Mutagenetix > Incidental Mutation

Incidental Mutation 'R6878:Rp1l1'

536533

Institutional Source

Beutler Lab

Gene Symbol

Rp1l1

Ensembl Gene

ENSMUSG00000046049

Gene Name

retinitis pigmentosa 1 homolog like 1

Synonyms

Dcdc4, Rp1hl1

MMRRC Submission

044974-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R6878 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64229880-64270955 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64269301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1629 (E1629G)

Ref Sequence

ENSEMBL: ENSMUSP00000055449 (fasta)

Gene Model

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

AlphaFold

Q8CGM2

Predicted Effect

probably benign
Transcript: ENSMUST00000058229
AA Change: E1629G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000055449
Gene: ENSMUSG00000046049
AA Change: E1629G

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: 99.3%
20x: 97.7%

Validation Efficiency

98% (44/45)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,581,613 (GRCm39)	N4810K	probably benign	Het
Arhgap26	A	T	18: 39,360,465 (GRCm39)	I397F	probably damaging	Het
Arhgap35	A	G	7: 16,299,038 (GRCm39)	V9A	probably benign	Het
Asl	A	G	5: 130,053,133 (GRCm39)		probably null	Het
Atg2a	T	A	19: 6,300,208 (GRCm39)	L672Q	probably damaging	Het
B4galt1	T	C	4: 40,809,694 (GRCm39)	D316G	probably damaging	Het
Bpifb2	A	G	2: 153,717,832 (GRCm39)		probably benign	Het
Ccl1	T	C	11: 82,070,519 (GRCm39)	I18V	probably benign	Het
Cd47	A	G	16: 49,731,232 (GRCm39)	E278G	possibly damaging	Het
Cilp	G	A	9: 65,187,129 (GRCm39)	G1075S	probably damaging	Het
Eml2	T	C	7: 18,934,537 (GRCm39)	V604A	probably benign	Het
Fancm	A	T	12: 65,163,197 (GRCm39)	R1454*	probably null	Het
Gm4302	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	10: 100,177,361 (GRCm39)		probably benign	Het
Gm4302	GCA	GCACCA	10: 100,177,377 (GRCm39)		probably benign	Het
Gm4302	CAG	CAGAAG	10: 100,177,369 (GRCm39)		probably benign	Het
Hif1a	T	C	12: 73,975,055 (GRCm39)	M147T	possibly damaging	Het
Hps5	C	G	7: 46,433,058 (GRCm39)	A221P	probably damaging	Het
Lrrc49	A	G	9: 60,587,431 (GRCm39)	S67P	probably damaging	Het
Madd	T	A	2: 91,000,202 (GRCm39)	N568I	probably damaging	Het
Meikin	T	C	11: 54,302,712 (GRCm39)	S375P	possibly damaging	Het
Mfsd6	G	T	1: 52,747,912 (GRCm39)	Q318K	probably damaging	Het
Mis18a	A	T	16: 90,518,644 (GRCm39)	I106N	probably damaging	Het
Myl2	T	C	5: 122,243,140 (GRCm39)	I148T	probably benign	Het
Myrf	T	C	19: 10,193,842 (GRCm39)	Q730R	possibly damaging	Het
Nf1	T	C	11: 79,325,708 (GRCm39)	L560P	probably damaging	Het
Npat	A	G	9: 53,467,899 (GRCm39)	T285A	probably benign	Het
Ntrk3	T	A	7: 77,954,120 (GRCm39)	D547V	probably benign	Het
Obox2	G	T	7: 15,131,245 (GRCm39)	S117I	probably benign	Het
Or8k32	A	G	2: 86,369,109 (GRCm39)	L48P	probably damaging	Het
Parva	T	A	7: 112,175,656 (GRCm39)	N226K	possibly damaging	Het
Pcdha3	T	A	18: 37,080,416 (GRCm39)	L386*	probably null	Het
Ppip5k1	A	G	2: 121,142,417 (GRCm39)	F1323S	probably benign	Het
Prkdc	T	C	16: 15,594,936 (GRCm39)	V2771A	probably benign	Het
Prl7c1	T	C	13: 27,962,827 (GRCm39)	T59A	possibly damaging	Het
Rab15	T	C	12: 76,851,257 (GRCm39)	T20A	probably benign	Het
Rpap1	A	T	2: 119,608,657 (GRCm39)	L235Q	probably damaging	Het
Sema3a	A	T	5: 13,505,511 (GRCm39)	I91F	possibly damaging	Het
Snx6	T	C	12: 54,810,386 (GRCm39)		probably null	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Speer4f2	T	G	5: 17,580,765 (GRCm39)	M114R	probably damaging	Het
Syne1	T	C	10: 5,370,388 (GRCm39)	D264G	possibly damaging	Het
Tbl1xr1	T	G	3: 22,257,368 (GRCm39)	N410K	possibly damaging	Het
Tmed7	A	T	18: 46,726,532 (GRCm39)	D74E	probably damaging	Het
Upk3b	T	C	5: 136,068,001 (GRCm39)	V64A	probably benign	Het
Vmn2r29	A	G	7: 7,244,863 (GRCm39)	V337A	probably benign	Het
Yy1	C	G	12: 108,780,682 (GRCm39)	P352A	probably damaging	Het
Zfp1005	C	T	2: 150,108,406 (GRCm39)	L56F	possibly damaging	Het
Zfp873	T	C	10: 81,896,529 (GRCm39)	I457T	probably benign	Het

Other mutations in Rp1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00494:Rp1l1	APN	14	64,266,174 (GRCm39)	missense	probably benign	0.01
IGL02063:Rp1l1	APN	14	64,266,985 (GRCm39)	missense	probably damaging	0.99
IGL02132:Rp1l1	APN	14	64,266,259 (GRCm39)	missense	probably benign
IGL02430:Rp1l1	APN	14	64,266,735 (GRCm39)	missense	probably benign	0.00
IGL02977:Rp1l1	APN	14	64,265,599 (GRCm39)	missense	probably benign	0.01
IGL03213:Rp1l1	APN	14	64,265,864 (GRCm39)	missense	probably damaging	0.98
IGL03346:Rp1l1	APN	14	64,266,889 (GRCm39)	missense	probably benign
R0085:Rp1l1	UTSW	14	64,259,744 (GRCm39)	missense	probably damaging	0.99
R0347:Rp1l1	UTSW	14	64,268,253 (GRCm39)	nonsense	probably null
R0362:Rp1l1	UTSW	14	64,268,515 (GRCm39)	nonsense	probably null
R0369:Rp1l1	UTSW	14	64,266,837 (GRCm39)	missense	possibly damaging	0.84
R0538:Rp1l1	UTSW	14	64,259,541 (GRCm39)	missense	probably damaging	1.00
R0544:Rp1l1	UTSW	14	64,269,515 (GRCm39)	missense	probably benign	0.00
R0780:Rp1l1	UTSW	14	64,267,800 (GRCm39)	missense	possibly damaging	0.94
R0944:Rp1l1	UTSW	14	64,269,681 (GRCm39)	missense	probably benign	0.05
R1051:Rp1l1	UTSW	14	64,269,984 (GRCm39)	missense	probably damaging	0.99
R1126:Rp1l1	UTSW	14	64,267,918 (GRCm39)	missense	probably damaging	1.00
R1450:Rp1l1	UTSW	14	64,265,599 (GRCm39)	missense	probably benign	0.01
R1483:Rp1l1	UTSW	14	64,266,496 (GRCm39)	missense	possibly damaging	0.76
R1508:Rp1l1	UTSW	14	64,268,341 (GRCm39)	missense	possibly damaging	0.83
R1553:Rp1l1	UTSW	14	64,269,343 (GRCm39)	missense	probably benign	0.00
R1651:Rp1l1	UTSW	14	64,268,442 (GRCm39)	missense	probably damaging	0.97
R1682:Rp1l1	UTSW	14	64,266,417 (GRCm39)	missense	probably damaging	0.98
R1809:Rp1l1	UTSW	14	64,265,415 (GRCm39)	missense	probably benign	0.18
R1885:Rp1l1	UTSW	14	64,265,839 (GRCm39)	missense	probably benign	0.01
R1887:Rp1l1	UTSW	14	64,265,839 (GRCm39)	missense	probably benign	0.01
R1898:Rp1l1	UTSW	14	64,269,039 (GRCm39)	missense	probably benign	0.04
R1924:Rp1l1	UTSW	14	64,268,992 (GRCm39)	missense	probably benign
R1939:Rp1l1	UTSW	14	64,267,042 (GRCm39)	missense	probably benign
R1941:Rp1l1	UTSW	14	64,259,701 (GRCm39)	missense	probably damaging	1.00
R2129:Rp1l1	UTSW	14	64,266,415 (GRCm39)	missense	possibly damaging	0.93
R2363:Rp1l1	UTSW	14	64,267,447 (GRCm39)	missense	possibly damaging	0.55
R3894:Rp1l1	UTSW	14	64,266,756 (GRCm39)	missense	probably benign
R3974:Rp1l1	UTSW	14	64,267,758 (GRCm39)	missense	probably damaging	1.00
R3975:Rp1l1	UTSW	14	64,267,758 (GRCm39)	missense	probably damaging	1.00
R3976:Rp1l1	UTSW	14	64,267,758 (GRCm39)	missense	probably damaging	1.00
R4072:Rp1l1	UTSW	14	64,265,581 (GRCm39)	missense	probably damaging	1.00
R4672:Rp1l1	UTSW	14	64,268,719 (GRCm39)	missense	probably damaging	1.00
R4673:Rp1l1	UTSW	14	64,268,719 (GRCm39)	missense	probably damaging	1.00
R4749:Rp1l1	UTSW	14	64,267,249 (GRCm39)	missense	probably damaging	0.99
R4755:Rp1l1	UTSW	14	64,267,519 (GRCm39)	missense	probably benign	0.34
R4877:Rp1l1	UTSW	14	64,263,620 (GRCm39)	missense	probably benign	0.00
R4930:Rp1l1	UTSW	14	64,269,655 (GRCm39)	missense	probably benign
R5039:Rp1l1	UTSW	14	64,268,805 (GRCm39)	missense	probably benign	0.21
R5106:Rp1l1	UTSW	14	64,265,395 (GRCm39)	missense	probably damaging	1.00
R5184:Rp1l1	UTSW	14	64,267,629 (GRCm39)	missense	probably damaging	1.00
R5215:Rp1l1	UTSW	14	64,267,462 (GRCm39)	missense	probably benign	0.01
R5409:Rp1l1	UTSW	14	64,268,070 (GRCm39)	missense	probably benign	0.02
R5575:Rp1l1	UTSW	14	64,268,433 (GRCm39)	missense	probably benign	0.23
R5696:Rp1l1	UTSW	14	64,267,195 (GRCm39)	missense	probably damaging	0.99
R5739:Rp1l1	UTSW	14	64,269,619 (GRCm39)	missense	probably benign	0.01
R5878:Rp1l1	UTSW	14	64,266,355 (GRCm39)	missense	probably benign	0.09
R6133:Rp1l1	UTSW	14	64,267,545 (GRCm39)	missense	probably damaging	1.00
R6134:Rp1l1	UTSW	14	64,267,545 (GRCm39)	missense	probably damaging	1.00
R6135:Rp1l1	UTSW	14	64,267,545 (GRCm39)	missense	probably damaging	1.00
R6428:Rp1l1	UTSW	14	64,269,838 (GRCm39)	missense	possibly damaging	0.92
R6594:Rp1l1	UTSW	14	64,269,126 (GRCm39)	nonsense	probably null
R6736:Rp1l1	UTSW	14	64,267,173 (GRCm39)	missense	possibly damaging	0.93
R6800:Rp1l1	UTSW	14	64,268,599 (GRCm39)	missense	possibly damaging	0.92
R6848:Rp1l1	UTSW	14	64,265,667 (GRCm39)	missense	possibly damaging	0.79
R6922:Rp1l1	UTSW	14	64,267,834 (GRCm39)	missense	possibly damaging	0.93
R6980:Rp1l1	UTSW	14	64,266,169 (GRCm39)	missense	probably benign	0.02
R7053:Rp1l1	UTSW	14	64,268,958 (GRCm39)	missense	possibly damaging	0.68
R7151:Rp1l1	UTSW	14	64,266,475 (GRCm39)	missense	possibly damaging	0.73
R7291:Rp1l1	UTSW	14	64,269,747 (GRCm39)	missense	probably benign	0.10
R7335:Rp1l1	UTSW	14	64,269,447 (GRCm39)	missense	probably benign	0.00
R7344:Rp1l1	UTSW	14	64,267,069 (GRCm39)	missense	probably benign	0.00
R7470:Rp1l1	UTSW	14	64,266,015 (GRCm39)	missense	probably benign
R7570:Rp1l1	UTSW	14	64,269,023 (GRCm39)	nonsense	probably null
R7585:Rp1l1	UTSW	14	64,267,588 (GRCm39)	missense	probably damaging	0.96
R7591:Rp1l1	UTSW	14	64,263,558 (GRCm39)	missense	probably damaging	1.00
R7667:Rp1l1	UTSW	14	64,267,252 (GRCm39)	missense	probably benign	0.04
R7862:Rp1l1	UTSW	14	64,265,476 (GRCm39)	missense	probably damaging	1.00
R7935:Rp1l1	UTSW	14	64,268,674 (GRCm39)	missense	probably damaging	0.99
R8256:Rp1l1	UTSW	14	64,265,602 (GRCm39)	missense	probably benign	0.18
R8403:Rp1l1	UTSW	14	64,266,258 (GRCm39)	missense	probably benign	0.21
R8709:Rp1l1	UTSW	14	64,269,295 (GRCm39)	missense	probably damaging	0.98
R8817:Rp1l1	UTSW	14	64,268,085 (GRCm39)	missense	probably benign
R8971:Rp1l1	UTSW	14	64,259,445 (GRCm39)	missense	probably damaging	1.00
R9380:Rp1l1	UTSW	14	64,266,475 (GRCm39)	missense	probably benign	0.29
R9438:Rp1l1	UTSW	14	64,265,574 (GRCm39)	missense	possibly damaging	0.90
R9501:Rp1l1	UTSW	14	64,266,039 (GRCm39)	missense	probably benign	0.00
R9652:Rp1l1	UTSW	14	64,269,714 (GRCm39)	missense	probably damaging	1.00
R9683:Rp1l1	UTSW	14	64,269,126 (GRCm39)	missense	probably damaging	0.97
X0057:Rp1l1	UTSW	14	64,267,489 (GRCm39)	missense	probably benign	0.14
X0063:Rp1l1	UTSW	14	64,266,672 (GRCm39)	missense	probably damaging	0.98
Z1088:Rp1l1	UTSW	14	64,267,827 (GRCm39)	missense	probably benign	0.01
Z1088:Rp1l1	UTSW	14	64,266,207 (GRCm39)	missense	possibly damaging	0.80
Z1176:Rp1l1	UTSW	14	64,266,593 (GRCm39)	missense	probably damaging	1.00
Z1177:Rp1l1	UTSW	14	64,269,746 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTCAGAAAGGCCTTTGACCTG -3'
(R):5'- TTGCTGGAGCCTCTAAAGTG -3'

Sequencing Primer
(F):5'- CTTTGACCTGCAGCAAATTCTACAG -3'
(R):5'- GGAGCCTCTAAAGTGCCTCCATC -3'

Posted On

2018-10-18