het
Srcap	A	G	7: 127,538,748	N1090S	probably benign	Het
Syt4	A	T	18: 31,443,822	S160T	probably benign	Het
Tfap2e	C	T	4: 126,721,934	V236M	probably damaging	Het
Thsd4	G	A	9: 60,394,472	T180M	probably damaging	Het
Tlr4	T	A	4: 66,840,206	M412K	probably damaging	Het
Tmem67	T	A	4: 12,079,883	H136L	probably benign	Het
Tnpo2	T	A	8: 85,044,415	I110N	probably benign	Het
Trav13d-3	A	G	14: 53,033,413	M111V	probably benign	Het
Tubb3	A	T	8: 123,421,161	S278C	probably benign	Het
Ugcg	T	A	4: 59,220,299	F364Y	probably benign	Het
Usp17lc	T	C	7: 103,418,499	S334P	probably damaging	Het
Vps13c	A	G	9: 67,945,509	D2357G	probably damaging	Het
Zfp157	T	C	5: 138,455,910	Y125H	probably benign	Het
Zfp747	A	T	7: 127,374,647	M117K	probably benign	Het
Znrd1	A	C	17: 36,957,830		probably null	Het
Zscan4c	A	T	7: 11,009,731	N419I	possibly damaging	Het

Other mutations in BC027072

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02010:BC027072	APN	17	71749464	missense	probably benign	0.38
IGL02033:BC027072	APN	17	71751081	missense	probably damaging	1.00
IGL02711:BC027072	APN	17	71749382	missense	probably benign	0.15
IGL03185:BC027072	APN	17	71749337	missense	probably damaging	0.98
IGL03242:BC027072	APN	17	71750271	missense	probably benign	0.01
R0367:BC027072	UTSW	17	71750476	missense	probably damaging	1.00
R0413:BC027072	UTSW	17	71752217	missense	probably benign	0.38
R0465:BC027072	UTSW	17	71750160	missense	probably benign	0.42
R0535:BC027072	UTSW	17	71752439	missense	probably benign	0.01
R0681:BC027072	UTSW	17	71749514	missense	probably benign	0.00
R0736:BC027072	UTSW	17	71744664	missense	probably benign	0.00
R1406:BC027072	UTSW	17	71749161	missense	probably benign	0.18
R1406:BC027072	UTSW	17	71749161	missense	probably benign	0.18
R1530:BC027072	UTSW	17	71749478	missense	probably benign	0.01
R1723:BC027072	UTSW	17	71750378	missense	probably damaging	1.00
R1941:BC027072	UTSW	17	71752068	missense	probably damaging	1.00
R2179:BC027072	UTSW	17	71752526	missense	probably damaging	1.00
R2232:BC027072	UTSW	17	71749284	missense	probably benign	0.00
R2519:BC027072	UTSW	17	71751647	missense	probably damaging	1.00
R2997:BC027072	UTSW	17	71744711	critical splice acceptor site	probably benign
R3899:BC027072	UTSW	17	71750160	missense	probably benign	0.00
R4890:BC027072	UTSW	17	71752311	missense	possibly damaging	0.50
R4898:BC027072	UTSW	17	71751071	missense	probably damaging	1.00
R5347:BC027072	UTSW	17	71749935	missense	probably benign	0.00
R5436:BC027072	UTSW	17	71750842	missense	probably damaging	1.00
R5527:BC027072	UTSW	17	71752640	missense	probably damaging	1.00
R5556:BC027072	UTSW	17	71752425	missense	possibly damaging	0.81
R5625:BC027072	UTSW	17	71751326	missense	probably damaging	1.00
R5707:BC027072	UTSW	17	71751572	missense	possibly damaging	0.90
R5932:BC027072	UTSW	17	71751753	missense	probably damaging	1.00
R6043:BC027072	UTSW	17	71750042	missense	probably damaging	1.00
R6314:BC027072	UTSW	17	71752457	missense	probably benign	0.04
R6513:BC027072	UTSW	17	71744706	missense	probably damaging	1.00
R7575:BC027072	UTSW	17	71750855	missense	probably damaging	1.00
R7848:BC027072	UTSW	17	71749193	missense	probably benign	0.04
R8317:BC027072	UTSW	17	71749202	missense	probably benign	0.10
R8530:BC027072	UTSW	17	71752106	missense	probably damaging	1.00
R8671:BC027072	UTSW	17	71751377	missense	probably benign	0.34
R8831:BC027072	UTSW	17	71752310	missense	probably benign	0.01
R8854:BC027072	UTSW	17	71749331	missense	probably benign
R8941:BC027072	UTSW	17	71752142	missense	probably benign	0.06
R9227:BC027072	UTSW	17	71750222	missense	probably damaging	1.00
R9230:BC027072	UTSW	17	71750222	missense	probably damaging	1.00
R9380:BC027072	UTSW	17	71749356	missense	possibly damaging	0.95
R9390:BC027072	UTSW	17	71750988	missense	probably benign	0.09
R9618:BC027072	UTSW	17	71750822	missense	probably damaging	1.00
X0035:BC027072	UTSW	17	71744711	critical splice acceptor site	probably benign
Z1177:BC027072	UTSW	17	71750403	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGGCCTTGAACTTGCTGATG -3'
(R):5'- CCAGGCCCAGGAAATGATTCTG -3'

Sequencing Primer
(F):5'- TGATGGCACTACTGGGACTCAC -3'
(R):5'- TTCTGAAGATGAAAGAGGCCATC -3'

Posted On

2019-10-24