Mutagenetix > Incidental Mutation

Incidental Mutation 'R7570:Rp1l1'

585755

Institutional Source

Beutler Lab

Gene Symbol

Rp1l1

Ensembl Gene

ENSMUSG00000046049

Gene Name

retinitis pigmentosa 1 homolog like 1

Synonyms

Dcdc4, Rp1hl1

MMRRC Submission

045631-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R7570 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63992506-64035025 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 64031574 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 1536 (C1536*)

Ref Sequence

ENSEMBL: ENSMUSP00000055449 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058229]

AlphaFold

Q8CGM2

Predicted Effect

probably null
Transcript: ENSMUST00000058229
AA Change: C1536*

SMART Domains

Protein: ENSMUSP00000055449
Gene: ENSMUSG00000046049
AA Change: C1536*

Domain	Start	End	E-Value	Type
low complexity region	11	21	N/A	INTRINSIC
DCX	37	121	1.58e-13	SMART
DCX	155	239	1e-15	SMART
low complexity region	709	728	N/A	INTRINSIC
low complexity region	870	884	N/A	INTRINSIC
low complexity region	1159	1177	N/A	INTRINSIC
low complexity region	1228	1239	N/A	INTRINSIC
low complexity region	1612	1618	N/A	INTRINSIC
low complexity region	1642	1652	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (104/106)

MGI Phenotype

FUNCTION: This gene encodes a member of the doublecortin family. This protein is a retinal-specific protein. It contains two N-terminal doublecortin domains, which can assemble and stabilize axonemal microtubules, but lacks the C-terminal repetitive regions including the 16aa repeat found in human RP1L1. This protein and the RP1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit retinal photoreceptor abnormalities, including scattered outer segment disorganization, reduced electroretinogram amplitudes, and progressive retinal rod cell degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	C	T	6: 91,934,610 (GRCm38)	T613I	probably benign	Het
9130019O22Rik	T	A	7: 127,385,283 (GRCm38)	S216C	probably benign	Het
Ajuba	T	C	14: 54,576,402 (GRCm38)	E288G	probably damaging	Het
Ankrd12	C	T	17: 65,985,360 (GRCm38)	R1026K	probably benign	Het
Apol7b	T	C	15: 77,423,474 (GRCm38)	T274A	probably benign	Het
Arid4a	A	T	12: 71,063,142 (GRCm38)	R86*	probably null	Het
Asnsd1	C	T	1: 53,348,258 (GRCm38)	G70D	probably damaging	Het
Atg4c	T	A	4: 99,228,560 (GRCm38)	V313D	possibly damaging	Het
Atp13a5	A	C	16: 29,266,963 (GRCm38)	C885G	probably damaging	Het
Bpifb9a	A	T	2: 154,262,263 (GRCm38)	I209F	possibly damaging	Het
Bsn	T	C	9: 108,113,543 (GRCm38)	D1670G	probably damaging	Het
Cct8	T	A	16: 87,491,322 (GRCm38)	I121F	probably benign	Het
Cd209a	T	G	8: 3,744,151 (GRCm38)	D217A	probably damaging	Het
Cdk19	C	T	10: 40,477,958 (GRCm38)	S456L	possibly damaging	Het
Chd9	C	T	8: 90,994,580 (GRCm38)	H999Y	unknown	Het
Col5a1	G	A	2: 27,951,383 (GRCm38)	V339M	unknown	Het
Cr2	G	A	1: 195,169,340 (GRCm38)	R115*	probably null	Het
Cyb561	A	T	11: 105,937,644 (GRCm38)	F62I	probably damaging	Het
Cyp2c38	A	T	19: 39,404,743 (GRCm38)	N293K	possibly damaging	Het
Cyp2c69	A	T	19: 39,859,898 (GRCm38)	D293E	probably damaging	Het
Dcbld2	T	A	16: 58,424,569 (GRCm38)	C69S	possibly damaging	Het
Dcdc2a	T	C	13: 25,119,373 (GRCm38)	S296P	probably benign	Het
Dmxl1	T	A	18: 49,893,957 (GRCm38)	I2044K	possibly damaging	Het
Dnah5	A	G	15: 28,346,952 (GRCm38)	D2527G	probably damaging	Het
Dnah6	T	C	6: 73,149,430 (GRCm38)	T1305A	probably benign	Het
Dnajc9	A	G	14: 20,388,644 (GRCm38)	V47A	probably benign	Het
Dnmt3b	A	G	2: 153,676,699 (GRCm38)	Y594C	probably damaging	Het
Dph7	A	G	2: 24,965,630 (GRCm38)	D147G	probably damaging	Het
Drap1	T	C	19: 5,423,352 (GRCm38)	H164R	possibly damaging	Het
Dsg3	T	A	18: 20,527,780 (GRCm38)	V392E	possibly damaging	Het
Dxo	A	G	17: 34,837,640 (GRCm38)	D81G	probably benign	Het
E230025N22Rik	G	T	18: 36,695,592 (GRCm38)	T11K	probably benign	Het
Esyt1	A	G	10: 128,518,932 (GRCm38)	V533A	possibly damaging	Het
Etv3	T	A	3: 87,536,031 (GRCm38)	C307*	probably null	Het
Fam114a1	T	A	5: 65,030,059 (GRCm38)		probably null	Het
Fam208b	A	G	13: 3,573,621 (GRCm38)	Y2110H	probably damaging	Het
Fam3c	T	A	6: 22,326,405 (GRCm38)		probably benign	Het
Fbn1	G	T	2: 125,397,852 (GRCm38)	T305K	probably benign	Het
Ggt1	A	T	10: 75,585,594 (GRCm38)	I484F	probably damaging	Het
Gm10639	A	T	9: 78,304,469 (GRCm38)	D171V	possibly damaging	Het
Gpatch1	T	C	7: 35,293,812 (GRCm38)	D536G	probably damaging	Het
Gpx4	T	C	10: 80,055,041 (GRCm38)	I189T	probably damaging	Het
Gsr	T	A	8: 33,669,165 (GRCm38)	C85S	probably damaging	Het
Havcr1	T	A	11: 46,770,542 (GRCm38)		probably null	Het
Heatr4	T	C	12: 83,979,644 (GRCm38)	T280A	probably benign	Het
Hmcn2	A	T	2: 31,423,911 (GRCm38)	E3532D	probably benign	Het
Hnrnpc	T	C	14: 52,075,099 (GRCm38)	N308S	possibly damaging	Het
Ighv8-9	A	G	12: 115,468,738 (GRCm38)	V13A	probably benign	Het
Itgb2l	A	T	16: 96,426,239 (GRCm38)	F535I	probably benign	Het
Kdm5a	T	G	6: 120,427,842 (GRCm38)	D1348E	probably damaging	Het
Kndc1	CT	C	7: 139,923,775 (GRCm38)		probably null	Het
Ky	A	G	9: 102,542,329 (GRCm38)	I512V	probably benign	Het
Lamc1	A	T	1: 153,243,275 (GRCm38)	F866Y	possibly damaging	Het
Lbx1	C	A	19: 45,235,248 (GRCm38)		probably benign	Het
Magel2	A	G	7: 62,378,910 (GRCm38)	T521A	possibly damaging	Het
Mgam	A	T	6: 40,746,433 (GRCm38)	I491L	probably benign	Het
Mitd1	T	C	1: 37,890,192 (GRCm38)	E40G	probably damaging	Het
Mpzl3	A	G	9: 45,070,687 (GRCm38)	T218A	probably benign	Het
Mrpl42	A	G	10: 95,480,965 (GRCm38)	S77P	probably benign	Het
Mup5	C	T	4: 61,834,674 (GRCm38)	W37*	probably null	Het
Myh14	T	C	7: 44,632,426 (GRCm38)	I803V	probably benign	Het
Ncor2	T	A	5: 125,030,089 (GRCm38)	T744S		Het
Ndufv3	A	G	17: 31,527,622 (GRCm38)	D162G	probably damaging	Het
Nostrin	A	G	2: 69,175,806 (GRCm38)	E278G	probably damaging	Het
Nrxn1	T	G	17: 90,162,379 (GRCm38)	E1288A	probably benign	Het
Olfr1205	A	G	2: 88,831,128 (GRCm38)	N4D	possibly damaging	Het
Olfr623	C	A	7: 103,660,881 (GRCm38)	R123L	probably damaging	Het
Olfr648	T	A	7: 104,179,748 (GRCm38)	Y220F	probably damaging	Het
Olfr972	A	T	9: 39,873,455 (GRCm38)	Y60F	possibly damaging	Het
Patj	T	A	4: 98,424,500 (GRCm38)		probably null	Het
Pcm1	T	G	8: 41,267,344 (GRCm38)	I314R	possibly damaging	Het
Pcsk6	A	G	7: 66,033,898 (GRCm38)	T754A	probably benign	Het
Pde2a	A	T	7: 101,502,834 (GRCm38)	N326I	probably benign	Het
Plekhg4	T	C	8: 105,378,684 (GRCm38)	S594P	possibly damaging	Het
Plekhm3	T	C	1: 64,937,906 (GRCm38)	D135G	probably damaging	Het
Plin4	A	T	17: 56,106,776 (GRCm38)	M283K	probably benign	Het
Ppfia3	T	C	7: 45,340,748 (GRCm38)		probably null	Het
Prdm9	T	C	17: 15,555,652 (GRCm38)	N179S	probably benign	Het
Prrt3	T	C	6: 113,494,488 (GRCm38)	S908G	probably damaging	Het
Psg22	C	A	7: 18,722,735 (GRCm38)	S181Y	possibly damaging	Het
Rcor3	C	A	1: 192,137,876 (GRCm38)	G8V	probably damaging	Het
Rpp25l	T	C	4: 41,712,529 (GRCm38)	H82R	probably damaging	Het
Rps3a1	T	A	3: 86,139,089 (GRCm38)	M172L	probably benign	Het
Rtbdn	T	C	8: 84,952,927 (GRCm38)	L110P	probably damaging	Het
Ryr1	T	A	7: 29,078,585 (GRCm38)	Q2169L	probably damaging	Het
Scn4a	A	T	11: 106,320,473 (GRCm38)	C1573S	possibly damaging	Het
Sec16b	A	T	1: 157,531,395 (GRCm38)		probably null	Het
Serpina1a	A	T	12: 103,853,837 (GRCm38)	D383E	possibly damaging	Het
Sh3gl3	T	C	7: 82,285,077 (GRCm38)	M262T	probably benign	Het
Sos2	G	A	12: 69,590,880 (GRCm38)	T1052M	probably damaging	Het
Spag16	G	A	1: 69,996,841 (GRCm38)	V343I	probably benign	Het
Spocd1	T	G	4: 129,930,164 (GRCm38)	D251E		Het
Stc2	G	T	11: 31,367,798 (GRCm38)	N74K	probably damaging	Het
Thbs3	C	T	3: 89,219,052 (GRCm38)	Q227*	probably null	Het
Tmem92	A	C	11: 94,778,990 (GRCm38)	I105R	probably benign	Het
Tmod1	T	A	4: 46,083,632 (GRCm38)	N20K	probably benign	Het
Tns1	T	C	1: 73,953,479 (GRCm38)	D53G	probably damaging	Het
Tspan33	T	A	6: 29,717,338 (GRCm38)	L246Q	probably damaging	Het
Ttc16	A	G	2: 32,768,968 (GRCm38)	L392P	probably damaging	Het
Uggt1	T	A	1: 36,185,838 (GRCm38)	T572S	probably benign	Het
Usp17la	A	T	7: 104,860,397 (GRCm38)	T70S	probably damaging	Het
Usp31	C	T	7: 121,674,963 (GRCm38)	R370H	probably damaging	Het
Wdr83	C	T	8: 85,079,834 (GRCm38)	V112M	probably damaging	Het
Zbtb25	T	A	12: 76,369,592 (GRCm38)		probably benign	Het
Zfp110	T	A	7: 12,849,340 (GRCm38)	N638K	possibly damaging	Het
Zfp820	T	C	17: 21,819,013 (GRCm38)	T445A	probably benign	Het

Other mutations in Rp1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00494:Rp1l1	APN	14	64,028,725 (GRCm38)	missense	probably benign	0.01
IGL02063:Rp1l1	APN	14	64,029,536 (GRCm38)	missense	probably damaging	0.99
IGL02132:Rp1l1	APN	14	64,028,810 (GRCm38)	missense	probably benign
IGL02430:Rp1l1	APN	14	64,029,286 (GRCm38)	missense	probably benign	0.00
IGL02977:Rp1l1	APN	14	64,028,150 (GRCm38)	missense	probably benign	0.01
IGL03213:Rp1l1	APN	14	64,028,415 (GRCm38)	missense	probably damaging	0.98
IGL03346:Rp1l1	APN	14	64,029,440 (GRCm38)	missense	probably benign
R0085:Rp1l1	UTSW	14	64,022,295 (GRCm38)	missense	probably damaging	0.99
R0347:Rp1l1	UTSW	14	64,030,804 (GRCm38)	nonsense	probably null
R0362:Rp1l1	UTSW	14	64,031,066 (GRCm38)	nonsense	probably null
R0369:Rp1l1	UTSW	14	64,029,388 (GRCm38)	missense	possibly damaging	0.84
R0538:Rp1l1	UTSW	14	64,022,092 (GRCm38)	missense	probably damaging	1.00
R0544:Rp1l1	UTSW	14	64,032,066 (GRCm38)	missense	probably benign	0.00
R0780:Rp1l1	UTSW	14	64,030,351 (GRCm38)	missense	possibly damaging	0.94
R0944:Rp1l1	UTSW	14	64,032,232 (GRCm38)	missense	probably benign	0.05
R1051:Rp1l1	UTSW	14	64,032,535 (GRCm38)	missense	probably damaging	0.99
R1126:Rp1l1	UTSW	14	64,030,469 (GRCm38)	missense	probably damaging	1.00
R1450:Rp1l1	UTSW	14	64,028,150 (GRCm38)	missense	probably benign	0.01
R1483:Rp1l1	UTSW	14	64,029,047 (GRCm38)	missense	possibly damaging	0.76
R1508:Rp1l1	UTSW	14	64,030,892 (GRCm38)	missense	possibly damaging	0.83
R1553:Rp1l1	UTSW	14	64,031,894 (GRCm38)	missense	probably benign	0.00
R1651:Rp1l1	UTSW	14	64,030,993 (GRCm38)	missense	probably damaging	0.97
R1682:Rp1l1	UTSW	14	64,028,968 (GRCm38)	missense	probably damaging	0.98
R1809:Rp1l1	UTSW	14	64,027,966 (GRCm38)	missense	probably benign	0.18
R1885:Rp1l1	UTSW	14	64,028,390 (GRCm38)	missense	probably benign	0.01
R1887:Rp1l1	UTSW	14	64,028,390 (GRCm38)	missense	probably benign	0.01
R1898:Rp1l1	UTSW	14	64,031,590 (GRCm38)	missense	probably benign	0.04
R1924:Rp1l1	UTSW	14	64,031,543 (GRCm38)	missense	probably benign
R1939:Rp1l1	UTSW	14	64,029,593 (GRCm38)	missense	probably benign
R1941:Rp1l1	UTSW	14	64,022,252 (GRCm38)	missense	probably damaging	1.00
R2129:Rp1l1	UTSW	14	64,028,966 (GRCm38)	missense	possibly damaging	0.93
R2363:Rp1l1	UTSW	14	64,029,998 (GRCm38)	missense	possibly damaging	0.55
R3894:Rp1l1	UTSW	14	64,029,307 (GRCm38)	missense	probably benign
R3974:Rp1l1	UTSW	14	64,030,309 (GRCm38)	missense	probably damaging	1.00
R3975:Rp1l1	UTSW	14	64,030,309 (GRCm38)	missense	probably damaging	1.00
R3976:Rp1l1	UTSW	14	64,030,309 (GRCm38)	missense	probably damaging	1.00
R4072:Rp1l1	UTSW	14	64,028,132 (GRCm38)	missense	probably damaging	1.00
R4672:Rp1l1	UTSW	14	64,031,270 (GRCm38)	missense	probably damaging	1.00
R4673:Rp1l1	UTSW	14	64,031,270 (GRCm38)	missense	probably damaging	1.00
R4749:Rp1l1	UTSW	14	64,029,800 (GRCm38)	missense	probably damaging	0.99
R4755:Rp1l1	UTSW	14	64,030,070 (GRCm38)	missense	probably benign	0.34
R4877:Rp1l1	UTSW	14	64,026,171 (GRCm38)	missense	probably benign	0.00
R4930:Rp1l1	UTSW	14	64,032,206 (GRCm38)	missense	probably benign
R5039:Rp1l1	UTSW	14	64,031,356 (GRCm38)	missense	probably benign	0.21
R5106:Rp1l1	UTSW	14	64,027,946 (GRCm38)	missense	probably damaging	1.00
R5184:Rp1l1	UTSW	14	64,030,180 (GRCm38)	missense	probably damaging	1.00
R5215:Rp1l1	UTSW	14	64,030,013 (GRCm38)	missense	probably benign	0.01
R5409:Rp1l1	UTSW	14	64,030,621 (GRCm38)	missense	probably benign	0.02
R5575:Rp1l1	UTSW	14	64,030,984 (GRCm38)	missense	probably benign	0.23
R5696:Rp1l1	UTSW	14	64,029,746 (GRCm38)	missense	probably damaging	0.99
R5739:Rp1l1	UTSW	14	64,032,170 (GRCm38)	missense	probably benign	0.01
R5878:Rp1l1	UTSW	14	64,028,906 (GRCm38)	missense	probably benign	0.09
R6133:Rp1l1	UTSW	14	64,030,096 (GRCm38)	missense	probably damaging	1.00
R6134:Rp1l1	UTSW	14	64,030,096 (GRCm38)	missense	probably damaging	1.00
R6135:Rp1l1	UTSW	14	64,030,096 (GRCm38)	missense	probably damaging	1.00
R6428:Rp1l1	UTSW	14	64,032,389 (GRCm38)	missense	possibly damaging	0.92
R6594:Rp1l1	UTSW	14	64,031,677 (GRCm38)	nonsense	probably null
R6736:Rp1l1	UTSW	14	64,029,724 (GRCm38)	missense	possibly damaging	0.93
R6800:Rp1l1	UTSW	14	64,031,150 (GRCm38)	missense	possibly damaging	0.92
R6848:Rp1l1	UTSW	14	64,028,218 (GRCm38)	missense	possibly damaging	0.79
R6878:Rp1l1	UTSW	14	64,031,852 (GRCm38)	missense	probably benign	0.00
R6922:Rp1l1	UTSW	14	64,030,385 (GRCm38)	missense	possibly damaging	0.93
R6980:Rp1l1	UTSW	14	64,028,720 (GRCm38)	missense	probably benign	0.02
R7053:Rp1l1	UTSW	14	64,031,509 (GRCm38)	missense	possibly damaging	0.68
R7151:Rp1l1	UTSW	14	64,029,026 (GRCm38)	missense	possibly damaging	0.73
R7291:Rp1l1	UTSW	14	64,032,298 (GRCm38)	missense	probably benign	0.10
R7335:Rp1l1	UTSW	14	64,031,998 (GRCm38)	missense	probably benign	0.00
R7344:Rp1l1	UTSW	14	64,029,620 (GRCm38)	missense	probably benign	0.00
R7470:Rp1l1	UTSW	14	64,028,566 (GRCm38)	missense	probably benign
R7585:Rp1l1	UTSW	14	64,030,139 (GRCm38)	missense	probably damaging	0.96
R7591:Rp1l1	UTSW	14	64,026,109 (GRCm38)	missense	probably damaging	1.00
R7667:Rp1l1	UTSW	14	64,029,803 (GRCm38)	missense	probably benign	0.04
R7862:Rp1l1	UTSW	14	64,028,027 (GRCm38)	missense	probably damaging	1.00
R7935:Rp1l1	UTSW	14	64,031,225 (GRCm38)	missense	probably damaging	0.99
R8256:Rp1l1	UTSW	14	64,028,153 (GRCm38)	missense	probably benign	0.18
R8403:Rp1l1	UTSW	14	64,028,809 (GRCm38)	missense	probably benign	0.21
R8709:Rp1l1	UTSW	14	64,031,846 (GRCm38)	missense	probably damaging	0.98
R8817:Rp1l1	UTSW	14	64,030,636 (GRCm38)	missense	probably benign
R8971:Rp1l1	UTSW	14	64,021,996 (GRCm38)	missense	probably damaging	1.00
R9380:Rp1l1	UTSW	14	64,029,026 (GRCm38)	missense	probably benign	0.29
R9438:Rp1l1	UTSW	14	64,028,125 (GRCm38)	missense	possibly damaging	0.90
R9501:Rp1l1	UTSW	14	64,028,590 (GRCm38)	missense	probably benign	0.00
R9652:Rp1l1	UTSW	14	64,032,265 (GRCm38)	missense	probably damaging	1.00
R9683:Rp1l1	UTSW	14	64,031,677 (GRCm38)	missense	probably damaging	0.97
X0057:Rp1l1	UTSW	14	64,030,040 (GRCm38)	missense	probably benign	0.14
X0063:Rp1l1	UTSW	14	64,029,223 (GRCm38)	missense	probably damaging	0.98
Z1088:Rp1l1	UTSW	14	64,030,378 (GRCm38)	missense	probably benign	0.01
Z1088:Rp1l1	UTSW	14	64,028,758 (GRCm38)	missense	possibly damaging	0.80
Z1176:Rp1l1	UTSW	14	64,029,144 (GRCm38)	missense	probably damaging	1.00
Z1177:Rp1l1	UTSW	14	64,032,297 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGTCAGGAAGATCCAGAGCC -3'
(R):5'- CCTGAGACAACATCCTTCCTG -3'

Sequencing Primer
(F):5'- AGGCTTCTCTACAGACAGAGCAG -3'
(R):5'- TTCCTGTCCTCTGAGGGGC -3'

Posted On

2019-10-17